Entry Search - 138253 245570 - OMIM
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Search: '138253 245570 (Search in: MIM number)'
Results: 2 entries.

1:
* 138253. GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A; GRIN2A
Cytogenetic location: 16p13.2, Genomic coordinates (GRCh38): 16:9,753,404-10,182,908
Matching terms: 138253
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
16p13.2 Epilepsy, focal, with speech disorder and with or without impaired intellectual development 245570 AD 3
ICD+
SNOMEDCT: 230438007
ICD10CM: G40.8

2:
# 245570. EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; FESD
LANDAU-KLEFFNER SYNDROME, INCLUDED; LKS, INCLUDED
Cytogenetic location: 16p13.2
Matching terms: 245570
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
16p13.2 Epilepsy, focal, with speech disorder and with or without impaired intellectual development 245570 AD 3 GRIN2A 138253
ICD+
SNOMEDCT: 230438007
ICD10CM: G40.8
ORPHA: 163721, 1945, 289266, 725, 98818
DO: 2538
Search: 138253 245570 (Search in: MIM number)
Results: 2 entries.

1:
* 138253. GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 2A; GRIN2A
Cytogenetic location: 16p13.2, Genomic coordinates (GRCh38): 16:9,753,404-10,182,908
Matching terms: 138253

2:
# 245570. EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT; FESD
LANDAU-KLEFFNER SYNDROME, INCLUDED; LKS, INCLUDED
Cytogenetic location: 16p13.2
Matching terms: 245570