Global Variome shared LOVD

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Phenotype #0000133802 Individual ID 00168941 Associated disease RMFSL Phenotype details neurodevelopmental delay, mild-moderate intellectual disability,congenital non-progressive ataxia, generalized hypotonia, decreased muscle strength and trophism, bilateral pes planus, severe dysarthria, strabismus and nystagmus, Moderate-severe sensorineural hearing loss, global cerebellar hypoplasia with enlarged interfolial spaces on brain MRI Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Enza Maria Valente Database submission license No license selected Created by Enza Maria Valente Date created 2018-07-20 13:04:31 +02:00 (CEST) Date last edited 2018-07-25 10:04:00 +02:00 (CEST)

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