MedGen

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. [from GeneReviews]

CAMRQ1 is an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and impaired intellectual development, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). Genetic Heterogeneity of CAMRQ CAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 (610185), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 (613227), caused by mutation in the CA8 gene (114815) on chromosome 8q11; and CAMRQ4 (615268), caused by mutation in the ATP8A2 gene (605870) on chromosome 13q12. [from OMIM]

A tumor (abnormal growth of tissue) of the uterus. [from HPO]