119600.1

Country

United Arab Emirates

HPO Terms

Short stature; Delayed speech and language development; Short clavicles
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001024630.4:c.568C>T1

Remarks

de novo mutation
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