Male
No
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018451.4:c.3302-1G>C |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
613676.3.1 | Saudi Arabia | Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | Female | No | Yes | |
613676.3.2 | Saudi Arabia | Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | Female | No | Yes | Sibling of 608393.3.1 |
613676.3.3 | Saudi Arabia | Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | Male | No | Yes | Relative of 608393.3.1 (Second cousin, once removed) |
613676.3.4 | Saudi Arabia | Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | Female | No | Yes | Relative of 608393.3.1 (second cousin, once removed) |
613676.3.5 | Saudi Arabia | Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | Female | No | Yes | Relative of 608393.3.1 (second cousin, once removed) |
613676.3.7 | Saudi Arabia | Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | Female | No | Yes | Relative of 608393.3.1 |