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Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
ORPHA:1816 · Malformation syndrome · Disorder
HPO 表現型（共 16 項）
Very frequent (99-80%)(16)
- Abnormal eyebrow morphologyHP:0000534
- Decreased fertilityHP:0000144
- Delayed eruption of teethHP:0000684
- Delayed pubertyHP:0000823
- Depressed nasal ridgeHP:0000457
- Generalized hirsutismHP:0002230
- Generalized hypopigmentationHP:0007513
- HypodontiaHP:0000668
- Hypoplasia of penisHP:0008736
- HypospadiasHP:0000047
- Intellectual disabilityHP:0001249
- Irregular hyperpigmentationHP:0007400
- Kidney stoneHP:0000787
- Palmoplantar keratodermaHP:0000982
- Shagreen patchHP:0009721
- Short statureHP:0004322