Global Variome shared LOVD

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Phenotype #0000352882 Individual ID 00467730 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., mild intellectual developmental disorder; 18m-walk; 2.5y-first words; speaks with full sentences with lisp, ask questions, understanding difficulties; no autism spectrum disorder; autistic features in earlychildhood, evolving towards a normalization; no seizures; MRI brain plagiocephaly; plagiocephaly, earlobes upward facing, epicanthic folds, hypertelorism, dental malposition, inverted nipples; short fifht fingers, long toes and short fifht toe nails; postnatal growth retardation; scalp cutis aplasia congenita, cutis marmorata and facial telengiectasia, malposition of permanent teeth 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 2025-10-29 10:02:21 +01:00 (CET) Date last edited N/A

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