FGF3, fibroblast growth factor 3, 2248

N. diseases: 200; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
0.110 GeneticVariation disease BEFREE Auditory investigations, computer tomography, and genetic sequencing of the fibroblast growth factor 3 (FGF3) gene were performed on a Somali family presenting with autosomal recessive, hearing impairment, microdontia, and outer ear morphologies ranging from normal auricle development to microtia assessed as type 1 Weerda dysplasia in affected individuals. 19950373 2010
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
0.110 Biomarker disease HPO