Keratosis follicularis-dwarfism-cerebral atrophy syndrome
MONDO:0010638A syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.
Also known as: dwarfism, cerebral atrophy and generalised keratosis follicularis, dwarfism, cerebral atrophy and generalized keratosis follicularis, keratosis follicularis dwarfism and cerebral atrophy, keratosis follicularis, dwarfism, and cerebral atrophy
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