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PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

ORPHA:589905 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(3)

  • Intellectual disabilityHP:0001249
  • MacrotiaHP:0000400
  • Neurodevelopmental delayHP:0012758

Frequent (79-30%)(18)

  • Abnormality of refractionHP:0000539
  • Anteverted naresHP:0000463
  • Attention deficit hyperactivity disorderHP:0007018
  • Broad nasal tipHP:0000455
  • Cafe-au-lait spotHP:0000957
  • Clinodactyly of the 5th fingerHP:0004209
  • FatigueHP:0012378
  • Feeding difficulties in infancyHP:0008872
  • High foreheadHP:0000348
  • HypermetropiaHP:0000540
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • ImpulsivityHP:0100710
  • Increased body weightHP:0004324
  • Long philtrumHP:0000343
  • SynophrysHP:0000664
  • Tapered fingerHP:0001182
  • Thin vermilion borderHP:0000233

Occasional (29-5%)(17)

  • 2-3 toe syndactylyHP:0004691
  • Almond-shaped palpebral fissureHP:0007874
  • ConstipationHP:0002019
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • Gait disturbanceHP:0001288
  • Gastroesophageal refluxHP:0002020
  • Generalized joint hypermobilityHP:0002761
  • Hand tremorHP:0002378
  • Neonatal hypotoniaHP:0001319
  • PtosisHP:0000508
  • Recurrent otitis mediaHP:0000403
  • Recurrent upper respiratory tract infectionsHP:0002788
  • SeizureHP:0001250
  • Sleep disturbanceHP:0002360
  • StrabismusHP:0000486
  • Upslanted palpebral fissureHP:0000582