Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
IDDSSA

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals







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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
Mental retardation nervous 100 % 30968111 2019-12-10
Developmental delay nervous 100 % 30968111 2019-12-10
Cerebral atrophy nervous 100 % 30968111 2019-12-10
Ventricular enlargement brain nervous 100 % 30968111 2019-12-10
Cardiac conduction defect circulatory 100 % 30968111 2019-12-10
Short stature skeletal 100 % 30968111 2019-12-10
Kyphosis skeletal 50 % 30968111 2019-12-10
Thumb hypoplasia skeletal 50 % 30968111 2019-12-10
Clinodactyly skeletal 50 % 30968111 2019-12-10
Overriding toes skeletal 50 % 30968111 2019-12-10



List of references:


A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities.
Musharraf Jelani, Hannah C Dooley, Andrea Gubas, Hussein Sheikh Ali Mohamoud, Muhammad Tariq Masood Khan, Zahir Ali, Changsoo Kang, Fazal Rahim, Amin Jan, Nirmal Vadgama, Muhammad Ismail Khan, Jumana Yousuf Al-Aama, Asifullah Khan, Sharon A Tooze, Jamal Nasir,



Brain : a journal of neurology - 05 2019