Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder)

active

Code	`782721009`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20190731

Synonyms

Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency
Autosomal recessive spinocerebellar ataxia type 15
SCAR15 - autosomal recessive spinocerebellar ataxia type 15
Salih ataxia

Parents (2)

85995004Autosomal recessive hereditary disorder disorder
129609000Spinocerebellar ataxia disorder

Children (0)

None (leaf concept).