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Summary Literature (0)
DOID:0060858 - hypotonia-cystinuria syndrome

Disease Ontology Definition:A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

Synonyms: cystinuria with mitochondrial disease

Xenbase Genes : prepl, slc3a1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011669 - hypotonia-cystinuria syndrome


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): chromosomal deletion syndrome (is_a), syndrome (is_a)