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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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 |
| Developmental delay | nervous | 100 % | 28503735 | 2019-12-10 | |
| Spasticity | nervous | 100 % | 28503735 | 2019-12-10 | |
| Ventricular enlargement brain | nervous | 100 % | 28503735 | 2019-12-10 | |
| Corpus callosum thining | nervous | 100 % | 28503735 | 2019-12-10 | |
| Thinning of cerebral gray matter | nervous | 100 % | 28503735 | 2019-12-10 | |
| Seizures | nervous | 83 % | 28503735 | 2019-12-10 | |
| Microcephaly | nervous | 50 % | 28503735 | 2019-12-10 |
List of references:
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.
J Suleiman, D Allingham-Hawkins, M Hashem, H E Shamseldin, F S Alkuraya, A W El-Hattab,
Clinical genetics - Feb 2018