Entry Search - 256600 603604 610217 - OMIM
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Search: '256600 603604 610217 (Search in: MIM number)'
Results: 3 entries.

1:
* 603604. PHOSPHOLIPASE A2, GROUP VI; PLA2G6
Cytogenetic location: 22q13.1, Genomic coordinates (GRCh38): 22:38,111,495-38,181,830
Matching terms: 603604
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
22q13.1 Infantile neuroaxonal dystrophy 1 256600 AR 3
Neurodegeneration with brain iron accumulation 2B 610217 AR 3
Parkinson disease 14, autosomal recessive 612953 AR 3
ICD+
SNOMEDCT: 52713000

2:
# 610217. NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B
KARAK SYNDROME, INCLUDED
Cytogenetic location: 22q13.1
Matching terms: 610217
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
22q13.1 Neurodegeneration with brain iron accumulation 2B 610217 AR 3 PLA2G6 603604
ICD+
ORPHA: 35069
DO: 0110736

3:
# 256600. NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
Cytogenetic location: 22q13.1
Matching terms: 256600
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
22q13.1 Infantile neuroaxonal dystrophy 1 256600 AR 3 PLA2G6 603604
ICD+
SNOMEDCT: 52713000
ORPHA: 35069
DO: 0110735
Search: 256600 603604 610217 (Search in: MIM number)
Results: 3 entries.

1:
* 603604. PHOSPHOLIPASE A2, GROUP VI; PLA2G6
Cytogenetic location: 22q13.1, Genomic coordinates (GRCh38): 22:38,111,495-38,181,830
Matching terms: 603604

2:
# 610217. NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; NBIA2B
KARAK SYNDROME, INCLUDED
Cytogenetic location: 22q13.1
Matching terms: 610217

3:
# 256600. NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
Cytogenetic location: 22q13.1
Matching terms: 256600