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					<div style="text-align:center"><p><b>Prevalence (%) of clinical parameters based on data from 2 references describing 16 individuals</b></p></div>
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			<TD WIDTH="25%">Pubmed id number as a reference</TD>
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				<option value="choose">Choose symptom</option><option value=" Visual immaturity"> Visual immaturity</option><option value="3-hydroxydicarboxylic aciduria">3-hydroxydicarboxylic aciduria</option><option value="3-hydroxyglutaric aciduria">3-hydroxyglutaric aciduria</option><option value="3-methylglutaconic aciduria">3-methylglutaconic aciduria</option><option value="3-methylglutaric aciduria">3-methylglutaric aciduria</option><option value="5-oxoprolinuria">5-oxoprolinuria</option><option value="Abdominal distension">Abdominal distension</option><option value="Abdominal distention">Abdominal distention</option><option value="Abdominal pain">Abdominal pain</option><option value="Aberrant profile of serum apolipoprotein C-III">Aberrant profile of serum apolipoprotein C-III</option><option value="Abnormal brain stem function">Abnormal brain stem function</option><option value="Abnormal clotting factors">Abnormal clotting factors</option><option value="Abnormal cornea">Abnormal cornea</option><option value="Abnormal Eye Movements">Abnormal Eye Movements</option><option value="Abnormal femoral head">Abnormal femoral head</option><option value="Abnormal visual development">Abnormal visual development</option><option value="Absent ear lobes">Absent ear lobes</option><option value="Absent pyramidal tract">Absent pyramidal tract</option><option value="Acanthocytosis">Acanthocytosis</option><option value="Acanthosis nigricans">Acanthosis nigricans</option><option value="Acro-osteolysis">Acro-osteolysis</option><option value="Acromegaly">Acromegaly</option><option value="Acute chest syndrome">Acute chest syndrome</option><option value="Acute myocardial infarction">Acute myocardial infarction</option><option value="Adducted thumb syndrome">Adducted thumb syndrome</option><option value="Adrenal calcification">Adrenal calcification</option><option value="Adrenal gland hypoplasia">Adrenal gland hypoplasia</option><option value="Advanced bone age">Advanced bone age</option><option value="Agammaglobulinemia">Agammaglobulinemia</option><option value="Aggressive outbursts">Aggressive outbursts</option><option value="Agitation">Agitation</option><option value="Air trapping">Air trapping</option><option value="Akinesia">Akinesia</option><option value="Alacrima">Alacrima</option><option value="Alar grooves">Alar grooves</option><option value="Almond shaped palpebral fissures">Almond shaped palpebral fissures</option><option value="Alopecia">Alopecia</option><option value="Alpha-dystroglycan deficiency">Alpha-dystroglycan deficiency</option><option value="Ambiguous genitalia">Ambiguous genitalia</option><option value="Amblyopia">Amblyopia</option><option value="Amelogenesis imperfecta">Amelogenesis imperfecta</option><option value="Amyloidosis">Amyloidosis</option><option value="Anal atresia">Anal atresia</option><option value="Anemia">Anemia</option><option value="Anencephaly">Anencephaly</option><option value="Angina pectoris">Angina pectoris</option><option value="Angioid streaks">Angioid streaks</option><option value="Angiokeratoma">Angiokeratoma</option><option value="Anisometropia">Anisometropia</option><option value="Anisopoikilocytosis">Anisopoikilocytosis</option><option value="Anopthalmia">Anopthalmia</option><option value="Anorexia">Anorexia</option><option value="Anosmia">Anosmia</option><option value="Anterior stromal dystrophy">Anterior stromal dystrophy</option><option value="Anterior tibialis muscle weakness">Anterior tibialis muscle weakness</option><option value="Anteverted nares">Anteverted nares</option><option value="Anxiety">Anxiety</option><option value="Aortic root dilatation">Aortic root dilatation</option><option value="Aortic valve disease">Aortic valve disease</option><option value="Aortic valvular insufficiency">Aortic valvular insufficiency</option><option value="Apathy">Apathy</option><option value="Aplasia of the humeral epiphysis">Aplasia of the humeral epiphysis</option><option value="Aplasia of the tibial epiphyses">Aplasia of the tibial epiphyses</option><option value="Apnea">Apnea</option><option value="Arachnodactyly">Arachnodactyly</option><option value="Arachnoidal cyst">Arachnoidal cyst</option><option value="Arched eyebrows">Arched eyebrows</option><option value="Areflexia">Areflexia</option><option value="Arm flapping">Arm flapping</option><option value="Arteriosclerosis">Arteriosclerosis</option><option value="Arthralgia">Arthralgia</option><option value="Arthritis">Arthritis</option><option value="Arthrogryposis">Arthrogryposis</option><option value="Ascites">Ascites</option><option value="Asphyxia">Asphyxia</option><option value="Asplenia">Asplenia</option><option value="Asthma">Asthma</option><option value="Astigmatism">Astigmatism</option><option value="Ataxia">Ataxia</option><option value="Athetosis">Athetosis</option><option value="Atopic dermatitis">Atopic dermatitis</option><option value="Atrial fibrillation">Atrial fibrillation</option><option value="Atrial septum defect">Atrial septum defect</option><option value="Attention deficit">Attention deficit</option><option value="Autism">Autism</option><option value="Autonomic signs">Autonomic signs</option><option value="B-cell depletion">B-cell depletion</option><option value="Babinski's sign">Babinski's sign</option><option value="Back pain">Back pain</option><option value="Basal ganglia calcifications">Basal ganglia calcifications</option><option value="Basal ganglia pathology">Basal ganglia pathology</option><option value="Beaked nose">Beaked nose</option><option value="Behavioural disinhibition">Behavioural disinhibition</option><option value="Bifid nasal tip">Bifid nasal tip</option><option value="Bifid uvula">Bifid uvula</option><option value="Bile duct atrophy">Bile duct atrophy</option><option value="Bleeding">Bleeding</option><option value="Blepharophimosis">Blepharophimosis</option><option value="Blindness">Blindness</option><option value="Bluish sclerae">Bluish sclerae</option><option value="Body asymmetry">Body asymmetry</option><option value="Bone cysts">Bone cysts</option><option value="Bone dysplasia">Bone dysplasia</option><option value="Bone infarction">Bone infarction</option><option value="Bone marrow failure">Bone marrow failure</option><option value="Bone pain">Bone pain</option><option value="Bossed forehead">Bossed forehead</option><option value="Brachycephaly">Brachycephaly</option><option value="Brachydactyly">Brachydactyly</option><option value="Brachytelephalangy">Brachytelephalangy</option><option value="Bradycardia">Bradycardia</option><option value="Bradykinesia">Bradykinesia</option><option value="Brain amyloid accumulation">Brain amyloid accumulation</option><option value="Brain calcifications">Brain calcifications</option><option value="Brain iron accumulation">Brain iron accumulation</option><option value="Brain stem pathology">Brain stem pathology</option><option value="Brainstem atrophy">Brainstem atrophy</option><option value="Brainstem haemangioblastoma">Brainstem haemangioblastoma</option><option value="Brainstem hypoplasia">Brainstem hypoplasia</option><option value="Branchial cleft sinus defects">Branchial cleft sinus defects</option><option value="Brittle hair">Brittle hair</option><option value="Broad eyebrows">Broad eyebrows</option><option value="Broad feet">Broad feet</option><option value="Broad nasal bridge">Broad nasal bridge</option><option value="Broad philtra">Broad philtra</option><option value="Bronchial hyperactivity">Bronchial hyperactivity</option><option value="Bronchiectasis">Bronchiectasis</option><option value="Bronchiolitis">Bronchiolitis</option><option value="Bronchitis">Bronchitis</option><option value="Bronchomalacia">Bronchomalacia</option><option value="Bruch membrane rupture">Bruch membrane rupture</option><option value="Bruising">Bruising</option><option value="Bulbar dysfunction">Bulbar dysfunction</option><option value="Bulbuos nasal tip">Bulbuos nasal tip</option><option