Baker-gordon syndrome

Preferred Label : Baker-gordon syndrome;

Symbol : BAGOS;

CISMeF acronym : NEDIMAE; BAGOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram; NEDIMAE;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the synaptotagmin 1 gene (SYT1, 185605.0001);

Prefixed ID : #618218;

Details

Origin ID

618218;

UMLS CUI

C4748715;

Currated CISMeF NLP mapping
- Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Synaptotagmin 1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Choreoathetosis [HPO term]
- Delayed ability to walk [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- High forehead [HPO term]
- Hyperkinetic movements [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Involuntary movements [HPO term]
- Joint laxity [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Prominent nasal tip [HPO term]
- Scoliosis [HPO term]
- Self-injurious behavior [HPO term]
- Short nose [HPO term]
- Sleep apnea [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) [SNOMED CT concept]

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