Global Variome shared LOVD

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Phenotype #0000042702 Individual ID 00056046 Associated disease MPPH1 Phenotype details mild developmental delay particularly involving speech, later diagnosed with Asperger syndrome; 18m-third ventriculostomy for progressive ventriculomegaly (HP:0002119), no seizures; 12.5y MRI-brain striking megalencephaly (HP:0001355), bilateral perisylvian polymicrogyria (HP:0002126), borderline cerebellar tonsillar ectopia, moderately thick corpus callosum, no vascular malformations, no digital anomalies (no polydactyly (-HP:0010442), no syndactyly (-HP:0001159)) Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset ventriculomegaly (HP:0002119) Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-12-08 12:04:36 +01:00 (CET) Date last edited 2015-12-17 11:28:18 +01:00 (CET)

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