Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_153816.6:c.1132C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616354.8.2 | Egypt | Intellectual disability; Autistic behavior; Motor delay; Delayed speech and language development; Delayed social development ; Hypotonia; Cerebellar atrophy; Coarse facial features; Hepatosplenomegaly | Male | Yes | Yes | Brother of 616354.8.1 |