Global Variome shared LOVD

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Phenotype #0000333240 Individual ID 00443985 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite - Phenotype details see paper; ..., no prenatal anomalies; hypertelorism; mild upward palpebral fissures (slant); normal mouth, normal oral cavity; protruding ears; thin hair; motor delay; 8m-turning over; 15m-sit; 3y-walk, wide-based gait; speech delay; 3y-first words (few letters); not yet toilet trained; severe intellectual disability (IQ35); autistic features (CARS: 36); nervousness, hyper-activity, aggression; sleep-wake cycle disturbance; no clinical seizures; EEG normal; hypotonia; cerebral imaging hypoplasia of corpus callosum, mild prominent cortical sulci; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect 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 2023-12-09 16:29:47 +01:00 (CET) Date last edited N/A

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