Phenotype #0000092255

Individual ID 00116776
Associated disease SMA2
Phenotype details first diagnosed as SMA type 2/3, sit unaided and stand while holding onto something, at 2y rapidly lost these abilities; 3y-bound to artificial ventilator (respiratory insufficiency)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 1y
Phenotype/Onset -
Protein -
Owner name Hisahide Nishio
Database submission license No license selected
Created by Hisahide Nishio
Date created 2014-11-12 21:09:46 +01:00 (CET)
Date last edited N/A

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