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Zellweger syndrome
ORPHA:912 · Disease · Disorder
HPO 表現型（共 55 項）
Very frequent (99-80%)(25)
- Abnormal pinna morphologyHP:0000377
- Cognitive impairmentHP:0100543
- Corneal opacityHP:0007957
- Death in infancyHP:0001522
- Depressed nasal bridgeHP:0005280
- Diminished deep tendon reflexHP:0001315
- EEG abnormalityHP:0002353
- EpicanthusHP:0000286
- Epiphyseal stipplingHP:0010655
- Failure to thriveHP:0001508
- Feeding difficulties in infancyHP:0008872
- Flat faceHP:0012368
- Hepatic failureHP:0001399
- HepatomegalyHP:0002240
- High foreheadHP:0000348
- JaundiceHP:0000952
- Profound global developmental delayHP:0012736
- Respiratory insufficiencyHP:0002093
- Severe muscular hypotoniaHP:0006829
- Short statureHP:0004322
- Skeletal dysplasiaHP:0002652
- Upslanted palpebral fissureHP:0000582
- Very long chain fatty acid accumulationHP:0008167
- Wide anterior fontanelHP:0000260
- Wide nasal bridgeHP:0000431
Frequent (79-30%)(23)
- Abnormal chorioretinal morphologyHP:0000532
- CataractHP:0000518
- Clitoral hypertrophyHP:0008665
- CryptorchidismHP:0000028
- Flat occiputHP:0005469
- High palateHP:0000218
- HydronephrosisHP:0000126
- HypospadiasHP:0000047
- MacrocephalyHP:0000256
- MalabsorptionHP:0002024
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- Multicystic kidney dysplasiaHP:0000003
- NystagmusHP:0000639
- Optic atrophyHP:0000648
- PolymicrogyriaHP:0002126
- Posterior embryotoxonHP:0000627
- Premature birthHP:0001622
- Pyloric stenosisHP:0002021
- SeizureHP:0001250
- Sensorineural hearing impairmentHP:0000407
- Underdeveloped supraorbital ridgesHP:0009891
- Visual impairmentHP:0000505
Occasional (29-5%)(7)
- Abnormality of coagulationHP:0001928
- Abnormality of the tongueHP:0000157
- Brushfield spotsHP:0001088
- GlaucomaHP:0000501
- Primary adrenal insufficiencyHP:0008207
- Thickened nuchal skin foldHP:0000474
- Ventricular septal defectHP:0001629