Entry Search - 604447 617173 617182 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '604447 617173 617182 (Search in: MIM number)'
Results: 3 entries.

1:
* 604447. GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-5; GNB5
Cytogenetic location: 15q21.2, Genomic coordinates (GRCh38): 15:52,115,100-52,191,392
Matching terms: 604447
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
15q21.2 Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia 617173 AR 3
Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia 617182 AR 3
ICD+
SNOMEDCT: 1186711002

2:
# 617182. LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT CARDIAC ARRHYTHMIA; LDMLS2
Cytogenetic location: 15q21.2
Matching terms: 617182
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
15q21.2 Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia 617182 AR 3 GNB5 604447
ICD+
ORPHA: 542306

3:
# 617173. LODDER-MERLA SYNDROME, TYPE 1, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CARDIAC ARRHYTHMIA; LDMLS1
Cytogenetic location: 15q21.2
Matching terms: 617173
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
15q21.2 Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia 617173 AR 3 GNB5 604447
ICD+
SNOMEDCT: 1186711002
ORPHA: 542306
DO: 0081008
Search: 604447 617173 617182 (Search in: MIM number)
Results: 3 entries.

1:
* 604447. GUANINE NUCLEOTIDE-BINDING PROTEIN, BETA-5; GNB5
Cytogenetic location: 15q21.2, Genomic coordinates (GRCh38): 15:52,115,100-52,191,392
Matching terms: 604447

2:
# 617182. LODDER-MERLA SYNDROME, TYPE 2, WITH DEVELOPMENTAL DELAY AND WITH OR WITHOUT CARDIAC ARRHYTHMIA; LDMLS2
Cytogenetic location: 15q21.2
Matching terms: 617182

3:
# 617173. LODDER-MERLA SYNDROME, TYPE 1, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CARDIAC ARRHYTHMIA; LDMLS1
Cytogenetic location: 15q21.2
Matching terms: 617173