Global Variome shared LOVD

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

Phenotype #0000359685 Individual ID 00474892 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; floppy, generalised hypotonia; seizures; MRI brain crowded posterior fossa with enlarged cerebellum, thick vermis with low-lying tonsils just above foramen magnum, thick brainstem, normal corpus callosum; severe global developmental delay (babbling, mama dada but not consistent, non ambulatory); sleep disturbance; esophoria; no hearing loss; carious teeth; no cardiac problems; no respiratory problems; chronic constipation, gastro-oesophageal reflux; cryptorchidism; no hematologic problems; VitaminD deficiency; dislocated hip; no immunological problems; normal skin; long palpebral fissures, dimple lower lip, philtral pillars prominent; tapered digits, hypermobile joints, single palmar crease bilaterally, persistent fetal finger pads, broad small feet Inheritance Isolated (sporadic) Age/Examination 16y (16 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.