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Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

ORPHA:457485 · Malformation syndrome · Disorder

HPO 表現型（共 45 項）

Very frequent (99-80%)(3)

  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • MegalencephalyHP:0001355

Frequent (79-30%)(11)

  • Abnormal facial shapeHP:0001999
  • Abnormal speech patternHP:0002167
  • Curly hairHP:0002212
  • Focal-onset seizureHP:0007359
  • Frontal bossingHP:0002007
  • Generalized-onset seizureHP:0002197
  • Global developmental delayHP:0001263
  • Large for gestational ageHP:0001520
  • SeizureHP:0001250
  • Specific learning disabilityHP:0001328
  • VentriculomegalyHP:0002119

Occasional (29-5%)(23)

  • Abnormal corpus callosum morphologyHP:0001273
  • AsthmaHP:0002099
  • Autistic behaviorHP:0000729
  • Cafe-au-lait spotHP:0000957
  • Capillary malformationHP:0025104
  • CryptorchidismHP:0000028
  • Diastasis rectiHP:0001540
  • Gait disturbanceHP:0001288
  • HemangiomaHP:0001028
  • HyperactivityHP:0000752
  • HypertelorismHP:0000316
  • Hypopigmented skin patchesHP:0001053
  • HypotoniaHP:0001252
  • Lactose intoleranceHP:0004789
  • Long philtrumHP:0000343
  • Open mouthHP:0000194
  • Pes planusHP:0001763
  • PolymicrogyriaHP:0002126
  • Prominent foreheadHP:0011220
  • Protuberant abdomenHP:0001538
  • StrabismusHP:0000486
  • Thoracic hypoplasiaHP:0005257
  • Wide mouthHP:0000154

Very rare (<4-1%)(8)

  • AllergyHP:0012393
  • Decreased circulating IgA concentrationHP:0002720
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • HypospadiasHP:0000047
  • Intestinal polypHP:0005266
  • Neonatal hypoglycemiaHP:0001998
  • Short chinHP:0000331