Vertaling van "Cartilage-hair-hypoplasia " (Engels → Frans) :

cartilage-hair-hypoplasia | CHH syndrome
chondrodysplasie métaphysaire type Mac Kusick

A type of oculocutaneous albinism found in one Pakistani family to date, with characteristics of white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity. Affects males and females equally. Mapped to a locus on ch
albinisme oculo-cutané type 5

A type of oculocutaneous albinism recently discovered in one Chinese family, with characteristics of light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. Cause
albinisme oculo-cutané type 6

A multiple congenital anomalies/dysmorphic syndrome with characteristics of intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, na
syndrome de Kozlowski-Krajewska