Phenotype #0000038741

Global Variome shared LOVD

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

Individual ID	00052122
Associated disease	KLEFS
Intellectual_dis	mild
Diagnosis/Initial	-
Phenotype details	9q subtelomeric deletion syndrome; OFC <2nd; childhood hypotonia, facial dysmorphism; no heart defect, no epilepsy, gastro-oesophageal reflux, cryptorchidism (prenatal NT), MRI-corpus callosum hypoplasia; autism spectrum
Diagnosis/Definite	-
Inheritance	Isolated (sporadic)
Age/Examination	03y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	weight 2690 (<5th)
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2015-10-16 12:14:46 +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.