value="Bulimia">Bulimia</option><option value="Buphthalmus">Buphthalmus</option><option value="Cafe-au-lait spots">Cafe-au-lait spots</option><option value="Calf hypertrophy">Calf hypertrophy</option><option value="Camptodactyly">Camptodactyly</option><option value="Cancer">Cancer</option><option value="Candidiasis">Candidiasis</option><option value="Cardiac arrest">Cardiac arrest</option><option value="Cardiac arrhythmia">Cardiac arrhythmia</option><option value="Cardiac conduction defect">Cardiac conduction defect</option><option value="Cardiac fibrosis">Cardiac fibrosis</option><option value="Cardiac structural defects">Cardiac structural defects</option><option value="Cardiac valve thickening">Cardiac valve thickening</option><option value="Cardiomyopathy">Cardiomyopathy</option><option value="Carpal tunnel syndrome">Carpal tunnel syndrome</option><option value="Cataplexy">Cataplexy</option><option value="Cataract">Cataract</option><option value="Cellular radiosensitivity">Cellular radiosensitivity</option><option value="Cellular UV sensitivity">Cellular UV sensitivity</option><option value="Central nuclei in myotubes">Central nuclei in myotubes</option><option value="Cerebellar atrophy">Cerebellar atrophy</option><option value="Cerebellar cysts">Cerebellar cysts</option><option value="Cerebellar dysplasia">Cerebellar dysplasia</option><option value="Cerebellar haemangioblastoma">Cerebellar haemangioblastoma</option><option value="Cerebellar syndrome">Cerebellar syndrome</option><option value="Cerebellum hypoplasia">Cerebellum hypoplasia</option><option value="Cerebral atrophy">Cerebral atrophy</option><option value="Cerebral edema ">Cerebral edema </option><option value="Cerebral hemorrhage">Cerebral hemorrhage</option><option value="Cerebral palsy">Cerebral palsy</option><option value="Ceruloplasmin levels low">Ceruloplasmin levels low</option><option value="Cervical spine abnormality">Cervical spine abnormality</option><option value="Cervical spine instability">Cervical spine instability</option><option value="Chalazions">Chalazions</option><option value="Chest pain">Chest pain</option><option value="Chilblain-like lesions">Chilblain-like lesions</option><option value="Choanal stenosis">Choanal stenosis</option><option value="Cholelithiasis">Cholelithiasis</option><option value="Cholestasis">Cholestasis</option><option value="Chondrodysplasia punctata">Chondrodysplasia punctata</option><option value="Chorea">Chorea</option><option value="Choreiform movements ">Choreiform movements </option><option value="Choreoathetosis">Choreoathetosis</option><option value="Choroiditis">Choroiditis</option><option value="Chronic kidney disease">Chronic kidney disease</option><option value="Circumoral cyanosis">Circumoral cyanosis</option><option value="Cirrhosis">Cirrhosis</option><option value="Claudicatio">Claudicatio</option><option value="Cleft lip or palate">Cleft lip or palate</option><option value="Clinodactyly">Clinodactyly</option><option value="Clitoromegaly">Clitoromegaly</option><option value="Club foot">Club foot</option><option value="Clubbed fingers">Clubbed fingers</option><option value="Clubbed toes">Clubbed toes</option><option value="Clumsiness">Clumsiness</option><option value="Coagulopathy">Coagulopathy</option><option value="Coarse facial features">Coarse facial features</option><option value="Cobblestone lissencephaly">Cobblestone lissencephaly</option><option value="Cognitive deficits">Cognitive deficits</option><option value="Cold extremities">Cold extremities</option><option value="Colitis">Colitis</option><option value="Coloboma">Coloboma</option><option value="Coma">Coma</option><option value="Compulsive behavior">Compulsive behavior</option><option value="Conductive hearing loss">Conductive hearing loss</option><option value="Congenital blistering">Congenital blistering</option><option value="Congestive heart failure">Congestive heart failure</option><option value="Constipation">Constipation</option><option value="Contracture">Contracture</option><option value="Convex nasal bridge">Convex nasal bridge</option><option value="Cor pulmonale">Cor pulmonale</option><option value="Corneal dystrophy">Corneal dystrophy</option><option value="Corneal edema">Corneal edema</option><option value="Corneal keratosis">Corneal keratosis</option><option value="Corneal opacities">Corneal opacities</option><option value="Corneal scarring">Corneal scarring</option><option value="Coronary heart disease">Coronary heart disease</option><option value="Corpus callosum agenesis">Corpus callosum agenesis</option><option value="Corpus callosum thining">Corpus callosum thining</option><option value="Cortical atrophy">Cortical atrophy</option><option value="Cortical dysgenesis">Cortical dysgenesis</option><option value="Costochondral thickening">Costochondral thickening</option><option value="Coughing">Coughing</option><option value="Cox-negative muscle fibers">Cox-negative muscle fibers</option><option value="Coxa valga deformation">Coxa valga deformation</option><option value="Craniosynostosis">Craniosynostosis</option><option value="Crease below lower lip">Crease below lower lip</option><option value="Cryptophthalmos">Cryptophthalmos</option><option value="Cryptorchidism">Cryptorchidism</option><option value="CSF elevated IFN-alpha">CSF elevated IFN-alpha</option><option value="CSF elevated neopterin">CSF elevated neopterin</option><option value="CSF lymphocytosis">CSF lymphocytosis</option><option value="Curvilinear bodies">Curvilinear bodies</option><option value="Cutis laxa">Cutis laxa</option><option value="Cyanosis">Cyanosis</option><option value="Cystathioninuria">Cystathioninuria</option><option value="Dark urine">Dark urine</option><option value="Death in the first months of life">Death in the first months of life</option><option value="Decrease of circulating B-cells">Decrease of circulating B-cells</option><option value="Decreased blood antithrombin III">Decreased blood antithrombin III</option><option value="Decreased blood HDL">Decreased blood HDL</option><option value="Decreased blood protein P">Decreased blood protein P</option><option value="Decreased blood protein S">Decreased blood protein S</option><option value="Decreased brain NAA to CR">Decreased brain NAA to CR</option><option value="Decreased cerebral blood flow">Decreased cerebral blood flow</option><option value="Decreased cerebral glutamate concentration">Decreased cerebral glutamate concentration</option><option value="Decreased ejection fraction">Decreased ejection fraction</option><option value="Decreased fatty aldehyde dehydrogenase activity">Decreased fatty aldehyde dehydrogenase activity</option><option value="Decreased growth hormone">Decreased growth hormone</option><option value="Decreased GSH levels">Decreased GSH levels</option><option value="Decreased heart rate">Decreased heart rate</option><option value="Decreased LDL">Decreased LDL</option><option value="Decreased motor nerve conduction velocity">Decreased motor nerve conduction velocity</option><option value="Decreased plasma renin">Decreased plasma renin</option><option value="Decreased recovery of RNA synthesis after DNA damage">Decreased recovery of RNA synthesis after DNA damage</option><option value="Decreased serum bicarbonate">Decreased serum bicarbonate</option><option value="Decreased serum ceruloplasmin">Decreased serum ceruloplasmin</option><option value="Decreased serum IGF-1">Decreased serum IGF-1</option><option value="Decreased serum melatonin">Decreased serum melatonin</option><option value="Decreased skin turgor">Decreased skin turgor</option><option value="Decreased subcutaneous fat">Decreased subcutaneous fat</option><option value="Deep vein thrombosis">Deep vein thrombosis</option><option value="Deep-set eyes">Deep-set eyes</option><option value="Delayed bone age">Delayed bone age</option><option value="Delayed closure of anterior fontanel">Delayed closure of anterior fontanel</option><option value="Delayed dental development">Delayed dental development</option><option value="Dementia">Dementia</option><option value="Demyelination">Demyelination</option><option value="Dental abnormalities">Dental abnormalities</option><option value="Dental caries">Dental caries</option><option value="Dental crowding">Dental crowding</option><option value="Dental malocclusion">Dental