MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICALMALFORMATIONS

General Information (adopted from Orphanet):

Synonyms, Signs: MCPH2
Number of Symptoms 33
OrphanetNr:
OMIM Id: 604317
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:0000340) Sloping forehead 86 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0012168) Head-banging 2 / 7739
4
(HPO:0001347) Hyperreflexia 363 / 7739
5
(HPO:0001269) Hemiparesis 51 / 7739
6
(HPO:0000752) Hyperactivity 140 / 7739
7
(HPO:0100710) Impulsivity 16 / 7739
8
(HPO:0001327) Photomyoclonic seizures 125 / 7739
9
(HPO:0001249) Intellectual disability 1089 / 7739
10
(HPO:0001285) Spastic tetraparesis 29 / 7739
11
(HPO:0001263) Global developmental delay 853 / 7739
12
(HPO:0001276) Hypertonia 317 / 7739
13
(HPO:0000750) Delayed speech and language development 197 / 7739
14
(HPO:0000718) Aggressive behavior 109 / 7739
15
(HPO:0001250) Seizures variable [HPO:skoehler] 1245 / 7739
16
(HPO:0001558) Decreased fetal movement 74 / 7739
17
(OMIM) Poor motor development 3 / 7739
18
(OMIM) Abnormal gyral pattern 1 / 7739
19
(HPO:0001302) Pachygyria 60 / 7739
20
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(HPO:0009879) Cortical gyral simplification 24 / 7739
23
(HPO:0002126) Polymicrogyria 64 / 7739
24
(HPO:0002282) Heterotopia 21 / 7739
25
(OMIM) Small brain 2 / 7739
26
(HPO:0010636) Schizencephaly 5 / 7739
27
(HPO:0001339) Lissencephaly 30 / 7739
28
(OMIM) Relative preservation of the cerebellum 1 / 7739
29
(HPO:0002269) Abnormality of neuronal migration 10 / 7739
30
(HPO:0003577) Congenital onset 133 / 7739
31
(OMIM) Simplified gyral pattern 11 / 7739
32
(OMIM) Low forehead 2 / 7739
33
(HPO:0001273) Abnormality of the corpus callosum 20 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the ...
Clinical Description OMIM Roberts et al. (1999) reported 2 unrelated consanguineous Pakistani families with primary microcephaly (SD, -4 to -7 below normal) noted at birth, mild to moderate mental retardation, normal motor development, and no significant dysmorphic features. All parents were ...
Molecular genetics OMIM In affected members of 2 consanguineous Pakistani families with primary microcephaly, previously reported by Roberts et al. (1999), Nicholas et al. (2010) identified 2 different homozygous mutations in the WDR62 gene (R438H; 613583.0006 and 4241dupT; 613583.0007, respectively). In ...