Entry Search - 116806 615075 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '116806 615075 (Search in: MIM number)'
Results: 2 entries.

1:
* 116806. CATENIN, BETA-1; CTNNB1
Cytogenetic location: 3p22.1, Genomic coordinates (GRCh38): 3:41,199,505-41,240,443
Matching terms: 116806
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
3p22.1 Colorectal cancer, somatic 114500 3
Exudative vitreoretinopathy 7 617572 AD 3
Hepatocellular carcinoma, somatic 114550 3
Medulloblastoma, somatic 155255 3
Neurodevelopmental disorder with spastic diplegia and visual defects 615075 AD 3
Ovarian cancer, somatic 167000 3
Pilomatricoma, somatic 132600 3

2:
# 615075. NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS; NEDSDV
Cytogenetic location: 3p22.1
Matching terms: 615075
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
3p22.1 Neurodevelopmental disorder with spastic diplegia and visual defects 615075 AD 3 CTNNB1 116806
ICD+
ORPHA: 404473
DO: 0070049
Search: 116806 615075 (Search in: MIM number)
Results: 2 entries.

1:
* 116806. CATENIN, BETA-1; CTNNB1
Cytogenetic location: 3p22.1, Genomic coordinates (GRCh38): 3:41,199,505-41,240,443
Matching terms: 116806

2:
# 615075. NEURODEVELOPMENTAL DISORDER WITH SPASTIC DIPLEGIA AND VISUAL DEFECTS; NEDSDV
Cytogenetic location: 3p22.1
Matching terms: 615075