malocclusion</option><option value="Depressed nasal bridge">Depressed nasal bridge</option><option value="Depressed supraorbital ridges">Depressed supraorbital ridges</option><option value="Depression">Depression</option><option value="Dermal fibrosis">Dermal fibrosis</option><option value="Dermatitis">Dermatitis</option><option value="Developmental delay">Developmental delay</option><option value="Diabetes insipidus">Diabetes insipidus</option><option value="Diabetes mellitus">Diabetes mellitus</option><option value="Diabetes mellitus type 1">Diabetes mellitus type 1</option><option value="Diabetes mellitus type 2">Diabetes mellitus type 2</option><option value="Diabetic retinopathy">Diabetic retinopathy</option><option value="Diaphragmatic hernia">Diaphragmatic hernia</option><option value="Diarrhea">Diarrhea</option><option value="Diastema">Diastema</option><option value="Dilated cardiomyopathy">Dilated cardiomyopathy</option><option value="Disequilibrium">Disequilibrium</option><option value="Disorientation">Disorientation</option><option value="Disproportionate stature">Disproportionate stature</option><option value="Dissecting aortic aneurysm">Dissecting aortic aneurysm</option><option value="Dolichocephaly">Dolichocephaly</option><option value="Dolichostenomelia">Dolichostenomelia</option><option value="Downturned corners of mouth">Downturned corners of mouth</option><option value="Downward sloping palpebral apertures">Downward sloping palpebral apertures</option><option value="Dysarthria">Dysarthria</option><option value="Dysdiadochokinesia">Dysdiadochokinesia</option><option value="Dyskinesias">Dyskinesias</option><option value="Dysmetria">Dysmetria</option><option value="Dysostosis multiplex">Dysostosis multiplex</option><option value="Dysphagia">Dysphagia</option><option value="Dysphonia">Dysphonia</option><option value="Dysplastic fourth metacarpals and metatarsals">Dysplastic fourth metacarpals and metatarsals</option><option value="Dysplastic sphenoid wing">Dysplastic sphenoid wing</option><option value="Dysplastic toenails">Dysplastic toenails</option><option value="Dysplastic vertebrae and ribs">Dysplastic vertebrae and ribs</option><option value="Dyspnoea">Dyspnoea</option><option value="Dysrhythmia">Dysrhythmia</option><option value="Dystonia">Dystonia</option><option value="Dystrophic muscle biopsy with reduced α-DG">Dystrophic muscle biopsy with reduced α-DG</option><option value="Dystrophic muscles">Dystrophic muscles</option><option value="Ear canal atresia">Ear canal atresia</option><option value="Ear malformation">Ear malformation</option><option value="Ear pigmentation">Ear pigmentation</option><option value="Early death">Early death</option><option value="Echogenic cardiac foci">Echogenic cardiac foci</option><option value="Echolalia">Echolalia</option><option value="Ectopia lentis">Ectopia lentis</option><option value="Ectopic kidney">Ectopic kidney</option><option value="Eczema">Eczema</option><option value="Edema">Edema</option><option value="Elevated creatine kinase (CK) levels">Elevated creatine kinase (CK) levels</option><option value="Elevated erythrocyte sedimentation rate">Elevated erythrocyte sedimentation rate</option><option value="Emmetropia">Emmetropia</option><option value="Emphysema">Emphysema</option><option value="Enamel hypoplasia">Enamel hypoplasia</option><option value="Encephalopathy">Encephalopathy</option><option value="Enlarged genitalia">Enlarged genitalia</option><option value="Enlarged subarachnoid spaces">Enlarged subarachnoid spaces</option><option value="Enlarged tongue">Enlarged tongue</option><option value="Entropion">Entropion</option><option value="Epicanthal fold">Epicanthal fold</option><option value="Epiphora">Epiphora</option><option value="Epiphyseal dysplasia">Epiphyseal dysplasia</option><option value="Episodes of quadriparesis">Episodes of quadriparesis</option><option value="Epistaxis">Epistaxis</option><option value="Equinovarus foot position">Equinovarus foot position</option><option value="Erlenmeyer flask deformity">Erlenmeyer flask deformity</option><option value="Erysipelas">Erysipelas</option><option value="Erythroderma">Erythroderma</option><option value="Ethylmalonic aciduria">Ethylmalonic aciduria</option><option value="Everted lower lip">Everted lower lip</option><option value="Exacerbation during febrile episodes">Exacerbation during febrile episodes</option><option value="Exercise intolerance">Exercise intolerance</option><option value="Exotropia">Exotropia</option><option value="Extrapyramidal symptoms">Extrapyramidal symptoms</option><option value="Eye abnormalities">Eye abnormalities</option><option value="Eye pigmentation">Eye pigmentation</option><option value="Facial dyskinesia">Facial dyskinesia</option><option value="Facial dysmorphism">Facial dysmorphism</option><option value="Facial weakness">Facial weakness</option><option value="Failure to thrive">Failure to thrive</option><option value="Fasciculations">Fasciculations</option><option value="Fatigue">Fatigue</option><option value="Fatty heart">Fatty heart</option><option value="Feeding difficulties">Feeding difficulties</option><option value="Femoral hypoplasia">Femoral hypoplasia</option><option value="Fever">Fever</option><option value="Fiber-size variation">Fiber-size variation</option><option value="Fibular hypoplasia">Fibular hypoplasia</option><option value="Fine motor problems">Fine motor problems</option><option value="Finger deformity">Finger deformity</option><option value="Flat and wide-set chest">Flat and wide-set chest</option><option value="Flat occiput">Flat occiput</option><option value="Foam cells">Foam cells</option><option value="Focal segmental glomerulosclerosis">Focal segmental glomerulosclerosis</option><option value="Foot ulcers">Foot ulcers</option><option value="Fracture">Fracture</option><option value="Frontal lobe atrophy">Frontal lobe atrophy</option><option value="Frontocortical dysplasia">Frontocortical dysplasia</option><option value="Full lips">Full lips</option><option value="Fusion of hemispheres ">Fusion of hemispheres </option><option value="Fusion of ribs">Fusion of ribs</option><option value="Gait disturbances">Gait disturbances</option><option value="Gastric ulcers">Gastric ulcers</option><option value="Gastroesophageal reflux">Gastroesophageal reflux</option><option value="Gastrointestinal bleeding">Gastrointestinal bleeding</option><option value="Gastrointestinal dysmotility">Gastrointestinal dysmotility</option><option value="Gastrostomy">Gastrostomy</option><option value="Genu recurvatum">Genu recurvatum</option><option value="Genu valgum">Genu valgum</option><option value="Genu varum">Genu varum</option><option value="Gingival hypertrophy">Gingival hypertrophy</option><option value="Gingivitis">Gingivitis</option><option value="Glaucoma">Glaucoma</option><option value="Gliosis">Gliosis</option><option value="Globus pallidum lesions">Globus pallidum lesions</option><option value="Glomerulonephritis">Glomerulonephritis</option><option value="Glucosuria">Glucosuria</option><option value="Gonadal dysgenesis">Gonadal dysgenesis</option><option value="Graying of hair">Graying of hair</option><option value="Gynecomastia">Gynecomastia</option><option value="Gyriform cortical calcification">Gyriform cortical calcification</option><option value="Haemangioma">Haemangioma</option><option value="Haematuria">Haematuria</option><option value="Hallux valgus">Hallux valgus</option><option value="Hamartomatous polyps">Hamartomatous polyps</option><option value="Hand washing">Hand washing</option><option value="Head titubation">Head titubation</option><option value="Headache">Headache</option><option value="Hearing impairment">Hearing impairment</option><option value="Hearing loss">Hearing loss</option><option value="Hearing loss due to Cochlear malformation">Hearing loss due to Cochlear malformation</option><option value="Heart failure">Heart failure</option><option value="Heart murmur">Heart murmur</option><option value="Hemangiomatous branchial cleft">Hemangiomatous branchial cleft</option><option value="Hematemesis">Hematemesis</option><option value="Hemiplegic attacks">Hemiplegic attacks</option><option value="Hepatic copper accumulation">Hepatic copper accumulation</option><option value="Hepatocellular adenomas">Hepatocellular