Global Variome shared LOVD

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Phenotype #0000335915 Individual ID 00446713 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite GDACCF Phenotype details see paper; ..., birth 40w; no respiratory distress; no feeding difficulty, no failure to thrive; no spasticity extremities; hypotonia; no recurrent infections; no renal anomalies; no cardiac defect; no sketelal anomalies; no limb malformation; corpus callosum hypoplasia; no seizures, EEG normal; delayed motor development; moderate intellectual disability, institution bound; speech delay, speaks in words /short sentences; aggression, tantrums, ASD, shyness, attention deficit; mild myopia; no hearing problems; no altered sensation pain/heat/smell/touch; downslanted palpebral fissures, arched eyebrows, fullness of the upper eyelid; brachy-turricephaly; broad chin, retracted; nose broad nasal base; highly arched palate, thin upper and full lower lip; no dental anomalies; ears low-set, thin; bitemporal receding hairline, low posterior hairline; slight polycythaemia, mildly increased ferritin; normal genitals Inheritance Unknown Age/Examination 29y (29 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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