cerebellar ataxia, mental retardation and dysequlibrium syndrome

Summary
Synonym
  • CAMRQ
  • Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)
  • Uner Tan syndrome
  • VLDLR Cerebellar Hypoplasia
Definition
An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0050997
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
126 ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
3290 HSD11B1 hydroxysteroid 11-beta dehydrogenase 1
5311 PKD2 polycystin 2, transient receptor potential cation channel
5589 PRKCSH PRKCSH beta subunit of glucosidase II
6440 SFTPC surfactant protein C
27306 HPGDS hematopoietic prostaglandin D synthase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024