Inborn disorder of amino acid transport

Part of

Sub-types of Inborn disorder of amino acid transport

• Cystinuria 7 trials
  2 sub-types

  • Cystinuria type A 0 trials
  • Cystinuria type B 0 trials
• Undetermined early-onset epileptic encephalopathy 1 trial · 6 incl. sub-types
  16 sub-types

  • Developmental and epileptic encephalopathy, 13 3 trials
  • Developmental and epileptic encephalopathy, 25 1 trial
  • Developmental and epileptic encephalopathy, 42 1 trial
  • Developmental and epileptic encephalopathy, 21 0 trials
  • Developmental and epileptic encephalopathy, 24 0 trials
  • Developmental and epileptic encephalopathy, 26 0 trials
  • Developmental and epileptic encephalopathy, 28 0 trials
  • Developmental and epileptic encephalopathy, 29 0 trials
  • Developmental and epileptic encephalopathy, 31A 0 trials
  • Developmental and epileptic encephalopathy, 32 0 trials
  • Developmental and epileptic encephalopathy, 33 0 trials
  • Developmental and epileptic encephalopathy, 41 0 trials
  • Developmental and epileptic encephalopathy, 44 0 trials
  • Developmental and epileptic encephalopathy, 45 0 trials
  • Developmental and epileptic encephalopathy, 46 0 trials
  • Developmental and epileptic encephalopathy, 47 0 trials
• Oculocerebrorenal syndrome 3 trials
• Hartnup disease 0 trials
• Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome 0 trials
  2 sub-types

  • Autosomal recessive spinocerebellar ataxia 13 0 trials
  • Autosomal recessive spinocerebellar ataxia 18 0 trials
• 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
  1 sub-type

  • Atypical hypotonia-cystinuria syndrome 0 trials
• 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