adenomas</option><option value="Hepatomegaly">Hepatomegaly</option><option value="Hepatopathy">Hepatopathy</option><option value="Hernia">Hernia</option><option value="Heterotopia">Heterotopia</option><option value="High arched palate">High arched palate</option><option value="High nasal bridge">High nasal bridge</option><option value="High serum IgE">High serum IgE</option><option value="High serum IgM">High serum IgM</option><option value="High tolerance to painful stimuli">High tolerance to painful stimuli</option><option value="High-pitched voice">High-pitched voice</option><option value="Hip dysplasia">Hip dysplasia</option><option value="Hirsutism">Hirsutism</option><option value="Horseshoe kidney">Horseshoe kidney</option><option value="Humeral defects">Humeral defects</option><option value="Humeral hypoplasia ">Humeral hypoplasia </option><option value="Hydrocephalus">Hydrocephalus</option><option value="Hydronephrosis">Hydronephrosis</option><option value="Hydrops fetalis">Hydrops fetalis</option><option value="Hyperactive reflexes">Hyperactive reflexes</option><option value="Hyperactivity">Hyperactivity</option><option value="Hyperaminoaciduria">Hyperaminoaciduria</option><option value="Hyperammonemia">Hyperammonemia</option><option value="Hypercalcemia">Hypercalcemia</option><option value="Hypercholesterolemia">Hypercholesterolemia</option><option value="Hypercitrullinemia">Hypercitrullinemia</option><option value="Hyperconvex nails">Hyperconvex nails</option><option value="Hyperechogenic kidney">Hyperechogenic kidney</option><option value="Hyperextensible skin">Hyperextensible skin</option><option value="Hyperglycemia">Hyperglycemia</option><option value="Hyperhidrosis">Hyperhidrosis</option><option value="Hyperinsulinemia">Hyperinsulinemia</option><option value="Hyperkeratinosis">Hyperkeratinosis</option><option value="Hyperkinesia">Hyperkinesia</option><option value="Hyperlaxity">Hyperlaxity</option><option value="Hypermetropia">Hypermetropia</option><option value="Hypermobile joints">Hypermobile joints</option><option value="Hypermobility">Hypermobility</option><option value="Hypernatremia">Hypernatremia</option><option value="Hyperopia">Hyperopia</option><option value="Hyperorality">Hyperorality</option><option value="Hyperparathyroidism">Hyperparathyroidism</option><option value="Hyperpigmentation">Hyperpigmentation</option><option value="Hypersalivation">Hypersalivation</option><option value="Hypersensitivity to DNA cross-linking">Hypersensitivity to DNA cross-linking</option><option value="Hypertelorism">Hypertelorism</option><option value="Hypertension">Hypertension</option><option value="Hyperthermia">Hyperthermia</option><option value="Hyperthyroidism">Hyperthyroidism</option><option value="Hypertonia">Hypertonia</option><option value="Hypertrichosis">Hypertrichosis</option><option value="Hypertriglyceridemia">Hypertriglyceridemia</option><option value="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy</option><option value="Hyperventilation">Hyperventilation</option><option value="Hypoalbuminemia">Hypoalbuminemia</option><option value="Hypocalcemia">Hypocalcemia</option><option value="Hypoceruloplasminemia">Hypoceruloplasminemia</option><option value="Hypocholesterolemia">Hypocholesterolemia</option><option value="Hypocupremia">Hypocupremia</option><option value="Hypodontia">Hypodontia</option><option value="Hypogammaglobulinemia">Hypogammaglobulinemia</option><option value="Hypoglycemia">Hypoglycemia</option><option value="Hypogonadism">Hypogonadism</option><option value="Hypohidrosis">Hypohidrosis</option><option value="Hypokalemia">Hypokalemia</option><option value="Hypoketotic hypoglycemia">Hypoketotic hypoglycemia</option><option value="Hypokinetic left ventricle">Hypokinetic left ventricle</option><option value="Hypomagnesemia">Hypomagnesemia</option><option value="Hypometric saccades">Hypometric saccades</option><option value="Hypomimic">Hypomimic</option><option value="Hypomotility">Hypomotility</option><option value="Hypomyelination">Hypomyelination</option><option value="Hyponatremia">Hyponatremia</option><option value="Hypophosphatemia">Hypophosphatemia</option><option value="Hypopigmentation">Hypopigmentation</option><option value="Hypoplasia of femoral heads">Hypoplasia of femoral heads</option><option value="Hypoplasia of the middle phalanx of the fifth finger">Hypoplasia of the middle phalanx of the fifth finger</option><option value="Hypoplasia of the pituitary gland">Hypoplasia of the pituitary gland</option><option value="Hypoplastic alae nasi">Hypoplastic alae nasi</option><option value="Hypoplastic labia majores">Hypoplastic labia majores</option><option value="Hypoplastic labia minora">Hypoplastic labia minora</option><option value="Hypoplastic nasolabial fold">Hypoplastic nasolabial fold</option><option value="Hypoplastic or absent clavicles">Hypoplastic or absent clavicles</option><option value="Hypoplastic patella">Hypoplastic patella</option><option value="Hypoplastic pelvis">Hypoplastic pelvis</option><option value="Hypoplastic pons">Hypoplastic pons</option><option value="Hypoplastic uterus">Hypoplastic uterus</option><option value="Hypospadia">Hypospadia</option><option value="Hypospadias">Hypospadias</option><option value="Hypotelorism">Hypotelorism</option><option value="Hypotension">Hypotension</option><option value="Hypothermia">Hypothermia</option><option value="Hypothyroidism">Hypothyroidism</option><option value="Hypotonia">Hypotonia</option><option value="Hypoventilation">Hypoventilation</option><option value="Hypsarrhythmia">Hypsarrhythmia</option><option value="Ichthyosis">Ichthyosis</option><option value="Ileus">Ileus</option><option value="Immune deficiency">Immune deficiency</option><option value="Incapable of visual fixation">Incapable of visual fixation</option><option value="Incontinence">Incontinence</option><option value="Increase of serum trisialotransferrin">Increase of serum trisialotransferrin</option><option value="Increased alkaline phosphatase">Increased alkaline phosphatase</option><option value="Increased birth weight">Increased birth weight</option><option value="Increased blood AFP">Increased blood AFP</option><option value="Increased blood bilirubin">Increased blood bilirubin</option><option value="Increased blood CK">Increased blood CK</option><option value="Increased blood gammaglutamyltransferase">Increased blood gammaglutamyltransferase</option><option value="Increased blood guanidinoacetate">Increased blood guanidinoacetate</option><option value="Increased blood LDH">Increased blood LDH</option><option value="Increased blood LDL">Increased blood LDL</option><option value="Increased blood transaminase">Increased blood transaminase</option><option value="Increased cortisol levels">Increased cortisol levels</option><option value="Increased excretion of free sialic acid">Increased excretion of free sialic acid</option><option value="Increased fetal hemoglobin">Increased fetal hemoglobin</option><option value="Increased IgM">Increased IgM</option><option value="Increased plasma ferritin">Increased plasma ferritin</option><option value="Increased plasma HGA">Increased plasma HGA</option><option value="Increased plasma methionine">Increased plasma methionine</option><option value="Increased plasma norepinephrine">Increased plasma norepinephrine</option><option value="Increased plasma urea">Increased plasma urea</option><option value="Increased serum ACTH levels">Increased serum ACTH levels</option><option value="Increased serum alanine">Increased serum alanine</option><option value="Increased serum calcitonin">Increased serum calcitonin</option><option value="Increased serum creatinine">Increased serum creatinine</option><option value="Increased serum prolactin">Increased serum prolactin</option><option value="Increased urin collagen N-telopeptide">Increased urin collagen N-telopeptide</option><option value="Increased urin HGA">Increased urin HGA</option><option value="Increased urinary copper">Increased urinary copper</option><option value="Inflammatory bowel disease">Inflammatory bowel disease</option><option value="Inguinal hernia">Inguinal hernia</option><option value="Insomnia">Insomnia</option><option value="Instability of body temperature">Instability of body temperature</option><option value="Insulin