Global Variome shared LOVD
SLC38A8 (solute carrier family 38, member 8)
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Curator:
Mohammed A.M Derar
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Phenotype #0000171854
Individual ID
00227848
Associated disease
CMCS
Phenotype details
severe hearing loss; cochlear implant; no motor delay; no communicative delay; no cognitive impairment; ventriculomegaly (R>L); corpus callosum posterior agenesis; heterotopia moderate; frontal polymicrogyria presentb; cerebellar dysplasia;
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
-
Protein
-
Owner name
LOVD
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2012-05-18 08:56:33 +02:00 (CEST)
Date last edited
N/A
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