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

Synonyms

Alternative names recorded for Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency across source vocabularies.

• Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN (RUN and cysteine rich domain containing beclin 1 interacting protein) deficiency
• 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 RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder)
• Autosomal recessive spinocerebellar ataxia type 15
• Salih ataxia
• SCAR15 - autosomal recessive spinocerebellar ataxia type 15
• síndrome autosómico recesivo de ataxia cerebelosa, epilepsia, autosómica recesiva debida a homología de STIP1 y deficiencia de proteína 1 con caja U
• síndrome autosómico recesivo de ataxia cerebelosa, epilepsia, autosómica recesiva debida a homología de STIP1 y deficiencia de proteína 1 con caja U (trastorno)

Where it sits in the hierarchy

Ordered by distance - 1 is a direct parent or child.

Get this concept via the API

Resolve Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUBCN deficiency - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.

curl "https://api.omophub.com/v1/concepts/37204209?include_relationships=true" \
  -H "Authorization: Bearer $OMOPHUB_API_KEY"