Nucleus diseases

rare congenital neuromuscular disorder

human genetic disorder

genetic disease

autosomal recessive congenital disorder featuring insufficiency of tears, adrenal insufficiency, and esophageal dysfunction

dyskeratosis congenita that has material basis in an X-linked recessive mutation of TINF2 on chromosome 14q12

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies