Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 1 (CAMRQ1)

Alias:

Dysequilibrium Syndrome

Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

Cerebellar Hypoplasia, Vldlr-Associated

Uner Tan Syndrome

Camrq Syndrome

Camrq1

Des

Uts

Cerebellar Hypoplasia, Impaired Intellectual Development, and Dysequilibrium Syndrome 1

Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion

Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 1

Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Cerebellar Ataxia, Congenital, and Mental Retardation, Autosomal Recessive

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

Cerebellar Ataxia, Intellectual Disability, and Dysequilibrium Syndrome 1

Ataxia, Cerebellar, Mental Retardation, Quadrupedal Locomotion, Type 1

Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome

Non-Progressive Cerebellar Ataxia with Intellectual Disability

Autosomal Recessive Cerebellar Ataxia with Mental Retardation

Cerebellar Disorder, Nonprogressive, with Mental Retardation

Vldlr-Associated Cerebellar Hypoplasia

Cerebellar Hypoplasia Vldlr-Associated

Dysequilibrium Syndrome-Vldlr

Des-Vldlr

Vldlr-Ch

Vldlrch

Chmrq1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 1, also known as dysequilibrium syndrome, is related to cerebellar ataxia, mental retardation and dysequlibrium syndrome and cerebellar hypoplasia, and has symptoms including cerebellar ataxia, action tremor and dysdiadochokinesis. An important gene associated with Cerebellar Ataxia, Impaired Intellectual Development, and Dysequilibrium Syndrome 1 is VLDLR (Very Low Density Lipoprotein Receptor). Affiliated tissues include cerebellum and brain, and related phenotypes are intellectual disability and hyperreflexia

Related ID：

MALACARDS：CRB230

OMIM：224050

MESH：D002524