MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 615937
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly 298 / 7739
2
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
5
 (HPO:0000974) Hyperextensible skin 59 / 7739
6
 (HPO:0000965) Cutis marmorata 46 / 7739
7
 (HPO:0002119) Ventriculomegaly 253 / 7739
8
 (HPO:0000238) Hydrocephalus 278 / 7739
9
 (HPO:0007206) Hemimegalencephaly 2 / 7739
10
 (HPO:0002126) Polymicrogyria 64 / 7739
11
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: