Global Variome shared LOVD

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

Phenotype #0000139683 Individual ID 00174858 Associated disease PSS Phenotype details intellectual disability, facial dysmorphism, narrow nose, downturned mouth, large ears, brachycephaly, microcephaly, myopia, strabismus, heart defect, hypotonia, small hands and feet, digitalized thumbs, retinal dystrophy; no multiple exostoses, no parietal foramina, no tapering fingers Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 05y (5 years) 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 2018-08-13 15:46:26 +02:00 (CEST) Date last edited 2018-08-13 21:11:22 +02:00 (CEST)

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