Global Variome shared LOVD

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

Phenotype #0000333243 Individual ID 00443988 Associated disease NDD Diagnosis/Initial neurodevelopmental syndrome Diagnosis/Definite - Phenotype details see paper; ..., deceased in infancy; hypertelorism; bilateral epicanthal folds; depressed nasal bridge (neonatal period); cleft lip, cleft palate; low-set ears, left earlobe crease; bilateral club foot; no clinical seizures; EEG normal; hypotonia; cerebral imaging abnormal cerebral cortical gyration; multiple ventricular septal defects, cardiac coarctation; clitoris hypertrophy Inheritance Familial, autosomal recessive Age/Examination - 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 2023-12-09 16:29:47 +01:00 (CET) Date last edited N/A

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