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Disease Browser
Parent Node: Malformations of Cortical Development, Group I (D065703)
..Starting node ..Focal cortical dysplasia of Taylor (C537067)
Child Nodes:
Sister Nodes:
..Cerebellar Granule Cell Hypertrophy and Megalencephaly (C563565)
..Focal cortical dysplasia of Taylor (C537067)
..Megalencephaly (D058627) 23
..Microcephaly (D008831) 140
..Tuberous Sclerosis (D014402) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4344

Name:

Focal cortical dysplasia of Taylor

Definition:

Alternative IDs:

OMIM:607341

ParentIDs:

MESH:D065703

TreeNumbers:

C10.500.507.400/C537067 |C16.131.666.507.400/C537067

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: C537067
MeSH: C537067
OMIM: 607341;

Genes: TSC1;

Phenotypes

1	HP:0003581	Adult onset
2	HP:0003593	Infantile onset
3	HP:0002446	Astrocytosis
4	HP:0100543	Cognitive impairment
5	HP:0002539	Cortical dysplasia
6	HP:0002384	Focal impaired awareness seizure
7	HP:0007042	Focal white matter lesions
8	HP:0001269	Hemiparesis
9	HP:0001249	Intellectual disability
10	HP:0001428	Somatic mutation
11	HP:0003745	Sporadic

Disease Causing ClinVar Variants