hair defect with photosensitivity and intellectual disability syndrome
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
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