Phenotypes for disease #05109 (JBTS (Joubert syndrome (JBTS)))

565 entries on 6 pages. Showing entries 1 - 100.
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0000043063 Joubert syndrome like phenotype - - Familial, autosomal recessive - - - - - Irfan Ullah 00056381
0000043071 Joubert syndrome - - Unknown - - - - - Johan den Dunnen 00056054
0000043072 Joubert syndrome - - Unknown - - - - - Johan den Dunnen 00056048
0000043073 Joubert syndrome - - Unknown - - - - - Johan den Dunnen 00056049
0000045419 She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Midly ventriculomegaly - - Familial, autosomal recessive - - - - - Enza Maria Valente 00058830
0000045420 He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual, abnormal ocular movements were observed in this proband. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. CC hypoplasia - - Familial, autosomal recessive - - - - - Enza Maria Valente 00058831
0000045421 He presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. - - Familial, autosomal recessive - - - - - Enza Maria Valente 00058832
0000045422 She presented with a neurological phenotype consisting of hypotonia, developmental delay and cognitive impairment. Ataxia and neonatal breathing abnormalities were reported in this individual. There was no involvement of other organs such as the retina, kidneys, liver and skeleton. Strabismus is reported. - - Familial, autosomal recessive - - - - - Enza Maria Valente 00058833
0000045424 Fetus (SW-476410) was diagnosed in utero with tecto-cerebellar dysraphia with occipital encephalocele findings in the spectrum of JS, due to the presence of a suboccipital encephalocele, dysplastic tectum, severe hypoplasia of the cerebellar vermis, and the MTS. In addition, post-mortem examination revealed cleft palate, narrow thorax with short ribs and secondary lung hypoplasia, and discrete rhizomelic shortening of limbs. Liver and kidneys were normal, and no polydactyly was observed. - - Familial, autosomal recessive - - - - - Enza Maria Valente 00058835
0000053527 see paper;... - - Familial, autosomal recessive 01y - - - - Johan den Dunnen 00017647
0000053528 see paper; ... - - Familial, autosomal recessive 12y - - - - Johan den Dunnen 00017707
0000053529 see paper; gastrostomy tube, third-nerve palsy, Ptosis, Retina, nystagmus, oculomotor apraxia, Apnea, Tachypnea,... - - Familial, autosomal recessive 04y - - - - Johan den Dunnen 00017792
0000053530 see paper; ... - - Familial, autosomal recessive - - - - - Johan den Dunnen 00017793
0000053531 see paper; ... - - Familial, autosomal recessive 10y - - - - Johan den Dunnen 00017794
0000053532 see paper; ... - - Familial, autosomal recessive 14y - - - - Johan den Dunnen 00017795
0000053533 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00017796
0000053534 Hearing Loss, Ptosis, Tachypnea - - Familial, autosomal recessive 02y - - - - Johan den Dunnen 00017801
0000053535 Ptosis, liver fibrosis on biopsy, splenomegaly, elevated transaminases, chronic sinusitis - - Familial, autosomal recessive 21y - - - - Johan den Dunnen 00017802
0000053536 Ptosis, elevated transaminases, chronic sinusitis - - Familial, autosomal recessive 16y - - - - Johan den Dunnen 00017803
0000053537 Apnea or Tachypnea, Ptosis, cleft palate, hypertelorism - - Familial, autosomal recessive 06y - - - - Johan den Dunnen 00017804
0000053538 Tachipnea, Retina, Ptosis, Nystagmus, High-arched palate - - Familial, autosomal recessive 22y - - - - Johan den Dunnen 00017805
0000053539 1x Tachypnea, obese, oculomotor apraxia 16y+9y - - Familial, autosomal recessive - - - - - Johan den Dunnen 00017806
0000053540 UW143-3 (5y):Tachypnea, Ptosis, hypertelorism, CPEO, mild left optic disc pallor UW143-4 (2y): hypertelorism, restricted upward gaze - - Familial, autosomal recessive - - - - - Johan den Dunnen 00017807
0000053541 Apnea or Tachypnea, Ptosis, Jeune asphyxiating thoracic dystrophy (short ribs, bell-shaped chest, pulmonary hypoplasia, abnormal iliac notches), nasogastric tube, Hearing Loss, high-arched palate - - Familial, autosomal recessive 00y07m - - - - Johan den Dunnen 00017808
0000053542 tachypnea or apnea, ptosis, oculomotor apraxia - - Familial, autosomal recessive 09y - - - - Johan den Dunnen 00017809
0000053543 ptosis - - Familial, autosomal recessive 06y - - - - Johan den Dunnen 00017810
0000053544 stillbirth 26w; hydranencephaly, a single nostril, and bilateral hyperechogenic kidneys, cephalocentesis, occipitofrontal circumference (OFC) of 39 cm; large fontanels and wide cranial sutures, occipital encephalocele, anophthalmia - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00017812
0000053545 stillborn 18; occipital encephalocele, bilateral hyperechogenic kidneys, partially fused eyes - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00017813
0000053546 global developmental delay, hypotonia, ataxia, strabismus; neuroimaging confirmed presence molar tooth sign, otherwise healthy, history of racheoesophageal fistula (also seen healthy sister) - - Familial, autosomal recessive 07y - - - - Marianne Vos (LOVD-team) 00017814
0000053547 died at 3w, autopsy not performed, no clinical evidence renal malformations or other congenital anomalies; AP dimension of the mesencephalon was smaller than expected. The superior cerebellar peduncles were thick and had a more parallel configuration,giving rise to the molar tooth sign. The cerebellar vermis appeared hypoplastic, the medulla was mildly narrowed, and a mega cisterna magna was also seen - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00017816
0000053548 died at 28d; birth respiratory distress, absent inferior cerebellar vermis, dysplastic superior cerebellar vermis, posterior fossa cyst communicating with the fourth ventricle, and a molar tooth sign secondary to thickened horizontal superior cerebellar peduncles and a reduced anteroposterior (AP) dimension of the mesencephalon - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00017815
0000081565 Developmental delay; breathing abnormality; molar tooth sign - - Unknown 8y - - - - Johan den Dunnen 00103638
0000081566 Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, ? syndactyly left hand - - Unknown 1y6m - - - - Johan den Dunnen 00103639
0000081567 Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign - - Unknown 3y - - - - Johan den Dunnen 00103640
0000081568 Developmental delay; oculomotor apraxia; breathing abnormality - - Unknown 52y - - - - Johan den Dunnen 00103641
0000081569 Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign - - Unknown 45y - - - - Johan den Dunnen 00103642
0000081570 Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, preaxial and postaxial polydactyly fo the four limbs - - Unknown 4y - - - - Johan den Dunnen 00103643
0000081571 Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign - - Unknown 10y - - - - Johan den Dunnen 00103644
0000081572 Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign - - Unknown 7y - - - - Johan den Dunnen 00103645
0000081573 Developmental delay; oculomotor apraxia; molar tooth sign - - Unknown 13y - - - - Johan den Dunnen 00103646
0000081574 Developmental delay; oculomotor apraxia; molar tooth sign - - Unknown 31y - - - - Johan den Dunnen 00103647
0000081575 - - - Familial, autosomal recessive - - - - - Anas M Alazami 00103648
0000081577 - - - Isolated (sporadic) - - - - - Anita Rauch 00103650
0000081578 - - - Isolated (sporadic) - - - - - Anita Rauch 00103651
0000081579 - - - Isolated (sporadic) - - - - - Anita Rauch 00103652
0000081580 - - - Isolated (sporadic) - - - - - Anita Rauch 00103653
0000081899 Mild Cerebellar vermal hypoplasia, mild Molar tooth sign; Perisylvian polymicrogyria; Oculomotor apraxia; Congenital bilateral ptosis; Dysmorphic facial features; Postaxial polydactyly of hands and feet; Macrocephaly; Neurodevelopmental delay; Dysarthria; Gait ataxia - - Familial, autosomal recessive - - - - - Enza Maria Valente 00103967
0000081900 phenotype details: Mild Cerebellar vermal hypoplasia, mild Molar tooth sign; Perisylvian polymicrogyria; Oculomotor apraxia; Congenital bilateral ptosis; Dysmorphic facial features; Postaxial polydactyly of hands and feet; Macrocephaly; Neurodevelopmental delay; Dysarthria; Gait ataxia - - Familial, autosomal recessive - - - - - Enza Maria Valente 00103968
0000082207 Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; right hand Postaxial polydactyly; global macrosomia; Neurodevelopmental delay; Dysarthria; Gait ataxia - - Familial, autosomal recessive - - - - - Enza Maria Valente 00104077
0000082210 Mild Molar tooth sign; Oculomotor apraxia; nystagmus; Dysmorphic facial features; Neurodevelopmental delay; Dysarthria; Gait ataxia - - Familial, autosomal recessive - - - - - Enza Maria Valente 00104268
0000083231 - - - Familial, autosomal recessive - - - - - Rafiullah Rafiullah 00105224
0000083232 - - - Familial, autosomal recessive - - - - - Rafiullah Rafiullah 00105223
0000129099 see paper; ... Joubert syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00163996
0000141999 developmental delay, ataxia ptosis, rod cone dystrophy, night blindness, bilateral visual pathway involvement; left multicystic dysplastic kidney, right grade I hydronephrosis Single palmar crease, pectus carinatum, normal Auditory Brainstem Response Joubert Syndrome JBTS35 Familial, autosomal recessive 05y 05y 00y03m - - John Sayer 00179519
0000142000 Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Recurrent UTI Renal scarring bilaterally Thermoregulation problems; episode of transverse myelitis Joubert syndrome Joubert syndrome Familial, autosomal recessive 21y 21y 00y06m - - John Sayer 00179520
0000142001 Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss Normal renal USS Thermoregulation problems; sleep apnoea Joubert syndrome Joubert Syndrome Familial, autosomal recessive 12y 12y 00y06m - - John Sayer 00179521
0000142002 Developmental delay, ataxia Rod cone dystrophy, night blindness, progressive visual loss, oculomotor apraxia Recurrent UTI Unequal kidney size Joubert syndrome Joubert syndrome Familial, autosomal recessive 09y 09y 00y06m - - John Sayer 00179522
0000170837 cystic kidneys no characteristic of Meckel syndrome; no liver anomalies; oculomotor apraxia, myopia; ataxia, hypotonia, cerebellar vemis agenesis, mental retardation; no polydactily Joubert syndrome JBTS-9 Familial, autosomal recessive 4y - - - - Johan den Dunnen 00225726
0000170838 cystic kidneys no characteristic of Meckel syndrome; no liver anomalies; oculomotor apraxia, abnormal eye movements, optic disc; ataxia, hypotonia, mental retardation, molar tooth sign; no polydactily Joubert syndrome JBTS-9 Familial, autosomal recessive 19y - - - - Johan den Dunnen 00225727
0000187795 see paper; ..., global developmental delay global developmental delay JBTS-33 Familial, autosomal recessive - - - - - Johan den Dunnen 00248827
0000187796 see paper; ... Joubert syndrome JBTS-33 Familial, autosomal recessive - - - - - Johan den Dunnen 00248828
0000187797 see paper; ... Joubert syndrome JBTS-33 Familial, autosomal recessive - - - - - Johan den Dunnen 00248829
0000187798 see paper; ... Joubert syndrome JBTS-33 Familial, autosomal recessive - - - - - Johan den Dunnen 00248830
0000187799 see paper; ... Joubert syndrome JBTS-33 Familial, autosomal recessive - - - - - Johan den Dunnen 00248831
0000187800 see paper; ..., narrow thorax, pelvic bone malformation, retinal degeneration due to cone-rod dystrophy in childhood, no impairment renal function Joubert syndrome JBTS-33 Familial, autosomal recessive - - - - - Johan den Dunnen 00248832
0000207259 - - - Familial, autosomal recessive - - - - - Jinu Han 00269435
0000207260 - - - Familial, autosomal recessive - - - - - Jinu Han 00269436
0000207261 - - - Familial, autosomal recessive - - - - - Jinu Han 00269437
0000207263 - - - Familial, autosomal recessive - - - - - Jinu Han 00269438
0000207294 - - - Familial, autosomal recessive - - - - - Jinu Han 00269470
0000207571 severe psychomotor delay; cerebellar vermis agenesis or hypoplasia; progressive renal dysfunction at infantile; 18y-dialysis; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; peculiar face: hyperterolism, saddle nose, large mouth; dehydration, growth retardation, fever of unknown origin ; urinary examination: hypo-osmolality, high-level of beta2-microgloblin and/or NAG; polycystic kidney Arima syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00269767
0000207572 severe psychomotor delay; cerebellar vermis agenesis or hypoplasia; progressive renal dysfunction at infantile; 17y-dialysis; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; peculiar face: hyperterolism, saddle nose, large mouth; dehydration, growth retardation, fever of unknown origin ; urinary examination: hypo-osmolality, high-level of beta2-microgloblin and/or NAG; ERG: no response or low voltage; polycystic kidney Arima syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00269768
0000207573 severe psychomotor delay; cerebellar vermis agenesis or hypoplasia, encephalocele; progressive renal dysfunction at infantile; 11y-dialysis; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; urinary examination: hypo-osmolality, high-level of beta2-microgloblin and/or NAG; ERG: no response or low voltage; polycystic kidney; nephronophthisis Arima syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00269769
0000207574 severe psychomotor delay; cerebellar vermis agenesis or hypoplasia; progressive renal dysfunction at infantile; 7y-dialysis/7; 14y-renal transplantation; visual dysfunction from early stage; retinitis pigmentosa; unilateral or bilateral ptosis-like facial appearance; peculiar face: hyperterolism, saddle nose, large mouth; dehydration, growth retardation, fever of unknown origin ; urinary examination: hypo-osmolality, high-level of beta2-microgloblin and/or NAG; ERG: no response or low voltage; polycystic kidney; nephronophthisis Arima syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00269770
0000207575 see paper; ... Joubert syndrome JBTS-1 Familial, autosomal recessive - - - - - Johan den Dunnen 00269771
0000207576 see paper; ... Joubert syndrome JBTS-5 Familial, autosomal recessive - - - - - Johan den Dunnen 00269772
0000207577 see paper; ... Joubert syndrome JBTS-6 Familial, autosomal recessive - - - - - Johan den Dunnen 00269773
0000207578 see paper; ... Joubert syndrome JBTS-5 Familial, autosomal recessive - - - - - Johan den Dunnen 00269774
0000207579 see paper; ... Joubert syndrome JBTS-5 Familial, autosomal recessive - - - - - Johan den Dunnen 00269775
0000230530 see paper; ... Joubert Syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00303450
0000230531 see paper; ... Joubert Syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00303451
0000230532 see paper; ... Joubert Syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00303452
0000230533 see paper; ... Joubert Syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00303453
0000230534 see paper; ... Joubert Syndrome - Familial, autosomal recessive - - - - - Johan den Dunnen 00303454
0000234845 see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; seizures; hysterectomy 2016 (heavy bleeding); worsening visual acuity Joubert syndrome JBTS30 Familial, autosomal recessive 33y - - - - Johan den Dunnen 00309525
0000234846 see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; polydactyly; no coloboma; ptosis; no seizures; lithium-induced hypo-thyroidism; L foot postaxial polydactyly Joubert syndrome JBTS30 Familial, autosomal recessive 29y - - - - Johan den Dunnen 00309526
0000234847 see paper; ..., developmental disability; abnormal eye movements; retinal dystrophy; no seizures; abnormal ERG Joubert syndrome JBTS30 Familial, autosomal recessive 10y - - - - Johan den Dunnen 00309527
0000234848 see paper; ..., developmental disability; apnea, tachypnea; abnormal eye movements; no retinal dystrophy; no polydactyly; no coloboma; ptosis; seizures; G-tube Joubert syndrome JBTS30 Familial, autosomal recessive 8y - - - - Johan den Dunnen 00309528
0000234849 see paper; ..., developmental disability; apnea, tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; no seizures Joubert syndrome JBTS30 Familial, autosomal recessive 5y - - - - Johan den Dunnen 00309529
0000234850 see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; no seizures; single heterotopia (left occipital horn) Joubert syndrome JBTS30 Familial, autosomal recessive 7y - - - - Johan den Dunnen 00309530
0000234851 see paper; ..., developmental disability; apnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; ptosis; no seizures; micrognathia; high palate; bifid uvula; bilateral optic nerve hypoplasia; GH deficiency; micropenis; eyelid implants; possible hearing loss; borderline HSM Joubert syndrome JBTS30 Familial, autosomal recessive 2y - - - - Johan den Dunnen 00309531
0000234852 see paper; ..., developmental disability; tachypnea; no polydactyly; ptosis; no seizures; Dandy Walker malformation; ventriculo- and cysto-peritoneal shunts; non-ambulatory; 8y-no speech Joubert syndrome JBTS30 Familial, autosomal recessive 8y - - - - Johan den Dunnen 00309532
0000234853 see paper; ..., developmental disability; transient neonatal apnea/tachypnea; abnormal eye movements; no kidney abnormality; no liver abnormality; no polydactyly; ptosis; no seizures; Joubert syndrome JBTS30 Familial, autosomal recessive 7y - - - - Johan den Dunnen 00309533
0000234854 see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; retinal dystrophy; no kidney abnormality; no liver abnormality; polydactyly; no coloboma; ptosis; no seizures; broad nasal bridge; thin upper lip; Y-shaped 2/3 toe syndactyly Joubert syndrome JBTS30 Familial, autosomal recessive 4y - - - - Johan den Dunnen 00309534
0000234855 see paper; ..., developmental disability; transient neonatal apnea/tachypnea; no abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; ptosis; no seizures Joubert syndrome JBTS30 Familial, autosomal recessive 5y - - - - Johan den Dunnen 00309535
0000254097 severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; liver symptoms; no encephalocele; no polydactyly Joubert syndrome - Unknown - - - - - LOVD 00358839
0000254098 moderate intellectual disability; moderate developmental delay to severe developmental delay; neonatal dysregulated breathing; retina problems; no coloboma; no kidney problems; no liver symptoms; encephalocele; no polydactyly Joubert syndrome - Unknown - - - - - LOVD 00358840
0000254099 severe intellectual disability; severe developmental delay; neonatal dysregulated breathing; retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; polydactyly Joubert syndrome - Unknown - - - - - LOVD 00358841
0000254100 moderate intellectual disability; mild developmental delay; hypotonia; no retina problems; no coloboma; kidney problems; no liver symptoms; no encephalocele; no polydactyly Joubert syndrome - Unknown - - - - - LOVD 00358842
0000254101 mild to moderate intellectual disability; mild developmental delay; ataxia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly Joubert syndrome - Unknown - - - - - LOVD 00358843
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