Global Variome shared LOVD

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Phenotype #0000256948 Individual ID 00361543 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details syndromic; global developmental delay, CL/P, microcephaly, spasticity, strabismus, microphthalus, dysmorphism, ACC, absence of cingulate gyrus and colpocephaly. Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-07 19:07:03 +02:00 (CEST) Date last edited N/A

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