Cerebellar dysfunction with variable cognitive and behavioral abnormalities

Preferred Label : Cerebellar dysfunction with variable cognitive and behavioral abnormalities;

Symbol : CECBA;

CISMeF acronym : CANPMR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CANPMR; Cerebellar ataxia, nonprogressive, with mental retardation;

Description : Nonprogressive cerebellar ataxia with mental retardation is an autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable (summary by Thevenon et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by disruption of the calmodulin-binding transcription activator 1 gene (CAMTA1, 611501.0001);

Prefixed ID : #614756;

Details

Origin ID

614756;

UMLS CUI

C3553661;

Automatic exact mappings (from CISMeF team)
- CAMTA1 wt Allele [NCIt concept]
- nonprogressive cerebellar ataxia with mental retardation [DO Concept]
Currated CISMeF NLP mapping
- Disequilibrium syndrome [MedDRA LLT]
- Dysequilibrium syndrome [MeSH concept]
- Non-progressive cerebellar ataxia with intellectual disability [ORDO Disease]
- Non-progressive cerebellar ataxia with intellectual disability (disorder) [SNOMED CT concept]
- dysequilibrium syndrome [MeSH Supplementary Concept]
DO Cross reference
- nonprogressive cerebellar ataxia with mental retardation [DO Concept]
Genes related to phenotype
- Calmodulin-binding transcription activator 1 [OMIM gene]
HPO term(s)
- 2-3 toe cutaneous syndactyly [HPO term]
- 2-4 toe cutaneous syndactyly [HPO term]
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Astigmatism [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Broad forehead [HPO term]
- Broad-based gait [HPO term]
- Bulbous nose [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Chronic constipation [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Flared nostrils [HPO term]
- Frontal upsweep of hair [HPO term]
- Gait ataxia [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized myoclonic-atonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hand tremor [HPO term]
- Hiatus hernia [HPO term]
- High palate [HPO term]
- Hippocampal atrophy [HPO term]
- Hyperactivity [HPO term]
- Hyperextensibility at elbow [HPO term]
- Hypertelorism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Large forehead [HPO term]
- Long eyelashes [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Nasal speech [HPO term]
- Neonatal hypotonia [HPO term]
- Palpebral edema [HPO term]
- Pointed chin [HPO term]
- Poor gross motor coordination [HPO term]
- Posteriorly rotated ears [HPO term]
- Protruding ear [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short ear [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin vermilion border [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Non-progressive cerebellar ataxia with intellectual disability [ORDO Disease]
See also inter- (CISMeF)
- Dysequilibrium syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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