Global Variome shared LOVD

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Phenotype #0000292652 Individual ID 00399547 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details no macrocephaly; micro/retrognathia; dysmorphic features; no tongue hamartoma; congenital slightly enlarged tongue, joint abnormalities, phimosis; intellectual disability; motor impairment; language impairment; poor social interaction; MRI brain 1m-polymicrogyria, no heterotopia , no ventriculomegaly , callosal anomalies (thin), no hypothalamic hamartoma, no interhemispheric cysts, cavum vergae, no brainstem hypoplasia, no cerebellar hypoplasia, no vermis hypoplasia Inheritance Familial, autosomal recessive Age/Examination 4y (4 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

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