Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_015884.3:c.1424T>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
308205.1.1 | Lebanon | Alopecia; Ichthyosis follicularis; Psoriasiform lesion; Neurodevelopmental delay; Seizure; Osteoporosis; Renal insufficiency; | Male | Yes | Sibling of 308205.1.2 |