MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: MCPH6
Number of Symptoms 6
OrphanetNr:
OMIM Id: 608393
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0002342) Intellectual disability, moderate 37 / 7739
3
(HPO:0003577) Congenital onset 133 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(HPO:0001425) Heterogeneous 132 / 7739
6
(HPO:0002472) Small cerebral cortex 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Darvish et al. (2010) reported 2 affected individuals from a consanguineous Iranian family with autosomal recessive primary microcephaly. In addition to severe mental retardation and microcephaly (-4 to -6 SD), the patients had additional features, including small ears, ...
Molecular genetics OMIM In affected members of 3 families with MCPH6, of which 1 was the Brazilian family previously described by Leal et al. (2003) and 2 were Pakistani, Bond et al. (2005) identified a homozygous mutation in the CENPJ gene ...