Dystonia 28, childhood-onset

Preferred Label : Dystonia 28, childhood-onset;

Symbol : DYT28;

CISMeF acronym : DYT28;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lysine-specific methyltransferase 2B gene (KMT2B, 606834.0001);

Prefixed ID : #617284;

Details

Origin ID

617284;

UMLS CUI

C4310633;

Currated CISMeF NLP mapping
- Dystonia 28 [ORDO Disease]
- Dystonia 28 (disorder) [SNOMED CT concept]
Genes related to phenotype
- Lysine-specific methyltransferase 2b [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bulbous nose [HPO term]
- Cognitive impairment [HPO term]
- Craniofacial dystonia [HPO term]
- Dysarthria [HPO term]
- Dysphonia [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Incomplete penetrance [HPO term]
- Laryngeal dystonia [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Myoclonus [HPO term]
- Oromandibular dystonia [HPO term]
- Progressive [HPO term]
- Retrocollis [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Tip-toe gait [HPO term]
- Toe walking [HPO term]
- Torticollis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 28 (disorder) [SNOMED CT concept]

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