Global Variome shared LOVD

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

Phenotype #0000292648 Individual ID 00399543 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; mild intellectual disability; motor impairment; language impairment; behavioral problems; poor social interaction; no epilepsy; MRI brain 5y-no polymicrogyria, no heterotopia , no ventriculomegaly , no callosal anomalies , no hypothalamic hamartoma, no interhemispheric cysts, no cavum vergae, no malrotated hippocampus, no brainstem hypoplasia, no cerebellar hypoplasia, vermis hypoplasia Inheritance Familial, autosomal recessive Age/Examination 6y (6 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 2022-01-21 15:59:18 +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.