Global Variome shared LOVD

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Phenotype #0000155308 Individual ID 00207530 Associated disease MCAHS3;GPIBD7 Phenotype details Multiple malformations, hypotonia, seizure and profound development delay. Dysmorphic features (high forehead, frontal bossing, narrow bitemporal, big eyes with slight orbital depression, esotropia, depressed nasal bridge, long philtrum, high palatine arch, wide and opening mouth, low auricular position). Hypotonia. Lower limb hyperreflexia. Normal ALP level. MRI shows external hydrocephalus, cortical hypoplasia, cerebellar vermis dysplasia. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2018-11-23 19:11:42 +01:00 (CET) Date last edited N/A

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