Entry Search - 138249 614254 617820 - OMIM
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Search: '138249 614254 617820 (Search in: MIM number)'
Results: 3 entries.

1:
* 138249. GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1
Cytogenetic location: 9q34.3, Genomic coordinates (GRCh38): 9:137,139,154-137,168,756
Matching terms: 138249
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
9q34.3 Developmental and epileptic encephalopathy 101 619814 AR 3
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 614254 AD 3
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 617820 AR 3

2:
# 617820. NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR
Cytogenetic location: 9q34.3
Matching terms: 617820
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
9q34.3 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 617820 AR 3 GRIN1 138249
ICD+
ORPHA: 88616

3:
# 614254. NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD
Cytogenetic location: 9q34.3
Matching terms: 614254
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
9q34.3 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 614254 AD 3 GRIN1 138249
ICD+
ORPHA: 178469
DO: 0070038
Search: 138249 614254 617820 (Search in: MIM number)
Results: 3 entries.

1:
* 138249. GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL-D-ASPARTATE, SUBUNIT 1; GRIN1
Cytogenetic location: 9q34.3, Genomic coordinates (GRCh38): 9:137,139,154-137,168,756
Matching terms: 138249

2:
# 617820. NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR
Cytogenetic location: 9q34.3
Matching terms: 617820

3:
# 614254. NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD
Cytogenetic location: 9q34.3
Matching terms: 614254