resistance">Insulin resistance</option><option value="Interdigital webbing">Interdigital webbing</option><option value="Intertriginous freckling">Intertriginous freckling</option><option value="Intestinal villous atrophy">Intestinal villous atrophy</option><option value="Intracranial haemorrhage">Intracranial haemorrhage</option><option value="Intrauterine growth retardation">Intrauterine growth retardation</option><option value="Inverted nipples">Inverted nipples</option><option value="Involuntary movements">Involuntary movements</option><option value="Iridonesis">Iridonesis</option><option value="Iris transillumination">Iris transillumination</option><option value="Iron deficiency">Iron deficiency</option><option value="Irritability">Irritability</option><option value="Ischaemic heart disease">Ischaemic heart disease</option><option value="Jaundice">Jaundice</option><option value="Joint bleeding">Joint bleeding</option><option value="Joint dislocation">Joint dislocation</option><option value="Joint effusion">Joint effusion</option><option value="Joint replacement">Joint replacement</option><option value="Kayser-Fleischer ring">Kayser-Fleischer ring</option><option value="Keloid">Keloid</option><option value="Ketosis ">Ketosis </option><option value="Kidney Calcifications">Kidney Calcifications</option><option value="Kidney cysts">Kidney cysts</option><option value="Kidney karyomegaly">Kidney karyomegaly</option><option value="Kidney stone">Kidney stone</option><option value="Kyphosis">Kyphosis</option><option value="Lactate accumulation">Lactate accumulation</option><option value="Large ears">Large ears</option><option value="Large fontanelle">Large fontanelle</option><option value="Large hallux">Large hallux</option><option value="Large mouth">Large mouth</option><option value="Large skin folds">Large skin folds</option><option value="Laryngomalacia">Laryngomalacia</option><option value="Laryngotracheoesophageal anomalies">Laryngotracheoesophageal anomalies</option><option value="Larynx atresia">Larynx atresia</option><option value="Late visual disorientation">Late visual disorientation</option><option value="Laterally facing nipples">Laterally facing nipples</option><option value="Laughing">Laughing</option><option value="Lethargy">Lethargy</option><option value="Leucoplakia">Leucoplakia</option><option value="Leukocytosis">Leukocytosis</option><option value="Leukodystrophy">Leukodystrophy</option><option value="Leukopenia">Leukopenia</option><option value="Limb deformations ">Limb deformations </option><option value="Limb dyspraxia">Limb dyspraxia</option><option value="Limb wasting">Limb wasting</option><option value="Limb-girdle weakness">Limb-girdle weakness</option><option value="Lip pits">Lip pits</option><option value="Lipodystrophy">Lipodystrophy</option><option value="Lisch nodules">Lisch nodules</option><option value="Lissencephaly">Lissencephaly</option><option value="Liver  failure">Liver  failure</option><option value="Liver and biliary tract abnormalities">Liver and biliary tract abnormalities</option><option value="Liver cysts">Liver cysts</option><option value="Liver fibrosis">Liver fibrosis</option><option value="Localized fat accumulation">Localized fat accumulation</option><option value="Long eyelashes">Long eyelashes</option><option value="Long philtrum">Long philtrum</option><option value="Long QT">Long QT</option><option value="Long thumbs">Long thumbs</option><option value="Low anterior hairline">Low anterior hairline</option><option value="Low concentrations of total sialic acid in plasma">Low concentrations of total sialic acid in plasma</option><option value="Low nasal bridge">Low nasal bridge</option><option value="Low plasma carnitine">Low plasma carnitine</option><option value="Low serum IgA">Low serum IgA</option><option value="Low serum IgG">Low serum IgG</option><option value="Low serum IgM">Low serum IgM</option><option value="Low serum trypsinogen">Low serum trypsinogen</option><option value="Low set ears">Low set ears</option><option value="Low-set umbilicus">Low-set umbilicus</option><option value="Lower eyelid coloboma">Lower eyelid coloboma</option><option value="Lumbar lordosis">Lumbar lordosis</option><option value="Lumbar pain">Lumbar pain</option><option value="Lung abscesses">Lung abscesses</option><option value="Lung dysplasia">Lung dysplasia</option><option value="Lympadenopathy">Lympadenopathy</option><option value="Lymphocytic vacuoles">Lymphocytic vacuoles</option><option value="Lymphopenia">Lymphopenia</option><option value="Macrocephaly">Macrocephaly</option><option value="Macrocytic anemia">Macrocytic anemia</option><option value="Macroglossia">Macroglossia</option><option value="Macroorchidism">Macroorchidism</option><option value="Macular degeneration">Macular degeneration</option><option value="Malar hypoplasia">Malar hypoplasia</option><option value="Marfanoid habitus">Marfanoid habitus</option><option value="Marrow infiltration">Marrow infiltration</option><option value="Masklike face">Masklike face</option><option value="Maxillary hypoplasia">Maxillary hypoplasia</option><option value="Mega cisterna magna">Mega cisterna magna</option><option value="Megaepiphyses">Megaepiphyses</option><option value="Megalocornea">Megalocornea</option><option value="Meningo-encephalocele">Meningo-encephalocele</option><option value="Menorrhagia">Menorrhagia</option><option value="Mental retardation">Mental retardation</option><option value="Metabolic acidosis">Metabolic acidosis</option><option value="Metaphyseal dysostosis">Metaphyseal dysostosis</option><option value="Methylmalonic aciduria">Methylmalonic aciduria</option><option value="Methylsuccinic aciduria">Methylsuccinic aciduria</option><option value="Microalbuminuria">Microalbuminuria</option><option value="Microcephaly">Microcephaly</option><option value="Microcytic anemia">Microcytic anemia</option><option value="Microdontia">Microdontia</option><option value="Micrognathia">Micrognathia</option><option value="Micropenis">Micropenis</option><option value="Microphthalmia">Microphthalmia</option><option value="Microtia">Microtia</option><option value="Midfacial hypoplasia">Midfacial hypoplasia</option><option value="Mitral valve disease">Mitral valve disease</option><option value="Mitral valve prolapse">Mitral valve prolapse</option><option value="Mosaic perfusion">Mosaic perfusion</option><option value="Motor delay">Motor delay</option><option value="Motor neuron degeneration">Motor neuron degeneration</option><option value="Moyamoya phenomenon">Moyamoya phenomenon</option><option value="Mucous plugging">Mucous plugging</option><option value="Multiple lipomas">Multiple lipomas</option><option value="Multiple sclerosis">Multiple sclerosis</option><option value="Muscle atrophy">Muscle atrophy</option><option value="Muscle cramps">Muscle cramps</option><option value="Muscle haematoma">Muscle haematoma</option><option value="Muscle hypertrophy">Muscle hypertrophy</option><option value="Muscle weakness">Muscle weakness</option><option value="Myalgia">Myalgia</option><option value="Myelodysplastic syndrome">Myelodysplastic syndrome</option><option value="Myocardial infarction">Myocardial infarction</option><option value="Myoclonus">Myoclonus</option><option value="Myoglobinuria">Myoglobinuria</option><option value="Myopathy">Myopathy</option><option value="Myopia">Myopia</option><option value="Myotonia">Myotonia</option><option value="Nail dystrophy">Nail dystrophy</option><option value="Nail hypoplasia">Nail hypoplasia</option><option value="Narrow ear canal">Narrow ear canal</option><option value="Narrow nose">Narrow nose</option><option value="Narrow palate">Narrow palate</option><option value="Narrow philtrum">Narrow philtrum</option><option value="Narrowed thorax">Narrowed thorax</option><option value="Nasal hypoplasia">Nasal hypoplasia</option><option value="Nasal Polyposis">Nasal Polyposis</option><option value="Nasolacrimal duct stenosis">Nasolacrimal duct stenosis</option><option value="Neck weakness">Neck weakness</option><option value="Nephropathy">Nephropathy</option><option value="Neural tube defect">Neural tube defect</option><option value="Neuroepithelial heterotopias">Neuroepithelial heterotopias</option><option value="Neurofibromas">Neurofibromas</option><option value="Neurogenic