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Joubert syndrome with Jeune asphyxiating thoracic dystrophy
ORPHA:397715 · Clinical subtype · Subtype of disorder
HPO 表現型（共 73 項）
Frequent (79-30%)(10)
- Cerebellar hypoplasiaHP:0001321
- Elongated superior cerebellar peduncleHP:0011933
- Failure to thriveHP:0001508
- Frontal bossingHP:0002007
- Generalized hypotoniaHP:0001290
- Hyperechogenic kidneysHP:0004719
- Molar tooth sign on MRIHP:0002419
- Oculomotor apraxiaHP:0000657
- TachypneaHP:0002789
- VentriculomegalyHP:0002119
Occasional (29-5%)(63)
- Abnormal 5th metacarpal morphologyHP:0010013
- Abnormal acetabulum morphologyHP:0003170
- Abnormal basal ganglia morphologyHP:0002134
- Abnormal cerebellum morphologyHP:0001317
- Abnormal corpus callosum morphologyHP:0001273
- Abnormal optic disc morphologyHP:0012795
- Absent septum pellucidumHP:0001331
- Absent speechHP:0001344
- Aplasia/Hypoplasia involving bones of the thoraxHP:0006711
- ApneaHP:0002104
- Bell-shaped thoraxHP:0001591
- BrachydactylyHP:0001156
- Cerebellar vermis hypoplasiaHP:0001320
- Cervical spinal canal stenosisHP:0008445
- Chronic lung diseaseHP:0006528
- ColpocephalyHP:0030048
- Cone-shaped epiphysisHP:0010579
- Dandy-Walker malformationHP:0001305
- Depressed nasal bridgeHP:0005280
- Dilated third ventricleHP:0007082
- Duane anomalyHP:0009921
- Dysgenesis of the cerebellar vermisHP:0002195
- Early ossification of capital femoral epiphysesHP:0008797
- Elevated circulating hepatic transaminase concentrationHP:0002910
- Enlarged cisterna magnaHP:0002280
- EpicanthusHP:0000286
- Feeding difficultiesHP:0011968
- Gastroesophageal refluxHP:0002020
- Global developmental delayHP:0001263
- HypertelorismHP:0000316
- HypospadiasHP:0000047
- Increased intracranial pressureHP:0002516
- Lateral ventricle dilatationHP:0006956
- Long clavicleHP:0000890
- Low-set earsHP:0000369
- MeningoceleHP:0002435
- MicrognathiaHP:0000347
- MyopiaHP:0000545
- Occipital encephaloceleHP:0002085
- Open operculumHP:0100954
- Overfolded helixHP:0000396
- Postaxial polydactylyHP:0100259
- Posteriorly rotated earsHP:0000358
- Proximal femoral metaphyseal irregularityHP:0003411
- Recurrent aspiration pneumoniaHP:0002100
- Recurrent respiratory infectionsHP:0002205
- Redundant neck skinHP:0005989
- Renal cortical cystsHP:0000803
- Renal dysplasiaHP:0000110
- Renal insufficiencyHP:0000083
- Retinal dystrophyHP:0000556
- Rhizomelic arm shorteningHP:0004991
- Rhizomelic leg shorteningHP:0012106
- Short digitHP:0011927
- Short ribsHP:0000773
- Short statureHP:0004322
- Small cervical vertebral bodiesHP:0004629
- Subretinal depositsHP:0031528
- Supernumerary nippleHP:0002558
- Thoracic hypoplasiaHP:0005257
- Twelfth rib hypoplasiaHP:0006668
- Visual lossHP:0000572
- Wide intermamillary distanceHP:0006610