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Wiedemann-Steiner syndrome
ORPHA:319182 · Malformation syndrome · Disorder
HPO 表現型（共 58 項）
Very frequent (99-80%)(1)
- Delayed speech and language developmentHP:0000750
Frequent (79-30%)(27)
- Abnormality of the elbowHP:0009811
- Accelerated skeletal maturationHP:0005616
- Aggressive behaviorHP:0000718
- AnxietyHP:0000739
- Atypical behaviorHP:0000708
- Congenital, generalized hypertrichosisHP:0004540
- Decreased response to growth hormone stimulation testHP:0000824
- Delayed gross motor developmentHP:0002194
- Delayed skeletal maturationHP:0002750
- DysphagiaHP:0002015
- Facial asymmetryHP:0000324
- Feeding difficultiesHP:0011968
- HyperactivityHP:0000752
- HypertelorismHP:0000316
- HypotoniaHP:0001252
- Long eyelashesHP:0000527
- Long philtrumHP:0000343
- Low frustration toleranceHP:0000744
- Motor stereotypyHP:0000733
- Postnatal growth retardationHP:0008897
- Round faceHP:0000311
- Short attention spanHP:0000736
- Short palpebral fissureHP:0012745
- Tapered fingerHP:0001182
- Thick eyebrowHP:0000574
- Thin upper lip vermilionHP:0000219
- Wide nasal bridgeHP:0000431
Occasional (29-5%)(30)
- Abnormal corpus callosum morphologyHP:0001273
- Abnormality of the handHP:0001155
- Aplasia/Hypoplasia of the ribsHP:0006712
- ClinodactylyHP:0030084
- Clinodactyly of the 5th fingerHP:0004209
- Dilatation of renal calicesHP:0100581
- DolichocephalyHP:0000268
- EpicanthusHP:0000286
- Failure to thriveHP:0001508
- Flat faceHP:0012368
- Gastroesophageal refluxHP:0002020
- Generalized hirsutismHP:0002230
- High foreheadHP:0000348
- High palateHP:0000218
- Hyperextensibility at elbowHP:0010485
- Intellectual disabilityHP:0001249
- Intrauterine growth retardationHP:0001511
- Low-set earsHP:0000369
- MicrocephalyHP:0000252
- Pectus excavatumHP:0000767
- Psychomotor deteriorationHP:0002361
- PtosisHP:0000508
- RhizomeliaHP:0008905
- Sacral dimpleHP:0000960
- SeizureHP:0001250
- Short noseHP:0003196
- Short statureHP:0004322
- SynophrysHP:0000664
- TelecanthusHP:0000506
- Webbed neckHP:0000465