Phenotype #0000082212

Individual ID 00104271
Associated disease RSMD
Phenotype details delayed motor milestones, never jump or run, wheelchair bound 34y; IHC SEPN1 low, spotted aggregates; WB no SEPN1; CPK 590
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2008-09-19 21:01:10 +02:00 (CEST)
Date last edited 2012-03-09 19:02:29 +01:00 (CET)

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