Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000238630 Individual ID 00314872 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Global developmental delays with no speech, gastroschisis, neonatal sigmoid venous sinus thrombosis, aqueductal stenosis causing hydrocephalus and shunt placement, abnormal optic nerves, hypopituitarism, myopia, femoral retroversion, behavior problems, dysmorphic. Inheritance Unknown Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset 1d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-20 15:09:17 +02:00 (CEST) Date last edited N/A

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