256800.3.1

United Arab Emirates

Pain insensitivity; Anhidrosis; Failure to thrive; Self-mutilation; Autoamputation of digits

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002529.4:c.429-1G>C	2	NA	Insensitivity to Pain, Congenital, with Anhidrosis
NM_002529.4:c.253C>A	2	NA

Patient from 'family KI-102' in Mardy et al. 1999

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
256800.3.2	United Arab Emirates		Male			Father of 256800.3.1
256800.3.3	United Arab Emirates		Female			Mother of 256800.3.1