Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_002887.3:c.1316C>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616140.1.1 | United Arab Emirates | Severe global developmental delay; Nystagmus; Spasticity; Seizure; Microcephaly; Hypotonia; Cerebral hypomyelination; Cerebral atrophy; Cerebellar atrophy | Male | Yes |