A new X-linked recessive disorder with dwarfism, cerebral atrophy, and generalized keratosis follicularis.
D000015:Abnormalities, Multiple; D001927:Brain Diseases / Q000151:congenital*; D002648:Child; D004392:Dwarfism / Q000151:congenital*; D006801:Humans; D007223:Infant; D007642:Keratosis / Q000151:congenital*; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome