Global Variome shared LOVD

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

Phenotype #0000292649 Individual ID 00399544 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no macrocephaly; micro/retrognathia; dysmorphic features; tongue hamartoma; MRI brain 26 2/7gw-no polymicrogyria, heterotopia, ventriculomegaly, partial agenesis corpus callosum, hypothalamic hamartoma, no interhemispheric cysts, no cavum vergae, brainstem hypoplasia (z-shaped), cerebellar hypoplasia, vermis hypoplasia Inheritance Familial, autosomal recessive Age/Examination <1d 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

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