Entry Search - 268300 269000 609353 - OMIM
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Search: '268300 269000 609353 (Search in: MIM number)'
Results: 3 entries.

1:
# 268300. ROBERTS-SC PHOCOMELIA SYNDROME; RBS
Cytogenetic location: 8p21.1
Matching terms: 268300
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
8p21.1 Roberts-SC phocomelia syndrome 268300 AR 3 ESCO2 609353
ICD+
SNOMEDCT: 48718006
ORPHA: 3103
DO: 5325

2:
^ 269000. MOVED TO 268300
Matching terms: 269000

3:
* 609353. ESTABLISHMENT OF SISTER CHROMATID COHESION N-ACETYLTRANSFERASE 2; ESCO2
Cytogenetic location: 8p21.1, Genomic coordinates (GRCh38): 8:27,771,974-27,819,660
Matching terms: 609353
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
8p21.1 Juberg-Hayward syndrome 216100 AR 3
Roberts-SC phocomelia syndrome 268300 AR 3
ICD+
SNOMEDCT: 48718006, 721874001
Search: 268300 269000 609353 (Search in: MIM number)
Results: 3 entries.

1:
# 268300. ROBERTS-SC PHOCOMELIA SYNDROME; RBS
Cytogenetic location: 8p21.1
Matching terms: 268300

2:
^ 269000. MOVED TO 268300
Matching terms: 269000

3:
* 609353. ESTABLISHMENT OF SISTER CHROMATID COHESION N-ACETYLTRANSFERASE 2; ESCO2
Cytogenetic location: 8p21.1, Genomic coordinates (GRCh38): 8:27,771,974-27,819,660
Matching terms: 609353