Cockayne syndrome

ORPHA:191 · Disease · Disorder

HPO 表現型（共 118 項）

Very frequent (99-80%)(12)

Abnormal retinal pigmentationHP:0007703
Atypical behaviorHP:0000708
CachexiaHP:0004326
Cerebellar atrophyHP:0001272
Cerebral dysmyelinationHP:0007266
Growth delayHP:0001510
Mental deteriorationHP:0001268
Pigmentary retinopathyHP:0000580
Postnatal growth retardationHP:0008897
Progressive microcephalyHP:0000253
Progressive sensorineural hearing impairmentHP:0000408
Severe short statureHP:0003510

Frequent (79-30%)(35)

Abnormal eye morphologyHP:0012372
AtaxiaHP:0001251
Basal ganglia calcificationHP:0002135
Carious teethHP:0000670
CataractHP:0000518
Cerebellar dentate nucleus calcificationHP:0002461
Cerebral atrophyHP:0002059
Cerebral calcificationHP:0002514
Cognitive impairmentHP:0100543
Congenital contractureHP:0002803
Contractures of the large jointsHP:0005781
Cutaneous photosensitivityHP:0000992
Decreased nerve conduction velocityHP:0000762
Deeply set eyeHP:0000490
Demyelinating peripheral neuropathyHP:0007108
Dry hairHP:0011359
Enamel hypoplasiaHP:0006297
Feeding difficulties in infancyHP:0008872
Fine hairHP:0002213
Gastroesophageal refluxHP:0002020
GliosisHP:0002171
Global developmental delayHP:0001263
High-frequency sensorineural hearing impairmentHP:0001757
Patchy demyelination of subcortical white matterHP:0002545
Peripheral neuropathyHP:0009830
Premature skin wrinklingHP:0100678
Progressive gait ataxiaHP:0007240
Progressive visual lossHP:0000529
Reduced subcutaneous adipose tissueHP:0003758
Retinal dystrophyHP:0000556
SeizureHP:0001250
Sensorimotor neuropathyHP:0007141
Skeletal muscle atrophyHP:0003202
Somatic sensory dysfunctionHP:0003474
Subcortical white matter calcificationsHP:0007346

Occasional (29-5%)(66)

Abnormal cornea morphologyHP:0000481
Abnormal dental morphologyHP:0006482
Abnormal electroretinogramHP:0000512
Abnormal epiphysis morphologyHP:0005930
Abnormal number of teethHP:0006483
Abnormal renal physiologyHP:0012211
Absence of pubertal developmentHP:0008197
Action tremorHP:0002345
AlacrimaHP:0000522
AnhidrosisHP:0000970
AreflexiaHP:0001284
AtherosclerosisHP:0002621
Axial hypotoniaHP:0008936
Band keratopathyHP:0000585
Convex nasal ridgeHP:0000444
Corneal ulcerationHP:0012804
CryptorchidismHP:0000028
Decreased lacrimationHP:0000633
Delayed eruption of primary teethHP:0000680
Delayed pubertyHP:0000823
Dental malocclusionHP:0000689
Developmental cataractHP:0000519
Developmental regressionHP:0002376
Diabetes mellitusHP:0000819
Elevated circulating hepatic transaminase concentrationHP:0002910
Focal retinal arteriolar constrictionHP:0008043
Gait disturbanceHP:0001288
Gastrostomy tube feeding in infancyHP:0011471
HepatomegalyHP:0002240
HypermetropiaHP:0000540
HyperreflexiaHP:0001347
HypertensionHP:0000822
HypertoniaHP:0001276
HyperuricemiaHP:0002149
HyporeflexiaHP:0001265
Inability to walkHP:0002540
Intellectual disabilityHP:0001249
Intention tremorHP:0002080
Keratoconjunctivitis siccaHP:0001097
KyphosisHP:0002808
LentiglobusHP:0011527
Limb hypertoniaHP:0002509
Malar rashHP:0025300
MiosisHP:0000616
Nephrotic syndromeHP:0000100
Neurogenic bladderHP:0000011
NystagmusHP:0000639
Optic atrophyHP:0000648
Optic disc pallorHP:0000543
Peripheral axonal neuropathyHP:0003477
PhotophobiaHP:0000613
Primary microcephalyHP:0011451
ProteinuriaHP:0000093
Renal hypoplasiaHP:0000089
Renal insufficiencyHP:0000083
Retinal degenerationHP:0000546
ScoliosisHP:0002650
SpasticityHP:0001257
SplenomegalyHP:0001744
Stooped postureHP:0025403
StrabismusHP:0000486
Thickened calvariaHP:0002684
Unilateral renal agenesisHP:0000122
Urinary incontinenceHP:0000020
Vascular calcificationHP:0004934
Weak cryHP:0001612

Very rare (<4-1%)(5)

Absent speechHP:0001344
Agenesis of permanent teethHP:0006349
MicrophthalmiaHP:0000568
Retinal atrophyHP:0001105
Retinal hemorrhageHP:0000573