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GTR Home > Conditions/Phenotypes > Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Synonyms
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1; CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE; CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; Cerebellar disorder, nonprogressive, with mental retardation; Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1; Cerebellar hypoplasia, VLDLR associated

Summary

Excerpted from the GeneReview: VLDLR Cerebellar Hypoplasia
VLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures. Children either learn to walk very late (often after age 6 years) or never achieve independent ambulation. Brain MRI findings include hypoplasia of the inferior portion of the cerebellar vermis and hemispheres, simplified gyration of the cerebral hemispheres, and small brain stem – particularly the pons.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Kym M Boycott
Stella K MacDonald
Jillian S Parboosingh
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Available tests

28 tests are in the database for this condition.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAMRQ1, CARMQ1, CHRMQ1, VLDL-R, VLDLRCH, VLDLR
    Summary: very low density lipoprotein receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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