Phenotype #0000236393

Global Variome shared LOVD

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

Individual ID	00311138
Associated disease	CAKUT
Phenotype details	renal ultrasound normal; hypertelorsism, small ears, thick lips, high palate, facial dysmorphsims; obstructive sleep apnoea; developmental delay, mild intellectual disability, seizures, autism, psychosis
Diagnosis/Initial	CAKUT
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-19 17:29:02 +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.