Global Variome shared LOVD

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

Phenotype #0000051232 Individual ID 00065127 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details seizures (HP:0001250), vomiting (HP:0002013), lowering of consciousness (HP:0004372), eye deviation to the right side (HP:?), tonic-clonic seizures (HP:0002069), no dysmorphism (-HP:0001999), no hepatosplenomegaly (-HP:0001433), psychomotor developmental delay (HP:0001263), autistic features (HP:0001263), poor appetite (HP:0004396); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); no speech (HP:0001344) Age/Examination - Age/Diagnosis - Age/Onset 00y08m Phenotype/Onset Intrauterine growth retardation (HP:0001511) Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-19 13:27:31 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.