Global Variome shared LOVD

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Phenotype #0000323888 Individual ID 00433367 Associated disease microcephaly Diagnosis/Initial primary microcephaly Diagnosis/Definite - Phenotype details severe primary microcephaly, hearing deficiency; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal; birth OFC (SD-3.5), weigth (SD-3), length (SD-4); OFC (SD-6), weigth median, length (SD-3); adolescence-generalized, tonic‐clonic, seizures and absences, treatment TPM and OXC; no intellectual disability; MRI normal Inheritance Familial, autosomal recessive Age/Examination 28y (28 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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