Phenotype #0000223347

Global Variome shared LOVD

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

Individual ID	00295870
Associated disease	HMNDYT2
Diagnosis/Initial	4 limbs spastic cerebral palsy,Neuroferritinopathy
Diagnosis/Definite	Hypermanganesemia
Phenotype details	increased muscle tone,microcephaly,global developmental delay,profound physical disability.
Inheritance	Familial, autosomal recessive
Age/Examination	01y (1 year)
Age/Diagnosis	05y
Age/Onset	00y08m
Phenotype/Onset	increased muscle tone
Owner name	Adel ZEeglam
Database submission license	No license selected
Created by	Adel ZEeglam
Date created	2020-03-29 20:25:55 +02:00 (CEST)
Date last edited	2020-03-30 03:01:10 +02:00 (CEST)

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