Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation (CAVIPMR)

Alias:

Cavipmr

Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome

Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation;

Atrophy, Cerebellar, Visual Impairment, Psychomotor Retardation

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation, also known as cavipmr, is related to cakut. An important gene associated with Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation is EMC1 (ER Membrane Protein Complex Subunit 1). Affiliated tissues include eye and cerebellum, and related phenotypes are global developmental delay and delayed speech and language development

Related ID：

MALACARDS：CRB165

OMIM：616875

MESH：D002526