PACHYGYRIA, FRONTOTEMPORAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 610279
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:0000506) Telecanthus 156 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000565) Esotropia 58 / 7739
4
 (HPO:0002373) Febrile seizures 37 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (HPO:0002342) Intellectual disability, moderate 37 / 7739
7
 (OMIM) Deep tendon reflexes slightly decreased 1 / 7739
8
 (OMIM) Neuromuscular tone slightly decreased 1 / 7739
9
 (HPO:0001302) Pachygyria 60 / 7739
10
 (OMIM) Pachygyria, bilateral frontotemporal 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ramirez et al. (2004) described 3 sibs, born to nonconsanguineous Mexican parents, who had bilateral frontotemporal pachygyria without polymicrogyria. The 2 sisters and their brother shared the additional features of moderate mental retardation, esotropia, telecanthus or hypertelorism, and ...