Global Variome shared LOVD

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Phenotype #0000232915 Individual ID 00307109 Associated disease GM1G1 Phenotype details HP:0007256 Abnormal pyramidal sign HP:0002086 Abnormality of the respiratory system HP:0002015 Dysphagia HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002808 Kyphosis HP:0002509 Limb hypertonia HP:0000639 Nystagmus HP:0007153 Progressive extrapyramidal movement disorder HP:0002344 Progressive neurologic deterioration HP:0002650 Scoliosis HP:0001250 Seizures Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 00y09m Age/Onset 00y05m Phenotype/Onset - Protein - Owner name Sarah Snanoudj Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Sarah Snanoudj Date created 2020-07-31 15:20:47 +02:00 (CEST) Date last edited 2020-08-04 21:48:42 +02:00 (CEST)

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