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Cockayne syndrome type 1
ORPHA:90321 · Clinical subtype · Subtype of disorder
HPO 表現型（共 57 項）
Very frequent (99-80%)(12)
- Abnormal facial shapeHP:0001999
- Absent brainstem auditory responsesHP:0004463
- Basal ganglia calcificationHP:0002135
- Cutaneous photosensitivityHP:0000992
- Deeply set eyeHP:0000490
- Elevated circulating hepatic transaminase concentrationHP:0002910
- Failure to thriveHP:0001508
- Foot joint contractureHP:0008366
- Hearing impairmentHP:0000365
- Intellectual disabilityHP:0001249
- Pigmentary retinopathyHP:0000580
- Postnatal growth retardationHP:0008897
Frequent (79-30%)(21)
- Abnormality of peripheral nerve conductionHP:0003134
- Abnormality of temperature regulationHP:0004370
- Abnormality of the dentitionHP:0000164
- AtaxiaHP:0001251
- CataractHP:0000518
- Decreased lacrimationHP:0000633
- DiarrheaHP:0002014
- Gait disturbanceHP:0001288
- HyperreflexiaHP:0001347
- HypertensionHP:0000822
- HypohidrosisHP:0000966
- Increased blood urea nitrogenHP:0003138
- Long faceHP:0000276
- Mandibular prognathiaHP:0000303
- Optic atrophyHP:0000648
- Postural instabilityHP:0002172
- Progeroid facial appearanceHP:0005328
- ProteinuriaHP:0000093
- ScoliosisHP:0002650
- TremorHP:0001337
- Visual impairmentHP:0000505
Occasional (29-5%)(22)
- AnemiaHP:0001903
- AnodontiaHP:0000674
- AnophthalmiaHP:0000528
- ConjunctivitisHP:0000509
- Delayed eruption of primary teethHP:0000680
- Enamel hypoplasiaHP:0006297
- HepatomegalyHP:0002240
- Hypermelanotic maculeHP:0001034
- Hypoplasia of the primary teethHP:0006334
- HypotoniaHP:0001252
- Lower limb spasticityHP:0002061
- MacrotiaHP:0000400
- NystagmusHP:0000639
- PhotophobiaHP:0000613
- Renal insufficiencyHP:0000083
- ScarringHP:0100699
- SeizureHP:0001250
- Short chinHP:0000331
- Sleep disturbanceHP:0002360
- StrabismusHP:0000486
- UveitisHP:0000554
- Widely spaced primary teethHP:0006313
Very rare (<4-1%)(2)
- CryptorchidismHP:0000028
- Male hypogonadismHP:0000026