Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001012759.2:c.873G>A | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
618142.1.2 | United Arab Emirates | Ventilator dependence with inability to wean; Seizure; Bronchomalacia; Agenesis of corpus callosum; Lissencephaly; Hyperreflexia; Strabismus; Camptodactyly; Limitation of joint mobility; Hypertelorism; Microretrognathia; Depressed nasal bridge; Hypotonia | Male | Yes | Yes | Double first cousin of 618142.1.1 |