Global Variome shared LOVD

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

Phenotype #0000333292 Individual ID 00444035 Associated disease LDS5;RNHF Phenotype details Macrocephaly, Tall stature, Pes planus, Delayed fine motor development, Expressive language delay, Cerebral white matter atrophy, Hypertelorism, Increased body weight Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2023-12-11 16:16:50 +01:00 (CET) Date last edited 2023-12-14 09:17:47 +01:00 (CET)

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