609533.1

Country

United Arab Emirates

HPO Terms

Congenital sensorineural hearing impairment; Metopic synostosis; Global developmental delay
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001142763.2:c.2376TGT[2]2

Remarks

Similarly affected sister
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