Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive

Autosomal recessive methemoglobinemia

Autosomal recessive

Infancy, Neonatal

Autosomal recessive multiple pterygium syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive

Neonatal

Autosomal recessive myosin storage myopathy

Autosomal recessive

Autosomal recessive nail dysplasia

Autosomal recessive

Childhood, Infancy

Autosomal recessive non-syndromic intellectual disability

Autosomal recessive

Childhood, Infancy

Autosomal recessive omodysplasia

Autosomal recessive

Infancy, Neonatal

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive

Childhood

Autosomal recessive otospondylomegaepiphyseal dysplasia

Autosomal recessive

Antenatal, Neonatal

Autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive

Neonatal

Autosomal recessive polycystic kidney disease

Autosomal recessive

All ages

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Autosomal recessive

Childhood, Infancy, Neonatal

Autosomal recessive primary microcephaly

Autosomal recessive

Antenatal, Neonatal

Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive

All ages

Autosomal recessive proximal renal tubular acidosis

Autosomal recessive

Childhood

Autosomal recessive pure spastic paraplegia

Autosomal recessive

Autosomal recessive secondary polycythemia not associated with VHL gene

Autosomal recessive

Infancy, Neonatal

Autosomal recessive severe congenital neutropenia

Autosomal recessive

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive

Infancy, Neonatal

Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency

Autosomal recessive

Infancy, Neonatal

Autosomal recessive sideroblastic anemia

Autosomal recessive

Infancy, Neonatal

Autosomal recessive spastic ataxia

Autosomal recessive

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive

Adolescent, Adult, Childhood, Infancy