bladder">Neurogenic bladder</option><option value="Neuronal migration defect">Neuronal migration defect</option><option value="Neuropathic pain">Neuropathic pain</option><option value="Neuropathy">Neuropathy</option><option value="Neutropenia">Neutropenia</option><option value="Night blindness">Night blindness</option><option value="NK-cell reduction">NK-cell reduction</option><option value="No head control">No head control</option><option value="Non-progressive ventriculomegaly">Non-progressive ventriculomegaly</option><option value="non-walking">non-walking</option><option value="Nose malformation">Nose malformation</option><option value="Nystagmus">Nystagmus</option><option value="Obesity">Obesity</option><option value="Obsessive behavioral routines">Obsessive behavioral routines</option><option value="Obstructive lung disease">Obstructive lung disease</option><option value="Occipital encephalocele">Occipital encephalocele</option><option value="Oculomotor apraxia">Oculomotor apraxia</option><option value="Oesophageal stricture">Oesophageal stricture</option><option value="Oligohydramnios">Oligohydramnios</option><option value="Ophthalmoplegia">Ophthalmoplegia</option><option value="Optic atrophy">Optic atrophy</option><option value="Optic nerve atrophy">Optic nerve atrophy</option><option value="Oral cavity bleeding">Oral cavity bleeding</option><option value="Orbital cyst">Orbital cyst</option><option value="Orientation difficulties">Orientation difficulties</option><option value="Orthodontic problem">Orthodontic problem</option><option value="Orthostatic hypotension">Orthostatic hypotension</option><option value="Osteolytic lesion">Osteolytic lesion</option><option value="Osteonecrosis">Osteonecrosis</option><option value="Osteopenia">Osteopenia</option><option value="Osteoporosis">Osteoporosis</option><option value="Otitis media">Otitis media</option><option value="Ovarian cysts">Ovarian cysts</option><option value="Overriding toes">Overriding toes</option><option value="Ovoid flat vertebrae">Ovoid flat vertebrae</option><option value="Pacemakers implanted">Pacemakers implanted</option><option value="Pachygyria">Pachygyria</option><option value="Pale papillae">Pale papillae</option><option value="Palilalia">Palilalia</option><option value="Pallesthesia">Pallesthesia</option><option value="Pallor">Pallor</option><option value="Pancreatic carcinoma">Pancreatic carcinoma</option><option value="Pancreatic cysts">Pancreatic cysts</option><option value="Pancreatic insufficiency">Pancreatic insufficiency</option><option value="Pancreatitis">Pancreatitis</option><option value="Pancytopenia">Pancytopenia</option><option value="Panuveitis">Panuveitis</option><option value="Papilledema">Papilledema</option><option value="Parkinsonism">Parkinsonism</option><option value="Patellar hypoplasia">Patellar hypoplasia</option><option value="Peau d`orange lesions">Peau d`orange lesions</option><option value="Pectus carinatum">Pectus carinatum</option><option value="Pectus excavatum">Pectus excavatum</option><option value="Peribronchial thickening">Peribronchial thickening</option><option value="Pericardial effusion">Pericardial effusion</option><option value="Pericarditis">Pericarditis</option><option value="Perioral melanocytic macules">Perioral melanocytic macules</option><option value="Peripheral pulmonary artery stenosis">Peripheral pulmonary artery stenosis</option><option value="Periventricular leukomalacia">Periventricular leukomalacia</option><option value="Persistent ductus arteriosus">Persistent ductus arteriosus</option><option value="Persistent fetal finger pads">Persistent fetal finger pads</option><option value="Persistent foramen ovale">Persistent foramen ovale</option><option value="Pes cavus">Pes cavus</option><option value="Pes planus">Pes planus</option><option value="Phaeochromocytoma">Phaeochromocytoma</option><option value="Phimosis">Phimosis</option><option value="Phocomelia">Phocomelia</option><option value="Photophobia">Photophobia</option><option value="Photoreceptor layer thickness topography">Photoreceptor layer thickness topography</option><option value="Pierre-Robin sequence">Pierre-Robin sequence</option><option value="Pituitary gland atrophy">Pituitary gland atrophy</option><option value="Pneumonia">Pneumonia</option><option value="Poikiloderma">Poikiloderma</option><option value="Polydactyly">Polydactyly</option><option value="Polyhydramnios">Polyhydramnios</option><option value="Polymicrogyria">Polymicrogyria</option><option value="Poor eye contact">Poor eye contact</option><option value="Poor healing">Poor healing</option><option value="Poor response to childhood vaccinations">Poor response to childhood vaccinations</option><option value="Port-wine stains">Port-wine stains</option><option value="Portal hypertension">Portal hypertension</option><option value="Post-operative bleeding">Post-operative bleeding</option><option value="Post-partum bleeding">Post-partum bleeding</option><option value="Posterior plagiocephaly">Posterior plagiocephaly</option><option value="Posteriorly rotated ears">Posteriorly rotated ears</option><option value="Postural instability">Postural instability</option><option value="Preauricular pits ">Preauricular pits </option><option value="Preauricular tags">Preauricular tags</option><option value="Precocious puberty">Precocious puberty</option><option value="Prematurity (<37 weeks">Prematurity (<37 weeks</option><option value="Priapism">Priapism</option><option value="Progeroid">Progeroid</option><option value="Prognathia">Prognathia</option><option value="Prominent cavum septum pellucidum">Prominent cavum septum pellucidum</option><option value="Prominent columella">Prominent columella</option><option value="Prominent corneal nerves">Prominent corneal nerves</option><option value="Prominent ears">Prominent ears</option><option value="Prominent eyebrows">Prominent eyebrows</option><option value="Prominent nose">Prominent nose</option><option value="Prominent umbilicus">Prominent umbilicus</option><option value="Prominent veins">Prominent veins</option><option value="Proptosis">Proptosis</option><option value="Prosopagnosia">Prosopagnosia</option><option value="Protein-losing enteropathy">Protein-losing enteropathy</option><option value="Proteinuria">Proteinuria</option><option value="Protruding abdomen">Protruding abdomen</option><option value="Protruding auricles">Protruding auricles</option><option value="Protruding lips">Protruding lips</option><option value="Pruritus">Pruritus</option><option value="Pseudoanodontia">Pseudoanodontia</option><option value="Pseudoepiphyses">Pseudoepiphyses</option><option value="Pseudopodia">Pseudopodia</option><option value="Psychiatric symptom">Psychiatric symptom</option><option value="Psychomotor regression">Psychomotor regression</option><option value="Psychomotor retardation">Psychomotor retardation</option><option value="Psychosis">Psychosis</option><option value="Pterygium">Pterygium</option><option value="Ptosis">Ptosis</option><option value="Pulmonary embolism">Pulmonary embolism</option><option value="Pulmonary fibrosis">Pulmonary fibrosis</option><option value="Pulmonary hypertension">Pulmonary hypertension</option><option value="Pulmonary stenosis">Pulmonary stenosis</option><option value="Pyramidal signs">Pyramidal signs</option><option value="Pyrosis">Pyrosis</option><option value="Quadriplegia">Quadriplegia</option><option value="Radial hypoplasia">Radial hypoplasia</option><option value="Radiosensitivity">Radiosensitivity</option><option value="Ragged red fibres">Ragged red fibres</option><option value="Rash">Rash</option><option value="Reactive airway disease">Reactive airway disease</option><option value="Recurrent infections">Recurrent infections</option><option value="Recurring intestinal obstruction">Recurring intestinal obstruction</option><option value="Reduced left ventricular ejection fraction">Reduced left ventricular ejection fraction</option><option value="Reflux">Reflux</option><option value="Renal agenesis">Renal agenesis</option><option value="Renal cell carcinoma">Renal cell carcinoma</option><option value="Renal failure">Renal failure</option><option value="Repetitive movements">Repetitive movements</option><option value="Respiratory distress">Respiratory distress</option><option value="Respiratory