Disease #05546 (THMD (thiamine metabolism dysfunction syndrome (THMD)))

Official abbreviation THMD
Name thiamine metabolism dysfunction syndrome (THMD)
OMIM ID -
Inheritance -
Individuals reported having this disease 81
Phenotype entries for this disease 81
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2019-01-09 21:16:25 +01:00 (CET)
Date last edited 2019-03-09 20:32:19 +01:00 (CET)


Individuals

81 entries on 1 page. Showing entries 1 - 81.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00213103 19798730-Fam PubMed: Spiegel 2009 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents F;M yes Israel Arab, muslim - - - - THMD see paper; ... SLC25A19 SLC25A19 1 4 Johan den Dunnen
00213107 28856750-Pat75 PubMed: Ortigoza-Escobar 2017 - F yes Germany white - - - - THMD see paper; ... SLC25A19 SLC25A19 1 1 Johan den Dunnen
00226589 P1 PubMed: Ortigoza-Escobar 2017 - - no Spain white, European 14m - - - THMD 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 SLC19A3 SLC19A3 2 1 Johan den Dunnen
00226590 P2 PubMed: Ortigoza-Escobar 2017 - - yes Morocco Arab - - - - THMD encephalopathy, hypotonia, tremor, dystonia, opistothonus, spasticity, dysphagia; neuroimaging abnormalities: putamen, thalamus, corticosubcortical, lactate on MRS; outcome: movement disorder, encephalopathy, spasticity, microcephaly SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226591 P3 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no Spain white, European - - - - THMD 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 SLC19A3 SLC19A3 2 2 Johan den Dunnen
00226592 P4 PubMed: Ortigoza-Escobar 2017 P4 - no Spain white, European - - - - THMD encephalopathy, hypotonia, tremor, dystonia, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus, lactate on MRS SLC19A3 SLC19A3 2 1 Johan den Dunnen
00226593 P5 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, lactate on MRS SLC19A3 SLC19A3 1 2 Johan den Dunnen
00226594 P6 PubMed: Ortigoza-Escobar 2017 P6 - yes Saudi Arabia Arab - - - - THMD 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 SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226595 P7 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia Arab 13y - - - THMD 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 SLC19A3 SLC19A3 1 2 Johan den Dunnen
00226596 P8 PubMed: Ortigoza-Escobar 2017 P8 - yes Saudi Arabia Arab - - - - THMD 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 SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226597 P9 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity, dysarthria, dysphagia; neuroimaging abnormalities: caudate, putamen, lactate on MRS; outcome: intellectual disability, dystonia SLC19A3 SLC19A3 1 2 Johan den Dunnen
00226598 P10 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, spinal cord, lactate on MRS SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226599 P11 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD 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 SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226600 P12 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD neuroimaging abnormalities: caudate, putamen, thalamus, brainstem, spinal cord SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226601 P13 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, spinal cord, lactate on MRS SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226602 P14 PubMed: Ortigoza-Escobar 2017 P14 - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, dystonia, spasticity, dysarthria; neuroimaging abnormalities: caudate, putamen; outcome: spasticity, intellectual disability, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226603 P15 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, spinal cord; outcome: dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226604 P16 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD 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 SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226605 P17 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen; outcome: intellectual disability, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226606 P18 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity, ophtalmoplegia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus, cerebellum SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226607 P19 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226608 P20 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, periqueductal, lactate on MRS SLC19A3 SLC19A3 1 2 Johan den Dunnen
00226609 P21 PubMed: Ortigoza-Escobar 2017 P21 - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, periqueductal, lactate on MRS SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226610 P22 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen; outcome: hypotonia, intellectual disability, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226611 P23 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity, dysarthria, dysphagia, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, periqueductal, spinal cord; outcome: spasticity, intellectual disability SLC19A3 SLC19A3 1 2 Johan den Dunnen
00226612 P24 PubMed: Ortigoza-Escobar 2017 P24 - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226613 P25 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, lactate on MRS; outcome: paroxysmal ataxia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226614 P26 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD 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 SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226615 P27 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, ophtalmoplegia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus; outcome: dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226616 P28 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no Portugal white, European - - - - THMD encephalopathy, dystonia, nystagmus, dysarthria, dysphagia, seizures; neuroimaging abnormalities: caudate, putamen, globus pallidus, corticosubcortical; outcome: dystonia, spasticity, dysarthria SLC19A3 SLC19A3 2 2 Johan den Dunnen
00226617 P29 PubMed: Ortigoza-Escobar 2017 P29 - no Portugal white, European - - - - THMD encephalopathy, dystonia, opistothonus, spasticity, ophtalmoplegia, dysarthria, dysphagia, weight loss; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, brainstem; outcome: dystonia, spasticity, dysarthria, intellectual disability SLC19A3 SLC19A3 2 1 Johan den Dunnen
00226618 P30 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no Germany white, European 12y - - - THMD encephalopathy, paroxysmal ataxia, status dystonicus, opistothonus, spasticity, dysarthria, dysphagia, liver disease, seizures, dystonia; neuroimaging abnormalities: caudate, putamen, thalamus; 12y-deceased SLC19A3 SLC19A3 2 2 Johan den Dunnen
00226619 P31 PubMed: Ortigoza-Escobar 2017 P31 - no Germany white, European 13y - - - THMD encephalopathy, paroxysmal ataxia, status dystonicus, chorea, spasticity, dysarthria, dysphagia, respiratory failure, seizures; neuroimaging abnormalities: caudate, putamen, thalamus; 13y-deceased SLC19A3 SLC19A3 2 1 Johan den Dunnen
00226620 P32 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Morocco Arab - - - - THMD encephalopathy, hypotonia, tremor, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, lactate on MRS; outcome: spasticity, intellectual disability, dystonia SLC19A3 SLC19A3 1 2 Johan den Dunnen
00226621 P33 PubMed: Ortigoza-Escobar 2017 P33 - yes Morocco Arab 13y - - - THMD encephalopathy, hypotonia, tremor, seizures; neuroimaging abnormalities: caudate, putamen, corticosubcortical; 13y-deceased SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226622 P34 PubMed: Ortigoza-Escobar 2017 2-generation family, 3 affected, unaffected heterozygous carrier parents - no Iraq Arab - - - - THMD encephalopathy, paroxysmal ataxia, hypotonia, dystonia, dysarthria, strabismus; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, periqueductal, lactate on MRS SLC19A3 SLC19A3 1 3 Johan den Dunnen
00226623 P35 PubMed: Ortigoza-Escobar 2017 P35 - no Iraq Arab - - - - THMD asymptomatic SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226624 P36 PubMed: Ortigoza-Escobar 2017 P36 - no Iraq Arab - - - - THMD asymptomatic SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226625 P37 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes - Arab, Kurdish - - - - THMD encephalopathy, hypotonia, tremor, spasticity, dysphagia, dysarthria, ataxia; neuroimaging abnormalities: caudate, putamen, thalamus, lactate on MRS; outcome: intellectual disability SLC19A3 SLC19A3 1 2 Johan den Dunnen
00226626 P38 PubMed: Ortigoza-Escobar 2017 P38 - yes - Arab, Kurdish - - - - THMD encephalopathy, hypotonia, dystonia, dysphagia, weight loss; neuroimaging abnormalities: caudate, thalamus, corticosubcortical; outcome: intellectual disability, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226627 P39 PubMed: Ortigoza-Escobar 2017 2-generation family, 3 affected, unaffected heterozygous carrier parents - yes Morocco Arab 1m - - - THMD 1m-deceased SLC19A3 SLC19A3 1 3 Johan den Dunnen
00226628 P40 PubMed: Ortigoza-Escobar 2017 P40 - yes Morocco Arab 1m - - - THMD 1m-deceased SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226629 P41 PubMed: Ortigoza-Escobar 2017 - - yes Morocco Arab 42d - - - THMD encephalopathy, hypotonia, tremor, dystonia, opistothonus, akinetic-rigid syndrome, spasticity, nystagmus; 42d-deceased SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226630 P42 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes Morocco Arab 1m - - - THMD 1m-deceased SLC19A3 SLC19A3 1 2 Johan den Dunnen
