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KDM5C-related syndromic X-linked intellectual disability

ORPHA:85279 · Malformation syndrome · Disorder

HPO 表現型（共 25 項）

Very frequent (99-80%)(5)

  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Hypoplasia of the maxillaHP:0000327
  • Patchy alopeciaHP:0002232
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(5)

  • Aggressive behaviorHP:0000718
  • HyperreflexiaHP:0001347
  • SeizureHP:0001250
  • Short statureHP:0004322
  • SpasticityHP:0001257

Occasional (29-5%)(15)

  • AutismHP:0000717
  • Camptodactyly of fingerHP:0100490
  • ClinodactylyHP:0030084
  • Decreased testicular sizeHP:0008734
  • Deeply set eyeHP:0000490
  • High palateHP:0000218
  • MacrocephalyHP:0000256
  • MicrocephalyHP:0000252
  • Multiple cafe-au-lait spotsHP:0007565
  • Prominent nasal bridgeHP:0000426
  • Protruding earHP:0000411
  • Short palmHP:0004279
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Tapered fingerHP:0001182