failure">Respiratory failure</option><option value="Retarded myelination">Retarded myelination</option><option value="Retinal angioma">Retinal angioma</option><option value="Retinal cherry red spot">Retinal cherry red spot</option><option value="Retinal dysplasias">Retinal dysplasias</option><option value="Retinal hypopigmentation">Retinal hypopigmentation</option><option value="Retinal myelinated fibers">Retinal myelinated fibers</option><option value="Retinal striae">Retinal striae</option><option value="Retinitis pigmentosa">Retinitis pigmentosa</option><option value="Retrognathia">Retrognathia</option><option value="Rhabdomyolysis">Rhabdomyolysis</option><option value="Rheumatoid arthritis">Rheumatoid arthritis</option><option value="Rieger abnomalities">Rieger abnomalities</option><option value="Rigidity">Rigidity</option><option value="Rocker bottom feet">Rocker bottom feet</option><option value="Scalp cysts">Scalp cysts</option><option value="Scapular winging">Scapular winging</option><option value="Scapulohumeral girdle wasting">Scapulohumeral girdle wasting</option><option value="Scleroderma">Scleroderma</option><option value="Scoliosis">Scoliosis</option><option value="Screaming episodes">Screaming episodes</option><option value="Sea-blue histiocytes">Sea-blue histiocytes</option><option value="Seizures">Seizures</option><option value="Self injurious behavior">Self injurious behavior</option><option value="Self mutilation">Self mutilation</option><option value="Septum pellucidum defect">Septum pellucidum defect</option><option value="Serum elevated IFN-alpha">Serum elevated IFN-alpha</option><option value="Serum transferrin isoelectric focusing disialo elevation">Serum transferrin isoelectric focusing disialo elevation</option><option value="Serum transferrin isoelectric focusing tetrasialo decrease">Serum transferrin isoelectric focusing tetrasialo decrease</option><option value="Shallow orbits">Shallow orbits</option><option value="Shawl scrotum">Shawl scrotum</option><option value="Short limbs">Short limbs</option><option value="Short neck">Short neck</option><option value="Short nose">Short nose</option><option value="Short stature">Short stature</option><option value="Sialorrhea">Sialorrhea</option><option value="Siderosis">Siderosis</option><option value="Simian creases">Simian creases</option><option value="Single palmar creases">Single palmar creases</option><option value="Sinusitis">Sinusitis</option><option value="Situs inversus totalis">Situs inversus totalis</option><option value="Skeletal deformities">Skeletal deformities</option><option value="Skin atrophy">Skin atrophy</option><option value="Skin pigmentation changes">Skin pigmentation changes</option><option value="Skin redundancy">Skin redundancy</option><option value="Skin ulceration">Skin ulceration</option><option value="Skin wrinkles">Skin wrinkles</option><option value="Skull ossification defect">Skull ossification defect</option><option value="Sleep apnea">Sleep apnea</option><option value="Sleep disturbances">Sleep disturbances</option><option value="Sleeping with eyes open">Sleeping with eyes open</option><option value="Sloping forehead">Sloping forehead</option><option value="Slow saccades ">Slow saccades </option><option value="Small ears">Small ears</option><option value="Small hands">Small hands</option><option value="Small mouth">Small mouth</option><option value="Small nose">Small nose</option><option value="Smiling appearance">Smiling appearance</option><option value="Smooth philtrum">Smooth philtrum</option><option value="Sparse eyebrows">Sparse eyebrows</option><option value="Spasticity">Spasticity</option><option value="Speech delay">Speech delay</option><option value="Spinal fusion">Spinal fusion</option><option value="Spinal haemangioblastoma">Spinal haemangioblastoma</option><option value="Spinal rigidity">Spinal rigidity</option><option value="Spinal stenosis">Spinal stenosis</option><option value="Spincter disturbances">Spincter disturbances</option><option value="Splenomegaly">Splenomegaly</option><option value="Spontaneous bacterial peritonitis">Spontaneous bacterial peritonitis</option><option value="Spontaneous pneumothorax">Spontaneous pneumothorax</option><option value="Startling">Startling</option><option value="Steatorrhoea">Steatorrhoea</option><option value="Steatosis">Steatosis</option><option value="Stenosis of oval window">Stenosis of oval window</option><option value="Stenosis of round window">Stenosis of round window</option><option value="Stiff joints">Stiff joints</option><option value="Strabismus">Strabismus</option><option value="Striae">Striae</option><option value="Stroke">Stroke</option><option value="Stupor">Stupor</option><option value="Succinate accumulation">Succinate accumulation</option><option value="Sudden death">Sudden death</option><option value="Sun sensitivity">Sun sensitivity</option><option value="Superficial thrombophlebitis">Superficial thrombophlebitis</option><option value="Syncope">Syncope</option><option value="Syndactyly">Syndactyly</option><option value="Synophrys">Synophrys</option><option value="Synostosis">Synostosis</option><option value="Synovitis">Synovitis</option><option value="Systolic dysfunction">Systolic dysfunction</option><option value="T-cell reduction">T-cell reduction</option><option value="Talipes equinovarus">Talipes equinovarus</option><option value="Tall stature">Tall stature</option><option value="Teeth pigmentation">Teeth pigmentation</option><option value="Telangiectasia">Telangiectasia</option><option value="Temporal intermittent rhythmic delta activity">Temporal intermittent rhythmic delta activity</option><option value="Tented upper lip">Tented upper lip</option><option value="Testicular dysgenesis">Testicular dysgenesis</option><option value="Tetralogy of Fallot">Tetralogy of Fallot</option><option value="Tetraplegia">Tetraplegia</option><option value="Thick hair">Thick hair</option><option value="Thigh hypertrophy">Thigh hypertrophy</option><option value="Thin bones">Thin bones</option><option value="Thin calvarium">Thin calvarium</option><option value="Thin limbs">Thin limbs</option><option value="Thin lips">Thin lips</option><option value="Thin translucent skin">Thin translucent skin</option><option value="Thinning of cerebral gray matter">Thinning of cerebral gray matter</option><option value="Thorax deformity">Thorax deformity</option><option value="Thrombocytopenia">Thrombocytopenia</option><option value="Thrombocytosis">Thrombocytosis</option><option value="Thrombotic episodes">Thrombotic episodes</option><option value="Thumb abnormalities">Thumb abnormalities</option><option value="Thumb ankylosis">Thumb ankylosis</option><option value="Thumb hypoplasia">Thumb hypoplasia</option><option value="Thymus hyperplasia">Thymus hyperplasia</option><option value="Thymus hypoplasia">Thymus hypoplasia</option><option value="Tibial bowing">Tibial bowing</option><option value="Tibial hypoplasia">Tibial hypoplasia</option><option value="Tinitus">Tinitus</option><option value="Toe walking">Toe walking</option><option value="Tongue hypertrophy">Tongue hypertrophy</option><option value="Tongue protrusion">Tongue protrusion</option><option value="Tonsillectomy">Tonsillectomy</option><option value="Tracheomalacia">Tracheomalacia</option><option value="Tracheostoma">Tracheostoma</option><option value="Tremor">Tremor</option><option value="Triangular face">Triangular face</option><option value="Trichorrhexis nodosa">Trichorrhexis nodosa</option><option value="Tricuspid valvular insufficiency">Tricuspid valvular insufficiency</option><option value="Trigonocephaly">Trigonocephaly</option><option value="Truncal titubation">Truncal titubation</option><option value="Tubulopathy">Tubulopathy</option><option value="Ulnar hypoplasia">Ulnar hypoplasia</option><option value="Upslanting palpebral fissures">Upslanting palpebral fissures</option><option value="Ureter agenesis">Ureter agenesis</option><option value="Urethral stricture">Urethral stricture</option><option value="Urinary tract infection">Urinary tract infection</option><option value="Urinary urgency">Urinary urgency</option><option value="Urogenital abnormalities">Urogenital abnormalities</option><option value="Variceal bleeding">Variceal bleeding</option><option value="Varicose