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Distal 22q11.2 microduplication syndrome

ORPHA:261337 · Malformation syndrome · Disorder

HPO 表現型（共 57 項）

Occasional (29-5%)(57)

Abnormal antihelix morphologyHP:0009738
Abnormal helix morphologyHP:0011039
Abnormality of movementHP:0100022
Anal atresiaHP:0002023
Attention deficit hyperactivity disorderHP:0007018
Biparietal narrowingHP:0004422
Branchial fistulaHP:0009795
Broad foreheadHP:0000337
Bulbous noseHP:0000414
Camptodactyly of fingerHP:0100490
Camptodactyly of toeHP:0001836
Coarse facial featuresHP:0000280
CryptorchidismHP:0000028
Deeply set eyeHP:0000490
Depressed nasal ridgeHP:0000457
Downslanted palpebral fissuresHP:0000494
DysarthriaHP:0001260
DysphoniaHP:0001618
EpicanthusHP:0000286
Frontal bossingHP:0002007
Global developmental delayHP:0001263
High palateHP:0000218
HydrocephalusHP:0000238
HypertelorismHP:0000316
Hypoplastic toenailsHP:0001800
HypotoniaHP:0001252
Intellectual disabilityHP:0001249
Language impairmentHP:0002463
Long philtrumHP:0000343
Low posterior hairlineHP:0002162
Low-set earsHP:0000369
MacrocephalyHP:0000256
MacroglossiaHP:0000158
Mandibular prognathiaHP:0000303
MicrocephalyHP:0000252
MicrognathiaHP:0000347
Optic disc colobomaHP:0000588
Palpebral edemaHP:0100540
Patent ductus arteriosusHP:0001643
Protruding earHP:0000411
Sacral dimpleHP:0000960
ScoliosisHP:0002650
SeizureHP:0001250
Short philtrumHP:0000322
Smooth philtrumHP:0000319
StrabismusHP:0000486
Tapered fingerHP:0001182
Thick vermilion borderHP:0012471
Toe syndactylyHP:0001770
Triangular faceHP:0000325
Tricuspid regurgitationHP:0005180
Tricuspid valve prolapseHP:0001704
Unilateral renal agenesisHP:0000122
Upslanted palpebral fissureHP:0000582
Ventricular septal defectHP:0001629
Webbed neckHP:0000465
Wide noseHP:0000445