235730.2.1

Country

Morocco

HPO Terms

Aganglionic megacolon; Microcephaly; Global brain atrophy; Global developmental delay; Telecanthus; Prominent nasal bridge; Flat occiput; Short philtrum; Macrotia; Downslanted palpebral fissures; Wide intermamillary distance

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000115.5:c.914G>A	1		Shprintzen-Goldberg Craniosynostosis Syndrome

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Remarks

The patient had two relatives with confirmed Hirschsprung disease; one of them did not carry the Ser305Asn variant while the other was not tested.

References

Brooks et al. 1999

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
235730.2.2	Morocco		Female			Mother of 235730.2.1
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."