Disease: Deformity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302142
Disease: Deformity
Deformity 		0.030 GeneticVariation group BEFREE Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients. 22548404 2013
CUI: C0302142
Disease: Deformity
Deformity 		0.030 Biomarker group BEFREE OFD1 is characterized by malformation of the oral cavity, face, and digits. 19876934 2009
CUI: C0302142
Disease: Deformity
Deformity 		0.030 Biomarker group BEFREE We review the literature on CNS anomalies in OFD syndromes and stress the difficulties in genetic counseling and functional prognosis for children of OFD 1 female carriers prenatally diagnosed with a malformation of the brain. 9482645 1998