Global Variome shared LOVD

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Phenotype #0000346989 Individual ID 00458558 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDHBA Phenotype details see paper; ..., birth at term, weight 2.7kg (17th), OFC 34cm (50th); height 49cm, weight 13kg (below 0.1th), OFC 44cm (0.1th); failure to thrive; moderate global developmental delay, moderate intellectual disability; no developmental regression; crawl, not walking; delayed speech, 5 words; normal vision, no hearing loss; dysarthria; dysmorphic features, prognathism, deep set eyes, high arch palate; central tone hypotonia; peripheral tone mild-moderate hypotonia; brisk deep tendon reflexes; equivocal plantar response; no seizures; bruxism, temper (tantrum), axial dystonia; stereotypy, agitation, tempered tantrum, poor communication, no eye contact; MRI 7m-bilateral incomplete hippocampal rotation, white matter volume reduction with posterior lateral ventricles dilatation but small frontal horns (especially left), thin corpus callosum, slightly delayed myelination, left cerebellar arachnoid cyst, enlarged fronto-temporal cerebrospinal fluid spaces Inheritance Familial, autosomal recessive Age/Examination 7y (7 years) 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 2024-12-18 16:32:47 +01:00 (CET) Date last edited N/A

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