Entry Search - 218000 604878 - OMIM
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Search: '218000 604878 (Search in: MIM number)'
Results: 2 entries.

1:
* 604878. SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 6; SLC12A6
POTASSIUM-CHLORIDE COTRANSPORTER 3, ISOFORM A, INCLUDED; KCC3A, INCLUDED
Cytogenetic location: 15q14, Genomic coordinates (GRCh38): 15:34,229,784-34,338,057
Matching terms: 604878
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
15q14 Agenesis of the corpus callosum with peripheral neuropathy 218000 AR 3
Charcot-Marie-Tooth disease, axonal, type 2II 620068 AD 3
ICD+
SNOMEDCT: 702439002

2:
# 218000. AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
Cytogenetic location: 15q14
Matching terms: 218000
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
15q14 Agenesis of the corpus callosum with peripheral neuropathy 218000 AR 3 SLC12A6 604878
ICD+
SNOMEDCT: 702439002
ORPHA: 1496
DO: 0090003
Search: 218000 604878 (Search in: MIM number)
Results: 2 entries.

1:
* 604878. SOLUTE CARRIER FAMILY 12 (POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 6; SLC12A6
POTASSIUM-CHLORIDE COTRANSPORTER 3, ISOFORM A, INCLUDED; KCC3A, INCLUDED
Cytogenetic location: 15q14, Genomic coordinates (GRCh38): 15:34,229,784-34,338,057
Matching terms: 604878

2:
# 218000. AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
Cytogenetic location: 15q14
Matching terms: 218000