Global Variome shared LOVD

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Phenotype #0000323968 Individual ID 00433511 Associated disease microcephaly Diagnosis/Initial microcephalic intellectual deficit Diagnosis/Definite MCPH5 Phenotype details moderate-severe intellectual disability, congenital microcephaly [OFC 42.5 cm (-7.8 SD), height 182 cm (75-90th percentile); not able to read, able to write name; MRI brain global reduction brain size, thin brain stem, normal corpus callosum, normal temporal pachygiria; cardiac ultrasound mild tricuspid valve insufficiency Inheritance Familial, autosomal recessive Age/Examination 29y (29 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 2023-03-11 14:12:26 +01:00 (CET) Date last edited N/A

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