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					<div style="text-align:center"><p><b>Prevalence (%) of clinical parameters based on data from 2 references describing 36 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>Hepatomegaly</td>
					<td>digestive</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/12362029" TARGET="_blank">12362029</A></td>
					
					<td>2014-05-29</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="269700"><input type="hidden" name="symptom" value="Hepatomegaly"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Lipodystrophy</td>
					<td>integumentary</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/12362029" TARGET="_blank">12362029</A></td>
					
					<td>2014-05-29</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="269700"><input type="hidden" name="symptom" value="Lipodystrophy"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Muscle hypertrophy</td>
					<td>skeletal</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/12362029" TARGET="_blank">12362029</A></td>
					
					<td>2014-05-29</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="269700"><input type="hidden" name="symptom" value="Muscle+hypertrophy"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Hypertriglyceridemia</td>
					<td>circulatory</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/12362029" TARGET="_blank">12362029</A></td>
					
					<td>2014-05-29</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="269700"><input type="hidden" name="symptom" value="Hypertriglyceridemia"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Muscle weakness</td>
					<td>skeletal</td>
					<td>100 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/30208912" TARGET="_blank">30208912</A></td>
					
					<td>2019-02-14</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="269700"><input type="hidden" name="symptom" value="Muscle+weakness"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Mental retardation</td>
					<td>nervous</td>
					<td>75 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/12362029" TARGET="_blank">12362029</A></td>
					
					<td>2014-05-29</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="269700"><input type="hidden" name="symptom" value="Mental+retardation"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Diabetes mellitus type 2</td>
					<td>endocrine</td>
					<td>46 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/12362029" TARGET="_blank">12362029</A></td>
					
					<td>2014-05-29</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="269700"><input type="hidden" name="symptom" value="Diabetes+mellitus+type+2"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Hypertrophic cardiomyopathy</td>
					<td>skeletal</td>
					<td>33 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/12362029" TARGET="_blank">12362029</A></td>
					
					<td>2014-05-29</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="269700"><input type="hidden" name="symptom" value="Hypertrophic+cardiomyopathy"><input type="submit" name="symptoms" value="Show"></form></td>

				</tr>
				<tr>
					<td>Bone cysts</td>
					<td>skeletal</td>
					<td>8 %</td>
					<td><A HREF="http://www.ncbi.nlm.nih.gov/pubmed/12362029" TARGET="_blank">12362029</A></td>
					
					<td>2014-05-29</td>
					<td><form name="editsymptoms" method="get" action="editsymptoms.php"><input type="hidden" name="oid" value="269700"><input type="hidden" name="symptom" value="Bone+cysts"><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/12362029" target=\_blank"></a><br><br><BR><br><br> -  <br><br><br><br><a href="http://www.ncbi.nlm.nih.gov/pubmed/30208912" target=\_blank">Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects.</a><br>Jorge Luiz Dantas de Medeiros, Bruno Carneiro Bezerra, Thiago Anderson Brito de Araújo, Aquiles Sales Craveiro Sarmento, Lázaro Batista de Azevedo Medeiros, Lucien Peroni Gualdi, Maria do Socorro Luna Cruz, Thaiza Teixeira Xavier Nobre, Josivan Gomes Lima, Julliane Tamara Araújo de Melo Campos, <br><BR><br><br>Respiratory research - Sep 2018<br><br><br><br><br>
			</TD>
			</TR>
		</TABLE>
<br>
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