Rare Disease Library

Infantile nephronophthisis

Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis

Intermediate osteopetrosis

Autosomal recessive intermediate osteopetrosis

Kjellin syndrome

Hereditary spastic paraparesis type 15 · Autosomal recessive spastic paraplegia type 15

Multiple epiphyseal dysplasia type 4

Autosomal recessive multiple epiphyseal dysplasia · EDM4

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

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome

Severe early-onset axonal neuropathy due to MFN2 deficiency

AR-CMT2, Ouvrier type · Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN