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Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

ORPHA:293967 · Malformation syndrome · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(35)

  • Abnormal optic disc morphologyHP:0012795
  • Broad halluxHP:0010055
  • Congenital sensorineural hearing impairmentHP:0008527
  • Convex nasal ridgeHP:0000444
  • CryptorchidismHP:0000028
  • Decreased corneal thicknessHP:0100689
  • Decreased testicular sizeHP:0008734
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Early-onset non-progressive night blindnessHP:0007642
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • GynecomastiaHP:0000771
  • Highly arched eyebrowHP:0002553
  • HypertelorismHP:0000316
  • Hypogonadotropic hypogonadismHP:0000044
  • Marked delay in bone ageHP:0003799
  • MicrocephalyHP:0000252
  • Microcytic anemiaHP:0001935
  • MicrognathiaHP:0000347
  • MicropenisHP:0000054
  • Moderate global developmental delayHP:0011343
  • Moderate intrauterine growth retardationHP:0011408
  • Motor delayHP:0001270
  • MyopiaHP:0000545
  • OligohydramniosHP:0001562
  • Primary amenorrheaHP:0000786
  • Protruding earHP:0000411
  • SeizureHP:0001250
  • Severe postnatal growth retardationHP:0008850
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328
  • Sprengel anomalyHP:0000912
  • Underdeveloped superior crus of antihelixHP:0011246
  • Visual field defectHP:0001123

Frequent (79-30%)(9)

  • Bifid uvulaHP:0000193
  • Broad thumbHP:0011304
  • Cerebral dysmyelinationHP:0007266
  • Contracture of the proximal interphalangeal joint of the 5th fingerHP:0009185
  • Genu valgumHP:0002857
  • HypertoniaHP:0001276
  • Insulin-resistant diabetes mellitusHP:0000831
  • Overlapping toeHP:0001845
  • Pes cavusHP:0001761

Occasional (29-5%)(3)

  • HirsutismHP:0001007
  • Hypoplasia of the tooth germHP:0006353
  • Lower limb spasticityHP:0002061