Global Variome shared LOVD

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Phenotype #0000350135 Individual ID 00464073 Associated disease OCNDS Diagnosis/Initial Okur-Chung syndrome Diagnosis/Definite OCNDS Phenotype details see paper; ..., 40w+6 birth, birth weight 2740 g, length 47.5 cm, OFC 33.0 cm; delayed developmental milestones, 4m-head control, 12m-sit; 1y4m-hypotonia, decreased muscle bulk, non-verbal, MRI brain reduced anterior pituitary gland/delayed myelination; 2y-10m-distinct facial features, synophrys, hypertrichosis, down-slanting palpebral fissures, bulbous nose; severe growth retardation, relative macrocephaly, friendly, hyperactive behavior, intellectual disability Inheritance Isolated (sporadic) Age/Examination 08y04m (8 years, 4 months) 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 2025-02-21 11:31:43 +01:00 (CET) Date last edited N/A

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