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Rabson-Mendenhall syndrome
ORPHA:769 · Malformation syndrome · Disorder
HPO 表現型（共 56 項）
Frequent (79-30%)(27)
- Abnormality of the dentitionHP:0000164
- Acanthosis nigricansHP:0000956
- Clitoral hypertrophyHP:0008665
- Dental crowdingHP:0000678
- Dry skinHP:0000958
- Elevated circulating C-peptide concentrationHP:0030796
- Enlarged ovariesHP:0100879
- Fasting hyperinsulinemiaHP:0008283
- Fasting hypoglycemiaHP:0003162
- Global developmental delayHP:0001263
- HirsutismHP:0001007
- HypertrichosisHP:0000998
- Increased circulating androgen concentrationHP:0030348
- Increased serum testosterone levelHP:0030088
- Insulin resistanceHP:0000855
- Insulin-resistant diabetes mellitusHP:0000831
- Intellectual disabilityHP:0001249
- Intrauterine growth retardationHP:0001511
- Lichenoid skin lesionHP:0031452
- Long penisHP:0000040
- OnychauxisHP:0012542
- Postprandial hyperglycemiaHP:0011998
- Recurrent infectionsHP:0002719
- Reduced subcutaneous adipose tissueHP:0003758
- Severe postnatal growth retardationHP:0008850
- Short statureHP:0004322
- Thick hairHP:0100874
Occasional (29-5%)(29)
- Advanced eruption of teethHP:0006288
- Anteverted naresHP:0000463
- Atrial septal defectHP:0001631
- CardiomyopathyHP:0001638
- CNS demyelinationHP:0007305
- Coarse facial featuresHP:0000280
- Delayed skeletal maturationHP:0002750
- Diabetic ketoacidosisHP:0001953
- Furrowed tongueHP:0000221
- Gingival overgrowthHP:0000212
- High palateHP:0000218
- HypokalemiaHP:0002900
- HypothyroidismHP:0000821
- Impaired glucose toleranceHP:0040270
- Increased pineal volumeHP:0012686
- Low anterior hairlineHP:0000294
- MacroglossiaHP:0000158
- MacrotiaHP:0000400
- Mandibular prognathiaHP:0000303
- NephrocalcinosisHP:0000121
- Peripheral neuropathyHP:0009830
- PolydactylyHP:0010442
- PolydipsiaHP:0001959
- Precocious pubertyHP:0000826
- Premature graying of hairHP:0002216
- Prominent nasal bridgeHP:0000426
- RetinopathyHP:0000488
- Ventricular septal defectHP:0001629
- Wide noseHP:0000445