Global Variome shared LOVD

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Phenotype #0000356822 Individual ID 00472013 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., brith 40+6; mild developmental delay, 15m-walk, oral disorders; mild-moderate ID; delayed speech, few words; no hypotonia; no seizures; MRI/CT thin callosum corpus,delayed frontal myelination, posterior fossa cyst; stereotypic movements; thin long face, helix crus absent, large lobe, square chin, enophtalmia, hypotelorism, upslanted palpebral fissures; hyperpigmentation shoulder; atrial septal defect with right ventricular dilatation; normal kidneys ultrasound; bilateral talus pes, unilateral cryptorchidism, kyphosis,; congenital obstruction ductus nasolacrimalis Inheritance Isolated (sporadic) Age/Examination 5y (5 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 2026-01-05 12:55:15 +01:00 (CET) Date last edited N/A

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