Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Kennedy disease (12.40)
313200
AR (Xq11.2-q12)
Androgen receptor



Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.12)
616549
MYO18B (22q12.1)
Myosin XVIIIB



Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)
253400
SMN1 (5q13)
Survival of motor neuron 1, telomeric



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