Neurodevelopmental disorder with or without autism or seizures

Preferred Label : Neurodevelopmental disorder with or without autism or seizures;

Symbol : NEDAUS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619239;

Détails

Origin ID

619239;

UMLS CUI

C5543225;

Genes related to phenotype
- Cullin 3 [OMIM gene]
HPO term(s)
- Absent thumb [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid uvula [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- EEG with burst suppression [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Hyperactivity [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Infantile spasms [HPO term]
- Intellectual disability, mild [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Pulmonic stenosis [HPO term]
- Seizure [HPO term]
- Submucous cleft hard palate [HPO term]
- Tonic seizure [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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