Rare Disease Library

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

CMT2 due to DGAT2 mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

CMT2 due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

CMT2 due to TFG mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

CMT2 due to VCP mutation · CMT2Y

Combined immunodeficiency due to IKBKB gain-of-function mutation

CID due to IKBKB GOF mutation · Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation

Hao-Fountain syndrome due to USP7 mutation

HAFOUS due to USP7 mutation

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

HSAN due to TECPR2 mutation · Autosomal recessive spastic paraplegia type 49

Kleefstra syndrome due to a point mutation

Lissencephaly due to LIS1 mutation

PAFAH1B1-related lissencephaly

Lissencephaly due to TUBA1A mutation

Mitochondrial membrane protein-associated neurodegeneration

MPAN · NBIA due to C19orf12 mutation