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2q31.1 microdeletion syndrome

ORPHA:251014 · Malformation syndrome · Disorder

HPO 表現型（共 63 項）

Very frequent (99-80%)(2)

Global developmental delayHP:0001263
Intellectual disabilityHP:0001249

Frequent (79-30%)(27)

Abnormal hair morphologyHP:0001595
Abnormal metacarpal morphologyHP:0005916
BrachydactylyHP:0001156
Broad hallux phalanxHP:0010059
Bulbous noseHP:0000414
Camptodactyly of fingerHP:0100490
Clinodactyly of the 5th fingerHP:0004209
Deep philtrumHP:0002002
Delayed skeletal maturationHP:0002750
Downslanted palpebral fissuresHP:0000494
Downturned corners of mouthHP:0002714
Hypoplastic toenailsHP:0001800
HypotoniaHP:0001252
Language impairmentHP:0002463
Long philtrumHP:0000343
Low-set earsHP:0000369
MicrocephalyHP:0000252
MicrognathiaHP:0000347
Prominent metopic ridgeHP:0005487
Sandal gapHP:0001852
SeizureHP:0001250
Short neckHP:0000470
Short palpebral fissureHP:0012745
Short statureHP:0004322
Tapered fingerHP:0001182
Toe syndactylyHP:0001770
Vertebral segmentation defectHP:0003422

Occasional (29-5%)(34)

Abnormal fibula morphologyHP:0002991
Abnormal morphology of ulnaHP:0040071
Abnormal tibia morphologyHP:0002992
Abnormality of the hypothalamus-pituitary axisHP:0000864
Atrial septal defectHP:0001631
Cerebral cortical atrophyHP:0002120
Cleft palateHP:0000175
Coarse facial featuresHP:0000280
ColobomaHP:0000589
CryptorchidismHP:0000028
EctrodactylyHP:0100257
EpicanthusHP:0000286
Everted lower lip vermilionHP:0000232
Facial asymmetryHP:0000324
Finger syndactylyHP:0006101
HypertelorismHP:0000316
Inguinal herniaHP:0000023
Iris colobomaHP:0000612
KyphosisHP:0002808
Low anterior hairlineHP:0000294
MicrophthalmiaHP:0000568
Narrow faceHP:0000275
Optic disc colobomaHP:0000588
ProptosisHP:0000520
PtosisHP:0000508
ScoliosisHP:0002650
Short footHP:0001773
Short palmHP:0004279
StrabismusHP:0000486
SynophrysHP:0000664
Thin vermilion borderHP:0000233
TrigonocephalyHP:0000243
Ventricular septal defectHP:0001629
VentriculomegalyHP:0002119