alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002051
integumentary system disorder
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
Shokeir syndrome
exact
alopecia, epilepsy, pyorrhea, mental subnormality
related
congenital universal alopecia, epilepsy, mental subnormality and pyorrhea
related