Global Variome shared LOVD

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

Phenotype #0000335921 Individual ID 00446719 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite GDACCF Phenotype details see paper; ..., no respiratory distress; no feeding difficulty, no failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; mild camptodactyly of fingers; no seizures, EEG normal; no delayed motor development; learning difficulty; mild speech delay; mild behavioural problems, shyness; ophthalmological problems; no hearing problems; no altered sensation pain/heat/smell/touch; hypertelorism, vertically narrow palpebral fissures; normal shape face; broad, square chin; nose broad nasal base, anteverted nares, mildly hypoplastic alae nasi; long and smooth philtrum, open mouth, thick lower lip; no dental anomalies; ears small; no hair/skin/nail anomalies Inheritance Unknown Age/Examination 43y (43 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

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