612256.1

Country

United Arab Emirates

HPO Terms

Global developmental delay; Delayed speech and language development; Hyperactivity; Aggressive behavior; Self-injurious behavior; Strabismus; Torticollis; Microcephaly; Narrow forehead; Hypotelorism; Epicanthus; Abnormality of the philtrum; High palate; Micrognathia; Pes planus; Abnormal periventricular white matter morphology
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014975.3:c.3539T>G1

Remarks

Proband with de novo mutation
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