Global Variome shared LOVD

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Phenotype #0000084339 Individual ID 00106526 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Developmental delay/Intellectual disability, Speech/language delay, Hypotonia, Microcephaly, Bilateral facial paresis, bilateral anotia; absence of external auditory canals bilaterally, complete opacification of both middle ears, Epicanthal folds, up-slanting palpebral fissures, left colobomatous (iris and disk) microphthalmia, slight inferior lens subluxation, astigmatism left, Right thumb and thenar hypoplasia; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) Age/Examination 04y08m (4 years, 8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Bernt Popp Database submission license No license selected Created by Bernt Popp Date created 2017-07-02 23:46:50 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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