Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Saethre-Chotzen Syndrome; SCS 101400
twist family bHLH transcription factor 1; TWIST1 601622
  • Clinical Genetics
  • Highly Specialised Services
Sandhoff Disease 268800
hexosaminidase subunit beta; HEXB 606873
  • Clinical Genetics
  • Neurology, Adult
  • Neurology, Paediatric
  • Paediatrics
Schopf-Schulz-Passarge Syndrome; SSPS 224750
Wnt family member 10A; WNT10A 606268
  • Clinical Genetics
  • Dental Surgery, Paediatric
  • Dermatology, Paediatric
Schwannomatosis 1; SWNTS1 162091
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily B, member 1; SMARCB1 601607
  • Clinical Genetics
  • Neurology, Adult
  • Neurology, Paediatric
Sebastian Syndrome; SBS 605249
myosin heavy chain 9; MYH9 160775
  • Haematology, Adult
  • Haematology, Paediatric
  • Prescribed Specialised Services
Segawa Syndrome, Autosomal Recessive 605407
tyrosine hydroxylase; TH 191290
  • Neurology, Paediatric
Seizures, Benign Familial Infantile, 2; BFIS2 605751
proline-rich transmembrane protein 2; PRRT2 614386
  • Clinical Genetics
  • Neurology, Adult
  • Neurology, Paediatric
Seizures, Benign Familial Neonatal, 1; BFNS1 121200
potassium voltage-gated channel subfamily Q member 2; KCNQ2 602235
  • Clinical Genetics
  • Neurology, Paediatric
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance; SESAMES 612780
potassium voltage-gated channel subfamily J member 10; KCNJ10 602208
  • Clinical Genetics
  • Neurology, Paediatric
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation 602450
DNA cross-link repair 1C; DCLRE1C 605988
  • Clinical Genetics
  • Immunology, Paediatric
  • Highly Specialised Services

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