Vulto-van silfhout-de vries syndrome

Preferred Label : Vulto-van silfhout-de vries syndrome;

Symbol : VSVS;

CISMeF acronym : MRD24; VSVS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures; IDDISBAS; MRD24; Mental retardation, autosomal dominant 24;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the deformed epidermal autoregulatory factor 1 homolog gene (DEAF1, 602635.0001);

Prefixed ID : #615828;

Details

Origin ID

615828;

UMLS CUI

C4014414;

Currated CISMeF NLP mapping
- Vulto-van Silfout-de Vries syndrome [DO Concept]
DO Cross reference
- Vulto-van Silfout-de Vries syndrome [DO Concept]
Genes related to phenotype
- Deaf1 transcription factor [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Gait disturbance [HPO term]
- Global developmental delay [HPO term]
- Horizontal eyebrow [HPO term]
- Intellectual disability [HPO term]
- Mandibular prognathia [HPO term]
- Mood swings [HPO term]
- Poor eye contact [HPO term]
- Recurrent infections [HPO term]
- Sacral dimple [HPO term]
- Tented upper lip vermilion [HPO term]
- Thick lower lip vermilion [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Vulto-van Silfout-de Vries syndrome [DO Concept]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

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