← 返回搜尋
Oculocerebrorenal syndrome of Lowe
ORPHA:534 · Malformation syndrome · Disorder
HPO 表現型（共 120 項）
Very frequent (99-80%)(22)
- Abnormal pupil morphologyHP:0000615
- Abnormal renal tubule morphologyHP:0000091
- Abnormality of the voiceHP:0001608
- AmblyopiaHP:0000646
- AminoaciduriaHP:0003355
- AnxietyHP:0000739
- AphasiaHP:0002381
- AreflexiaHP:0001284
- CataractHP:0000518
- DehydrationHP:0001944
- DepressionHP:0000716
- GlomerulopathyHP:0100820
- HypercalciuriaHP:0002150
- HyponatremiaHP:0002902
- Intellectual disabilityHP:0001249
- Motor stereotypyHP:0000733
- Neonatal hypotoniaHP:0001319
- NystagmusHP:0000639
- ProteinuriaHP:0000093
- Proximal renal tubular acidosisHP:0002049
- Renal insufficiencyHP:0000083
- Short statureHP:0004322
Frequent (79-30%)(35)
- Abnormal circulating calcium-phosphate regulating hormone concentrationHP:0100530
- ArthritisHP:0001369
- Attention deficit hyperactivity disorderHP:0007018
- Benign neoplasm of the central nervous systemHP:0100835
- BuphthalmosHP:0000557
- ClonusHP:0002169
- Compulsive behaviorsHP:0000722
- ConstipationHP:0002019
- CryptorchidismHP:0000028
- Decreased circulating vitamin D concentrationHP:0100512
- Deeply set eyeHP:0000490
- EEG abnormalityHP:0002353
- Failure to thriveHP:0001508
- Feeding difficulties in infancyHP:0008872
- Fine hairHP:0002213
- Frontal bossingHP:0002007
- Full cheeksHP:0000293
- Generalized hypopigmentationHP:0007513
- GlaucomaHP:0000501
- HyperparathyroidismHP:0000843
- HypokalemiaHP:0002900
- Joint hypermobilityHP:0001382
- Joint swellingHP:0001386
- Long faceHP:0000276
- Neoplasm of the skinHP:0008069
- OsteomalaciaHP:0002749
- Posteriorly rotated earsHP:0000358
- Protruding earHP:0000411
- Recurrent fracturesHP:0002757
- ScoliosisHP:0002650
- SeizureHP:0001250
- Self-injurious behaviorHP:0100716
- Sparse scalp hairHP:0002209
- ThrombocytopeniaHP:0001873
- VentriculomegalyHP:0002119
Occasional (29-5%)(63)
- Abnormal dental enamel morphologyHP:0000682
- Abnormal epiphysis morphologyHP:0005930
- Abnormal metaphysis morphologyHP:0000944
- Abnormal rib morphologyHP:0000772
- Abnormality of the dentitionHP:0000164
- AnemiaHP:0001903
- AtelectasisHP:0100750
- Atypical scarring of skinHP:0000987
- AzoospermiaHP:0000027
- Carious teethHP:0000670
- CheilitisHP:0100825
- Chorioretinal dysplasiaHP:0007731
- Chronic otitis mediaHP:0000389
- Corneal opacityHP:0007957
- Death in infancyHP:0001522
- Deep philtrumHP:0002002
- Delayed eruption of teethHP:0000684
- Delayed pubertyHP:0000823
- Dental crowdingHP:0000678
- Diabetes insipidusHP:0000873
- Everted lower lip vermilionHP:0000232
- Flat occiputHP:0005469
- Gastroesophageal refluxHP:0002020
- Genu valgumHP:0002857
- GingivitisHP:0000230
- HematuriaHP:0000790
- Hip dislocationHP:0002827
- HypercholesterolemiaHP:0003124
- HypoammonemiaHP:0100493
- HypophosphatemiaHP:0002148
- Increased circulating aldosterone concentrationHP:0000859
- Increased circulating lactate concentrationHP:0002151
- Inguinal herniaHP:0000023
- Joint stiffnessHP:0001387
- Kidney stoneHP:0000787
- KyphosisHP:0002808
- Lacrimation abnormalityHP:0000632
- LentiglobusHP:0011527
- Long philtrumHP:0000343
- MalabsorptionHP:0002024
- Mandibular prognathiaHP:0000303
- MicrognathiaHP:0000347
- MicrophthalmiaHP:0000568
- Multiple renal cystsHP:0005562
- Narrow palateHP:0000189
- NephrocalcinosisHP:0000121
- Odontogenic neoplasmHP:0100612
- OligosacchariduriaHP:0010471
- Open biteHP:0010807
- Open mouthHP:0000194
- Patellar dislocationHP:0002999
- PeriodontitisHP:0000704
- PlatyspondylyHP:0000926
- Recurrent respiratory infectionsHP:0002205
- Respiratory insufficiencyHP:0002093
- Skin ulcerHP:0200042
- StrabismusHP:0000486
- TaurodontiaHP:0000679
- Thin upper lip vermilionHP:0000219
- Tooth agenesisHP:0009804
- Umbilical herniaHP:0001537
- Upslanted palpebral fissureHP:0000582
- Urogenital fistulaHP:0100589