Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_080605.4:c.618C>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
609465.1.1 | Palestine | Congenital contracture; Abnormal anterior eye segment morphology; Generalized osteoporosis; Proximal radio-ulnar synostosis; Neonatal death | Female | Yes | Yes | Similarly affected double first-cousin reported |
609465.1.3 | Palestine | Male | Father of 609465.1.1 | |||
609465.1.4 | Palestine | Female | Mother of 609465.1.1 |