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Coffin-Lowry syndrome

ORPHA:192 · Malformation syndrome · Disorder

HPO 表現型（共 81 項）

Very frequent (99-80%)(31)

  • Abnormal dental morphologyHP:0006482
  • Abnormal diaphysis morphologyHP:0000940
  • Abnormal speech patternHP:0002167
  • Abnormal vertebral body morphologyHP:0003312
  • Anteverted naresHP:0000463
  • Broad fingerHP:0001500
  • Coarse facial featuresHP:0000280
  • Craniofacial hyperostosisHP:0004493
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Frontal bossingHP:0002007
  • HypertelorismHP:0000316
  • HypodontiaHP:0000668
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • KyphosisHP:0002808
  • Large handsHP:0001176
  • Open mouthHP:0000194
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • ScoliosisHP:0002650
  • Severe global developmental delayHP:0011344
  • Short statureHP:0004322
  • Tapered fingerHP:0001182
  • Thick lower lip vermilionHP:0000179
  • Thick nasal alaeHP:0009928
  • Widely spaced teethHP:0000687

Frequent (79-30%)(26)

  • Conical incisorHP:0011065
  • Feeding difficulties in infancyHP:0008872
  • Gait disturbanceHP:0001288
  • High palateHP:0000218
  • Hyperconvex fingernailsHP:0001812
  • HypertoniaHP:0001276
  • Hypoplasia of the maxillaHP:0000327
  • Hypoplastic fingernailHP:0001804
  • Metacarpal pseudoepiphysisHP:0009193
  • MicrocephalyHP:0000252
  • Narrow iliac wingHP:0002868
  • Narrow palateHP:0000189
  • Pes planusHP:0001763
  • Postnatal growth retardationHP:0008897
  • Premature loss of teethHP:0006480
  • Progressive spasticityHP:0002191
  • Prominent foreheadHP:0011220
  • Protruding earHP:0000411
  • Redundant skinHP:0001582
  • Short chordae tendineae of the mitral valveHP:0011580
  • Short chordae tendineae of the tricuspid valveHP:0006692
  • Short distal phalanx of fingerHP:0009882
  • Short metacarpalHP:0010049
  • VentriculomegalyHP:0002119
  • Wide mouthHP:0000154
  • Wide noseHP:0000445

Occasional (29-5%)(24)

  • Abnormal aortic valve morphologyHP:0001646
  • Abnormal mitral valve morphologyHP:0001633
  • Abnormal retinal pigmentationHP:0007703
  • Abnormal tricuspid valve morphologyHP:0001702
  • Abnormality of neuronal migrationHP:0002269
  • Advanced eruption of teethHP:0006288
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Atonic seizureHP:0010819
  • Atypical behaviorHP:0000708
  • CardiomyopathyHP:0001638
  • CataractHP:0000518
  • Cerebral cortical atrophyHP:0002120
  • Delayed eruption of teethHP:0000684
  • Exaggerated median tongue furrowHP:0002711
  • Inguinal herniaHP:0000023
  • Muscle weaknessHP:0001324
  • Optic atrophyHP:0000648
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Sensorineural hearing impairmentHP:0000407
  • Skeletal muscle atrophyHP:0003202
  • Sleep apneaHP:0010535
  • StrabismusHP:0000486