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608654.G.1
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Subject Details
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 Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_002506.3:c.680_682delinsA
10
Neuropathy, Hereditary Sensory and Autonomic, Type V
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Remarks
Bedouin family with 5 affected siblings; 3 females and 2 males. The males were monozygotic twins.
References
Carvalho et al. 2011;
Saleh et al. 2021
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