608654.G.1

Country

United Arab Emirates

HPO Terms

Pain insensitivity; Impaired temperature sensation; Anhidrosis; Malar flattening; Gingivitis; Premature loss of teeth; Specific learning disability
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_002506.3:c.680_682delinsA10

Remarks

Bedouin family with 5 affected siblings; 3 females and 2 males. The males were monozygotic twins.
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