Global Variome shared LOVD

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Phenotype #0000356525 Individual ID 00471716 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., pregnancy recurrent vaginal bleeding treated with progestrone; birth at term; neonatal period normal; birth length P70, weight 3400g (P43, -1.8 SD), OFC P50; length P14, weight P57, OFC P70; global developmental delay; delayed speech development; delayed motor development; severe intellectual disability; no developmental regression ; no microcephaly; behavioral abnormalities; autism; 6y-no speech; no seizure; -; 1yMRI brain normal; normal coordination; normal muscle tone; large pinnae; helical defomities; depressed nasal bridge; small jaw; short forehead; life-long constipation, mild esophagitis due to reflux; unilateral hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology Inheritance Isolated (sporadic) Age/Examination 8y (8 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 2026-01-03 11:36:42 +01:00 (CET) Date last edited N/A

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