Phenotype #0000159044

Individual ID 00210479
Associated disease DSMA1
Phenotype details Mild scoliosis and facial weakness, and minimal tongue fasciculation; bilateral equinovarus feet; excessive sweating; sit-7m
Diagnosis/Initial distal spinal muscualr atrophy
Inheritance Isolated (sporadic)
Diagnosis/Definite DSMA-1
Age/Examination -
Age/Diagnosis -
Age/Onset 3m
Phenotype/Onset feeding difficulties
Protein -
Owner name Jorge Oliveira
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-08-19 14:13:55 +02:00 (CEST)
Date last edited 2012-03-04 16:06:12 +01:00 (CET)

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