Global Variome shared LOVD

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Phenotype #0000119260 Individual ID 00146519 Associated disease RD Diagnosis/Initial - Diagnosis/Definite - Phenotype details IUGR, decreased fetal movements, polyhydramnios; delivery 32w-hypertelorism, down-slanting palpebral fissures, pinched nose, posterior rotated ears, micrognathia, O-position mouth, thin/rigid skin with erosions and scaling, prominent superficial vessels, multiple joints contractures, camptodactyly, absent and small nails, rocker-bottom feet, narrow chest Inheritance Isolated (sporadic) Age/Examination - 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 2009-05-25 22:07:33 +02:00 (CEST) Date last edited 2012-03-04 16:42:44 +01:00 (CET)

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