Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000115.5:c.914G>A | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
235730.2.1 | Morocco | Aganglionic megacolon; Microcephaly; Global brain atrophy; Global developmental delay; Telecanthus; Prominent nasal bridge; Flat occiput; Short philtrum; Macrotia; Downslanted palpebral fissures; Wide intermamillary distance | Female | Yes | Yes | The patient had two relatives with confirmed Hirschsprung disease; one of them did not carry the Ser305Asn variant while the other was not tested. |
235730.2.2 | Morocco | Female | Mother of 235730.2.1 | |||
235730.2.3 | Morocco | Female | First cousin, once removed, of 235730.2.1 |