Phenotype #0000174775

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00234356
Associated disease	SMA
Phenotype details	see paper; ..., early motor milestones normal (9m-crawl, 15m-stand with support, 18m-walk; 2–3 years gait unsteady, hold on to furniture while waking; 5-6y assisted ambulation; 12y-wheelchair dependent; 14y-scoliosis surgery
Diagnosis/Initial	spinal muscular atrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SMA-3
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	03y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-05-10 11:37:14 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.