Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000435.3:c.4581_4594del | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
125310.2 | United Arab Emirates | Global developmental delay; Hypotonia; Abnormal facial shape; Seizure; Gait ataxia; Cerebellar hypoplasia | Female | No | Yes | De novo mutation |