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X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome

ORPHA:435938 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Obligate (100%)(9)

  • Abnormal facial shapeHP:0001999
  • CryptorchidismHP:0000028
  • Gastroesophageal refluxHP:0002020
  • HypotoniaHP:0001252
  • Mandibular prognathiaHP:0000303
  • MicrocephalyHP:0000252
  • Recurrent infectionsHP:0002719
  • SeizureHP:0001250
  • Severe postnatal growth retardationHP:0008850

Frequent (79-30%)(16)

  • Ankle flexion contractureHP:0006466
  • Branchial cystHP:0009796
  • CamptodactylyHP:0012385
  • Dental crowdingHP:0000678
  • Finger syndactylyHP:0006101
  • HypospadiasHP:0000047
  • Knee flexion contractureHP:0006380
  • LaryngomalaciaHP:0001601
  • Protruding earHP:0000411
  • Pulmonary artery stenosisHP:0004415
  • Sacral lipomaHP:0012033
  • Self-injurious behaviorHP:0100716
  • Sensorineural hearing impairmentHP:0000407
  • Single transverse palmar creaseHP:0000954
  • Tapered fingerHP:0001182
  • Thin upper lip vermilionHP:0000219