Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_006052.2:c.178G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
605298.1.2 | United Arab Emirates | Global developmental delay; Cognitive impairment; Rhizomelia; Short stature; Flexion contracture; Pes planus; Brachydactyly; Midface retrusion; Mandibular prognathia; Webbed neck; Radial bowing | Female | Yes | Yes | Paternal cousin of 605298.1.1 |