Microcephaly 6, primary, autosomal recessive

Preferred Label : Microcephaly 6, primary, autosomal recessive;

Symbol : MCPH6;

CISMeF acronym : MCPH6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the centromeric protein J gene (CENPJ, 609279.0001);

Prefixed ID : #608393;

Détails

Origin ID

608393;

UMLS CUI

C1842109;

Automatic exact mappings (from CISMeF team)
- microcephaly, primary autosomal recessive, 6 [MeSH concept]
- microcephaly, primary autosomal recessive, 6 [MeSH Supplementary Concept]
- primary autosomal recessive microcephaly 6 [DO Concept]
- symbol withdrawn MCPH6 [HGNC gene]
Broader ORDO disease(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
DO Cross reference
- primary autosomal recessive microcephaly 6 [DO Concept]
Genes related to phenotype
- Centromeric protein j [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Congenital onset [HPO term]
- Global developmental delay [HPO term]
- Heterogeneous [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, moderate [HPO term]
- Microcephaly [HPO term]
- Microtia [HPO term]
- Seizure [HPO term]
- Small cerebral cortex [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microcephaly, primary autosomal recessive, 6 [MeSH Supplementary Concept]
- microcephaly, primary autosomal recessive, 6 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]
- Isolated congenital microcephaly [ORDO Disease]

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