Global Variome shared LOVD

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

Phenotype #0000139684 Individual ID 00174859 Associated disease PSS Phenotype details intellectual disability, facial dysmorphism, narrow nose, downturned mouth, brachycephaly, microcephaly, myopia, hypotonia; no large ears, no strabismus,no heart defect, no small hands and feet, no multiple exostoses, no parietal foramina, no tapering fingers, no digitalized thumbs, no retinal dystrophy Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 42y (42 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 16:21:45 +02:00 (CEST) Date last edited 2018-08-13 21:12:45 +02:00 (CEST)

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