Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001206999.2:c.317G>T | 2 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
617090.3.1 | Egypt | Intellectual disability, moderate; Delayed gross motor development; Delayed fine motor development; Delayed speech and language development; Delayed social development; Hypertonia; Brisk reflexes; Simplified gyral pattern; Thin corpus callosum; Short stature; Abnormal facial shape; Microcephaly | Male | Yes | Yes | Patient from 'family 718' in the publication. |
617090.3.3 | Egypt | Delayed gross motor development; Delayed speech and language development; Delayed social development; Simplified gyral pattern; Thin corpus callosum; Abnormal facial shape; Microcephaly; Intellectual disability, mild | Male | Yes | Yes | Brother of 617090.3.1 |