Rare Disease Library

Autosomal recessive primary microcephaly

MCPH · Microcephalia vera

Achalasia-microcephaly syndrome

Amish lethal microcephaly

Anonychia-microcephaly syndrome

Teebi-Kaurah syndrome

Atelencephaly

Atelencephalic microcephaly

Goldberg-Shprintzen megacolon syndrome

GOSHS · Megacolon-microcephaly syndrome

Macrocephaly-spastic paraplegia-dysmorphism syndrome

Fryns macrocephaly

Microlissencephaly