Global Variome shared LOVD

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

Phenotype #0000295650 Individual ID 00402899 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details 21m-deceased; intrauterine growth restriction; round facies, infra-lateral periorbital fullness, mild synophrys, deeply grooved philtrum, tented mouth, vaulted palate, micrognathia; severe global developmental delay; normal growth; microcephaly OFC (-2.6 SD); axial and peripheral hypotonia, decreased deep tendon reflexes, laryngomalacia; MRI brain normal; mild hyperopia; mild hearing loss; oxygen supplementation, gastrostomy feeding, severe gastresophageal reflux disease Inheritance Familial, autosomal recessive Age/Examination 21m Age/Diagnosis - Age/Onset 1d 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 2022-02-14 10:40:27 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.