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Beta-mercaptolactate cysteine disulfiduria

ORPHA:1035 · Biological anomaly · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(4)

  • High foreheadHP:0000348
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250
  • Short statureHP:0004322

Frequent (79-30%)(16)

  • Anteverted naresHP:0000463
  • ArachnodactylyHP:0001166
  • Convex nasal ridgeHP:0000444
  • Downslanted palpebral fissuresHP:0000494
  • Dry skinHP:0000958
  • EEG abnormalityHP:0002353
  • Frontal bossingHP:0002007
  • Genu valgumHP:0002857
  • High palateHP:0000218
  • Hypoplasia of the ear cartilageHP:0100720
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • MicromeliaHP:0002983
  • Posteriorly rotated earsHP:0000358
  • Sandal gapHP:0001852
  • StrabismusHP:0000486

Occasional (29-5%)(4)

  • Abnormality of the ureterHP:0000069
  • Atrial septal defectHP:0001631
  • ObesityHP:0001513
  • Umbilical herniaHP:0001537