Global Variome shared LOVD

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

Phenotype #0000359676 Individual ID 00474883 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; 7y-seizures, academic/intellectual functions deteriorated.; very mild delays in gross motor skills, mild cognitive delays (color naming); 7y-seizures, more learning problems, attentional/cogntiive delays, impaired coordination; no ophthalmologic problems; no hearing loss; no cardiac problems; no respiratory problems; no gastrointestinal problems, no feeding difficulties; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; no musculoskeletal problems; no immunological problems; normal skin; father absence epilepsy childhood, shares duplication listed above; mild facial dysmorphism; normal hands, normal feet Inheritance Isolated (sporadic) Age/Examination 18y (18 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 2026-03-27 14:20:42 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.