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Up to: Inborn disorder of amino acid metabolism

Inborn disorder of amino acid transport

1 trial tagged with this condition →

  • Cystinuria 7 trials Sub-types →
  • Undetermined early-onset epileptic encephalopathy 1 trial · 6 incl. sub-types Sub-types →
  • Oculocerebrorenal syndrome 3 trials
  • Hartnup disease 0 trials
  • Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome 0 trials Sub-types →
  • Blue diaper syndrome 0 trials
  • Dicarboxylic aminoaciduria 0 trials
  • Disorder of neutral amino acid transport 0 trials
  • Episodic ataxia type 6 0 trials
  • Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 trials
  • Histidinuria due to a renal tubular defect 0 trials
  • Hyperdibasic aminoaciduria type 1 0 trials
  • Hypotonia-cystinuria syndrome 0 trials Sub-types →
  • Iminoglycinuria 0 trials
  • Juvenile nephropathic cystinosis 0 trials
  • Lysinuric protein intolerance 0 trials
  • Nephropathic infantile cystinosis 0 trials
  • Ocular cystinosis 0 trials
  • Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 0 trials

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