Global Variome shared LOVD

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Phenotype #0000333239 Individual ID 00443984 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite - Phenotype details see paper; ..., part of twins, 55d-twin brother deceased (intestinal obstruction); hypertelorism; normal palpebral fissures (slant); depressed nasal bridge; short philtrum, high arched palate; protruding low-set ears; thin hair; motor delay; 8m-turning over; 14m-sit; 4y6m-walk; speech delay; 4y-first words (few words); 8y fairly toilet trained; moderate intellectual disability (IQ40); present (CARS: 35); stereotypy, hyperactivity; sleep-wake cycle disturbance; no clinical seizures; EEG normal; hypotonia in early infancy; cerebral imaging hypoplasia of corpus callosum; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect Inheritance Familial, autosomal recessive Age/Examination 9y (9 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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