[Cystinuria-lysinuria with dwarfism, facial dysmorphy, muscle hypoplasia and psychomotor retardation].
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003241:Consanguinity; D003555:Cystinuria / Q000150:complications*; D004392:Dwarfism / Q000150:complications*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008239:Lysine / Q000652:urine*; D009135:Muscular Diseases / Q000150:complications*; D010375:Pedigree; D011596:Psychomotor Disorders / Q000150:complications*
D008239:Lysine
Cystinurie-lysinurie avec nanisme, dysmorphie faciale, hypoplasie musculaire et retard psycho-moteur.