Global Variome shared LOVD

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Phenotype #0000346999 Individual ID 00458568 Associated disease NDD Diagnosis/Initial global developmental delay Diagnosis/Definite NEDGFC Phenotype details see paper; ..., neonatal feeding problems, hypotonia; birth weight (-5.1); global developmental delay, moderate-severe motor delay, moderate-severe intellectual disability, 5y-first words, no regression, growth impairment, congenital malformations, cranofacial dysmorphism; atrial septal defect, ventricular septum defect, hypoplastic descending aorta; infancy feeding difficulties; Nissen fundoplication; percutaneous gastrostomy; 9y-absence seizures, knee dislocations Inheritance Familial, autosomal recessive Age/Examination 12y (12 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 2024-12-18 22:03:23 +01:00 (CET) Date last edited N/A

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