222448.1.1

Country

Qatar

HPO Terms

Congenital diaphragmatic hernia; Omphalocele; Hypertelorism; Abnormal corpus callosum morphology; Wide anterior fontanel; Hearing impairment
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004525.3:c.9358_9359del2

Remarks

Patient 'Pt 1' from kindred 6 in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
222448.1.2QatarHypertelorism; Myopia; Hearing impairment; Mild global developmental delay; Heart murmur; SyndactylyFemaleYesYesPatient 'Pt 2' from kindred 6 in the publication, sister of 'Pt 1'
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