Rare Disease Library

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Autosomal recessive axonal hereditary motor and sensory neuropathy

AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2

Autosomal recessive cerebral atrophy

Autosomal recessive congenital cerebellar ataxia

Autosomal recessive congenital ichthyosis

ARCI

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive Emery-Dreifuss muscular dystrophy

EDMD3

Autosomal recessive hereditary chronic pancreatitis

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Autosomal recessive hereditary sensory and autonomic neuropathy

Autosomal recessive limb-girdle muscular dystrophy

Autosomal recessive severe congenital neutropenia

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Charcot-Marie-Tooth disease type 4E

Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

EDICT syndrome

Autosomal dominant keratoconus with early-onset anterior polar cataracts · Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome

Fuchs endothelial corneal dystrophy

Endoepithelial corneal dystrophy · FECD