00226631 P43 PubMed: Ortigoza-Escobar 2017 P43 - yes Morocco Arab 1m - - - THMD 1m-deceased SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226632 P44 PubMed: Ortigoza-Escobar 2017 family, several affected - no Morocco Arab 20y - - - THMD 20y-deceased SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226633 P45 PubMed: Ortigoza-Escobar 2017 family, several affected - no Morocco Arab 15y - - - THMD 15y-deceased SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226634 P46 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - no - African/Afro-Caribbean 2m - - - THMD encephalopathy, hypotonia, dystonia, opistothonus, spasticity; neuroimaging abnormalities: putamen, globus pallidus, thalamus, corticosubcortical, brainstem; 2m-deceased SLC19A3 SLC19A3 2 2 Johan den Dunnen
00226635 P47 PubMed: Ortigoza-Escobar 2017 P47 - no - African/Afro-Caribbean 9m - - - THMD encephalopathy, hypotonia, tremor, dystonia, opistothonus, spasticity; neuroimaging abnormalities: putamen, globus pallidus, thalamus, corticosubcortical, cerebellum, brainstem; 9m-deceased SLC19A3 SLC19A3 2 1 Johan den Dunnen
00226636 P48 PubMed: Ortigoza-Escobar 2017 - - no Finland white, European - - - - THMD encephalopathy, hypotonia, tremor, dystonia, status dystonicus, chorea, opistothonus, spasticity; neuroimaging abnormalities: putamen, thalamus, corticosubcortical, corticosubcortical, lactate on MRS; outcome: hypotonia, microcephaly, intellectual disability, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226637 P49 PubMed: Ortigoza-Escobar 2017 - - no Finland white, European 3y6m - - - THMD encephalopathy, hypotonia, tremor, dystonia, status dystonicus, opistothonus; neuroimaging abnormalities: caudate, putamen, globus pallidus, thalamus, corticosubcortical, cerebellum, brainstem; 3y6m-deceased SLC19A3 SLC19A3 2 1 Johan den Dunnen
00226638 P50 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, dysarthria; neuroimaging abnormalities: caudate, putamen, corticosubcortical SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226639 P51 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD paroxysmal ataxia; neuroimaging abnormalities: caudate, putamen, corticosubcortical SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226640 P52 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, hypotonia, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem; outcome: hypotonia, intellectual disability, seizures SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226641 P53 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD dystonia, spasticity, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen; outcome: microcephaly, spasticity, seizures, intellectual disability, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226642 P54 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD encephalopathy, dystonia, spasticity, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen, corticosubcortical, cerebellum; outcome: microcephaly, spasticity, seizures, intellectual disability, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226643 P55 PubMed: Ortigoza-Escobar 2017 - - no Saudi Arabia Arab - - - - THMD encephalopathy, dystonia, spasticity, strabismus, seizures, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226644 P56 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, hypotonia, chorea; neuroimaging abnormalities: caudate, putamen, cerebellum; outcome: paroxysmal ataxia, intellectual disability, hypotonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226645 P57 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, hypotonia, ataxia, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen, corticosubcortical, periqueductal; outcome: spasticity, scoliosis, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226646 P58 PubMed: Ortigoza-Escobar 2017 family, several affected - no Saudi Arabia Arab - - - - THMD encephalopathy, spasticity; neuroimaging abnormalities: caudate, putamen; outcome: dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226647 P59 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD encephalopathy, paroxysmal ataxia, dysarthria, seizures; neuroimaging abnormalities: caudate, putamen; outcome: dystonia, seizures SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226648 P60 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD spasticity, seizure; neuroimaging abnormalities: caudate, putamen, lactate on MRS SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226649 P61 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD neuroimaging abnormalities: caudate, putamen, globus pallidus, lactate on MRS; outcome: spasticity, seizures, hypotonia, intellectual disability, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226650 P62 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD paroxysmal