235730.2.3 - CAGS

235730.2.3

Country

Morocco

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Sex

Female

Subject Variants

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Remarks

First cousin, once removed, of 235730.2.1

References

Brooks et al. 1999

Related Subjects

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
235730.2.4	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."

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.