Brunet-wagner neurodevelopmental syndrome

Preferred Label : Brunet-wagner neurodevelopmental syndrome;

Symbol : BRUWAG;

Type : Phenotype, molecular basis known;

Prefixed ID : #619690;

Details

Origin ID

619690;

UMLS CUI

C5562056;

Genes related to phenotype
- Rb transcriptional corepressor-like 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Delayed ability to crawl [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Gaze-evoked horizontal nystagmus [HPO term]
- Horizontal nystagmus [HPO term]
- Hypertelorism [HPO term]
- Increased skull ossification [HPO term]
- Low anterior hairline [HPO term]
- Myoclonic seizure [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal onset [HPO term]
- Optic atrophy [HPO term]
- Periorbital fullness [HPO term]
- Round face [HPO term]
- Self-injurious behavior [HPO term]
- Severe global developmental delay [HPO term]
- Strabismus [HPO term]
- Thick vermilion border [HPO term]
- Thin corpus callosum [HPO term]
- Thin eyebrow [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients