212550.1.1

Country

Syria

HPO Terms

Global developmental delay; Intellectual disability; Thin skin; Deeply set eye; Anophthalmia
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_007374.3:c.532_536del2

Remarks

Proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
212550.1.2SyriaAnophthalmia; Microphthalmia; Developmental cataract; SclerocorneaMaleYesYesBrother of 212550.1.1
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