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Term:hypotonia-cystinuria syndrome
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Accession:DOID:0060858 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Cystinuria with Mitochondrial Disease
 primary_id: MESH:C564710
 alt_id: OMIM:606407;   RDO:0013579
 xref: ORDO:163690
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hypotonia-cystinuria syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camkmt calmodulin-lysine N-methyltransferase JBrowse link 6 8,346,645 8,729,773 RGD:11554173
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B JBrowse link 6 8,219,385 8,280,127 RGD:11554173
G Prepl prolyl endopeptidase-like JBrowse link 6 8,316,861 8,346,293 RGD:11554173
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:11554173

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  disease 15639
    syndrome 5218
      hypotonia-cystinuria syndrome 4
Path 2
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  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            disease of mental health 5531
              developmental disorder of mental health 2718
                specific developmental disorder 1890
                  intellectual disability 1712
                    hypotonia-cystinuria syndrome 4
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