Disease: Frontometaphyseal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.010 GeneticVariation disease BEFREE Phenotypic series of frontometaphyseal dysplasia also comprise variants in FLNA (type 1) and two patients with a heterozygous variant in TAB2 (type 3). 29467388 2018