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Results 1 - 7 of 7 for Mohr syndrome
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  1. Oral-facial-digital syndrome 
    ... Oro-facio-digital syndrome Orodigitofacial dysostosis Orodigitofacial syndrome Orofaciodigital syndrome Genetic Testing Registry: Orofacial-digital syndrome III Genetic ...
    https://medlineplus.gov/.../condition/oral-facial-digital-syndrome - Genetics
  2. Deafness-dystonia-optic neuronopathy syndrome 
    ... dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early ... deficiency Deafness-dystonia-optic atrophy syndrome Jensen syndrome Mohr-Tranebjærg syndrome Opticoacoustic nerve atrophy with dementia Genetic Testing Registry: ...
    https://medlineplus.gov/...ness-dystonia-optic-neuronopathy-syndrome - Genetics
  3. TIMM8A gene 
    ... Fung VS. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord. 2012 Jul;27(8):1034-40. ...
    https://medlineplus.gov/genetics/gene/timm8a - Genetics
  4. OFD1 gene 
    ... OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  5. Shprintzen-Goldberg syndrome 
    ... Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destree A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC. Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 Nov;44( ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  6. SKI gene 
    ... Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destree A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC. Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 Nov;44( ...
    https://medlineplus.gov/genetics/gene/ski - Genetics
  7. Craniofacial microsomia 
    ... the first and second branchial arches, part 2: syndromes. AJNR Am J ... E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen- ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics