244450.1

Country

United Arab Emirates

HPO Terms

Global developmental delay; Autism; Abnormal facial shape; Blepharophimosis
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_130466.3:c.2252A>G2

Remarks

Similarly affected sibling and cousin

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
244450.2United Arab EmiratesAtrial septal defect; Failure to thrive; Microcephaly; Delayed speech and language development; Motor delay; Intellectual disability; Hypotonia; Hearing impairment; SyndactylyMaleNoYes
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