Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3- MedGen UID:
- 442496
- •Concept ID:
- C2750509
- •
- Disease or Syndrome
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).
For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4- MedGen UID:
- 815307
- •Concept ID:
- C3808977
- •
- Disease or Syndrome
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and impaired intellectual development (summary by Gulsuner et al., 2011).
For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1- MedGen UID:
- 1639436
- •Concept ID:
- C4551552
- •
- Disease or Syndrome
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.