Global Variome shared LOVD

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Phenotype #0000270395 Individual ID 00375185 Associated disease MEOAL;MMDS8 Phenotype details see paper; ..., reluctance to stand and walk unsupported, speech acquisition delay; no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; ophthalomology normal; tightness Achilles tendons; raised CK (5420 IU/L; 3y6m-MRI hypoplasia cerebellar vermis and hemispheres Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite MMYAT Age/Examination 03y06m (3 years, 6 months) Age/Diagnosis - Age/Onset 01y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-28 19:41:07 +02:00 (CEST) Date last edited 2021-05-28 21:17:11 +02:00 (CEST)

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