Phenotype #0000162327

Individual ID 00213875
Associated disease SMA
Phenotype details SMA-3; CPK elevated (HP:0003236); still able to walk (-HP:0006957) ; still able to walk (-HP:0006957)
Diagnosis/Initial spinal muscular atrophy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset toe walking, climbing stairs
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 2007-08-17 16:04:08 +02:00 (CEST)
Date last edited 2012-03-09 19:39:24 +01:00 (CET)

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