Phenotypes for disease #03298 (HMNDYT1 (Hypermanganesemia with dystonia 1), OMIM:613280)

15 entries on 1 page. Showing entries 1 - 15.
Legend   How to query  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000085557 dystonia; Hypermanganesemia - - Familial, autosomal recessive 12y - - - - Johan den Dunnen 00107794
0000085558 dystonia; Hypermanganesemia - - Familial, autosomal recessive 08y - - - - Johan den Dunnen 00107795
0000085559 dystonia; Hypermanganesemia - - Familial, autosomal recessive 04y - - - - Johan den Dunnen 00107796
0000085560 dystonia; Hypermanganesemia - - Familial, autosomal recessive 12y - - - - Johan den Dunnen 00107797
0000085561 dystonia, hepatomegaly, hepatic cirrhosis; Hypermanganesemia - - Familial, autosomal recessive 18y - - - - Johan den Dunnen 00107798
0000085562 dystonia, hepatomegaly, hepatic cirrhosis; Hypermanganesemia - - Familial, autosomal recessive 21y - - - - Johan den Dunnen 00107799
0000085563 spastic paraparesis, hepatomegaly, hepatic cirrhosis; Hypermanganesemia - - Familial, autosomal recessive 37y - - - - Johan den Dunnen 00107800
0000085564 dystonia; Hypermanganesemia - - Familial, autosomal recessive 18y - - - - Johan den Dunnen 00107801
0000085565 dystonia; Hypermanganesemia - - Familial, autosomal recessive 16y - - - - Johan den Dunnen 00107802
0000085566 dystonia; Hypermanganesemia - - Familial, autosomal recessive 11y - - - - Johan den Dunnen 00107803
0000085567 dystonia, hepatomegaly; Hypermanganesemia - - Familial, autosomal recessive 09y - - - - Johan den Dunnen 00107804
0000085568 dystonia; Hypermanganesemia - - Familial, autosomal recessive 12y - - - - Johan den Dunnen 00107805
0000085569 dystonia, hepatic cirrhosis; Hypermanganesemia - - Familial, autosomal recessive 25y - - - - Johan den Dunnen 00107806
0000085570 dystonia, hepatic cirrhosis; Hypermanganesemia - - Familial, autosomal recessive 24y - - - - Johan den Dunnen 00107807
0000085571 dystonia, hepatomegaly; Hypermanganesemia - - Familial, autosomal recessive 07y - - - - Johan den Dunnen 00107808
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.