Autosomal recessive cutis laxa type 2A

Autosomal recessive

Neonatal

Autosomal recessive cutis laxa type 2B

Autosomal recessive

Infancy, Neonatal

Autosomal recessive distal nebulin myopathy

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Autosomal recessive dopa-responsive dystonia

Autosomal recessive

Infancy, Neonatal

Autosomal recessive epidermolytic ichthyosis

Autosomal recessive

Autosomal recessive extra-oral halitosis

Autosomal recessive

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Autosomal recessive

Neonatal

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive

Neonatal

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive

Infancy, Neonatal

Autosomal recessive hereditary chronic pancreatitis

Autosomal recessive

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

Autosomal recessive

Infancy

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive

Neonatal

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive

Autosomal recessive hypophosphatemic rickets

Autosomal recessive

Childhood, Infancy

Autosomal recessive infantile hypercalcemia

Autosomal recessive

Infancy, Neonatal

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Autosomal recessive

Childhood

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive

Infancy, Neonatal

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Autosomal recessive

Adult, All ages, Childhood

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Autosomal recessive

Childhood

Autosomal recessive isolated optic atrophy

Autosomal recessive

Childhood, Infancy, Neonatal

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive

Antenatal

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome

Autosomal recessive

Infancy, Neonatal

Autosomal recessive limb-girdle muscular dystrophy, type 28

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive

Childhood