Global Variome shared LOVD

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

Phenotype #0000345817 Individual ID 00457354 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDLBF Phenotype details see paper; ..., birth 32w+6; prenatal IUGR, premature, anhydramnios after AROM with CAF; Infant feeding difficulties; failure to thrive; speech problems, 60 words in vocabulary; motor delay; speech regression; anxiety; trichotillomania; no macrocephaly; -(10th centile); MRI brain normal; EEG brain generalized high amplitude spikes, poly spike, slow wave discharges, bilateral OIRDA; convulsive seizure with flu; symptomatic generalized epilepsy, non-convulsive absence seizures; hyporeflexia; short stature; hypotonia; medial eyebrow flare, hypertelorism, wide nasal root, depressed nasal tip, high broad forehead; cutis marmorata Inheritance Isolated (sporadic) Age/Examination 6y (6 years) Age/Diagnosis 6y 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 2024-11-08 11:01:45 +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.