Phenotype #0000346481

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00458032
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	MMDS9B
Phenotype details	see paper; ..., hearing impairment; no optic atrophy; microcephaly, developmental regression, movement disorder, ataxia; MRI brain normal; infection related deterioration
Inheritance	Familial, autosomal recessive
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	4y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-25 22:17:59 +01:00 (CET)
Date last edited	N/A

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