Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000242284 Individual ID 00320233 Associated disease - Phenotype details Opisthotonus (HP:0002179), motor delay (HP:0001270), inspiratory stridor (HP:0005348), nystagmus (HP:0000639), tremor (HP:0001337), peripheral axonal neuropathy (HP:0003477), areflexia (HP:0001284), generalized muscle weakness (HP:0003324) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Le Guo Database submission license No license selected Created by Le Guo Date created 2020-11-24 22:52:25 +01:00 (CET) Date last edited 2020-11-25 09:31:57 +01:00 (CET)

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