Liang-wang syndrome

Preferred Label : Liang-wang syndrome;

Symbol : LIWAS;

CISMeF acronym : LIWAS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, calcium-activated, large conductance, subfamily M, alpha member 1 gene (KCNMA1, 600150.0007);

Prefixed ID : #618729;

Détails

Origin ID

618729;

UMLS CUI

C5231479;

Genes related to phenotype
- Potassium channel, calcium-activated, large conductance, subfamily M, alpha member 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Delayed speech and language development [HPO term]
- Diastema [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Dystonia [HPO term]
- Everted lower lip vermilion [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Gingival overgrowth [HPO term]
- Hypertelorism [HPO term]
- Infantile onset [HPO term]
- Laryngomalacia [HPO term]
- Macrodontia of permanent maxillary central incisor [HPO term]
- Macroglossia [HPO term]
- Megalocornea [HPO term]
- Nystagmus [HPO term]
- Status epilepticus [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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