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Lipodystrophy-intellectual disability-deafness syndrome
ORPHA:50811 · Disease · Disorder
HPO 表現型（共 13 項）
Very frequent (99-80%)(13)
- Dense metaphyseal bandsHP:0100959
- Failure to thriveHP:0001508
- Generalized lipodystrophyHP:0009064
- Global developmental delayHP:0001263
- Intellectual disabilityHP:0001249
- Intrauterine growth retardationHP:0001511
- OsteopeniaHP:0000938
- Progeroid facial appearanceHP:0005328
- Sensorineural hearing impairmentHP:0000407
- Short statureHP:0004322
- Slender buildHP:0001533
- Slender long bones with narrow diaphysesHP:0004993
- Small for gestational ageHP:0001518