Global Variome shared LOVD

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

Phenotype #0000359684 Individual ID 00474891 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite DEDHIL Phenotype details see paper; ..., no prenatal anomalies; generalized severe hypotonia; MRI brain cerebellar hypoplasia, large folia, big cisterna magna; global developmental delay, marked generalized hypotonia, speech only syllabel 4y-walk; no ophthalmologic problems; moderate conductive hearing loss; no cardiac problems; no respiratory problems; constipation; no renal anomalies; no genitourinary problems; no hematologic problems; no endocrine problems; discrete limb length asymetry (left>right); no immunological problems; pigmentary mosaicism, cafe-au-lait spots in patchy pattern without midline separation, hyperpigmentation in Blaschkolinear pattern, naevusflammeus; mild dysmorphic facial -metopic ridge, overfolded helices, epicanthal folds, bulbous nose, uptented upper lip,; finger hyperlaxity and mild proximal rigidity Inheritance Isolated (sporadic) Age/Examination 6y (6 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.