Global Variome shared LOVD

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

Phenotype #0000307765 Individual ID 00415999 Associated disease CMS11 Phenotype details HP:0000431 Wide nasal bridge HP:0001252 Hypotonia HP:0000508 Ptosis HP:0000276 Long face HP:0000218 High palate HP:0001558 Decreased fetal movement HP:0001324 Muscle weakness retraction of Achilles positive response to pyridostigmine Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite CMS11 (#616326) Age/Examination 04y04m (4 years, 4 months) Age/Diagnosis 04y04m Age/Onset - Phenotype/Onset - Protein - Owner name María Eugenia Foncuberta Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by María Eugenia Foncuberta Date created 2022-08-19 21:19:18 +02:00 (CEST) Date last edited 2022-08-21 13:44:03 +02:00 (CEST)

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