Global Variome shared LOVD

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Phenotype #0000359931 Individual ID 00475218 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder, joint hypermobility Diagnosis/Definite - Phenotype details see paper; ..., prenatal unremarkable; failure to thrive; motor delay; hypotonia (infancy); 24m-sit; 2y6m-walk; speech delay; intellectual disabilit; hyperactivity, hypotonia, poor social skills, poor interactions on neurological evaluation, attention deficit hyperactive disorder; hypotonia; febrile seizures; joint hypermobility; no limb contractures; skin laxity; upslanting palpebral fissures, bilateral 5th finger clinodactyly, flat feet, genu recurvatum, hemangioma on right upper quadrant abdomen, features suggestive of connective tissue disorder; 7m-MRI brain unremarkable; sleep apnea, gastroesophageal reflux (G-tube) Inheritance Familial, autosomal recessive Age/Examination 6y (6 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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