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Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
Add new symptom/sign to this disease
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 - May 2019
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