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237 Possible Causes for Oral-Facial-Digital Syndrome Type 6

  • Familial Hypercholesterolemia

    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] 4 Orofacial Cleft 6, Susceptibility To 1 Orofaciodigital Syndrome IV 1 Orofaciodigital Syndrome V 1 Orotic Aciduria 1 Osler Hemorrhagic Telangiectasia Syndrome 2 Osteitis[preventiongenetics.com] Opsismodysplasia 1 Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures 1 Optic Atrophy 7 3 Optic Atrophy And Cataract, Autosomal Dominant 4 Optic Atrophy Type[preventiongenetics.com]

  • Mohr Syndrome

    II, Mohr syndrome [3] Type III, Sugarman syndrome Type IV, Baraitser-Burn syndrome [4] Type V, Thurston syndrome [5] Type VI, Varadi-Papp syndrome [6] Type VII, Whelan syndrome[en.wikipedia.org] ( 14966745 ) Velepic M.S....Komljenovic D. 2004 5 Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations. ( 12000897 ) Sakai N....Uchinuma[malacards.org] Oral-facial-digital syndrome. Arch Dis Child 1967;42:214-9. [ PUBMED ] 3. Mihci E, Tacoy S, Ozbilim G, Franco B. Oral-facial digital syndrome type 1.[ijdr.in]

  • Progressive Myoclonic Epilepsy Type 3

    syndrome type 18 TCTN3 Joubert syndrome type 20 TMEM231 Joubert syndrome type 21 CSPP1 Joubert syndrome type 22 PDE6D Joubert syndrome type 23 KIAA0586 Joubert syndrome type[centogene.com] 10 OFD1 Joubert syndrome type 13 TCTN1 Joubert syndrome type 14 TMEM237 Joubert syndrome type 15 CEP41 Joubert syndrome type 16 TMEM138 Joubert syndrome type 17 C5orf42 Joubert[centogene.com]

  • Progressive Myoclonic Epilepsy Type 8

    syndrome type 18 TCTN3 Joubert syndrome type 20 TMEM231 Joubert syndrome type 21 CSPP1 Joubert syndrome type 22 PDE6D Joubert syndrome type 23 KIAA0586 Joubert syndrome type[centogene.com] 10 OFD1 Joubert syndrome type 13 TCTN1 Joubert syndrome type 14 TMEM237 Joubert syndrome type 15 CEP41 Joubert syndrome type 16 TMEM138 Joubert syndrome type 17 C5orf42 Joubert[centogene.com]

  • Unverricht-Lundborg Syndrome

    syndrome type 18 TCTN3 Joubert syndrome type 20 TMEM231 Joubert syndrome type 21 CSPP1 Joubert syndrome type 22 PDE6D Joubert syndrome type 23 KIAA0586 Joubert syndrome type[centogene.com] 10 OFD1 Joubert syndrome type 13 TCTN1 Joubert syndrome type 14 TMEM237 Joubert syndrome type 15 CEP41 Joubert syndrome type 16 TMEM138 Joubert syndrome type 17 C5orf42 Joubert[centogene.com]

  • Dilated Cardiomyopathy Type 2B

    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] 4 Orofacial Cleft 6, Susceptibility To 1 Orofaciodigital Syndrome IV 1 Orofaciodigital Syndrome V 1 Orotic Aciduria 1 Osler Hemorrhagic Telangiectasia Syndrome 2 Osteitis[preventiongenetics.com] Opsismodysplasia 1 Optic Atrophy 10 with or without Ataxia, Mental Retardation, and Seizures 1 Optic Atrophy 7 3 Optic Atrophy And Cataract, Autosomal Dominant 4 Optic Atrophy Type[preventiongenetics.com]

  • Jankovic Rivera Syndrome

    Oral-facial-digital syndrome type 6 Polydactyly cleft lip/palate or Isochromosome 18p Isovaleryl CoA carboxylase lingual lump and psychomotor Tetrasomy Short Arm of Batten[yumpu.com] Instituto Venezolano de type 6 Oral-facial-digital syndrome tetrasomy 21q Chromosome 21 Ectropion inferior cleft lip and or Leber optic atrophy and Investigaciones Cientificas[yumpu.com] Rolland-Desbuquois type Anisospondylic Hypomelanosis of Ito type 2 Oral-facial-digital syndrome Tetrasomy 18p Battaglia Neri syndrome camptomicromelic dwarfism IVD deficiency[yumpu.com]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    syndrome type 18 TCTN3 Joubert syndrome type 20 TMEM231 Joubert syndrome type 21 CSPP1 Joubert syndrome type 22 PDE6D Joubert syndrome type 23 KIAA0586 Joubert syndrome type[centogene.com] 10 OFD1 Joubert syndrome type 13 TCTN1 Joubert syndrome type 14 TMEM237 Joubert syndrome type 15 CEP41 Joubert syndrome type 16 TMEM138 Joubert syndrome type 17 C5orf42 Joubert[centogene.com]

  • Hereditary Hyperekplexia

    Corneal dystrophy, fuchs endothelial, 4 Spherocytosis type 1 Corneal dystrophy, fuchs endothelial, 6 Spastic paraplegia 72, autosomal dominant Spherocytosis type 5 Oral-facial-digital[amp.pharm.mssm.edu] syndrome Ovarioleukodystrophy Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Cardiomyopathy, dilated, 1nn Pyridoxal 5'-phosphate-dependent[amp.pharm.mssm.edu]

  • Gorlin Psaume Syndrome

    II, Mohr syndrome [3] Type III, Sugarman syndrome Type IV, Baraitser-Burn syndrome [4] Type V, Thurston syndrome [5] Type VI, Varadi-Papp syndrome [6] Type VII, Whelan syndrome[en.wikipedia.org] Physical and dental manifestations of oral-facial-digital syndrome type I.[jisppd.com] Oral-facial-digital syndrome. Arch Dis Child 1967;42:214-9. [ PUBMED ] 3. Mihci E, Tacoy S, Ozbilim G, Franco B. Oral-facial digital syndrome type 1.[ijdr.in]

Further symptoms