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Summary
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME TRMA
ROGERS SYNDROME MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS
249270
OMIM = Online Medalian Inheritance of Men
49827
1q24.2
rare
autosomal recessive
mutation in the SLC19A2 gene
symptoms
anemia
blindness, visual loss, visual impairment
cardiac arrhythmia, dysrhythmia
cardiomyopathy
congenital heart defect
cryptorchism
developmental delay
diabetes mellitus
epilepsy
hearing defect, deafness
nystagmus
onset, childhood
optic atrophy
optic neuropathy
retinal or macular degeneration
short stature
thrombopenia, thrombocytopenia
laboratory finding
Hemoglobine decreasedblood
Literature
Gordon NGuanidinoacetate methyltransferase deficiency (GAMT)Brain Dev32279-812010