Rare Disease Library

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Immune-mediated necrotizing myopathy

Autoimmune necrotizing myositis · Necrotizing autoimmune myositis

Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome

FOSL2-related neurodevelopmental disorder

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Shaheen syndrome

Marchiafava-Bignami disease

MBD