MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: MCPH3
Number of Symptoms 19
OrphanetNr:
OMIM Id: 604804
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:0000520) Proptosis rare [HPO:skoehler] 192 / 7739
3
(HPO:0000340) Sloping forehead 86 / 7739
4
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
5
(HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
6
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0002342) Intellectual disability, moderate 37 / 7739
9
(OMIM) Small frontal lobes (in one patient) 1 / 7739
10
(OMIM) Mental retardation, mild to moderate 33 / 7739
11
(HPO:0009879) Cortical gyral simplification rare [HPO:skoehler] 24 / 7739
12
(OMIM) Partial absence of the corpus callosum (in one patient) 1 / 7739
13
(OMIM) Microcephaly, severe 4 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(HPO:0002472) Small cerebral cortex 4 / 7739
16
(OMIM) Small but structurally normal cerebral cortex 1 / 7739
17
(OMIM) Simplified gyral pattern 11 / 7739
18
(OMIM) Conical-shaped teeth (in one patient) 1 / 7739
19
(OMIM) Tonic clonic seizures, infrequent (in one patient) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Pagnamenta et al. (2012) reported a 6-year-old girl, born of consanguineous Somali parents, with primary microcephaly. She had delayed psychomotor development, microcephaly (-8.9 SD), and mild muscular hypotonia. The patient was diagnosed at age 3 years 10 months ...
Molecular genetics OMIM In affected members of each of 2 families with MCPH3, one of which was previously described by Moynihan et al. (2000), Bond et al. (2005) identified a homozygous mutation in the CDK5RAP2 gene (608201.0001-608201.0002, respectively). Each mutation was ...