Rare Disease Library

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

Autosomal recessive spastic ataxia

AR-SPAX

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3

Autosomal recessive spondylocostal dysostosis

Jarcho-Levin syndrome

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures · Kugelberg-Welander disease

Bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

BVES-related limb-girdle muscular dystrophy

LGMD2X · Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

Charcot-Marie-Tooth disease type 2B1

AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B2

AR-CMT2B2 · Autosomal recessive axonal CMT4C3

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

Distal hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

Distal myopathy

Distal muscular dystrophy

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · Kugelberg-Welander disease

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

Early-onset autosomal recessive TTN-related distal myopathy

Young or early adult onset recessive distal titinopathy

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Kugelberg-Welander disease · SMA

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive limb-girdle muscular dystrophy type 2I · LGMD2I

Fukutin-related limb-girdle muscular dystrophy R13

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

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gamma-sarcoglycanopathy · LGMD2C

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

GMPPB-related limb-girdle muscular dystrophy R19

LGMD2T · Autosomal recessive limb-girdle muscular dystrophy type 2T

Hereditary sensory and autonomic neuropathy type 2

Autosomal recessive sensory radicular neuropathy · HSAN2

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 6 · SCAR6

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

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

Kennedy disease

SBMA · X-linked BSMA

Lower motor neuron syndrome with late-adult onset

Spinal muscular atrophy, Jokela type · SMAJ

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

OBSOLETE: Autosomal recessive syndromic optic atrophy

OBSOLETE: Distal spinal muscular atrophy

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