Phenotype #0000174773

Individual ID	00234355
Associated disease	SMA
Phenotype details	see paper; ..., normal early motor milestones, walking on toes, slow in grade school activities, often uses hand assist going up and down steps; high school slight weakness hips; disease declared itself in early 20s (falling); very slight levoscoliosis; SMA type IIIb
Diagnosis/Initial	spinal muscular atrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SMA-3
Age/Examination	42y (42 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-05-10 11:17:41 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD