Snijders blok-campeau syndrome

Preferred Label : Snijders blok-campeau syndrome;

Symbol : SNIBCPS;

CISMeF acronym : IDDMSF; SNIBCPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies; IDDMSF;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chromodomain helicase DNA-binding protein 3 gene (CHD3, 602120.0001);

Prefixed ID : #618205;

Détails

Origin ID

618205;

UMLS CUI

C4748701;

Currated CISMeF NLP mapping
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome [ORDO Disease]
- Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Snijders Blok-Campeau syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Chromodomain helicase dna-binding protein 3 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the dentition [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Cerebral visual impairment [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High, narrow palate [HPO term]
- Hypermetropia [HPO term]
- Hypertelorism [HPO term]
- Infantile onset [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Midface retrusion [HPO term]
- Prominent forehead [HPO term]
- Prominent nose [HPO term]
- Scoliosis [HPO term]
- Speech apraxia [HPO term]
- Strabismus [HPO term]
- Stuttering [HPO term]
- Unsteady gait [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Snijders Blok-Campeau syndrome [MeSH Supplementary Concept]

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