Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001286577.1:c.184C>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
615948.1.1 | Lebanon | Microcephaly; Abnormal facial shape; Bifid tongue; Lobulated tongue; Hamartoma of tongue; Cleft palate; Aplasia of the epiglottis; Supernumerary tooth; Postaxial hand polydactyly; Broad hallux; Retinopathy; Intellectual disability; Micropenis; Cerebellar vermis hypoplasia | Male | Yes | Yes | Proband |
615948.1.2 | Lebanon | Microcephaly; Abnormal facial shape; Abnormality of the cardiovascular system; Death in infancy | Female | Yes | Yes | Sister of 615948.1.1 |
615948.1.4 | Lebanon | Male | Yes | Mother of 615948.1.1 |