Rare Disease Library

Infantile nephronophthisis

Autosomal recessive infantile NPHP · Autosomal recessive infantile nephronophthisis

3-methylglutaconic aciduria type 3

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

Autosomal recessive Alport syndrome

Autosomal recessive amelia

Autosomal recessive ataxia, Beauce type

SCAR8 · ARCA1

Autosomal recessive bestrophinopathy

Retinopathy, Burgess-Black type

Autosomal recessive brachyolmia

Brachyolmia, Hobaek/Toledo type

Autosomal recessive carpotarsal osteolysis

Hereditary multicentric osteolysis

Autosomal recessive cerebellar ataxia

ARCA

Autosomal recessive cerebral atrophy

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

ARCMT2K · Autosomal recessive axonal CMT4C4

Autosomal recessive complex spastic paraplegia

Autosomal recessive complex HSP · Autosomal recessive complex SPG

Autosomal recessive congenital ichthyosis

ARCI

Autosomal recessive cutis laxa type 1

ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement

Autosomal recessive cutis laxa type 2

Cutis laxa with joint laxity and developmental delay · ARCL2

Autosomal recessive cutis laxa type 2A

ARCL2A

Autosomal recessive cutis laxa type 2B

ARCL2, progeroid type · ARCL2B

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal myopathy

Autosomal recessive distal nebulin myopathy

Nebulin-related early-onset distal myopathy

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal recessive epidermolytic ichthyosis

AREI

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive generalized EBS

Autosomal recessive infantile hypercalcemia

Familial infantile hypercalcemia with suppressed intact parathyroid hormone · Infantile hypercalcaemia type 1

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Autosomal recessive Kenny-Caffey syndrome

Autosomal recessive malignant osteopetrosis

Infantile malignant osteopetrosis

Autosomal recessive methemoglobinemia

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive myogenic AMC · SYNE1-related AMC

Autosomal recessive myosin storage myopathy

MSMB

Autosomal recessive nail dysplasia

Autosomal recessive omodysplasia

Micromelic dysplasia-dislocation of radius syndrome

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive primary microcephaly

MCPH · Microcephalia vera

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 Stickler syndrome

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