Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001165963.4:c.677C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
607208.10 | Saudi Arabia | Myoclonic seizure | Male | Yes | Yes | |
607208.11 | Saudi Arabia | Delayed speech and language development; Intellectual disability; Ataxia; Seizure; Cerebral atrophy | Male | No | Yes | |
607208.13 | Saudi Arabia | Motor delay; Delayed speech and language development; Intellectual disability; Autistic behavior; Seizure | Male | |||
607208.14 | Saudi Arabia | Delayed speech and language development; Seizure | Male | |||
607208.15 | Saudi Arabia | Delayed speech and language development; Seizure; Macrocephaly; Multiple cafe-au-lait spots; Delayed speech and language development; Autistic behavior; Abnormal periventricular white matter morphology | Male |