Phenotypes for disease #03268 (PKDYS1;DTDS (Parkinsonism-dystonia, infantile (PKDYS, dopamine transporter deficiency syndrome (DTDS))), OMIM:613135)

12 entries on 1 page. Showing entries 1 - 12.
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Phenotype details     

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Diagnosis/Definite     

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Age/Examination     

Age/Diagnosis     

Age/Onset     

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Individual ID     
0000092944 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Esther Meyer 00117474
0000092945 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Esther Meyer 00117475
0000092946 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Esther Meyer 00117476
0000092947 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Esther Meyer 00117477
0000092948 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Esther Meyer 00117478
0000092949 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Johan den Dunnen 00117479
0000092950 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Johan den Dunnen 00117480
0000092951 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Derek Lim 00117481
0000092952 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Esther Meyer 00117482
0000092953 Dopamine Transporter deficiency syndrome - - Unknown - - - - - Esther Meyer 00117483
0000203384 HP:0002015, HP:0002355, HP:0000750, HP:0002355, HP:0002015, HP:0002141, HP:0001347, HP:0000737, HP:0002451 dopamine transporter deficiency syndrome dopamine transporter deficiency syndrome Familial, autosomal recessive 03y? 03y? ? HP:0002015, HP:0002355, HP:0000750, HP:0002355, HP:0002015, HP:0002141, HP:0001347, HP:0000737, HP:0002451 SLC6A3 Ehsan Razmara 00265597
0000301090 infantile-onset rigidity, dystonia, or chorea; dopamine non-responsive parkinsonism; progressive frontal lobe degeneration - Parkinsonism-dystonia, infantile (PKDYS, dopamine transporter deficiency syndrome (DTDS)) Familial, autosomal recessive - - - - - LOVD 00408972
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