ataxia; neuroimaging abnormalities: caudate, putamen SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226651 P63 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD paroxysmal ataxia, dysarthria, movement disorder; neuroimaging abnormalities: caudate, corticosubcortical SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226652 P64 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD encephalopathy, spasticity, dysphagia, liver disease, seizures; neuroimaging abnormalities: caudate, putamen, corticosubcortical, cerebellum; outcome: seizures, intellectual disability, dystonia SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226653 P65 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD developmental arrest, spasticity, dysarthria, dysphagia; neuroimaging abnormalities: caudate, putamen, cerebral atrophy, cerebellar atrophy; outcome: paroxysmal ataxia, spasticity, intellectual disability SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226654 P66 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Saudi Arabia Arab - - - - THMD dysarthria SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226655 P67 PubMed: Ortigoza-Escobar 2017 - - yes Saudi Arabia Arab - - - - THMD developmental arrest SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226656 P68 PubMed: Ortigoza-Escobar 2017 family, several affected - yes Morocco Arab - - - - THMD encephalopathy, hypotonia, dystonia, status dystonicus, chorea, seizures, dysarthria; neuroimaging abnormalities: caudate, putamen, corticosubcortical, lactate on MRS; outcome: intellectual disability SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226657 P69 PubMed: Ortigoza-Escobar 2017 - - yes Kuwait Arab - - - - THMD encephalopathy, ophtalmoplegia, dystonia, status dystonicus, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, spinal cord SLC19A3 SLC19A3 1 1 Johan den Dunnen
00226658 P70 PubMed: Ortigoza-Escobar 2017 - - no - white, Hispanic - - - - THMD encephalopathy, tremor, Ptremor, vertigo, dysphagia, dysarthria, dysautonomia, spasticity; neuroimaging abnormalities: caudate, putamen, globus pallidus, thalamus, periqueductal, lactate on MRS SLC19A3 SLC19A3 2 1 Johan den Dunnen
00226659 P71 PubMed: Ortigoza-Escobar 2017 2-generation family, 42 affected, unaffected heterozygous carrier parents - yes Israel Arab - - - - THMD encephalopathy, hypotonia, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen; outcome: peripheral neuropathy, ADHD SLC25A19 SLC25A19 1 4 Johan den Dunnen
00226660 P72 PubMed: Ortigoza-Escobar 2017 P72 - yes Israel Arab - - - - THMD encephalopathy, hypotonia; neuroimaging abnormalities: caudate, putamen; outcome: peripheral neuropathy, ADHD SLC25A19 SLC25A19 1 1 Johan den Dunnen
00226661 P73 PubMed: Ortigoza-Escobar 2017 P73 - yes Israel Arab - - - - THMD encephalopathy, hypotonia, status dystonicus, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen; outcome: peripheral neuropathy, movement disorder SLC25A19 SLC25A19 1 1 Johan den Dunnen
00226662 P74 PubMed: Ortigoza-Escobar 2017 P74 - yes Israel Arab - - - - THMD encephalopathy, hypotonia, status dystonicus, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus; outcome: peripheral neuropathy, movement disorder SLC25A19 SLC25A19 1 1 Johan den Dunnen
00226663 P75 PubMed: Ortigoza-Escobar 2017 - - yes Germany white, European - - - - THMD encephalopathy, tremor, dystonia, opistothonus, vertigo, ataxia, dysphagia; neuroimaging abnormalities: caudate, putamen, globus pallidus, corticosubcortical SLC25A19 SLC25A19 1 1 Johan den Dunnen
00226664 P76 PubMed: Ortigoza-Escobar 2017 2-generation family, 2 affected, unaffected heterozygous carrier parents - yes China Asian 29m - - - THMD encephalopathy, encephalopathy, hypotonia, spasticity, hypoaesthesia, dysphagia, respiratory failure, seizures; neuroimaging abnormalities: caudate, putamen, globus pallidus, thalamus, brainstem, periqueductal, spinal cord, cerebellum-dentate; 29m-deceased TPK1 TPK1 1 2 Johan den Dunnen
00226665 P77 PubMed: Ortigoza-Escobar 2017 P77 - yes China Asian - - - - THMD encephalopathy, hypotonia, dystonia, spasticity, strabismus, hypoaesthesia, dysphagia; neuroimaging abnormalities: putamen, thalamus, cerebellum-dentate; outcome: spasticity, hypotonia, intellectual disability TPK1 TPK1 1 1 Johan den Dunnen
00226666 P78 PubMed: Ortigoza-Escobar 2017 family, several affected - no Finland white, European 6m - - - THMD hypotonia, liver disease, seizures; neuroimaging abnormalities: putamen, globus pallidus, cerebellum-dentate; 6m-deceased TPK1 TPK1 1 1 Johan den Dunnen
00226667 P79 PubMed: Ortigoza-Escobar 2017 - - yes India - - - - - THMD spasticity; neuroimaging abnormalities: cerebellum-dentate; outcome: spasticity, movement disorder, microcephaly, intellectual disability TPK1 TPK1 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.