Global Variome shared LOVD

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Phenotype #0000281782 Individual ID 00388189 Associated disease DD Phenotype details developmental delay, mild to moderate ID, autism spectrum disorder, microcephaly, radio-ulnar synostosis, dysmorphic features including triangular facies and mid-face hypoplasia Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Alexander Groffen Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Alexander Groffen Date created 2021-11-02 16:27:05 +01:00 (CET) Date last edited N/A

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