Female
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001350748.2:c.3947G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615419.3.1 | Saudi Arabia | Delayed speech and language development; Infantile muscular hypotonia ; Seizure; Hyperactivity; Chronic constipation; Cognitive impairment | Female | Yes | Yes | |
615419.3.2 | Saudi Arabia | Delayed speech and language development; Infantile muscular hypotonia ; Seizure; Hyperactivity; Chronic constipation; Cognitive impairment | Female | Yes | Yes | Sibling of 615419.3.1 |
615419.3.4 | Saudi Arabia | Female | Mother of 615419.3.1 | |||
615419.3.5 | Saudi Arabia | Male | Father of 615419.3.1 |