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X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency

ORPHA:423479 · Disease · Disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(1)

  • Profound intellectual disabilityHP:0002187

Frequent (79-30%)(27)

  • Aplasia/Hypoplasia of the optic nerveHP:0008058
  • Axial hypotoniaHP:0008936
  • Bilateral tonic-clonic seizureHP:0002069
  • Deeply set eyeHP:0000490
  • Delayed myelinationHP:0012448
  • Diabetes insipidusHP:0000873
  • DolichocephalyHP:0000268
  • Elevated amniotic fluid alpha-fetoprotein concentrationHP:0004639
  • ExotropiaHP:0000577
  • Gastrostomy tube feeding in infancyHP:0011471
  • Hyperactive deep tendon reflexesHP:0006801
  • HypertelorismHP:0000316
  • Hypoplasia of the corpus callosumHP:0002079
  • Intrauterine growth retardationHP:0001511
  • Limb hypertoniaHP:0002509
  • Low-set earsHP:0000369
  • Macular pseudocolobomaHP:0001116
  • Optic disc pallorHP:0000543
  • Profound global developmental delayHP:0012736
  • Retinal dystrophyHP:0000556
  • Sensorineural hearing impairmentHP:0000407
  • Severe failure to thriveHP:0001525
  • Short statureHP:0004322
  • Slow pupillary light responseHP:0030211
  • Spastic tetraparesisHP:0001285
  • Underdeveloped nasal alaeHP:0000430
  • Undetectable visual evoked potentialsHP:0007965

Occasional (29-5%)(6)

  • 1-minute APGAR score of 0HP:0030927
  • 5-minute APGAR score of 1HP:0030921
  • Babinski signHP:0003487
  • Central sleep apneaHP:0010536
  • ClonusHP:0002169
  • Prolonged neonatal jaundiceHP:0006579

Excluded (0%)(1)

  • HbH hemoglobinHP:0011903