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Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
ORPHA:300570 · Disease · Disorder
HPO 表現型（共 79 項）
Obligate (100%)(1)
- SeizureHP:0001250
Very frequent (99-80%)(1)
- Global developmental delayHP:0001263
Frequent (79-30%)(27)
- Abnormal cerebellar vermis morphologyHP:0002334
- Abnormality of eye movementHP:0000496
- Axial hypotoniaHP:0008936
- Bilateral ptosisHP:0001488
- Cerebellar hypoplasiaHP:0001321
- Delayed ability to sitHP:0025336
- Delayed fine motor developmentHP:0010862
- Delayed gross motor developmentHP:0002194
- EsotropiaHP:0000565
- Expressive language delayHP:0002474
- Feeding difficulties in infancyHP:0008872
- Hypoplasia of the brainstemHP:0002365
- Hypoplasia of the corpus callosumHP:0002079
- Inability to walkHP:0002540
- Intellectual disabilityHP:0001249
- LissencephalyHP:0001339
- NystagmusHP:0000639
- Partial agenesis of the corpus callosumHP:0001338
- PolymicrogyriaHP:0002126
- Poor speechHP:0002465
- Postnatal growth retardationHP:0008897
- Severe global developmental delayHP:0011344
- Simplified gyral patternHP:0009879
- Spastic ataxiaHP:0002497
- SpasticityHP:0001257
- StrabismusHP:0000486
- Type II lissencephalyHP:0007260
Occasional (29-5%)(50)
- Abnormal autonomic nervous system physiologyHP:0012332
- Abnormal basal ganglia morphologyHP:0002134
- Abnormal best corrected visual acuity testHP:0030534
- Abnormal saccadic eye movementsHP:0000570
- Abnormal thalamus morphologyHP:0010663
- Agenesis of the anterior commissureHP:0030302
- Bilateral sensorineural hearing impairmentHP:0008619
- Cerebellar vermis hypoplasiaHP:0001320
- Congenital fibrosis of extraocular musclesHP:0001491
- Cubitus valgusHP:0002967
- Delayed early-childhood social milestone developmentHP:0012434
- Downslanted palpebral fissuresHP:0000494
- DysarthriaHP:0001260
- Dysgenesis of the hippocampusHP:0025101
- DystoniaHP:0001332
- Emotional labilityHP:0000712
- EpicanthusHP:0000286
- Flat occiputHP:0005469
- Focal-onset seizureHP:0007359
- Genu valgumHP:0002857
- Grasp reflexHP:0030903
- High palateHP:0000218
- Hypoplasia of the olfactory bulbHP:0040326
- Impaired masticationHP:0005216
- InsomniaHP:0100785
- Joint hypermobilityHP:0001382
- KyphoscoliosisHP:0002751
- Large basal gangliaHP:0007048
- Lateral ventricle dilatationHP:0006956
- Low-set earsHP:0000369
- MacrocephalyHP:0000256
- Metatarsus adductusHP:0001840
- MicrognathiaHP:0000347
- Motor stereotypyHP:0000733
- Normal pressure hydrocephalusHP:0002343
- Oculomotor apraxiaHP:0000657
- Optic nerve hypoplasiaHP:0000609
- PlagiocephalyHP:0001357
- Primary microcephalyHP:0011451
- Reduced social responsivenessHP:0012760
- Sensorineural hearing impairmentHP:0000407
- Short attention spanHP:0000736
- Short footHP:0001773
- Small basal gangliaHP:0012697
- Small handHP:0200055
- Spastic diplegiaHP:0001264
- Spastic tetraplegiaHP:0002510
- Thoracic scoliosisHP:0002943
- TorticollisHP:0000473
- Visual lossHP:0000572