Cerebellar ataxia, brain abnormalities, and cardiac conduction defects

Preferred Label : Cerebellar ataxia, brain abnormalities, and cardiac conduction defects;

Symbol : CABAC;

Type : Phenotype, molecular basis known;

Prefixed ID : #619576;

Details

Origin ID

619576;

UMLS CUI

C5562005;

Genes related to phenotype
- Exosome component 5 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Astigmatism [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS hypomyelination [HPO term]
- Camptodactyly [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral cortical atrophy [HPO term]
- Clinodactyly [HPO term]
- Deviated nasal septum [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Esotropia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Horizontal nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, profound [HPO term]
- Leukodystrophy [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Mitral regurgitation [HPO term]
- Muscle weakness [HPO term]
- Myoclonic seizure [HPO term]
- Myopia [HPO term]
- Optic atrophy [HPO term]
- Orofacial dyskinesia [HPO term]
- Pachygyria [HPO term]
- Prominent nasal bridge [HPO term]
- Prominent nose [HPO term]
- Retrognathia [HPO term]
- Right bundle branch block [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Thick vermilion border [HPO term]
- Tooth malposition [HPO term]
- Tricuspid regurgitation [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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