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Keratosis follicularis-dwarfism-cerebral atrophy syndrome
rareA 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.
- Identifiers
- MONDO:0010638 OMIM:308830Orphanet:2339
- Part of
- Syndromic disease
- Also known as
- dwarfism, cerebral atrophy and generalised keratosis follicularis · dwarfism, cerebral atrophy and generalized keratosis follicularis · keratosis follicularis dwarfism and cerebral atrophy
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