Global Variome shared LOVD

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Phenotype #0000338844 Individual ID 00449670 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., developmental delay; no intellectual disability; hypotonia and/or muscle weakness; no other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (,ankyloglossia); endocrine features; no respiratory features; no ophthalmologic features; no cardiac features; no gastrointestinal features Inheritance Isolated (sporadic) Age/Examination 1y11m (1 year, 11 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-04-29 17:32:11 +02:00 (CEST) Date last edited N/A

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