Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2

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OMIM 57 610185 MedGen 42 C2750234 MeSH 44 D002524 D008607

SNOMED-CT via HPO 69 258211005 298390003 40052002 128602000 22066006 162294008 229721007 29164008 62415009 399939002 8011004 224958001 405946002 95646004 32566006 16026008 26079004 23133003 250067008 204043002 237836003 40700009 299032009 more UMLS 73 C2750234

UniProtKB/Swiss-Prot : ⁷⁵ Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2: A congenital cerebellar ataxia associated with cerebellar hypoplasia, mental retardation, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum.

MalaCards based summary : Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2, also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2, is related to cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, and has symptoms including cerebellar ataxia, tremor and dysdiadochokinesis. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 is WDR81 (WD Repeat Domain 81). Affiliated tissues include brain, and related phenotypes are coarse facial features and abnormality of the neck

OMIM : ⁵⁷ Cerebellar ataxia, mental retardation, 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). (610185)

Clinical features from OMIM:

610185

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