Diencephalic-mesencephalic junction dysplasia syndrome 1

Preferred Label : Diencephalic-mesencephalic junction dysplasia syndrome 1;

Symbol : DMJDS1;

CISMeF acronym : MISSBC; DMJDS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MISSBC; Microcephaly, seizures, spasticity, and brain calcifications;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protocadherin 12 gene (PCDH12, 605622.0001);

Prefixed ID : #251280;

Details

Origin ID

251280;

UMLS CUI

C4538630;

Genes related to phenotype
- Protocadherin 12 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dystonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Progressive microcephaly [HPO term]
- Secondary microcephaly [HPO term]
- Spastic tetraplegia [HPO term]
- Visual impairment [HPO term]
See also inter- (CISMeF)
- Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) [SNOMED CT concept]
- Microcephaly with spastic quadriplegia [MeSH concept]
- Microcephaly-brain defect-spasticity-hypernatremia syndrome [ORDO Disease]
- microcephaly with spastic quadriplegia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly with spastic quadriplegia [MeSH concept]
- Microcephaly-brain defect-spasticity-hypernatremia syndrome [ORDO Disease]
- microcephaly with spastic quadriplegia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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