Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Lateral Meningocele Syndrome; LMNS 130720
notch 3; NOTCH3 600276
  • Clinical Genetics
  • Prescribed Specialised Services
Leber Optic Atrophy 535000
mitochondrially encoded ATP synthase 6; MT-ATP6 516060
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1; MT-ND1 516000
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4; MT-ND4 516003
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6; MT-ND6 516006
  • Clinical Genetics
  • Neurology, Adult
  • Neurology, Paediatric
  • Ophthalmology, Adult
  • Ophthalmology, Paediatric
Leber Optic Atrophy And Dystonia 500001
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6; MT-ND6 516006
  • Neurology, Adult
  • Neurology, Paediatric
Left Ventricular Noncompaction 10; LVNC10 615396
myosin binding protein C, cardiac; MYBPC3 600958
  • Cardiology, Adult
  • Cardiology, Paediatric
  • Clinical Genetics
  • Prescribed Specialised Services
Legius Syndrome 611431
sprouty-related, EVH1 domain containing 1; SPRED1 609291
  • Clinical Genetics
Leigh Syndrome; LS 256000
mitochondrially encoded ATP synthase 6; MT-ATP6 516060
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6; MT-ND6 516006
  • Neurology, Paediatric
Leopard Syndrome 1; LPRD1 151100
protein tyrosine phosphatase, non-receptor type 11; PTPN11 176876
  • Cardiology, Paediatric
  • Clinical Genetics
Leopard Syndrome 2; LPRD2 611554
Raf-1 proto-oncogene, serine/threonine kinase; RAF1 164760
  • Cardiology, Paediatric
  • Clinical Genetics
Leri-Weill Dyschondrosteosis; LWD 127300
short stature homeobox; SHOX 312865
  • Clinical Genetics
Lesch-Nyhan Syndrome; LNS 300322
hypoxanthine phosphoribosyltransferase 1; HPRT1 308000
  • Neurology, Paediatric

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