MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: MCPH8
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614673
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000278) Retrognathia 100 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000340) Sloping forehead 86 / 7739
4
(HPO:0010864) Intellectual disability, severe 120 / 7739
5
(HPO:0003577) Congenital onset 133 / 7739
6
(OMIM) Unintelligible speech 2 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hussain et al. (2012) reported 2 sibs, born of consanguineous Pakistani parents, with primary microcephaly apparent at birth. Each had a sloping forehead, retrognathia, severe cognitive deficits, and unintelligible speech at age 5 years. One died at age ...
Molecular genetics OMIM In 2 sibs, born of consanguineous Pakistani parents, with autosomal recessive primary microcephaly-8, Hussain et al. (2012) identified a homozygous truncating mutation in the CEP135 gene (611423.0001). The mutation was identified by genomewide linkage analysis followed by candidate ...