Microcephaly 4, primary, autosomal recessive

Preferred Label : Microcephaly 4, primary, autosomal recessive;

Symbol : MCPH4;

CISMeF acronym : MCPH4;

Type : Phenotype, molecular basis known;

Description : Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cancer susceptibility candidate 5 gene (CASC5, 609173.0001);

Prefixed ID : #604321;

Details

Origin ID

604321;

UMLS CUI

C1858516;

Automatic exact mappings (from CISMeF team)
- KNL1 wt Allele [NCIt concept]
- microcephaly, primary autosomal recessive, 4 [MeSH Supplementary Concept]
- microcephaly, primary autosomal recessive, 4 [MeSH concept]
- primary autosomal recessive microcephaly 4 [DO Concept]
- symbol withdrawn MCPH4 [HGNC gene]
Broader ORDO disease(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
DO Cross reference
- primary autosomal recessive microcephaly 4 [DO Concept]
Genes related to phenotype
- Kinetochore scaffold 1 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bimanual synkinesia [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Impulsivity [HPO term]
- Intellectual disability [HPO term]
- Low hanging columella [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Primary microcephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sloping forehead [HPO term]
- Synophrys [HPO term]
- Thick eyebrow [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, 4 [MeSH Supplementary Concept]
- microcephaly, primary autosomal recessive, 4 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]
- Isolated congenital microcephaly [ORDO Disease]

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