Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000335916 Individual ID 00446714 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite GDACCF Phenotype details see paper; ..., birth 38w; no respiratory distress; polyhydramnios; eeding difficulty, gastrostomy tube; no spasticity extremities; hypotonia; no recurrent infections; no renal anomalies; no cardiac defect; no sketelal anomalies; no limb malformation; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; delayed motor development, 22m-walk; moderate intellectual disability, institution bound; speech delay, speaks in words/short sentences; sleep distubance, shyness, attention deficit; astigmatism; no hearing problems; no altered sensation pain/heat/smell/touch; almond shape fissures, arched eyebrows; normal shape face; large bifid chin; nose long columella, small alae nasi, mildly broad nasal base; highly arched palate, thin upper, full lower lip; no dental anomalies; normal ears; light, sparse and slow growing hair, fragile nails; no haematological problems; normal genitals Inheritance Isolated (sporadic) Age/Examination 16y4m (16 years, 4 months) 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.