Global Variome shared LOVD

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Phenotype #0000357245 Individual ID 00472435 Associated disease ARTS;MRXS18 Phenotype details Global developmental delay, Hearing impairment, Motor delay, Intellectual disability, Sensorineural hearing impairment, Hypotonia, Joint hypermobility, Unsteady gait, Nystagmus, Premature birth, Absent speech, Atypical behavior, Postural instability, Broad-based gait, Abnormal optic nerve morphology, Microcephaly Diagnosis/Initial - Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2026-02-13 14:27:51 +01:00 (CET) Date last edited 2026-04-04 16:33:45 +02:00 (CEST)

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