Rare Disease Library

Congenital muscular dystrophy due to LMNA mutation

L-CMD · LMNA-related congenital muscular dystrophy

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

LGMD2P · Autosomal recessive limb-girdle muscular dystrophy type 2P

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-sarcoglycanopathy · LGMD2D

Anoctamin-5-related limb-girdle muscular dystrophy R12

Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD2L

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

Becker muscular dystrophy

BMD · Becker dystrophinopathy

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

BVES-related limb-girdle muscular dystrophy

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

Calpain-3-related limb-girdle muscular dystrophy D4

LGMD1I · Limb-girdle muscular dystrophy type D4

Calpain-3-related limb-girdle muscular dystrophy R1

LGMD2A · Limb-girdle muscular dystrophy due to calpain deficiency

Collagen VI-related congenital muscular dystrophy

COL6-RD

Congenital generalized lipodystrophy

BSCL · Berardinelli-Seip syndrome

Congenital muscular dystrophy

CMD · MDC

Congenital muscular dystrophy due to dystroglycanopathy

CMD due to dystroglycanopathy

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Congenital muscular dystrophy with cerebellar involvement

CMD with cerebellar involvement · CMD-CRB

Congenital muscular dystrophy with hyperlaxity

CMDH

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with ITGA7 deficiency

Congenital muscular dystrophy with intellectual disability

CMD with intellectual disability · CMD-MR

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy-dystroglycanopathy without intellectual disability · CMD without intellectual disability

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital muscular dystrophy, Davignon-Chauveau type

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

Delta-sarcoglycan-related limb-girdle muscular dystrophy R6

Delta-sarcoglycanopathy · LGMD2F

Distal myopathy

Distal muscular dystrophy

DNAJB6-related limb-girdle muscular dystrophy D1

LGMD1D · Autosomal dominant limb-girdle muscular dystrophy type 1D

Duchenne muscular dystrophy

DMD · Duchenne

Dysferlin-related limb-girdle muscular dystrophy R2

LGMD2B · Limb-girdle muscular dystrophy due to dysferlin deficiency

Epidermolysis bullosa simplex with muscular dystrophy

EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

FKRP-related limb-girdle muscular dystrophy R9

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

FLNA-related X-linked myxomatous valvular dysplasia

Filamin A-related X-linked myxomatous valvular dysplasia · FLNA-related valvular dystrophy

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

GMPPB-related limb-girdle muscular dystrophy R19

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

HNRNPDL-related limb-girdle muscular dystrophy D3

LGMD1G · Autosomal dominant limb-girdle muscular dystrophy type 1G

Intermediate collagen VI-related muscular dystrophy

Intermediate COL6-RD

ISPD-related limb-girdle muscular dystrophy R20

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

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

Laminin subunit alpha 2-related late-onset muscular dystrophy · Laminin subunit alpha 2-related LGMD R23

Laminin subunit alpha 2-related muscular dystrophy

LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin

Limb-girdle muscular dystrophy

LGMD

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

Megaconial congenital muscular dystrophy

Congenital megaconial myopathy · Congenital muscular dystrophy with mitochondrial structural abnormalities