Entry Search - 255110 600649 600650 608836 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '255110 600649 600650 608836 (Search in: MIM number)'
Results: 4 entries.

1:
* 600650. CARNITINE PALMITOYLTRANSFERASE II; CPT2
Cytogenetic location: 1p32.3, Genomic coordinates (GRCh38): 1:53,196,824-53,214,197
Matching terms: 600650
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
1p32.3 {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212 AD, AR 3
CPT II deficiency, infantile 600649 AR 3
CPT II deficiency, lethal neonatal 608836 AR 3
CPT II deficiency, myopathic, stress-induced 255110 AD, AR 3

2:
# 255110. CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
Cytogenetic location: 1p32.3
Matching terms: 255110
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
1p32.3 CPT II deficiency, myopathic, stress-induced 255110 AD, AR 3 CPT2 600650
ICD+
ORPHA: 157, 228302
DO: 0060235

3:
# 600649. CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Cytogenetic location: 1p32.3
Matching terms: 600649
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
1p32.3 CPT II deficiency, infantile 600649 AR 3 CPT2 600650
ICD+
ORPHA: 157, 228305
DO: 0060235

4:
# 608836. CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Cytogenetic location: 1p32.3
Matching terms: 608836
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
1p32.3 CPT II deficiency, lethal neonatal 608836 AR 3 CPT2 600650
ICD+
ORPHA: 157, 228308
DO: 0060235
Search: 255110 600649 600650 608836 (Search in: MIM number)
Results: 4 entries.

1:
* 600650. CARNITINE PALMITOYLTRANSFERASE II; CPT2
Cytogenetic location: 1p32.3, Genomic coordinates (GRCh38): 1:53,196,824-53,214,197
Matching terms: 600650

2:
# 255110. CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
Cytogenetic location: 1p32.3
Matching terms: 255110

3:
# 600649. CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE
Cytogenetic location: 1p32.3
Matching terms: 600649

4:
# 608836. CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
Cytogenetic location: 1p32.3
Matching terms: 608836