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keratosis follicularis-dwarfism-cerebral atrophy syndrome

Disease Summary
Associated Targets ()

Mondo Description Keratosis follicularis-dwarfism-cerebral atrophy syndrome is 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.
Mondo Term and Equivalent IDs
MONDO:0010638:  keratosis follicularis-dwarfism-cerebral atrophy syndrome
GARD:0003099: 
MESH:C536158: 
Orphanet:2339: 
UMLS:C1839910: