Global Variome shared LOVD

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

Phenotype #0000340198 Individual ID 00451461 Associated disease HHF1 Phenotype details Seizure, chronic constipation, Attention deficit hyperactivity disorder. Secondary finding: Multiple endocrine neoplasia, Type IIA (OMIM: 171400) Diagnosis/Initial Hyperinsulinemic hypoglycemia Inheritance Familial, autosomal dominant Diagnosis/Definite Hyperinsulinemic hypoglycemia, familial, 1 Age/Examination - Age/Diagnosis 21y Age/Onset - Phenotype/Onset - Protein - Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2024-06-06 23:12:25 +02:00 (CEST) Date last edited 2024-06-24 17:04:20 +02:00 (CEST)

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