Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies

Preferred Label : Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies;

Symbol : NEDBAVC;

CISMeF acronym : NEDBAVC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DEAH-box helicase 37 gene (DHX37, 617362.0001);

Prefixed ID : #618731;

Détails

Origin ID

618731;

UMLS CUI

C5231481;

Genes related to phenotype
- Deah-box helicase 37 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Broad neck [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cervical platyspondyly [HPO term]
- Colpocephaly [HPO term]
- Delayed CNS myelination [HPO term]
- Downturned corners of mouth [HPO term]
- Facial asymmetry [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Infantile spasms [HPO term]
- Macrodontia [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Nystagmus [HPO term]
- Ophthalmoplegia [HPO term]
- Plagiocephaly [HPO term]
- Pointed chin [HPO term]
- Polymicrogyria [HPO term]
- Protruding ear [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Small nail [HPO term]
- Strabismus [HPO term]
- Tooth agenesis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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