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Schaaf-Yang syndrome

ORPHA:398069 · Disease · Disorder

HPO 表現型（共 81 項）

Very frequent (99-80%)(11)

  • Abnormal facial shapeHP:0001999
  • CryptorchidismHP:0000028
  • Feeding difficultiesHP:0011968
  • Flexion contractureHP:0001371
  • Floppy infantHP:0008947
  • InfertilityHP:0000789
  • Intellectual disabilityHP:0001249
  • Motor delayHP:0001270
  • Neonatal hypotoniaHP:0001319
  • Neurodevelopmental delayHP:0012758
  • Poor suckHP:0002033

Frequent (79-30%)(40)

  • Abdominal obesityHP:0012743
  • Abnormal temper tantrumsHP:0025160
  • Abnormality of the eyeHP:0000478
  • Absence of pubertal developmentHP:0008197
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Borderline intellectual disabilityHP:0006889
  • Brain imaging abnormalityHP:0410263
  • Chronic constipationHP:0012450
  • Clitoral hypoplasiaHP:0000060
  • Cognitive impairmentHP:0100543
  • Decreased fetal movementHP:0001558
  • Decreased testicular sizeHP:0008734
  • Delayed speech and language developmentHP:0000750
  • Diminished deep tendon reflexHP:0001315
  • External genital hypoplasiaHP:0003241
  • Failure to thriveHP:0001508
  • Gastroesophageal refluxHP:0002020
  • HypogonadismHP:0000135
  • Hypoplastic labia minoraHP:0000064
  • Hypothalamic luteinizing hormone-releasing hormone deficiencyHP:0012287
  • Increased body weightHP:0004324
  • KyphosisHP:0002808
  • Mild intellectual disabilityHP:0001256
  • Nasogastric tube feedingHP:0040288
  • PolyphagiaHP:0002591
  • Primary amenorrheaHP:0000786
  • ScoliosisHP:0002650
  • Short footHP:0001773
  • Short statureHP:0004322
  • Skin-pickingHP:0012166
  • Sleep apneaHP:0010535
  • Small handHP:0200055
  • Small pituitary glandHP:0012506
  • Small scrotumHP:0000046
  • Specific learning disabilityHP:0001328
  • StrabismusHP:0000486
  • Temperature instabilityHP:0005968
  • VentriculomegalyHP:0002119
  • Weak cryHP:0001612

Occasional (29-5%)(30)

  • Abnormal rapid eye movement sleepHP:0002494
  • Almond-shaped palpebral fissureHP:0007874
  • Atrial septal defectHP:0001631
  • Central hypothyroidismHP:0011787
  • Central sleep apneaHP:0010536
  • Chorioretinal hypopigmentationHP:0040030
  • Compulsive behaviorsHP:0000722
  • Confusional arousalHP:0025237
  • Downturned corners of mouthHP:0002714
  • EsotropiaHP:0000565
  • Hip dysplasiaHP:0001385
  • Hypopigmentation of hairHP:0005599
  • Hypopigmentation of the skinHP:0001010
  • Impaired temperature sensationHP:0010829
  • ImpulsivityHP:0100710
  • LethargyHP:0001254
  • MicropenisHP:0000054
  • MyopiaHP:0000545
  • Narrow nasal bridgeHP:0000446
  • Obstructive sleep apneaHP:0002870
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Precocious pubertyHP:0000826
  • Premature pubarcheHP:0012411
  • PsychosisHP:0000709
  • Recurrent respiratory infectionsHP:0002205
  • SeizureHP:0001250
  • Thin upper lip vermilionHP:0000219
  • Type II diabetes mellitusHP:0005978
  • XerostomiaHP:0000217