Neurodevelopmental disorder with spastic diplegia and visual defects

Preferred Label : Neurodevelopmental disorder with spastic diplegia and visual defects;

Symbol : NEDSDV;

CISMeF acronym : MRD19; NEDSDV;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 19; MRD19;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-1 catenin gene (CTNNB1, 116806.0017);

Prefixed ID : #615075;

Details

Origin ID

615075;

UMLS CUI

C3554449;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
- CTNNB1 wt Allele [NCIt concept]
- Severe intellectual disability-progressive spastic diplegia syndrome [ORDO Disease]
- autosomal dominant non-syndromic intellectual disability 19 [DO Concept]
Currated CISMeF NLP mapping
- Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects [NCIt concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 19 [DO Concept]
Genes related to phenotype
- Catenin, beta-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Exudative vitreoretinopathy [HPO term]
- Generalized hypopigmentation [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Neurological speech impairment [HPO term]
- Optic atrophy [HPO term]
- Spastic diplegia [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
ORDO concept(s)
- Severe intellectual disability-progressive spastic diplegia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients