Phenotypes for disease #00449 (MLDB (leukodystrophy, metachromatic, due to saposin-B deficiency), OMIM:249900)

31 entries on 1 page. Showing entries 1 - 31.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000016226 - - - Isolated (sporadic) - - - - - Johan den Dunnen 00017867
0000027611 see paper - - Isolated (sporadic) - - - - - Johan den Dunnen 00034215
0000029099 juvenile form - - Familial, autosomal recessive 05y - 04y06m - - Mirella Filocamo 00038645
0000029107 juvenile form - - Familial, autosomal recessive - - 06y - - Mirella Filocamo 00038713
0000029108 juvenile form - - Familial, autosomal recessive 07y - 07y - - Mirella Filocamo 00038714
0000029109 adult form - - Familial, autosomal recessive - - 20y - - Mirella Filocamo 00038715
0000029110 late infantile form - - Familial, autosomal recessive - - 02y - - Mirella Filocamo 00038716
0000029111 late infantile form - - Familial, autosomal recessive - - 02y - - Mirella Filocamo 00038717
0000029112 late infantile form - - Familial, autosomal recessive - - 02y - - Mirella Filocamo 00038718
0000029113 Late infantile form - - Familial, autosomal recessive 02y06m - 01y08m - - Mirella Filocamo 00038725
0000029114 juvenile form - - Familial, autosomal recessive 02y01m - 02y - - Mirella Filocamo 00038726
0000029115 late infantile form - - Familial, autosomal recessive 00y09m - 00y07m - - Mirella Filocamo 00038727
0000029117 late infantile form - - Familial, autosomal recessive - - 00y12m - - Mirella Filocamo 00038728
0000029123 see paper, extensive description - - Isolated (sporadic) - - - - - Johan den Dunnen 00038735
0000029139 late infantile form - - Familial, autosomal recessive - - 02y06m - - Mirella Filocamo 00038785
0000029140 late infantile form - - Familial, autosomal recessive - - 02y03m - - Mirella Filocamo 00038786
0000029141 late infantile form - - Familial, autosomal recessive - - 02y04m - - Mirella Filocamo 00038787
0000029142 juvenile form - - Familial, autosomal recessive - - 04y - - Mirella Filocamo 00038788
0000029143 juvenile form - - Familial, autosomal recessive - - 04y - - Mirella Filocamo 00038789
0000029144 late infantile form - - Familial, autosomal recessive - - 01y06m - - Mirella Filocamo 00038790
0000029145 late infantile form - - Familial, autosomal recessive - - 01y03m - - Mirella Filocamo 00038791
0000029146 pre-symptomatic - - Familial, autosomal recessive - - - - - Mirella Filocamo 00038792
0000029150 late infantile form - - Familial, autosomal recessive - - 03y - - Mirella Filocamo 00038802
0000029151 late infantile form - - Familial, autosomal recessive - - 03y - - Mirella Filocamo 00038803
0000029152 pre-symptomatic - - Familial, autosomal recessive - - - - - Mirella Filocamo 00038804
0000029153 late infantile form - - Familial, autosomal recessive - - 01y08m - - Mirella Filocamo 00038805
0000029154 late infantile form - - Familial, autosomal recessive - - 01y06m - - Mirella Filocamo 00038806
0000029155 late infantile form - - Familial, autosomal recessive - - 00y05m - - Mirella Filocamo 00038807
0000029156 late infantile form - - Familial, autosomal recessive - - 03y08m - - Mirella Filocamo 00038808
0000138588 - - - Familial, autosomal recessive - 04y 01y10m - - Martina Skopkova 00173735
0000272249 - - - Familial, autosomal dominant 02y05m 02y05m 01y10m - - Shuyuan Yan 00377058
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