Rare Disease Library

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Auditory neuropathy-optic atrophy syndrome

Autosomal anomaly syndrome

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal dominant optic atrophy

DOA · ADOA

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant optic atrophy plus syndrome

ADOA+ · DOA+

Autosomal dominant optic atrophy, classic form

Autosomal dominant optic atrophy, Kjer type · Kjer optic atrophy

Autosomal monosomy syndrome

Autosomal deletion

Autosomal recessive Alport syndrome

Autosomal recessive amelia

Autosomal recessive bestrophinopathy

Retinopathy, Burgess-Black type

Autosomal recessive cerebellar ataxia-movement disorder syndrome

SCAR4 · SCASI

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

Autosomal recessive cerebral atrophy

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Autosomal recessive complex spastic paraplegia

Autosomal recessive complex HSP · Autosomal recessive complex SPG

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal osteolysis syndrome

Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Autosomal recessive Kenny-Caffey syndrome

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Autosomal recessive multiple pterygium syndrome

Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Autosomal recessive non-syndromic intellectual disability

AR-NSID · NS-ARID

Autosomal recessive omodysplasia

Micromelic dysplasia-dislocation of radius syndrome

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome

Autosomal recessive sideroblastic anemia

ARSA · Congenital sideroblastic anemia

Autosomal recessive spastic ataxia

AR-SPAX

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia-disc herniation syndrome · SPG25

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3

Autosomal recessive Stickler syndrome

Autosomal recessive syndromic cerebellar ataxia

Autosomal trisomy syndrome

Autosomal duplication

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

BVES-related limb-girdle muscular dystrophy

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

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4