Global Variome shared LOVD

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Phenotype #0000280995 Individual ID 00387432 Associated disease MRD26 Phenotype details short stature, microcephaly, intellectual disability/developmental delay, cerebral palsy/spasticity, hypertelorism, epicanthal fold, micro/retrognathia, low set ears, large hands and feet Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 00y11m (11 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 2021-10-29 12:19:35 +02:00 (CEST) Date last edited N/A

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