Global Variome shared LOVD

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

Phenotype #0000346987 Individual ID 00458556 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDHBA Phenotype details see paper; ..., pregnancy unremarkable, birth-40w, weight 2.26kg (4th), OFC 34cm (50th); height 97cm (2nd), weight 15kg (2nd), OFC 47cm (-2, below 15th); mild-moderate global developmental delay, mild-moderate intellectual disability; no developmental regression; 2y-walk; current normal gross motor skills; ataxia; 1.5y-first speech, 3 words sentences; normal vision, no hearing loss; dysarthria; no dysmorphic features; mild cerebellar ataxia; central tone mild hypotonia; peripheral tone no hypotonia; no muscle atrophy; normal deep tendon reflexes; normal plantar response; no seizures; sudden attack unawareness for 24h, in PICU 48h; no Bruxism, tempered tantrum, aggressiveness, no stereotypy; MRI 1m/1y5m-bilateral incomplete hippocampal rotation, thin corpus callosum, slightly delayed myelination, choroidal plexus cysts left lateral ventricle/right temporal horn Inheritance Familial, autosomal recessive Age/Examination 5y (5 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

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.