Cebalid syndrome

Preferred Label : Cebalid syndrome;

Symbol : CEBALID;

CISMeF acronym : CEBALID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development; Mn1 C-terminal truncation syndrome; MCTT;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MN1 protooncogene, transcriptional regulator gene (MN1, 156100.0001);

Prefixed ID : #618774;

Détails

Origin ID

618774;

UMLS CUI

C5394044;

Genes related to phenotype
- Mn1 protooncogene, transcriptional regulator [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Depressed nasal ridge [HPO term]
- Dolichocephaly [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duane anomaly [HPO term]
- Feeding difficulties [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Narrow forehead [HPO term]
- Neurological speech impairment [HPO term]
- Nystagmus [HPO term]
- Plagiocephaly [HPO term]
- Platystencephaly [HPO term]
- Polymicrogyria [HPO term]
- Polyphagia [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Short nose [HPO term]
- Strabismus [HPO term]
- Thick eyebrow [HPO term]
- Turricephaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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