Megalencephaly

General Information (adopted from Orphanet):

Synonyms, Signs: Macrencephaly
Number of Symptoms 19
OrphanetNr: 2477
OMIM Id: 155350
248000
ICD-10: Q04.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Cerebral malformation
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000040) Long penis Frequent [Orphanet] 17 / 7739
2
 (HPO:0000053) Macroorchidism Frequent [Orphanet] 18 / 7739
3
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
4
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
5
 (HPO:0000307) Pointed chin Very frequent [Orphanet] 45 / 7739
6
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
7
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
8
 (HPO:0000269) Prominent occiput Very frequent [Orphanet] 43 / 7739
9
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
10
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
11
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
12
 (HPO:0001249) Intellectual disability 1089 / 7739
13
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
14
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
15
 (HPO:0001956) Truncal obesity Very frequent [Orphanet] 39 / 7739
16
 (HPO:0001631) Atria septal defect Frequent [Orphanet] 274 / 7739
17
 (HPO:0001355) Megalencephaly 39 / 7739
18
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: