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Fryns-Smeets-Thiry syndrome
ORPHA:2058 · Malformation syndrome · Disorder
HPO 表現型（共 19 項）
Very frequent (99-80%)(19)
- ArachnodactylyHP:0001166
- CachexiaHP:0004326
- Disproportionate tall statureHP:0001519
- Downturned corners of mouthHP:0002714
- Everted lower lip vermilionHP:0000232
- Hip dislocationHP:0002827
- HypotoniaHP:0001252
- Intellectual disabilityHP:0001249
- Joint hypermobilityHP:0001382
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- Narrow nasal bridgeHP:0000446
- Patellar aplasiaHP:0006443
- Prominent nasal bridgeHP:0000426
- ScoliosisHP:0002650
- Short philtrumHP:0000322
- Short statureHP:0004322
- Thick lower lip vermilionHP:0000179
- Wide mouthHP:0000154