620021.2

Country

United Arab Emirates

HPO Terms

Global developmental delay; Intellectual disability, moderate; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopia; Attention deficit hyperactivity disorder; Bilateral ptosis; Astigmatism; Overlapping toe
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_173791.5:c.894C>G2
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