Microcephaly 9, primary, autosomal recessive

Preferred Label : Microcephaly 9, primary, autosomal recessive;

Symbol : MCPH9;

CISMeF acronym : MCPH9;

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 (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 152-kD centrosomal protein gene (CEP152, 613529.0001);

Prefixed ID : #614852;

Détails

Origin ID

614852;

UMLS CUI

C3553886;

Automatic exact mappings (from CISMeF team)
- centrosomal protein 152 [ORDO Gene]
- centrosomal protein 152 [HGNC gene]
- primary autosomal recessive microcephaly 9 [DO Concept]
DO Cross reference
- primary autosomal recessive microcephaly 9 [DO Concept]
Genes related to phenotype
- Centrosomal protein, 152-kd [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bimanual synkinesia [HPO term]
- Impulsivity [HPO term]
- Microcephaly [HPO term]
- Simplified gyral pattern [HPO term]
ORDO concept(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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