|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||An X-linked disease resulting from a deficiency in N-terminal acetyltransferase, characterized by postnatal growth failure with severe delays and dysmorphic features in boys. (Human Disease Ontology, DOID_0050781)|
|Downloads & Tools|
1 genes associated with the N-terminal acetyltransferase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|NAA10||N(alpha)-acetyltransferase 10, NatA catalytic subunit|