Distal deletion 12q syndrome

ORPHA:96149 · Malformation syndrome · Disorder

HPO 表現型（共 76 項）

Occasional (29-5%)(76)

2-3 toe syndactylyHP:0004691
Abnormal facial shapeHP:0001999
Annular pancreasHP:0001734
Anteverted naresHP:0000463
Aplasia/Hypoplasia of the middle phalanx of the 3rd fingerHP:0009437
Bilateral conductive hearing impairmentHP:0008513
Biliary atresiaHP:0005912
BrachycephalyHP:0000248
Broad halluxHP:0010055
BronchodysplasiaHP:0006533
Bulbous noseHP:0000414
Clinodactyly of the 5th fingerHP:0004209
Coarse facial featuresHP:0000280
Congenital hypertrophy of left ventricleHP:0005129
Delayed gross motor developmentHP:0002194
Delayed speech and language developmentHP:0000750
Diabetes mellitusHP:0000819
Downslanted palpebral fissuresHP:0000494
Duodenal atresiaHP:0002247
Ectopic kidneyHP:0000086
Elbow flexion contractureHP:0002987
Esophageal atresiaHP:0002032
Failure to thrive in infancyHP:0001531
Fine hairHP:0002213
Flat faceHP:0012368
Frontal bossingHP:0002007
Generalized hypotoniaHP:0001290
Generalized tonic seizureHP:0010818
Global developmental delayHP:0001263
Growth delayHP:0001510
High hypermetropiaHP:0008499
High, narrow palateHP:0002705
HydronephrosisHP:0000126
HyperactivityHP:0000752
Hypernasal speechHP:0001611
Impaired pain sensationHP:0007328
Intellectual disabilityHP:0001249
KyphoscoliosisHP:0002751
Large foreheadHP:0002003
Large handsHP:0001176
Late onset atopic dermatitisHP:0007573
Long footHP:0001833
Long philtrumHP:0000343
Low-set earsHP:0000369
MacrocephalyHP:0000256
Maturity-onset diabetes of the youngHP:0004904
Median cleft upper lipHP:0000161
MicrocephalyHP:0000252
MicroglossiaHP:0000171
MicrognathiaHP:0000347
MicropenisHP:0000054
MicrotiaHP:0008551
ObesityHP:0001513
Obsessive-compulsive traitHP:0008770
Overlapping toeHP:0001845
Patent ductus arteriosusHP:0001643
Patent foramen ovaleHP:0001655
Pes valgusHP:0008081
Pituitary adenomaHP:0002893
Polycystic kidney dysplasiaHP:0000113
Prominent ear helixHP:0009904
Proportionate tall statureHP:0011407
Pyloric stenosisHP:0002021
Self-mutilationHP:0000742
Short middle phalanx of fingerHP:0005819
Short neckHP:0000470
Short statureHP:0004322
Single transverse palmar creaseHP:0000954
Small nailHP:0001792
Smooth philtrumHP:0000319
Supernumerary toothHP:0011069
TelecanthusHP:0000506
Underdeveloped supraorbital ridgesHP:0009891
Unilateral cryptorchidismHP:0012741
Vesicoureteral refluxHP:0000076
Wide anterior fontanelHP:0000260