Rare Disease Library

Infantile nephronophthisis

Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 6 · SCAR6

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

ISPD-related limb-girdle muscular dystrophy R20

LGMD2U · Autosomal recessive limb-girdle muscular dystrophy type 2U

Kjellin syndrome

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

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement

OBSOLETE: Autosomal recessive LGMD with cerebellar involvement

OBSOLETE: Autosomal recessive optic atrophy

OBSOLETE: Autosomal recessive optic atrophy, OPA6 type

OBSOLETE: Autosomal recessive optic atrophy, OPA9 type

Osteopetrosis-hypogammaglobulinemia syndrome

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

Plectin-related limb-girdle muscular dystrophy R17

LGMD2Q · Plectin-related LGMD R17

POGLUT1-related limb-girdle muscular dystrophy R21

LGMD2Z · Autosomal recessive limb-girdle muscular dystrophy type 2Z

POMGNT1-related limb-girdle muscular dystrophy R15

LGMD2O · Autosomal recessive limb-girdle muscular dystrophy type 2O

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

POMT2-related limb-girdle muscular dystrophy R14

LGMD2N · Autosomal recessive limb-girdle muscular dystrophy type 2N

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive isolated neurosensory hearing loss type DFNB · Autosomal recessive isolated neurosensory deafness type DFNB

Severe early-onset axonal neuropathy due to MFN2 deficiency

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

Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

Spinal muscular atrophy with respiratory distress type 1

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

Telethonin-related limb-girdle muscular dystrophy R7

LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency

Titin-related limb-girdle muscular dystrophy R10

Autosomal recessive limb-girdle muscular dystrophy type 2J · LGMD2J

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

Young adult-onset distal hereditary motor neuropathy

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