Entry Search - 605039 612990 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '605039 612990 (Search in: MIM number)'
Results: 2 entries.

2:
# 605039. BOHRING-OPITZ SYNDROME; BOPS
Cytogenetic location: 20q11.21
Matching terms: 605039
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
20q11.21 Bohring-Opitz syndrome 605039 AD 3 ASXL1 612990
ICD+
SNOMEDCT: 720565000
ORPHA: 97297
Search: 605039 612990 (Search in: MIM number)
Results: 2 entries.

1:
* 612990. ASXL TRANSCRIPTIONAL REGULATOR 1; ASXL1
Cytogenetic location: 20q11.21, Genomic coordinates (GRCh38): 20:32,358,331-32,439,319
Matching terms: 612990

2:
# 605039. BOHRING-OPITZ SYNDROME; BOPS
Cytogenetic location: 20q11.21
Matching terms: 605039