Female
| 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. |
| 235730.2.3 | Morocco | Female | First cousin, once removed, of 235730.2.1 | |||
| 235730.2.4 | Morocco | Global developmental delay; Wide nasal bridge; Synophrys; Thick eyebrow; Low-set ears; Telecanthus; Bulbous nose; High palate; Bifid uvula; Macrotia; Hypotonia | Male | Yes | Yes | First cousin, once removed, of 235730.2.1, Sibling of 235730.2.3 Paper states the subject "has microcephaly, mental retardation and characteristic facial abnormalities, but no Hirschsprung disease." |