Phenotype #0000337307

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00448115
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	-
Phenotype details	delayed motor milestones; profpound neurodevelopmental impairment; epilepsy; MRI brain cerebellar atrophy; microcephaly, thick protruding lips, thin sparse brittle hair, sparse eyebrows; scoliosis or kyphoscoliosis; tapered fingers; dysphagia
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-15 19:21:32 +01:00 (CET)
Date last edited	N/A

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