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Laron syndrome with immunodeficiency
ORPHA:220465 · Disease · Disorder
HPO 表現型（共 27 項）
Very frequent (99-80%)(2)
- Decreased circulating insulin-like growth factor 1 concentrationHP:0030353
- Severe postnatal growth retardationHP:0008850
Frequent (79-30%)(12)
- Abnormally high-pitched voiceHP:0001620
- Chronic lung diseaseHP:0006528
- Decreased circulating insulin-like growth factor-binding protein acid labile subunit concentrationHP:0045046
- Delayed pubertyHP:0000823
- Eczematoid dermatitisHP:0000964
- Hashimoto thyroiditisHP:0000872
- Increased circulating prolactin concentrationHP:0000870
- Lymphocytic interstitial pneumoniaHP:0006527
- Marked delay in bone ageHP:0003799
- Prominent foreheadHP:0011220
- Pulmonary fibrosisHP:0002206
- Short statureHP:0004322
Occasional (29-5%)(12)
- AlopeciaHP:0001596
- Autoimmune thrombocytopeniaHP:0001973
- Celiac diseaseHP:0002608
- Chronic diarrheaHP:0002028
- Decreased total T cell countHP:0005403
- Failure to thrive in infancyHP:0001531
- Increased circulating immunoglobulin concentrationHP:0010702
- Juvenile rheumatoid arthritisHP:0005681
- Psoriasiform dermatitisHP:0003765
- Recurrent herpesHP:0005353
- Recurrent pneumoniaHP:0006532
- Severe varicella zoster infectionHP:0032170
Excluded (0%)(1)
- Reduced circulating growth hormone concentrationHP:0034323