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Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
ORPHA:163654 · Disease · Disorder
HPO 表現型（共 39 項）
Frequent (79-30%)(39)
- Abnormal metatarsal morphologyHP:0001832
- Abnormal palate morphologyHP:0000174
- Abnormality of the chinHP:0000306
- Abnormality of the voiceHP:0001608
- Anteverted naresHP:0000463
- Aplasia/Hypoplasia involving the pelvisHP:0009103
- BlepharophimosisHP:0000581
- BrachydactylyHP:0001156
- Broad long bonesHP:0005622
- Broad neckHP:0000475
- CryptorchidismHP:0000028
- Cubitus valgusHP:0002967
- Cuboid-shaped vertebral bodiesHP:0004634
- Curly eyelashesHP:0007665
- Curly hairHP:0002212
- Delayed skeletal maturationHP:0002750
- Depressed nasal bridgeHP:0005280
- Enlarged thoraxHP:0100625
- Facial hirsutismHP:0009937
- Hypoplastic pelvisHP:0008839
- Limited pronation/supination of forearmHP:0006394
- Long philtrumHP:0000343
- Low posterior hairlineHP:0002162
- MicrotiaHP:0008551
- Multiple rows of eyelashesHP:0008496
- Nail dysplasiaHP:0002164
- Narrow philtrumHP:0011829
- Pectus excavatumHP:0000767
- Rhizo-meso-acromelic limb shorteningHP:0005069
- Short long boneHP:0003026
- Short neckHP:0000470
- Short statureHP:0004322
- Short thoraxHP:0010306
- Thick eyebrowHP:0000574
- Thick lower lip vermilionHP:0000179
- Thick upper lip vermilionHP:0000215
- Upslanted palpebral fissureHP:0000582
- Wide mouthHP:0000154
- Wide nasal bridgeHP:0000431