Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism.
We report two brothers with congenital total alopecia, mental retardation, childhood convulsions and hypergonadotropic hypogonadism. This association has not previously been reported and probably represents a new autosomal recessive condition.
Devriendt
K
K
Centre for Human Genetics, Leuven, Belgium.
Van den Berghe
H
H
Fryns
J P
JP
D000328:Adult; D000505:Alopecia / Q000150:complications / Q000151:congenital / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics*; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D012640:Seizures / Q000150:complications / Q000235:genetics*