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SATB2-associated syndrome due to a chromosomal rearrangement

ORPHA:251028 · Etiological subtype · Subtype of disorder

HPO 表現型（共 82 項）

Very frequent (99-80%)(2)

  • Absent speechHP:0001344
  • Global developmental delayHP:0001263

Frequent (79-30%)(21)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the dentitionHP:0000164
  • Aggressive behaviorHP:0000718
  • Atypical behaviorHP:0000708
  • Bilateral talipes equinovarusHP:0001776
  • Cleft palateHP:0000175
  • Decreased testicular sizeHP:0008734
  • DroolingHP:0002307
  • Feeding difficulties in infancyHP:0008872
  • High foreheadHP:0000348
  • High palateHP:0000218
  • HypermetropiaHP:0000540
  • HypotoniaHP:0001252
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Nasogastric tube feeding in infancyHP:0011470
  • Prominent foreheadHP:0011220
  • Prominent nasal bridgeHP:0000426
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Sparse hairHP:0008070

Occasional (29-5%)(59)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormality of the eyeHP:0000478
  • Abnormality of the kneeHP:0002815
  • Abnormality of the outer earHP:0000356
  • Abnormality of upper lip vermillionHP:0011339
  • Agenesis of permanent teethHP:0006349
  • Broad halluxHP:0010055
  • Broad thumbHP:0011304
  • Broad-based gaitHP:0002136
  • Clinodactyly of the 5th fingerHP:0004209
  • ColobomaHP:0000589
  • Convex nasal ridgeHP:0000444
  • CryptorchidismHP:0000028
  • DacryocystitisHP:0000620
  • Deeply set eyeHP:0000490
  • Dental crowdingHP:0000678
  • Dental malocclusionHP:0000689
  • Downslanted palpebral fissuresHP:0000494
  • Emotional labilityHP:0000712
  • EsodeviationHP:0020045
  • External genital hypoplasiaHP:0003241
  • Facial asymmetryHP:0000324
  • Fine hairHP:0002213
  • Flat occiputHP:0005469
  • Frontal bossingHP:0002007
  • Generalized joint hypermobilityHP:0002761
  • HypertoniaHP:0001276
  • Increased susceptibility to fracturesHP:0002659
  • Long faceHP:0000276
  • Long philtrumHP:0000343
  • Low-set earsHP:0000369
  • Lower limb spasticityHP:0002061
  • Lumbar hyperlordosisHP:0002938
  • MacrocephalyHP:0000256
  • MicrodontiaHP:0000691
  • MicropenisHP:0000054
  • Morphological central nervous system abnormalityHP:0002011
  • Narrow faceHP:0000275
  • Narrow mouthHP:0000160
  • Obstructive sleep apneaHP:0002870
  • OsteopeniaHP:0000938
  • Pierre-Robin sequenceHP:0000201
  • PolyphagiaHP:0002591
  • Postnatal growth retardationHP:0008897
  • Prominent calcaneusHP:0012428
  • Relative macrocephalyHP:0004482
  • RestlessnessHP:0000711
  • SeizureHP:0001250
  • Self-mutilationHP:0000742
  • Short footHP:0001773
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Short philtrumHP:0000322
  • Slender fingerHP:0001238
  • Small handHP:0200055
  • Talipes equinovarusHP:0001762
  • Tibial bowingHP:0002982
  • Ventricular septal defectHP:0001629
  • Wide noseHP:0000445