Global Variome shared LOVD

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Phenotype #0000357129 Individual ID 00472326 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDDFAC Phenotype details see paper; birth 40w; weight 21.3kg (SD-0.74), height 110cm (SD-2.4), OFC 50.5cm (SD-0.77); severe gross motor delay, 5y-walk; severe speech delay; severe developmental delay; severe intellectual disability; no epilepsy; no autism; no behavioral issues; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 6.8y-MRI brain hypoplastic corpus callosum; constipation; no congenital heart defects; short stature, IGF-1 deficiency; scoliosis; bitemporal narrowing scaphocephaly, pointy chin; normal ears; lateral eyebrow thinning; wide nasal bridge, cleft palate, thin upper vermilion; 3/4/5 metacarpal shortening; mild lipid storage on muscle biopsy Inheritance Isolated (sporadic) Age/Examination 6.8y 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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