Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2

Preferred Label : Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2;

Symbol : CAMRQ2;

CISMeF acronym : CAMRQ2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein 81 gene (WDR81, 614218.0001);

Prefixed ID : #610185;

Details

Origin ID

610185;

UMLS CUI

C2750234;

Automatic exact mappings (from CISMeF team)
- WD repeat domain 81 [ORDO Gene]
- WD repeat domain 81 [HGNC gene]
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 [MeSH Supplementary Concept]
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 [MeSH concept]
DO Cross reference
- cerebellar ataxia, mental retardation and dysequlibrium syndrome [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein 81 [OMIM gene]
HPO term(s)
- Abnormality of the neck [HPO term]
- Aplasia of the inferior half of the cerebellar vermis [HPO term]
- Atrophy of the dentate nucleus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Coarse facial features [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Hirsutism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Short foot [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Small feet [HPO term]
- Small hand [HPO term]
- Strabismus [HPO term]
- Thoracic kyphosis [HPO term]
- Thoracic scoliosis [HPO term]
- Tremor [HPO term]
- Truncal ataxia [HPO term]
ORDO concept(s)
- Dysequilibrium syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 [MeSH Supplementary Concept]
- cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 [MeSH concept]

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