Global Variome shared LOVD

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Phenotype #0000333242 Individual ID 00443987 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite - Phenotype details see paper; ..., prenatal intrauterine growth retardation, colpocephaly, ventriculomegaly, agenesis corpus callosum, faciocraniosynostosis; hypertelorism; downward palpebral fissures (slant); depressed nasal bridge (neonatal period); normal mouth, normal oral cavity; low-set ears, auditory canal stenosis; craniosynostosis; exophthalmos, microretrognathia; motor delay; 2y11m-sit; not yet walking; speech delay; no speech yet; intellectual disability; 2y-clinical seizures; EEG normal; hypotonia; cerebral imaging agenesis of the corpus callosum, abnormal cerebral cortical gyration, Chiari malformation; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect; Hirschsprung disease 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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