Entry Search - 300394 302060 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '300394 302060 (Search in: MIM number)'
Results: 2 entries.

2:
# 302060. BARTH SYNDROME; BTHS
Cytogenetic location: Xq28
Matching terms: 302060
 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
Xq28 Barth syndrome 302060 XLR 3 TAFAZZIN 300394
ICD+
SNOMEDCT: 297231002
ICD10CM: E78.71
ORPHA: 111
DO: 0050476
Search: 300394 302060 (Search in: MIM number)
Results: 2 entries.

1:
* 300394. TAFAZZIN, PHOSPHOLIPID-LYSOPHOSPHOLIPID TRANSACYLASE; TAFAZZIN
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,411,539-154,421,726
Matching terms: 300394

2:
# 302060. BARTH SYNDROME; BTHS
Cytogenetic location: Xq28
Matching terms: 302060