keratosis follicularis-dwarfism-cerebral atrophy syndrome
A 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.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0019268
epidermal disease
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
dwarfism, cerebral atrophy and generalised keratosis follicularis
related
dwarfism, cerebral atrophy and generalized keratosis follicularis
related
keratosis follicularis dwarfism and cerebral atrophy
related