Global Variome shared LOVD

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Phenotype #0000335914 Individual ID 00446712 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite GDACCF Phenotype details see paper; ..., birth 38w; no respiratory distress; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; infancy hypotonia; recurrent infections infancy; no renal anomalies; no cardiac defect; no sketelal anomalies; bilateral 5th finger clinodactyly; no corpus callosum agenesis/hypoplasia; generalized seizures, multifocal epilepsy; delayed motor development, 18m-walk; moderate intellectual disability; severe speech delay, speaks only a few words; ASD, ADHD, self-harm, stereotypic hand movements; no ophthalmological problems; no hearing problems; uplslanted eyes, mildly narrow; long, triangular face; broad chin, squared; nose broad nasal base; protruding tongue, open mouth, thick lips; prominent upper central incisors, high palate, malocclusion; normal ears; no hair/skin/nail anomalies; no haematological problems Inheritance Isolated (sporadic) Age/Examination 12y (12 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 2024-01-22 13:14:03 +01:00 (CET) Date last edited N/A

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