Global Variome shared LOVD

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

Phenotype #0000037291 Individual ID 00050679 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details broad lateral eyebrow, deeply set eye, upslanted palpebral fissure, epicanthus, wide nose, downturned corners of mouth, thick lower lip vermilion, abnormality of tear glands or tear production, drooling, high palate, hyperpigmentation of the skin, inverted nipples, increased body weight, short tapering fingers, impaired pain sensation, global developmental delay Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - 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 2015-09-27 16:16:40 +02:00 (CEST) Date last edited N/A

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