Global Variome shared LOVD

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Phenotype #0000334421 Individual ID 00445167 Associated disease NEDCAS Diagnosis/Initial - Diagnosis/Definite - Phenotype details Abnormality of the hip-girdle musculature, Abnormality of the musculature of the lower limbs, Delayed speech and language development, Myopia, Microcephaly, Drooling, Thin upper lip vermilion, Abnormality of dental morphology Inheritance Familial, autosomal recessive Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-01-05 12:01:33 +01:00 (CET) Date last edited 2024-01-20 15:02:31 +01:00 (CET)

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