Rare Disease Library

Autosomal recessive limb-girdle muscular dystrophy type 2R

Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency · LGMD2R

Autosomal recessive limb-girdle muscular dystrophy, type 28

LGMDR28 · Limb-girdle, type 28R

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive severe congenital neutropenia

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

Autosomal semi-dominant severe lipodystrophic laminopathy

Axonal hereditary motor and sensory neuropathy

Axonal HMSN

Bainbridge-Ropers syndrome

Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

Becker muscular dystrophy

BMD · Becker dystrophinopathy

Benign atrophic papulosis

BAP

Benign concentric annular macular dystrophy

Best vitelliform macular dystrophy

BMD · BVMD

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

Beta-thalassemia-trichothiodystrophy syndrome

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

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

Bietti crystalline dystrophy

BCD · Bietti crystalline corneoretinal dystrophy

Blepharophimosis-intellectual disability syndrome

Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

Blepharophimosis-intellectual disability syndrome, Ohdo type

BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type

Blepharophimosis-intellectual disability syndrome, SBBYS type

SBBYS variant of Ohdo syndrome · Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Blepharophimosis-intellectual disability syndrome, Verloes type

BMRS type V · BMRS, Verloes type

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

Blepharophimosis-ptosis-epicanthus inversus syndrome

BPES

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Frydman-Cohen-Karmon syndrome

Blepharoptosis-myopia-ectopia lentis syndrome

Bothnia retinal dystrophy

Västerbotten dystrophy

Bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of adult

Kugelberg-Welander disease · SMA

Bulbospinal muscular atrophy of childhood

Kugelberg-Welander disease · SMA

Butterfly-shaped pigment dystrophy

Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy

BVES-related limb-girdle muscular dystrophy

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

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy · Hypomyelinating leukodystrophy due to hikeshi deficiency

Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy

Mild calf-predominant myopathy

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

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

CAGSSS

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Catastrophic antiphospholipid syndrome

CAPS · Catastrophic APS

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

Central areolar choroidal dystrophy

Areolar atrophy of the macula · CACD

Central cloudy dystrophy of François

CCDF · Central cloudy corneal dystrophy of François