252900.2

Country

Sudan

HPO Terms

Kyphosis; Myopia; Hearing Impairment; Frontal bossing; Coarse facial features
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000199.5:c.1103A>G2NA

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
252900.1SudanIntellectual disability; Attention deficit hyperactivity disorder; Global developmental delay; Recurrent ear infections; Recurrent respiratory infectionsFemaleNoYes
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