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Summary
CYSTINE-LYSINURIA
DIAMINOPENTANURIA
222350
OMIM = Online Medalian Inheritance of Men
new disease ?
symptoms
ataxia
hypertonia, spasticity
intellectual disability/intellectual developmental disorder (ID/ IDD)
seizures
laboratory finding
2-Ethyl-3-keto-hexanoic acid mmol/mol Creaurine
EEG abnormalities -
Literature
Garfield NKaraplis ACGenetics and animal models of hypoparathyroidismTrends Endocrinol Metab127288-2942001
Hendy GN,Cole DEC, Bastepe MHypoparathyroidism and PseudohypoparathyroidismEndotext Internet002017
Pillar N,et al.A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidismHum Genet1367835-8452017