Global Variome shared LOVD

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Phenotype #0000280735 Individual ID 00386936 Associated disease MRD26 Phenotype details microcephaly, intellectual disability / developmental delay, proptosis, short palpebral fissures, narrow mouth, plachiocephaly, brachycephaly, facial asymmetry, prominent forehead, unilateral cleft lip, patent foramen ovale / atrial septum defect Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 02y04m (2 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Alexander Groffen Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Alexander Groffen Date created 2021-10-27 15:55:19 +02:00 (CEST) Date last edited N/A

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