The condition is generally diagnosed after genetic testing confirms<unk>  as mutated, although the condition may be suspected based on the symptoms. Methods to detect the mutation include whole exome sequencing and panel testing, in which a selection of potential genes involved are sequenced. The mutation can be confirmed by Sanger sequencing.
CDK13-related disorder
Chromosome 5q deletion syndrome
Lightwood–Albright syndrome
Chromosome instability syndrome
McCune–Albright syndrome
GATA2 deficiency
WNT4 deficiency
Chromosomal deletion syndrome