Entry Search - 216550 607817 - OMIM
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Search: '216550 607817 (Search in: MIM number)'
Results: 2 entries.

2:
# 216550. COHEN SYNDROME; COH1
Cytogenetic location: 8q22.2
Matching terms: 216550
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
8q22.2 Cohen syndrome 216550 AR 3 VPS13B 607817
ICD+
SNOMEDCT: 56604005
ORPHA: 193, 217315
DO: 0111590
Search: 216550 607817 (Search in: MIM number)
Results: 2 entries.

1:
* 607817. VACUOLAR PROTEIN SORTING 13 HOMOLOG B; VPS13B
Cytogenetic location: 8q22.2, Genomic coordinates (GRCh38): 8:99,013,274-99,877,580
Matching terms: 607817

2:
# 216550. COHEN SYNDROME; COH1
Cytogenetic location: 8q22.2
Matching terms: 216550