Global Variome shared LOVD

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

Phenotype #0000087963 Individual ID 00112399 Associated disease MMFD Phenotype details height +2.3SD, weight +2.3SD, head circ. +3.3SD, learning disability - severe; Bilateral optic nerve hypoplasia, pulmonary stenosis, mild pectus carinatum, dysmorphism, advanced bone age; overgrowth Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - 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 2008-01-16 17:28:51 +01:00 (CET) Date last edited N/A

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