Phenotype #0000243179

Global Variome shared LOVD

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

Individual ID	00324679
Associated disease	NDD
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Phenotype details	short stature; developmental delay/intellectual disability; epilepsy; hypotonia; no ptosis; hypothyroidism; cryptorchidism; patent ductus arteriosus, patent foramen ovale
Inheritance	Familial, autosomal recessive
Age/Examination	3y9m (3 years, 9 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-12-22 19:17:48 +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.