Global Variome shared LOVD

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Phenotype #0000308056 Individual ID 00416289 Associated disease CHUJANS Diagnosis/Initial - Diagnosis/Definite - Phenotype details Facial hypotonia, Oral motor hypotonia, Hypomimic face, Neurodevelopmental delay, Global developmental delay, Attention deficit hyperactivity disorder, Hypoplasia of the musculature, Exercise-induced muscle fatigue, Intellectual disability, profound, Delayed speech and language development, Gait disturbance, Intention tremor, Pica, Tapering pointed ends of distal finger phalanges, Clinodactyly, High palate, Hypodontia, Downslanted palpebral fissures, Single transverse palmar crease, Micrognathia, Hyporeflexia, Poor gross motor coordination Inheritance Unknown Age/Examination 08y (8 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 2022-08-26 10:55:52 +02:00 (CEST) Date last edited 2022-08-26 11:11:39 +02:00 (CEST)

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