Global Variome shared LOVD

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Phenotype #0000350100 Individual ID 00464039 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ... 35w-birth weight 1796 g (3-10%), length 44cm (3-10%), OFC 29 cm (<3%); 3y-OFC 46.4 cm (<3%); intellectual disability; developmental delay; 15m-sit; 28m-walk; after 2y-speech 200 words, short sentences; hypotonia, tantrums, attention deficit/hyperactivity disorder features, ataxia; MRI brain pachygria, microcephaly; hypertelorism, low set folded ears, high palate, micrognathia, ptosis, high arched eyebrows, 5th finger clinodactyly, brachydactyly, unilateral single palmar crease; no musculo-skeletal anomalies; no gastrointestinal issues; no immunologic anomalies; birth umbilical hernia; palmar erythema, cutis marmorata Inheritance Isolated (sporadic) Age/Examination 6y (6 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 2025-02-14 17:50:49 +01:00 (CET) Date last edited N/A

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