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Infantile systemic hyalinosis
ORPHA:2176 · Clinical subtype · Subtype of disorder
HPO 表現型（共 37 項）
Very frequent (99-80%)(37)
- Abnormal dental morphologyHP:0006482
- Abnormality of the adrenal glandsHP:0000834
- Abnormality of the gastrointestinal tractHP:0011024
- Abnormality of the musculatureHP:0003011
- Aplasia/Hypoplasia of the thymusHP:0010515
- BrachydactylyHP:0001156
- Camptodactyly of fingerHP:0100490
- Chronic diarrheaHP:0002028
- Coarse facial featuresHP:0000280
- Failure to thriveHP:0001508
- Feeding difficultiesHP:0011968
- Gingival overgrowthHP:0000212
- Growth delayHP:0001510
- Hyperpigmentation of the skinHP:0000953
- HypotoniaHP:0001252
- ImmunodeficiencyHP:0002721
- Increased susceptibility to fracturesHP:0002659
- Joint stiffnessHP:0001387
- LymphedemaHP:0001004
- MacrocephalyHP:0000256
- MalabsorptionHP:0002024
- MicromeliaHP:0002983
- OsteomalaciaHP:0002749
- OsteopeniaHP:0000938
- OsteoporosisHP:0000939
- Polycystic ovariesHP:0000147
- Recurrent bacterial infectionsHP:0002718
- Recurrent fracturesHP:0002757
- Severe short statureHP:0003510
- Short neckHP:0000470
- Short palmHP:0004279
- Skin ulcerHP:0200042
- SteatorrheaHP:0002570
- Subcutaneous noduleHP:0001482
- Telangiectasia of the skinHP:0100585
- Thickened skinHP:0001072
- UrticariaHP:0001025