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Summary Literature (0)
MIM:606407 - HYPOTONIA-CYSTINURIA SYNDROME

Xenbase Genes: slc3a1, prepl

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011669 - hypotonia-cystinuria syndrome
MONDO:0015583 - 2p21 microdeletion syndrome
MONDO:0016539 - atypical hypotonia-cystinuria syndrome

Disease Ontology (DO):
DOID:0060858 - hypotonia-cystinuria syndrome