Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001360.2:c.1055G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 270400.3.1 | Saudi Arabia | Growth delay; Profound global developmental delay; Microcephaly; Cryptorchidism; Hypospadias; Generalized hypotonia; Agenesis of corpus callosum; Pyloric stenosis ; 2-3 toe syndactyly ; Micrognathia; Epicanthus; Macrotia; High palate; Cleft soft palate | Male | Yes | Yes | |
| 270400.3.3 | Saudi Arabia | Growth delay; Profound global developmental delay; Microcephaly; Generalized hypotonia; 2-3 toe syndactyly ; Micrognathia; Hypertelorism; Low-set ears | Female | Yes | Yes | Sister of 270400.3.1 |