MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: MCPH4
Number of Symptoms 8
OrphanetNr:
OMIM Id: 604321
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:0001249) Intellectual disability 1089 / 7739
4
(HPO:0001335) Bimanual synkinesia 9 / 7739
5
(HPO:0000718) Aggressive behavior 109 / 7739
6
(OMIM) Microcephaly, 4 to 7 SD below the mean 1 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Mental retardation, mild to moderate 33 / 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 Jamieson et al. (1999) reported 4 sibs, born of consanguineous Moroccan parents, with primary microcephaly (head circumference -5 to -6 SD). The patients also had poor overall growth and mental retardation. Brain CT scan of the proband showed ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene sequencing in 3 Moroccan families with primary microcephaly, including the family originally reported by Jamieson et al. (1999), Genin et al. (2012) identified a homozygous mutation in the CASC5 gene (609173.0001). ...