Dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy

Preferred Label : Dandy-walker malformation with impaired intellectual development, macrocephaly, myopia, and brachytelephalangy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy;

Inheritance : Autosomal recessive;

Prefixed ID : 220219;

Details

Origin ID

220219;

UMLS CUI

C1857352;

Currated CISMeF NLP mapping
- Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy [MeSH concept]
- dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy [MeSH Supplementary Concept]
HPO term(s)
- Agenesis of cerebellar vermis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nail [HPO term]
- Cranial nerve paralysis [HPO term]
- Dandy-Walker malformation [HPO term]
- Dilated fourth ventricle [HPO term]
- Elevated imprint of the transverse sinuses [HPO term]
- Hydrocephalus [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Macrocephaly [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Partial absence of cerebellar vermis [HPO term]
- Posterior fossa cyst at the fourth ventricle [HPO term]
- Short and broad fingernails [HPO term]
- Short nail [HPO term]
- Shortening of all distal phalanges of the fingers [HPO term]
- Thinning and bulging of the posterior fossa bones [HPO term]
- Truncal ataxia [HPO term]
ORDO concept(s)
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome [ORDO Disease]
See also inter- (CISMeF)
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy [MeSH concept]
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome [ORDO Disease]
- dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients