Phenotypes for disease #05546 (THMD (thiamine metabolism dysfunction syndrome (THMD)))

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0000161584 neuropathy, bilateral striatal necrosis THMD-4 see paper; ... Familial, autosomal recessive - - - - Johan den Dunnen 00213103
0000161585 - - see paper; ... Familial, autosomal recessive 21y - 01y08m - Johan den Dunnen 00213107
0000171701 Leigh Syndrome THMD-2 encephalopathy, hypotonia, tremor, dystonia, chorea, opistothonus, nystagmus, jaundice, liver disease, weight loss, respiratory failure, dysphagia, ataxia; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, lactate on MRS; 14m-deceased Familial, autosomal recessive - - 13m viral infection Johan den Dunnen 00226589
0000171702 Leigh Syndrome THMD-2 encephalopathy, hypotonia, tremor, dystonia, opistothonus, spasticity, dysphagia; neuroimaging abnormalities: putamen, thalamus, corticosubcortical, lactate on MRS; outcome: movement disorder, encephalopathy, spasticity, microcephaly Familial, autosomal recessive 3y - 1m - Johan den Dunnen 00226590
0000171703 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, tremor, dystonia, status dystonicus, akinetic-rigid syndrome, spasticity, nystagmus, rhabdomyolisis, dysautonomia, dysarthria, hypoaesthesia, vertigo, dystonia, ptosis; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical; outcome: dystonia Familial, autosomal recessive 25y - 17y profuse exercise Johan den Dunnen 00226591
0000171704 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, tremor, dystonia, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus, lactate on MRS Familial, autosomal recessive 4y - 4y - Johan den Dunnen 00226592
0000171705 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, lactate on MRS Familial, autosomal recessive 7y - 2y viral infection Johan den Dunnen 00226593
0000171706 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, spinal cord, lactate on MRS Familial, autosomal recessive 12y - 8y viral infection Johan den Dunnen 00226594
0000171707 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, tremor, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, respiratory failure, rhabdomyolisis, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, spinal cord, lactate on MRS; 13y-deceased Familial, autosomal recessive - - 13y viral infection Johan den Dunnen 00226595
0000171708 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, tremor, dystonia, S ophtalmoplegia, dysarthria, dysphagia, respiratory failure, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, lactate on MRS; outcome: spasticity, intellectual disability, dystonia Familial, autosomal recessive 16y - 13y viral infection Johan den Dunnen 00226596
0000171709 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity, dysarthria, dysphagia; neuroimaging abnormalities: caudate, putamen, lactate on MRS; outcome: intellectual disability, dystonia Familial, autosomal recessive 10y - 6y viral infection Johan den Dunnen 00226597
0000171710 biotin responsive basal ganglia disease THMD-2 neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, spinal cord, lactate on MRS Familial, autosomal recessive 16y - - - Johan den Dunnen 00226598
0000171711 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, spinal cord, lactate on MRS Familial, autosomal recessive 8y - 4y2m - Johan den Dunnen 00226599
0000171712 biotin responsive basal ganglia disease THMD-2 neuroimaging abnormalities: caudate, putamen, thalamus, brainstem, spinal cord Familial, autosomal recessive 7y - - - Johan den Dunnen 00226600
0000171713 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, spinal cord, lactate on MRS Familial, autosomal recessive 12y - 8y viral infection Johan den Dunnen 00226601
0000171714 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, dystonia, spasticity, dysarthria; neuroimaging abnormalities: caudate, putamen; outcome: spasticity, intellectual disability, dystonia Familial, autosomal recessive 32y - 11y - Johan den Dunnen 00226602
0000171715 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, spinal cord; outcome: dystonia Familial, autosomal recessive 13y - 11y viral infection Johan den Dunnen 00226603
0000171716 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, spinal cord, lactate on MRS; outcome: spasticity, intellectual disability, dystonia Familial, autosomal recessive 5y - 2y viral infection Johan den Dunnen 00226604
0000171717 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen; outcome: intellectual disability, dystonia Familial, autosomal recessive 15y - 3y6m viral infection Johan den Dunnen 00226605
0000171718 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity, ophtalmoplegia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus, cerebellum Familial, autosomal recessive 13y - 11y viral infection Johan den Dunnen 00226606
0000171719 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical Familial, autosomal recessive 6y - 3y trauma Johan den Dunnen 00226607
0000171720 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, periqueductal, lactate on MRS Familial, autosomal recessive 11y - 8y viral infection Johan den Dunnen 00226608
0000171721 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, periqueductal, lactate on MRS Familial, autosomal recessive 13y - 9y trauma Johan den Dunnen 00226609
0000171722 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen; outcome: hypotonia, intellectual disability, dystonia Familial, autosomal recessive 4y - 1y viral infection Johan den Dunnen 00226610
0000171723 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity, dysarthria, dysphagia, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, periqueductal, spinal cord; outcome: spasticity, intellectual disability Familial, autosomal recessive 6y - 5y6m viral infection Johan den Dunnen 00226611
0000171724 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical Familial, autosomal recessive 4y1m - 47m viral infection Johan den Dunnen 00226612
0000171725 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, lactate on MRS; outcome: paroxysmal ataxia Familial, autosomal recessive 10y1m - 5y viral infection Johan den Dunnen 00226613
0000171726 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, spinal cord, lactate on MRS; outcome: microcephaly, hypotonia, intellectual disability, dystonia Familial, autosomal recessive 5y - 1y viral infection Johan den Dunnen 00226614
0000171727 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, ophtalmoplegia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus; outcome: dystonia Familial, autosomal recessive 20y - 15y trauma Johan den Dunnen 00226615
0000171728 biotin responsive basal ganglia disease THMD-2 encephalopathy, dystonia, nystagmus, dysarthria, dysphagia, seizures; neuroimaging abnormalities: caudate, putamen, globus pallidus, corticosubcortical; outcome: dystonia, spasticity, dysarthria Familial, autosomal recessive 25y - 29y urinary tract infection Johan den Dunnen 00226616
0000171729 biotin responsive basal ganglia disease THMD-2 encephalopathy, dystonia, opistothonus, spasticity, ophtalmoplegia, dysarthria, dysphagia, weight loss; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, brainstem; outcome: dystonia, spasticity, dysarthria, intellectual disability Familial, autosomal recessive 40y - 34y viral infection Johan den Dunnen 00226617
0000171730 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, status dystonicus, opistothonus, spasticity, dysarthria, dysphagia, liver disease, seizures, dystonia; neuroimaging abnormalities: caudate, putamen, thalamus; 12y-deceased Familial, autosomal recessive - - 3y viral infection Johan den Dunnen 00226618
0000171731 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, status dystonicus, chorea, spasticity, dysarthria, dysphagia, respiratory failure, seizures; neuroimaging abnormalities: caudate, putamen, thalamus; 13y-deceased Familial, autosomal recessive - - 9y viral infection Johan den Dunnen 00226619
0000171732 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, tremor, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, lactate on MRS; outcome: spasticity, intellectual disability, dystonia Familial, autosomal recessive 9y - 3y6m - Johan den Dunnen 00226620
0000171733 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, tremor, seizures; neuroimaging abnormalities: caudate, putamen, corticosubcortical; 13y-deceased Familial, autosomal recessive 13y - 1y6m gastroenteritis Johan den Dunnen 00226621
0000171734 Leigh Syndrome THMD-2 encephalopathy, paroxysmal ataxia, hypotonia, dystonia, dysarthria, strabismus; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, periqueductal, lactate on MRS Familial, autosomal recessive 4y - 19m pneumonia Johan den Dunnen 00226622
0000171735 asymptomatic THMD-2 asymptomatic Familial, autosomal recessive 2m - - - Johan den Dunnen 00226623
0000171736 asymptomatic THMD-2 asymptomatic Familial, autosomal recessive 2m - - - Johan den Dunnen 00226624
0000171737 Leigh Syndrome THMD-2 encephalopathy, hypotonia, tremor, spasticity, dysphagia, dysarthria, ataxia; neuroimaging abnormalities: caudate, putamen, thalamus, lactate on MRS; outcome: intellectual disability Familial, autosomal recessive 7y - 2y7m viral infection Johan den Dunnen 00226625
0000171738 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, dystonia, dysphagia, weight loss; neuroimaging abnormalities: caudate, thalamus, corticosubcortical; outcome: intellectual disability, dystonia Familial, autosomal recessive 14y - 3m - Johan den Dunnen 00226626
0000171739 Leigh Syndrome THMD-2 1m-deceased Familial, autosomal recessive 1m - 1m - Johan den Dunnen 00226627
0000171740 Leigh Syndrome THMD-2 1m-deceased Familial, autosomal recessive 1m - 1m - Johan den Dunnen 00226628
0000171741 Leigh Syndrome THMD-2 encephalopathy, hypotonia, tremor, dystonia, opistothonus, akinetic-rigid syndrome, spasticity, nystagmus; 42d-deceased Familial, autosomal recessive 1m15d - 1m - Johan den Dunnen 00226629
0000171742 Leigh Syndrome THMD-2 1m-deceased Familial, autosomal recessive - - 1m - Johan den Dunnen 00226630
0000171743 Leigh Syndrome THMD-2 1m-deceased Familial, autosomal recessive - - 1m - Johan den Dunnen 00226631
0000171744 Leigh Syndrome THMD-2 20y-deceased Familial, autosomal recessive 20y - 1m - Johan den Dunnen 00226632
0000171745 Leigh Syndrome THMD-2 15y-deceased Familial, autosomal recessive 15y - 1m - Johan den Dunnen 00226633
0000171746 Leigh Syndrome THMD-2 encephalopathy, hypotonia, dystonia, opistothonus, spasticity; neuroimaging abnormalities: putamen, globus pallidus, thalamus, corticosubcortical, brainstem; 2m-deceased Familial, autosomal recessive 2m - 1m - Johan den Dunnen 00226634
0000171747 Leigh Syndrome THMD-2 encephalopathy, hypotonia, tremor, dystonia, opistothonus, spasticity; neuroimaging abnormalities: putamen, globus pallidus, thalamus, corticosubcortical, cerebellum, brainstem; 9m-deceased Familial, autosomal recessive 9m - 1m - Johan den Dunnen 00226635
0000171748 Leigh Syndrome THMD-2 encephalopathy, hypotonia, tremor, dystonia, status dystonicus, chorea, opistothonus, spasticity; neuroimaging abnormalities: putamen, thalamus, corticosubcortical, corticosubcortical, lactate on MRS; outcome: hypotonia, microcephaly, intellectual disability, dystonia Familial, autosomal recessive 2y - 1m viral infection Johan den Dunnen 00226636
0000171749 Leigh Syndrome THMD-2 encephalopathy, hypotonia, tremor, dystonia, status dystonicus, opistothonus; neuroimaging abnormalities: caudate, putamen, globus pallidus, thalamus, corticosubcortical, cerebellum, brainstem; 3y6m-deceased Familial, autosomal recessive 3y6m - 3m15d - Johan den Dunnen 00226637
0000171750 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, dysarthria; neuroimaging abnormalities: caudate, putamen, corticosubcortical Familial, autosomal recessive 7y - 3y viral infection Johan den Dunnen 00226638
0000171751 biotin responsive basal ganglia disease THMD-2 paroxysmal ataxia; neuroimaging abnormalities: caudate, putamen, corticosubcortical Familial, autosomal recessive 5y - 3y6m viral infection Johan den Dunnen 00226639
0000171752 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem; outcome: hypotonia, intellectual disability, seizures Familial, autosomal recessive 3y - 3m - Johan den Dunnen 00226640
0000171753 biotin responsive basal ganglia disease THMD-2 dystonia, spasticity, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen; outcome: microcephaly, spasticity, seizures, intellectual disability, dystonia Familial, autosomal recessive 17y - 14m - Johan den Dunnen 00226641
0000171754 biotin responsive basal ganglia disease THMD-2 encephalopathy, dystonia, spasticity, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen, corticosubcortical, cerebellum; outcome: microcephaly, spasticity, seizures, intellectual disability, dystonia Familial, autosomal recessive 14y - 5m - Johan den Dunnen 00226642
0000171755 biotin responsive basal ganglia disease THMD-2 encephalopathy, dystonia, spasticity, strabismus, seizures, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical Familial, autosomal recessive 7y - 1y - Johan den Dunnen 00226643
0000171756 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, chorea; neuroimaging abnormalities: caudate, putamen, cerebellum; outcome: paroxysmal ataxia, intellectual disability, hypotonia Familial, autosomal recessive 4y - 5m vaccination Johan den Dunnen 00226644
0000171757 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, ataxia, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen, corticosubcortical, periqueductal; outcome: spasticity, scoliosis, dystonia Familial, autosomal recessive 13y - 3y - Johan den Dunnen 00226645
0000171758 biotin responsive basal ganglia disease THMD-2 encephalopathy, spasticity; neuroimaging abnormalities: caudate, putamen; outcome: dystonia Familial, autosomal recessive 24y - 2y viral infection Johan den Dunnen 00226646
0000171759 biotin responsive basal ganglia disease THMD-2 encephalopathy, paroxysmal ataxia, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen; outcome: dystonia, seizures Familial, autosomal recessive 25y - 4y - Johan den Dunnen 00226647
0000171760 biotin responsive basal ganglia disease THMD-2 spasticity, seizure; neuroimaging abnormalities: caudate, putamen, lactate on MRS Familial, autosomal recessive 13y - 6y - Johan den Dunnen 00226648
0000171761 biotin responsive basal ganglia disease THMD-2 neuroimaging abnormalities: caudate, putamen, globus pallidus, lactate on MRS; outcome: spasticity, seizures, hypotonia, intellectual disability, dystonia Familial, autosomal recessive 12y - 21m - Johan den Dunnen 00226649
0000171762 biotin responsive basal ganglia disease THMD-2 paroxysmal ataxia; neuroimaging abnormalities: caudate, putamen Familial, autosomal recessive 4y - 3y viral infection Johan den Dunnen 00226650
0000171763 biotin responsive basal ganglia disease THMD-2 paroxysmal ataxia, dysarthria, movement disorder; neuroimaging abnormalities: caudate, corticosubcortical Familial, autosomal recessive 8y - 3y6m - Johan den Dunnen 00226651
0000171764 biotin responsive basal ganglia disease THMD-2 encephalopathy, spasticity, dysphagia, liver disease, seizures; neuroimaging abnormalities: caudate, putamen, corticosubcortical, cerebellum; outcome: seizures, intellectual disability, dystonia Familial, autosomal recessive 18m - 4m meningitis Johan den Dunnen 00226652
0000171765 biotin responsive basal ganglia disease THMD-2 developmental arrest, spasticity, dysarthria, dysphagia; neuroimaging abnormalities: caudate, putamen, cerebral atrophy, cerebellar atrophy; outcome: paroxysmal ataxia, spasticity, intellectual disability Familial, autosomal recessive 4y - 23m viral infection Johan den Dunnen 00226653
0000171766 biotin responsive basal ganglia disease THMD-2 dysarthria Familial, autosomal recessive 5y - 3y - Johan den Dunnen 00226654
0000171767 biotin responsive basal ganglia disease THMD-2 developmental arrest Familial, autosomal recessive 3y7m - 3y - Johan den Dunnen 00226655
0000171768 biotin responsive basal ganglia disease THMD-2 encephalopathy, hypotonia, dystonia, status dystonicus, chorea, seizures, dysarthria; neuroimaging abnormalities: caudate, putamen, corticosubcortical, lactate on MRS; outcome: intellectual disability Familial, autosomal recessive 10y - 3y6m viral infection Johan den Dunnen 00226656
0000171769 biotin responsive basal ganglia disease THMD-2 encephalopathy, ophtalmoplegia, dystonia, status dystonicus, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, spinal cord Familial, autosomal recessive 14y - 9y6m viral infection Johan den Dunnen 00226657
0000171770 biotin responsive basal ganglia disease THMD-2 encephalopathy, tremor, Ptremor, vertigo, dysphagia, dysarthria, dysautonomia, spasticity; neuroimaging abnormalities: caudate, putamen, globus pallidus, thalamus, periqueductal, lactate on MRS Familial, autosomal recessive 27m - 23m viral infection Johan den Dunnen 00226658
0000171771 bilateral striatal necrosis and neuropathy THMD-4 encephalopathy, hypotonia, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen; outcome: peripheral neuropathy, ADHD Familial, autosomal recessive 14y - 6y febrile illness Johan den Dunnen 00226659
0000171772 bilateral striatal necrosis and neuropathy THMD-4 encephalopathy, hypotonia; neuroimaging abnormalities: caudate, putamen; outcome: peripheral neuropathy, ADHD Familial, autosomal recessive 14y - 6y6m febrile illness Johan den Dunnen 00226660
0000171773 bilateral striatal necrosis and neuropathy THMD-4 encephalopathy, hypotonia, status dystonicus, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen; outcome: peripheral neuropathy, movement disorder Familial, autosomal recessive 26y - 3y6m febrile illness Johan den Dunnen 00226661
0000171774 bilateral striatal necrosis and neuropathy THMD-4 encephalopathy, hypotonia, status dystonicus, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus; outcome: peripheral neuropathy, movement disorder Familial, autosomal recessive 24y - 4y febrile illness Johan den Dunnen 00226662
0000171775 bilateral striatal necrosis THMD-4 encephalopathy, tremor, dystonia, opistothonus, vertigo, ataxia, dysphagia; neuroimaging abnormalities: caudate, putamen, globus pallidus, corticosubcortical Familial, autosomal recessive 21y - 20m otitis media Johan den Dunnen 00226663
0000171776 Leigh Syndrome THMD-5 encephalopathy, encephalopathy, hypotonia, spasticity, hypoaesthesia, dysphagia, respiratory failure, seizures; neuroimaging abnormalities: caudate, putamen, globus pallidus, thalamus, brainstem, periqueductal, spinal cord, cerebellum-dentate; 29m-deceased Familial, autosomal recessive - - 6m viral infection Johan den Dunnen 00226664
0000171777 Leigh Syndrome THMD-5 encephalopathy, hypotonia, dystonia, spasticity, strabismus, hypoaesthesia, dysphagia; neuroimaging abnormalities: putamen, thalamus, cerebellum-dentate; outcome: spasticity, hypotonia, intellectual disability Familial, autosomal recessive 4y5m - 4m febrile illness Johan den Dunnen 00226665
0000171778 Leigh Syndrome THMD-5 hypotonia, liver disease, seizures; neuroimaging abnormalities: putamen, globus pallidus, cerebellum-dentate; 6m-deceased Familial, autosomal recessive - - 1m - Johan den Dunnen 00226666
0000171779 Leigh Syndrome THMD-5 spasticity; neuroimaging abnormalities: cerebellum-dentate; outcome: spasticity, movement disorder, microcephaly, intellectual disability Familial, autosomal recessive 7y - 2y6m viral infection Johan den Dunnen 00226667
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