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X-linked intellectual disability, Cabezas type

ORPHA:85293 · Malformation syndrome · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(20)

  • Abnormal earlobe morphologyHP:0000363
  • Abnormal hair patternHP:0010720
  • Abnormal speech patternHP:0002167
  • Absent speechHP:0001344
  • Clinodactyly of the 5th fingerHP:0004209
  • Down-sloping shouldersHP:0200021
  • Downslanted palpebral fissuresHP:0000494
  • HyperactivityHP:0000752
  • Hypoplasia of penisHP:0008736
  • Inguinal herniaHP:0000023
  • Moderate intellectual disabilityHP:0002342
  • Open biteHP:0010807
  • Prominent noseHP:0000448
  • Severe intellectual disabilityHP:0010864
  • Short neckHP:0000470
  • Short palmHP:0004279
  • Short philtrumHP:0000322
  • Small handHP:0200055
  • SynophrysHP:0000664
  • Wide mouthHP:0000154

Frequent (79-30%)(15)

  • Aggressive behaviorHP:0000718
  • BlepharophimosisHP:0000581
  • Broad-based gaitHP:0002136
  • CachexiaHP:0004326
  • Decreased testicular sizeHP:0008734
  • High palateHP:0000218
  • MacrocephalyHP:0000256
  • ObesityHP:0001513
  • Pes cavusHP:0001761
  • Sandal gapHP:0001852
  • ScoliosisHP:0002650
  • Short footHP:0001773
  • Short statureHP:0004322
  • Thick lower lip vermilionHP:0000179
  • TremorHP:0001337

Occasional (29-5%)(14)

  • Acanthosis nigricansHP:0000956
  • Biparietal narrowingHP:0004422
  • Camptodactyly of fingerHP:0100490
  • Cubitus valgusHP:0002967
  • EEG abnormalityHP:0002353
  • EpicanthusHP:0000286
  • HyperhidrosisHP:0000975
  • HypogonadismHP:0000135
  • ImmunodeficiencyHP:0002721
  • Joint hypermobilityHP:0001382
  • KyphosisHP:0002808
  • MicrocephalyHP:0000252
  • SeizureHP:0001250
  • Toe syndactylyHP:0001770