Phenotype #0000295650

Individual ID	00402899
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	21m-deceased; intrauterine growth restriction; round facies, infra-lateral periorbital fullness, mild synophrys, deeply grooved philtrum, tented mouth, vaulted palate, micrognathia; severe global developmental delay; normal growth; microcephaly OFC (-2.6 SD); axial and peripheral hypotonia, decreased deep tendon reflexes, laryngomalacia; MRI brain normal; mild hyperopia; mild hearing loss; oxygen supplementation, gastrostomy feeding, severe gastresophageal reflux disease
Inheritance	Familial, autosomal recessive
Age/Examination	21m
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-14 10:40:27 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD