600237.1

Country

Saudi Arabia

HPO Terms

Global developmental delay; Severe postnatal growth retardation; Strabismus; Cryptorchidism; Hirsutism; Scoliosis; Abnormality of brain morphology; Abnormal facial shape
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003325.4:c.41A>G2
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