Rare Disease Library

Autosomal recessive faciodigitogenital syndrome

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

Autosomal recessive frontotemporal pachygyria

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive generalized EBS

Autosomal recessive hereditary chronic pancreatitis

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

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

Autosomal recessive hypohidrotic ectodermal dysplasia

AR-HED

Autosomal recessive hypophosphatemic rickets

ARHR

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 limb-girdle muscular dystrophy

Autosomal recessive malignant osteopetrosis

Infantile malignant osteopetrosis

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Autosomal recessive MSMD due to a complete deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive MSMD due to a partial deficiency

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive methemoglobinemia

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 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 polycystic kidney disease

AR-PKD

Autosomal recessive primary microcephaly

MCPH · Microcephalia vera

Autosomal recessive progressive external ophthalmoplegia

arPEO

Autosomal recessive proximal renal tubular acidosis

AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability

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 severe congenital neutropenia

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 11

Nakamura-Osame syndrome · SPG11

Autosomal recessive spastic paraplegia type 14

SPG14

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

Autosomal recessive spastic paraplegia type 21

Mast syndrome · SPG21

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Autosomal recessive spastic paraplegia type 24

SPG24

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia-disc herniation syndrome · SPG25

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Autosomal recessive spastic paraplegia type 27

SPG27

Autosomal recessive spastic paraplegia type 28

SPG28

Autosomal recessive spastic paraplegia type 32

SPG32

Autosomal recessive spastic paraplegia type 35

SPG35

Autosomal recessive spastic paraplegia type 39

SPG39 · Spastic paraplegia due to NTE mutation

Autosomal recessive spastic paraplegia type 43

SPG43