Global Variome shared LOVD

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Phenotype #0000340346 Individual ID 00451686 Associated disease HVDAS;MRD28 Phenotype details Intellectual disability, Delayed speech and language development, Neurodevelopmental delay, Broad-based gait, Microcephaly Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Birth/Weight - MotorSkills - Speech speech delayed (HP:0000750) Hypotonia ? Protein - Intellectual_dis yes Pupil ? Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2024-06-28 14:44:19 +02:00 (CEST) Date last edited 2024-07-01 21:37:31 +02:00 (CEST)

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