Neurodevelopmental disorder with or without variable brain abnormalities

Preferred Label : Neurodevelopmental disorder with or without variable brain abnormalities;

Symbol : NEDBA;

CISMeF acronym : NEDBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mitogen-activated protein kinase 8-interacting protein 3 gene (MAPK8IP3, 605431.0001);

Prefixed ID : #618443;

Details

Origin ID

618443;

UMLS CUI

C5193102;

Currated CISMeF NLP mapping
- Neurodevelopmental Disorder with or without Variable Brain Abnormalities [NCIt concept]
Genes related to phenotype
- Mitogen-activated protein kinase 8-interacting protein 3 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Ataxia [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Childhood onset [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Compulsive behaviors [HPO term]
- Deeply set eye [HPO term]
- Delayed ability to walk [HPO term]
- Delayed myelination [HPO term]
- Emotional lability [HPO term]
- Encopresis [HPO term]
- Full cheeks [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized-onset seizure [HPO term]
- Genu valgum [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- Hyperlordosis [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrodontia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Myopic astigmatism [HPO term]
- Narrow mouth [HPO term]
- Narrow palpebral fissure [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Perisylvian polymicrogyria [HPO term]
- Pes valgus [HPO term]
- Prominent nasal bridge [HPO term]
- Protruding ear [HPO term]
- Round face [HPO term]
- Scoliosis [HPO term]
- Short 5th finger [HPO term]
- Short foot [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Slender finger [HPO term]
- Small hand [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [HPO term]
- Thin upper lip vermilion [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Unsteady gait [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Non-specific syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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