Global Variome shared LOVD

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Phenotype #0000356535 Individual ID 00471726 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth restriction, reduced fetal movements; birth 38+5w; neonatal hypoglycemia that resolved with formula; birth length 48cm (P5, -1.6 SD), weight 2438g (P1, -2.3 SD); length 102.25cm (<P1, -2.5 SD), weight 14.7kg (<P1, -2.9 SD), OFC 49.5cm (P7, -1.5 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; no microcephaly; behavioral concerns and delayed processing; <7m-sit; 18/19m-walk; 18m-first words; no seizure; hypotonia; bilateral epicanthus, upslanted palpebral fissures, protruding ears; normal cranial morphology; history of constipation; pes planus and increase in flexibility bilateral ankles; delayed bone age of 1 year with SD of 2.7 months and chronological age of 1 year 5 months Inheritance Isolated (sporadic) Age/Examination 5y11m (5 years, 11 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 2026-01-03 11:36:42 +01:00 (CET) Date last edited N/A

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