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PMP22-RAI1 contiguous gene duplication syndrome
ORPHA:477817 · Malformation syndrome · Disorder
HPO 表現型（共 46 項）
Very frequent (99-80%)(6)
- Abnormal facial shapeHP:0001999
- Delayed ability to walkHP:0031936
- Delayed speech and language developmentHP:0000750
- Feeding difficulties in infancyHP:0008872
- Floppy infantHP:0008947
- Global developmental delayHP:0001263
Frequent (79-30%)(14)
- Abnormal foot morphologyHP:0001760
- Abnormal heart morphologyHP:0001627
- Abnormal renal morphologyHP:0012210
- Atypical behaviorHP:0000708
- Brain imaging abnormalityHP:0410263
- Chronic constipationHP:0012450
- Decreased/absent ankle reflexesHP:0200101
- Distal amyotrophyHP:0003693
- Distal muscle weaknessHP:0002460
- Distal sensory impairmentHP:0002936
- Failure to thrive in infancyHP:0001531
- Foot dorsiflexor weaknessHP:0009027
- Joint hypermobilityHP:0001382
- Sleep disturbanceHP:0002360
Occasional (29-5%)(26)
- 2-3 toe syndactylyHP:0004691
- Abnormal pinna morphologyHP:0000377
- Aortic aneurysmHP:0004942
- Atrial septal defectHP:0001631
- Bicuspid aortic valveHP:0001647
- Broad-based gaitHP:0002136
- Decreased nerve conduction velocityHP:0000762
- Decreased number of peripheral myelinated nerve fibersHP:0003380
- Double outlet right ventricleHP:0001719
- Downslanted palpebral fissuresHP:0000494
- Long philtrumHP:0000343
- Overriding aortaHP:0002623
- Patent foramen ovaleHP:0001655
- Persistent left superior vena cavaHP:0005301
- Pes planusHP:0001763
- Pes valgusHP:0008081
- Sandal gapHP:0001852
- Sensory neuropathyHP:0000763
- Smooth philtrumHP:0000319
- StrabismusHP:0000486
- SyringomyeliaHP:0003396
- Talipes equinovarusHP:0001762
- Thin upper lip vermilionHP:0000219
- Triangular faceHP:0000325
- Ventricular septal defectHP:0001629
- Wide noseHP:0000445