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Isolated focal cortical dysplasia type IIb
1 OMIM reference -
1 associated gene
40 connected diseases
No signs/symptoms info
Disease Type of connection
Lymphangioleiomyomatosis
Tuberous sclerosis
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 1F
Severe early-onset axonal neuropathy due to NEFL deficiency
Cowden syndrome
Proteus syndrome
Isolated megalencephaly
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant methemoglobinemia
Baraitser-Winter syndrome
Bardet-Biedl syndrome
Capillary malformation - arteriovenous malformation
Developmental malformations - deafness - dystonia
Estrogen resistance syndrome
FTH1-related iron overload
Familial thoracic aortic aneurysm and aortic dissection
Hb Bart's hydrops fetalis
Hemoglobin H disease
Moyamoya disease
Parkes Weber syndrome
Senior-Loken syndrome
Spinocerebellar ataxia type 1
Translocation renal cell carcinoma
Childhood-onset nemaline myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Severe congenital nemaline myopathy
Typical nemaline myopathy
Neurofibromatosis type 2
Neurofibromatosis type 3
Pulverulent cataract
Synonym(s):
- FCD type IIb
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TSC1 Q92574605284
No signs/symptoms info available.