Female
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000435.2:c.3691C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
125310.3 | United Arab Emirates | Global developmental delay; Recurrent cerebral hemorrhage; Delayed speech and language development; Leukodystrophy | Male | Yes | Yes | Similarly affected cousins |