Global Variome shared LOVD

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Phenotype #0000357123 Individual ID 00472320 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDDFAC Phenotype details see paper; birth 35w; weight 12.5kg (SD+0.89), height 84cm (SD+1.32), OFC 49cm (SD+1.26); gross motor delay, not yet walking; speech delay, no words; developmental delay; 16m-epilepsy (generalized tonic clonic, tonic, myoclonic), Lennox-Gastaut syndrome, EEG abnormal; autism traits (ASD); hypotonia; involuntary movements, spasms; no sleep disturbance; ocular issues (CVI); no hearing loss; no feeding issues, no swallowing issues; bilateral hydronephrosis with intact corticomedullary differentiation; no congenital heart defects; no endocrine issues; no scoliosis; bitemporal narrowing, tall forehead, cleft chin; normal ears; normal eyes; short upturned nose, narrow angle between philtrum grooves, hypoplastic columella, high arched palate; tapered fingers and 2nd toes overlapping his 3rd toes bilaterally Inheritance Isolated (sporadic) Age/Examination 1.66y 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 2026-02-03 11:21:20 +01:00 (CET) Date last edited N/A

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