Microcephaly 13, primary, autosomal recessive

Preferred Label : Microcephaly 13, primary, autosomal recessive;

Symbol : MCPH13;

CISMeF acronym : MCPH13;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the centromeric protein E gene (CENPE, 117143.0001);

Prefixed ID : #616051;

Details

Origin ID

616051;

UMLS CUI

C4015080;

Automatic exact mappings (from CISMeF team)
- primary autosomal recessive microcephaly 13 [DO Concept]
DO Cross reference
- primary autosomal recessive microcephaly 13 [DO Concept]
Genes related to phenotype
- Centromeric protein e [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Intrauterine growth retardation [HPO term]
- Macrotia [HPO term]
- Metaphyseal sclerosis [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nystagmus [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Primary microcephaly [HPO term]
- Prominent nose [HPO term]
- Restrictive cardiomyopathy [HPO term]
- Round face [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Small for gestational age [HPO term]
- Small hand [HPO term]
- Subglottic stenosis [HPO term]
- Tonic seizure [HPO term]
ORDO concept(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
- Seckel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients