Disease #04159

Official abbreviation -
Name anhidrosis
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Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ITPR2
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Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00025863 - PubMed: Klar 2014 7-generation family, 5 affecteds (2F, 3M), unaffected heterozygous relatives - yes Pakistan - - 0 - - anhidrosis anhidrosis (HPO_0000970), severe heat intolerance; normal body growth, normal teeth, hair, nails, and skin; serum/urine normal electrolyte levels; abnormal increases skin and ear canal temperature when heat exposed; normal morphology/number sweat glands (forearm) ITPR2 ITPR2 1 5 Johan den Dunnen
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