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Short stature-wormian bones-dextrocardia syndrome
ORPHA:2863 · Malformation syndrome · Disorder
HPO 表現型(共 25 項)
Very frequent (99-80%)(25)
- Abnormal dermatoglyphicsHP:0007477
- Abnormality of the philtrumHP:0000288
- Anal atresiaHP:0002023
- Anterior hypopituitarismHP:0000830
- BrachydactylyHP:0001156
- Broad alveolar ridgesHP:0000187
- Camptodactyly of fingerHP:0100490
- Cognitive impairmentHP:0100543
- CryptorchidismHP:0000028
- Delayed eruption of teethHP:0000684
- Depressed nasal tipHP:0000437
- DextrocardiaHP:0001651
- Downslanted palpebral fissuresHP:0000494
- High palateHP:0000218
- Long eyelashesHP:0000527
- Low-set earsHP:0000369
- MicrognathiaHP:0000347
- Midshaft hypospadiasHP:0012854
- Patent ductus arteriosusHP:0001643
- Renal hypoplasia/aplasiaHP:0008678
- Short statureHP:0004322
- SpasticityHP:0001257
- Tooth agenesisHP:0009804
- Wide nasal bridgeHP:0000431
- Wormian bonesHP:0002645