Phenotype #0000340199

Global Variome shared LOVD

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

Individual ID	00451462
Associated disease	LIS1
Phenotype details	Cerebral cortical atrophy, hypsarrhythmia, moderate intellectual disability
Diagnosis/Initial	Hyperbeta-alaninemia
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Lissencephaly 1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-06 23:19:55 +02:00 (CEST)
Date last edited	2024-06-18 16:16:39 +02:00 (CEST)

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