Cytoscape Web
Click node...

Cobblestone lissencephaly without muscular or ocular involvement
1 OMIM reference -
1 associated gene
25 connected diseases
No signs/symptoms info
Disease Type of connection
Alternating hemiplegia of childhood
Benign paroxysmal torticollis of infancy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Spinocerebellar ataxia type 6
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Spinocerebellar ataxia type 7
Autosomal recessive nonsyndromic intellectual deficit
Camurati-Engelmann disease
Cystic fibrosis
Gray platelet syndrome
Jeune syndrome
Saldino-Mainzer syndrome
Bethlem myopathy
Congenital muscular dystrophy, Ullrich type
Infantile systemic hyalinosis
Juvenile hyaline fibromatosis
Congenital muscular dystrophy type 1A
Familial isolated dilated cardiomyopathy
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, Herlitz type
LOC syndrome
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Synonym(s):
- Cobblestone lissencephaly without muscular or eye involvement
- Lissencephaly type 2 without muscular or eye involvement
- Lissencephaly type 2 without muscular or ocular involvement
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LAMB1 P07942150240
No signs/symptoms info available.