105830.1

Country

United Arab Emirates

HPO Terms

Macrocephaly; Plagiocephaly; Delayed speech and language development
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000462.3:c.2576_2579del1

Remarks

Father and siblings have macrocephaly
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