Hypotonia-cystinuria Syndrome

About the Disease
Hypotonia-Cystinuria Syndrome, also known as cystinuria with mitochondrial disease, is related to 2p21 microdeletion syndrome without cystinuria and hypotonia. An important gene associated with Hypotonia-Cystinuria Syndrome is DEL2P21 (Hypotonia-Cystinuria Syndrome), and among its related pathways/superpathways is Defective SLC3A1 causes cystinuria (CSNU). The drugs Sulfamethoxazole and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are failure to thrive and frontal bossing

Common Targets
SLC7A9 | CAMKMT | CHKB | PREPL

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