Global Variome shared LOVD

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Phenotype #0000233304 Individual ID 00307879 Associated disease CLN7 Phenotype details Hypertelorism, Delayed speech and language development, Global developmental delay, Cerebellar atrophy, Cerebral atrophy, Unsteady gait, Abnormality of the cerebral white matter, Lower limb muscle weakness, Abnormal thalamic MRI signal intensity Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 04y08m Age/Onset 03y06m Phenotype/Onset - Protein - Owner name Corina-Marcela Rus Database submission license No license selected Created by Corina-Marcela Rus Date created 2020-08-20 02:59:58 +02:00 (CEST) Date last edited 2020-08-23 15:26:44 +02:00 (CEST)

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