Global Variome shared LOVD

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Phenotype #0000304470 Individual ID 00412468 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite ODLURO Phenotype details macrocephaly (infancy), OFC Z+1.8; no dolichocephaly; large forehead; no epicanthal folds; deep-set eyes; no prominent nasolabial folds; full cheeks; no small ears; no finger/toe clinodactyly; developmental motor delay; developmental speech delay; no developmental regression; intellectual disability, VIQ:71, PIQ:63; no autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; no muscular hypotonia; no ADHD; no stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; no corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; cerebral cysts; no delayed myelination; no constipation; no gastroesophageal reflux; no vomiting; everted lower lip, low-hanging columella, pervasive developmental disorder Inheritance Isolated (sporadic) Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-06-29 09:24:48 +02:00 (CEST) Date last edited N/A

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