Rare Disease Library

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

Exfoliative ichthyosis

Autosomal recessive exfoliative ichthyosis · Ichthyosis exfoliativa

Fukutin-related limb-girdle muscular dystrophy R13

LGMD2M · Autosomal recessive limb-girdle muscular dystrophy type 2M

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 6 · SCAR6

Intermediate osteopetrosis

Autosomal recessive intermediate osteopetrosis

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

OBSOLETE: Autosomal recessive optic atrophy

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7