MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: MCPH9
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614852
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0100710) Impulsivity 16 / 7739
3
(HPO:0001335) Bimanual synkinesia 9 / 7739
4
(HPO:0000718) Aggressive behavior 109 / 7739
5
(OMIM) Simplified gyral pattern 11 / 7739
6
(OMIM) Jerky movements in infancy 1 / 7739
7
(OMIM) Reduced brain size 1 / 7739
8
(OMIM) Microcephaly, 5 to 7 SD below the mean 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(HPO:0009879) Cortical gyral simplification 24 / 7739
11
(OMIM) Mild psychomotor delay 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Guernsey et al. (2010) reported 3 unrelated patients from eastern Canada with primary microcephaly. In all families, both parents were of Acadian descent. All patients had head circumferences between 5 and 7 standard deviations below the mean, and ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing of 3 unrelated patients from eastern Canada with primary microcephaly, Guernsey et al. (2010) identified homozygous or compound heterozygous mutations in the CEP152 gene (613529.0001-613529.0002) on chromosome 15q21. ...