Phenotype #0000331096

Global Variome shared LOVD

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

Individual ID	00303564
Associated disease	epilepsy
Phenotype details	see paper; ..., microcephaly; global developmental delay; 3y-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; thickening of gyri; no dysmorphic features
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	14y02m (14 years, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-09 11:56:50 +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.