Disease: Somatotropin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.010 GeneticVariation disease BEFREE Here, we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency. 28052552 2017