Global Variome shared LOVD

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Phenotype #0000084333 Individual ID 00106520 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly, Brain MRI: bilateral nonspecific multifocal white matter lesions; Prominent nose, Ocular hypertelorism, epicantal folds, up-slanting palpebral fissures, Advanced bone age; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) Age/Examination 10y00m (10 years) 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 21:35:38 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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