Disease definition Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders
[orpha.net]
type 6, 614196 DGKE Nephrotic syndrome, type 7, 615008 WNK1 Neuropathy,hereditary sensory and autonomic type II,201300 LCAT Norum disease, 245900 OFD1 Oral-facial-digital
[gsdseq.ir]
1 4 Optic Disc Anomalies with Retinal and/or Macular Dystrophy 1 Optic Nerve Hypoplasia, Bilateral 3 Oral-Facial-Digital Syndrome 2 Ornithine Carbamoyltransferase Deficiency
[preventiongenetics.com]