610536.1.1

Lebanon

Intellectual disability; Microcephaly; Microtia; Abnormal earlobe morphology; Cleft palate; Hearing impairment; Esophageal atresia

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004247.4:c.2622dupT	1		Mandibulofacial Dysostosis, Guion-Almeida Type

Germline mosaicism in one of the parents. OMIM classifies this patient under OMIM# 221300. This diagnosis has since been revisited and modified.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610536.1.2	Lebanon	Intellectual disability; Microcephaly; Microtia; Abnormal earlobe morphology; Cleft palate; Hearing impairment	Female	Yes	No	Sister of 610536.1.1. OMIM classifies this patient under OMIM# 221300. This diagnosis has since been revisited and modified.