hair defect with photosensitivity and intellectual disability syndrome
Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019282
obsolete syndromic hair shaft abnormality (obsolete MONDO:0019282)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
Calderon Gonzalez-Cantu syndrome
exact
Calderón-González-Cantu syndrome
exact
hair defect with photosensitivity and intellectual disability syndrome
exact
hair defect with photosensitivity and mental retardation
related
hair defect-photosensitivity-intellectual disability syndrome
exact
kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability
related
kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation
related