Global Variome shared LOVD

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Phenotype #0000323879 Individual ID 00433358 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details primary microcephaly, short stature, spastic quadriparesia; birth OFC (SD-4.5), weigth (SD-2), length (SD-3); OFC (SD-11), weigth (SD-5), length (SD-5); no epilepsy; DQ30 (dvpmt age 6m at age 1y9m), no speech; MRI micro‐lissencephaly, agenesis corpus callosum; birth OFC (SD-4.5), weigth (SD-2), length (SD-3); OFC (SD-11), weigth (SD-5), length (SD-5); no epilepsy; DQ30 (dvpmt age 6m at age 1y9m), no speech; MRI micro‐lissencephaly, agenesis corpus callosum Inheritance Familial, autosomal recessive Age/Examination 5y (5 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 2023-03-06 14:23:39 +01:00 (CET) Date last edited N/A

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