Global Variome shared LOVD

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Phenotype #0000359922 Individual ID 00475209 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder, joint hypermobility Diagnosis/Definite - Phenotype details see paper; ..., prenatal unremarkable; failure to thrive; motor delay; hypotonia (infancy); crawling on hands at 23 months; speech delay; intellectual disabilit; hypotonia; seizures, resolved; joint hypermobility; no limb contractures; skin laxity; mild scoliosis; blue sclera; deep-set eyes, subtle strabismus, hypotelorism, prominent forehead, depressed nasal bridge, smooth philtrum; echo mild mitral regurgitation; MRI brain plagiocephaly and mild ventricular dilatation; mild strabismus, bronchial asthma, mild-moderate dysphagia Inheritance Familial, autosomal recessive Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-04-04 15:14:06 +02:00 (CEST) Date last edited N/A

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