Pilarowski-bjornsson syndrome

Preferred Label : Pilarowski-bjornsson syndrome;

Symbol : PILBOS;

CISMeF acronym : PILBOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Developmental delay and speech apraxia with or without seizures;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chromodomain helicase DNA-binding protein 1 gene (CHD1, 602118.0001);

Prefixed ID : #617682;

Details

Origin ID

617682;

UMLS CUI

C4540131;

Currated CISMeF NLP mapping
- Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome [ORDO Disease]
Genes related to phenotype
- Chromodomain helicase dna-binding protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad eyebrow [HPO term]
- Downslanted palpebral fissures [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Periorbital fullness [HPO term]
- Pointed chin [HPO term]
- Seizure [HPO term]
- Speech apraxia [HPO term]
ORDO concept(s)
- Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients