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X-linked intellectual disability-craniofacioskeletal syndrome

ORPHA:163979 · Disease · Disorder

HPO 表現型（共 48 項）

Frequent (79-30%)(13)

  • Bilateral ptosisHP:0001488
  • MicrocephalyHP:0000252
  • Mild intellectual disabilityHP:0001256
  • Overhanging nasal tipHP:0011833
  • Pes planusHP:0001763
  • Posteriorly rotated earsHP:0000358
  • Short 5th fingerHP:0009237
  • Short chinHP:0000331
  • Short philtrumHP:0000322
  • Short statureHP:0004322
  • Thin upper lip vermilionHP:0000219
  • Toe clinodactylyHP:0001863
  • Underdeveloped nasal alaeHP:0000430

Occasional (29-5%)(35)

  • 2-3 toe syndactylyHP:0004691
  • Absent gallbladderHP:0011467
  • AnemiaHP:0001903
  • Aplasia/Hypoplasia of the nailsHP:0008386
  • Atrial septal defectHP:0001631
  • Broad foreheadHP:0000337
  • Broad skullHP:0002682
  • Bulbous tips of toesHP:0001782
  • Capillary hemangiomaHP:0005306
  • Cerebellar hypoplasiaHP:0001321
  • Choanal atresiaHP:0000453
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • Downslanted palpebral fissuresHP:0000494
  • Heart murmurHP:0030148
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • HyperbilirubinemiaHP:0002904
  • Hyperextensibility of the finger jointsHP:0001187
  • HypocalcemiaHP:0002901
  • HypospadiasHP:0000047
  • Interrupted aortic archHP:0011611
  • Intracranial hemorrhageHP:0002170
  • Long toeHP:0010511
  • MicropenisHP:0000054
  • MicrotiaHP:0008551
  • Patent ductus arteriosusHP:0001643
  • ProptosisHP:0000520
  • Respiratory insufficiencyHP:0002093
  • Rocker bottom footHP:0001838
  • ThrombocytopeniaHP:0001873
  • Tracheal stenosisHP:0002777
  • Upslanted palpebral fissureHP:0000582
  • Ventricular septal defectHP:0001629
  • Wide intermamillary distanceHP:0006610