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Abnormal pigmentation
Melanosis

Traduction de «abnormal pigmentation blindness » (Anglais → Français) :

Syndrome with characteristics of the onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar atax

syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse


melanosis | abnormal pigmentation

mélanose | accumulation anormale de pigment brun foncé dans la peau


A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, cafe au lait spots), microc

syndrome du chromosome 7 en anneau


A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and friendly/amiable behavior. Abnormal hair pigmentation and texture is also frequent. Short stature, pectus excavatum, spine anomalies, dislocation

syndrome de Koolen-De Vries




D'autres ont cherché : abnormal pigmentation     melanosis     abnormal pigmentation blindness     


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Date index: 2022-03-14
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