MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: MCPH5
Number of Symptoms 20
OrphanetNr:
OMIM Id: 608716
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:0000252) Microcephaly 832 / 7739
2
(HPO:0000340) Sloping forehead 86 / 7739
3
(HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
4
(HPO:0001327) Photomyoclonic seizures 125 / 7739
5
(HPO:0000750) Delayed speech and language development 197 / 7739
6
(HPO:0001250) Seizures Rare [HPO:probinson] 1245 / 7739
7
(HPO:0000752) Hyperactivity 140 / 7739
8
(HPO:0001270) Motor delay 322 / 7739
9
(HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0004322) Short stature 1232 / 7739
12
(OMIM) Simplified cortical gyration pattern 1 / 7739
13
(HPO:0009879) Cortical gyral simplification 24 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
16
(HPO:0002472) Small cerebral cortex 4 / 7739
17
(HPO:0002119) Ventriculomegaly 253 / 7739
18
(HPO:0003577) Congenital onset 133 / 7739
19
(OMIM) Mental retardation, mild to severe 14 / 7739
20
(HPO:0002539) Cortical dysplasia rare [HPO:skoehler] 19 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipital-frontal (OFC) circumference, usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short ...
Clinical Description OMIM Pattison et al. (2000) performed DNA analysis on 3 living individuals in separate sibships related as cousins in a consanguineous Pakistani family with primary microcephaly showing linkage to chromosome 1q31. All were microcephalic from birth with head circumferences ...
Molecular genetics OMIM In each of 4 consanguineous northern Pakistani families with primary microcephaly, Bond et al. (2002) identified a homozygous mutation introducing a premature stop codon into the predicted ASPM open reading frame (605481.0001-605481.0004). Bond et al. (2002) were unable ...