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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