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Atypical Werner syndrome
ORPHA:79474 · Disease · Disorder
HPO 表現型（共 90 項）
Very frequent (99-80%)(72)
- Abnormal Achilles tendon morphologyHP:0005109
- Abnormal cerebral vascular morphologyHP:0100659
- Abnormal circulating leptin concentrationHP:0004361
- Abnormal hair morphologyHP:0001595
- Abnormal hair quantityHP:0011362
- Abnormal hair whorlHP:0010721
- Abnormal retinal pigmentationHP:0007703
- Abnormal testis morphologyHP:0000035
- Abnormal thorax morphologyHP:0000765
- Abnormality of the pulmonary arteryHP:0004414
- Abnormality of the voiceHP:0001608
- AlopeciaHP:0001596
- Aortic valve calcificationHP:0004380
- Aplasia/Hypoplasia of the eyebrowHP:0100840
- Aplasia/Hypoplasia of the skinHP:0008065
- Calf muscle hypertrophyHP:0008981
- ChondrocalcinosisHP:0000934
- Congestive heart failureHP:0001635
- Convex nasal ridgeHP:0000444
- Coronary artery atherosclerosisHP:0001677
- Decreased body weightHP:0004325
- Decreased fertilityHP:0000144
- Delayed pubertyHP:0000823
- Diabetes mellitusHP:0000819
- Failure to thriveHP:0001508
- Fasting hyperinsulinemiaHP:0008283
- Fragile nailsHP:0001808
- Generalized lipodystrophyHP:0009064
- GlycosuriaHP:0003076
- Hepatic steatosisHP:0001397
- HyperglycemiaHP:0003074
- HyperinsulinemiaHP:0000842
- HyperkeratosisHP:0000962
- HypertensionHP:0000822
- HypertriglyceridemiaHP:0002155
- HypogonadismHP:0000135
- Insulin-resistant diabetes mellitusHP:0000831
- Lack of skin elasticityHP:0100679
- LaryngomalaciaHP:0001601
- Limitation of joint mobilityHP:0001376
- LipoatrophyHP:0100578
- MicrognathiaHP:0000347
- Narrow faceHP:0000275
- Osteolytic defects of the phalanges of the handHP:0009771
- OsteoporosisHP:0000939
- OsteosarcomaHP:0002669
- Patchy hypo- and hyperpigmentationHP:0007509
- Peripheral arterial stenosisHP:0004950
- Pes planusHP:0001763
- Pili tortiHP:0003777
- Premature arteriosclerosisHP:0005177
- Premature graying of hairHP:0002216
- Premature ovarian insufficiencyHP:0008209
- Prematurely aged appearanceHP:0007495
- Progeroid facial appearanceHP:0005328
- Progressive clavicular acroosteolysisHP:0000905
- Prominent superficial veinsHP:0001015
- Reduced bone mineral densityHP:0004349
- Rocker bottom footHP:0001838
- Sclerosis of hand boneHP:0004054
- Secondary amenorrheaHP:0000869
- Short palmHP:0004279
- Short statureHP:0004322
- Skeletal muscle atrophyHP:0003202
- Skin ulcerHP:0200042
- Sparse body hairHP:0002231
- Subcutaneous calcificationHP:0007618
- Telangiectasia of the skinHP:0100585
- Thin skinHP:0000963
- Thin vermilion borderHP:0000233
- Type II diabetes mellitusHP:0005978
- White forelockHP:0002211
Frequent (79-30%)(12)
- Aortic valve stenosisHP:0001650
- Intervertebral disk degenerationHP:0008419
- MeningiomaHP:0002858
- Neoplasm of the breastHP:0100013
- Neoplasm of the lungHP:0100526
- Neoplasm of the oral cavityHP:0100649
- Neoplasm of the skinHP:0008069
- Neoplasm of the small intestineHP:0100833
- Neoplasm of the thyroid glandHP:0100031
- Ovarian neoplasmHP:0100615
- Renal neoplasmHP:0009726
- Retinal degenerationHP:0000546
Occasional (29-5%)(6)
- Developmental cataractHP:0000519
- Exercise-induced myalgiaHP:0003738
- Finger clinodactylyHP:0040019
- Hip dysplasiaHP:0001385
- Increased bone mineral densityHP:0011001
- Mitral valve prolapseHP:0001634