Global Variome shared LOVD

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

Phenotype #0000242943 Individual ID 00324401 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details see paper; ..., typical facial features, microcephaly, wide nasal bridge; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; feeding difficulties; skin changes (hemangioma; marble/dry skin); no antibody deficiency; genitourinary tract anomalies; no structural brain anomalies Inheritance Isolated (sporadic) Age/Examination 00y18m (18 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-12-11 14:09:13 +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.