veins">Varicose veins</option><option value="Ventricular arrythmia">Ventricular arrythmia</option><option value="Ventricular enlargement brain">Ventricular enlargement brain</option><option value="Ventricular septal defects">Ventricular septal defects</option><option value="Vermis hypoplasia">Vermis hypoplasia</option><option value="Vertebral anomalies">Vertebral anomalies</option><option value="Vertebral segmentation defects">Vertebral segmentation defects</option><option value="Vertical gaze palsy">Vertical gaze palsy</option><option value="Vertigo">Vertigo</option><option value="Vesico-urethral reflux">Vesico-urethral reflux</option><option value="Visceral malformations">Visceral malformations</option><option value="Visual acuity changes with age">Visual acuity changes with age</option><option value="Visual field extent over time">Visual field extent over time</option><option value="Visual impairment">Visual impairment</option><option value="Vitamin D deficiency">Vitamin D deficiency</option><option value="Vomiting">Vomiting</option><option value="VWF abnormalities">VWF abnormalities</option><option value="Weight loss">Weight loss</option><option value="Wheelchair use">Wheelchair use</option><option value="White macular deposits">White macular deposits</option><option value="White matter atrophy">White matter atrophy</option><option value="White matter hyperintensities">White matter hyperintensities</option><option value="White matter lesions">White matter lesions</option><option value="Wide anterior fontanel">Wide anterior fontanel</option><option value="Wide digital bones">Wide digital bones</option><option value="Wide sutures">Wide sutures</option><option value="Widely spaced teeth">Widely spaced teeth</option><option value="Widened atrophic scars">Widened atrophic scars</option><option value="Widow's peak">Widow's peak</option><option value="Windswept deformity">Windswept deformity</option><option value="Word retrieval difficulties">Word retrieval difficulties</option><option value="Wormian bones">Wormian bones</option><option value="Xanthomas">Xanthomas</option><option value="Xeroderma">Xeroderma</option><option value="Xerophthalmus">Xerophthalmus</option><option value="Xerosis">Xerosis</option><option value="Yellowish papules">Yellowish papules</option><option value="Zygomatic hypoplasia">Zygomatic hypoplasia</option>
				</select>
			</TD>
			<TD WIDTH="25%"><INPUT TYPE="text" NAME="symptom" SIZE="25" value=""></TD>
			<TD WIDTH="25%"><INPUT TYPE="text" NAME="pmid" SIZE="15" value=""></TD>
			<TD WIDTH="25%"><select NAME="organ"><option value="choose">Choose organ system</option><option value="circulatory">Circulatory</option><option value="digestive">Digestive</option><option value="endocrine">Endocrine</option><option value="integumentary">Integumentary</option><option value="lymphatic">Lymphatic</option><option value="multi">Multi systemic</option><option value="nervous">Nervous</option><option value="reproductive">Reproductive</option><option value="respiratory">Respiratory</option><option value="skeletal">Skeletal</option><option value="urinary">Urinary</option></select></TD>
		</TR>
		<TR>
			<TD WIDTH="25%">Number of patients in the reference</TD>
			<TD WIDTH="25%">Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)</TD>
			<TD WIDTH="25%"></TD>
			<TD WIDTH="35%"></TD>
		</TR>
		<TR>
			<TD WIDTH="25%"><INPUT TYPE="text" NAME="numpat" SIZE="25" value=""></TD>
			<TD WIDTH="25%"><INPUT TYPE="text" NAME="percent" SIZE="15" value=""></TD>
			<TD WIDTH="25%"></TD>
			<TD WIDTH="25%"></TD>

		</TR>
		<TR>

			<TD WIDTH="100%" colspan="4"><b>Please provide your name and contact information as a reference</b></TD>
		</TR>
		<TR>
			<TD WIDTH="25%">Name</TD>
			<TD WIDTH="25%">Institute</TD>
			<TD WIDTH="25%">Phone number</TD>
			<TD WIDTH="25%">Email address</TD>
		</TR>
		<TR>
			<TD WIDTH="25%"><INPUT TYPE="text" NAME="name" SIZE="20" value=""></TD>
			<TD WIDTH="25%"><INPUT TYPE="text" NAME="institute" SIZE="15" value=""></TD>
			<TD WIDTH="25%"><INPUT TYPE="text" NAME="phone" SIZE="15" value=""></TD>
			<TD WIDTH="25%"><INPUT TYPE="text" NAME="email" SIZE="15" value=""></TD>
		</TR>
		<TR>
			<TD colSpan="4">
				<input type="hidden" name="update_dis" value="upd_dis" />
				<input type="submit" name="submit" value="submit">
				</TD>
		</TR>
	</table>
	<br></form><br><p><b>List of symptoms</b></p><br><br>
	<table width="95%">
		<tr>
			<td>Symptom/sign</td>
			<td>Organ system</td>
			<td>Percent affected</td>
			<td>Pubmed id</A></td>
			
			<td>Added on(yyyy-mm-dd)</td>
			<td>Edit/add reference</td>
		</tr>
				<tr>
					<td>Seizures</td>
					<td>nervous</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/24995870" TARGET="_blank">24995870</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Seizures"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Developmental delay</td>
					<td>nervous</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/24995870" TARGET="_blank">24995870</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Developmental+delay"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Seizures</td>
					<td>nervous</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Seizures"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Hypodontia</td>
					<td>skeletal</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Hypodontia"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Hypodontia</td>
					<td>skeletal</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Hypodontia"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Ataxia</td>
					<td>nervous</td>
					<td>50 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Ataxia"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Hypercalcemia</td>
					<td>circulatory</td>
					<td>38 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Hypercalcemia"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Athetosis</td>
					<td>nervous</td>
					<td>38 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Athetosis"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Weight loss</td>
					<td>multi</td>
					<td>38 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Weight+loss"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Periventricular leukomalacia</td>
					<td>nervous</td>
					<td>25 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Periventricular+leukomalacia"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Spasticity</td>
					<td>nervous</td>
					<td>25 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Spasticity"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Short stature</td>
					<td>skeletal</td>
					<td>25 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Short+stature"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Lactate accumulation</td>
					<td>nervous</td>
					<td>13 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Lactate+accumulation"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Masklike face</td>
					<td>nervous</td>
					<td>13 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Masklike+face"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Hypotonia</td>
					<td>nervous</td>
					<td>13 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/26384929" TARGET="_blank">26384929</A></td>
					
					<td>2015-09-21</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="615905"><input type="hidden" name="symptom" value="Hypotonia"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
	</table><br><br><br><b>List of references:</b><br><br><br><a href="http://www.ncbi.nlm.nih.gov/pubmed/24995870" target=\_blank"></a><br><br><BR><br><br> -  <br><br><br><br><a href="http://www.ncbi.nlm.nih.gov/pubmed/26384929" target=\_blank">Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.</a><br>Katia Hardies, Carolien G F de Kovel, Sarah Weckhuysen, Bob Asselbergh, Thomas Geuens, Tine Deconinck, Abdelkrim Azmi, Patrick May, Eva Brilstra, Felicitas Becker, Nina Barisic, Dana Craiu, Kees P J Braun, Dennis Lal, Holger Thiele, Julian Schubert, Yvonne Weber, Ruben van 't Slot, Peter Nürnberg, Rudi Balling, Vincent Timmerman, Holger Lerche, Stuart Maudsley, Ingo Helbig, Arvid Suls, Bobby P C Koeleman, Peter De Jonghe,  , <br><BR><br><br>Brain : a journal of neurology - Nov 2015<br><br><br><br><br>
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