Rare Disease Library

Autosomal recessive syndromic cerebellar ataxia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 6 · SCAR6

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Autosomal recessive spinocerebellar ataxia type 20 · Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Severe hereditary thrombophilia due to congenital protein C deficiency

Autosomal recessive thrombophilia due to congenital protein C deficiency · Autosomal recessive thrombophilia due to PC deficiency

Severe hereditary thrombophilia due to congenital protein S deficiency

Autosomal recessive thrombophilia due to congenital protein S deficiency

Spectrin-associated autosomal recessive cerebellar ataxia

Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome · Autosomal recessive spinocerebellar ataxia type 14

TOR1AIP1-related limb-girdle muscular dystrophy

TOR1AIP1-related LGMD · LGMD type 2Y