Global Variome shared LOVD

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

Phenotype #0000331330 Individual ID 00441947 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details see paper; ..., high forehead, bitemporal narrowing, coarse features, telecanthus, blue sclerae, prominent nasal bridge, low set ears, long philtrum; severe global developmental delay; hypotonia, attention deficit, dysarthria, clumsy/ataxic gait; slight prominence to the supratentorial ventricular system with increased T2 hyperintensity returned from the bilateral posterior centra semiovale, cavum septum pellucidum; atrial septal defect; no respiratory problems; feeding difficulties; delayed bone age, scoliosis, pectus carinatum; esotropia, telecanthus, blueish sclerae; dental caries Inheritance Familial, autosomal recessive Age/Examination 7y (7 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 2023-11-16 13:17:26 +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.