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
Disease Ontology
DOID:0050997
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
7280 TUBB2A tubulin beta 2A class IIa
10381 TUBB3 tubulin beta 3 class III
10382 TUBB4A tubulin beta 4A class IVa
10383 TUBB4B tubulin beta 4B class IVb
81027 TUBB1 tubulin beta 1 class VI
84617 TUBB6 tubulin beta 6 class V
203068 TUBB tubulin beta class I
347733 TUBB2B tubulin beta 2B class IIb
Displaying all 7 entries
Gene ID Gene Symbol Description Source
22151 Tubb2a tubulin, beta 2A class IIA
22152 Tubb3 tubulin, beta 3 class III
22153 Tubb4a tubulin, beta 4A class IVA
22154 Tubb5 tubulin, beta 5 class I
67951 Tubb6 tubulin, beta 6 class V
73710 Tubb2b tubulin, beta 2B class IIB
227613 Tubb4b tubulin, beta 4B class IVB

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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: December 9, 2024