Phenotype #0000328701

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00438803
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	born at term, weight 3.660kg (77th percentile), height 47cm (6th), OFC 35cm (67th); severe developmental delay; 7y-9y-first assisted steps; stereotyped hand movements, behavioural problems, normal OFC, hyperlaxity, mild dysmorphic features, non-specific MRI brain abnormalities; able to walk without support, when standing hyperlordosis noticeable, ould make vocal contact, no clear speech
Inheritance	Familial, autosomal recessive
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-24 15:55:37 +02:00 (CEST)
Date last edited	N/A