Global Variome shared LOVD

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Phenotype #0000280736 Individual ID 00386937 Associated disease MRD26 Phenotype details microcephaly, feeding difficulties, intellectual disability / developmental delay, autism,generalized hypotonia, highly arched eyebrows, short palpebral fissures, epicathal fold, deep/broad nasal bridge, short/upturned philtrum, narrow mouth Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 01y07m (1 year, 7 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 16:06:37 +02:00 (CEST) Date last edited N/A

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