Global Variome shared LOVD

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

Phenotype #0000228804 Individual ID 00301706 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details intractable epilepsy, infantile spasm, laryngomalacia, hypotonia, brain atrophy, developmental delay and GERD and she is on NGT feeding. She cannot support and is dysmorphic (hairy forehead, short philtrum, low set ears, micrognathia) and has strabismus. The parents are first cousin once removed. They have another similarly affected daughter (6 months old). Inheritance Familial, autosomal recessive Age/Examination 2y4m (2 years, 4 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 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

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