Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_032504.1:c.8525G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616801.8.1 | Palestine; United Arab Emirates | Hypotonia; Microcephaly; Abnormal facial shape; Global developmental delay; Absent speech; Intellectual disability; Seizure; Scoliosis | Female | Yes | Proband (Emirati of Palestinian origin) | |
616801.8.3 | Palestine; United Arab Emirates | Female | Mother of 616801.8.1 (Emirati of Palestinian origin) |