Global Variome shared LOVD

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Phenotype #0000335913 Individual ID 00446711 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite GDACCF Phenotype details see paper; ..., birth shortly before term; no respiratory distress; no fetal hydrops/edema; feeding difficulty, failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; no sketelal anomalies; 5th finger clinodactyly; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; no delayed motor development; mild intellectual disability; speech delay; ADHD, ASD; no ophthalmological problems; no hearing problems; mild vertically narrowing eyes, mild upslant, fullness middle third upper eyelids; mild maxillary hypoplasia; broad chin, almost bifid; prominent nose, high and narrow nasal bridge, broad nasal base; thin upper lip, full lower lip, malocclusion; crowded teeth; ears thick helix, prominent crus helix and antihelix; high anterior hairline Inheritance Familial, autosomal dominant Age/Examination - 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 2024-01-22 13:14:03 +01:00 (CET) Date last edited N/A

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