Phenotype #0000299843

Global Variome shared LOVD

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

Individual ID	00407696
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., developmental delay; no microcephaly; speech delayed sentences; 2y-first words; 16m-walk; intellectual disability; febrile seizures; no short stature; ophtalmological abnormality; no congenital heart defect; hearing impairment
Inheritance	Familial, autosomal recessive
Age/Examination	7y6m (7 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-04-07 21:57:45 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.