Phenotype #0000144959

Global Variome shared LOVD

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

Individual ID	00184282
Associated disease	?
Diagnosis/Initial	developmental delay
Diagnosis/Definite	FHEIG
Phenotype details	see paper, ..., facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth (FHEIG)
Inheritance	Isolated (sporadic)
Age/Examination	05y07m (5 years, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-10-31 21:22:30 +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.