Phenotype #0000130184

Global Variome shared LOVD

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

Individual ID	00165320
Associated disease	MYOP
Phenotype details	Patients presented with profound neonatal hypotonia, minimal respiratory effort, arthrogryposis, and multiple bone fractures, and deceased shortly after birth.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johann Böhm
Database submission license	No license selected
Created by	Johann Böhm
Date created	2018-07-09 11:59:56 +02:00 (CEST)
Date last edited	2018-07-09 16:03:53 +02:00 (CEST)

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