Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage.
A family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).
D000505:Alopecia / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D008854:Microscopy, Electron; D012640:Seizures / Q000150:complications* / Q000235:genetics; D013577:Syndrome / Q000209:etiology / Q000235:genetics