Phenotype #0000236677

Global Variome shared LOVD

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

Individual ID	00311430
Associated disease	NDD
Diagnosis/Initial	developmental delay
Diagnosis/Definite	-
Phenotype details	no perinatal history; severe developmental delay/intellectual disability; seizures,hypotonia, autistic traits; no malformation/anomalies; normal stature (SD 0.74), normal weight (SD 0.9), OFC normal (SD 1.93); craniofacial dysmorphisms
Inheritance	Isolated (sporadic)
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-25 11:13:06 +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.