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Pitt-Hopkins Syndrome

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Prevalence (%) of clinical parameters based on data from 1 references describing 112 individuals







Add new symptom/sign to this disease

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 22045651 2015-06-04
Tented upper lip skeletal 94 % 22045651 2015-06-04
Everted lower lip skeletal 94 % 22045651 2015-06-04
Large mouth skeletal 94 % 22045651 2015-06-04
Beaked nose skeletal 94 % 22045651 2015-06-04
Broad nasal bridge skeletal 94 % 22045651 2015-06-04
Deep-set eyes skeletal 94 % 22045651 2015-06-04
Smiling appearance nervous 91 % 22045651 2015-06-04
Hypotonia nervous 81 % 22045651 2015-06-04
Constipation digestive 75 % 22045651 2015-06-04
Agitation nervous 68 % 22045651 2015-06-04
Single palmar creases integumentary 65 % 22045651 2015-06-04
Arm flapping nervous 62 % 22045651 2015-06-04
Arachnodactyly skeletal 61 % 22045651 2015-06-04
Ataxia nervous 60 % 22045651 2015-06-04
Strabismus nervous 60 % 22045651 2015-06-04
Anxiety nervous 57 % 22045651 2015-06-04
Hand washing nervous 57 % 22045651 2015-06-04
Pes planus skeletal 57 % 22045651 2015-06-04
Hyperventilation respiratory 56 % 22045651 2015-06-04
Myopia nervous 56 % 22045651 2015-06-04
Laughing nervous 55 % 22045651 2015-06-04
Apnea respiratory 54 % 22045651 2015-06-04
Self mutilation nervous 52 % 22045651 2015-06-04
Overriding toes skeletal 43 % 22045651 2015-06-04
Corpus callosum thining nervous 40 % 22045651 2015-06-04
Seizures nervous 39 % 22045651 2015-06-04
Reflux digestive 33 % 22045651 2015-06-04
Cyanosis respiratory 32 % 22045651 2015-06-04
Ventricular enlargement brain nervous 31 % 22045651 2015-06-04
Sleep disturbances nervous 27 % 22045651 2015-06-04
Short stature skeletal 23 % 22045651 2015-06-04
Scoliosis skeletal 23 % 22045651 2015-06-04
Talipes equinovarus skeletal 20 % 22045651 2015-06-04
Cryptorchidism reproductive 20 % 22045651 2015-06-04
Cerebral atrophy nervous 19 % 22045651 2015-06-04
Pes cavus skeletal 19 % 22045651 2015-06-04
Leukodystrophy nervous 13 % 22045651 2015-06-04
Thumb ankylosis skeletal 12 % 22045651 2015-06-05



List of references:







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