Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
Contact us |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 2 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
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