Global Variome shared LOVD

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

Phenotype #0000207794 Individual ID 00271178 Associated disease TAM1 Phenotype details Lower limb muscle weakness, cramps, eye movement defects, contractures, asplenia, short stature, hypocalcemia, anemia, tooth enamel hypocalcification, Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <10y Phenotype/Onset - Protein - Owner name Johann Böhm Database submission license No license selected Created by Johann Böhm Date created 2019-12-13 16:29:49 +01:00 (CET) Date last edited N/A

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