Phenotype #0000341674

Global Variome shared LOVD

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

Individual ID	00453029
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	ACCPN
Phenotype details	early onset severe intellectual disability, hypotonia areflexia, mild dysmorphic facial features; dysarthric, strabismus, unable to stand/walk
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Muhammad Umair
Database submission license
Created by	Johan den Dunnen
Date created	2024-08-15 18:41:07 +02:00 (CEST)
Date last edited	N/A

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