Global Variome shared LOVD

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

Phenotype #0000300199 Individual ID 00408071 Associated disease PHMDS Phenotype details Intellectual disability, Neurodevelopmental delay, Autism, Gait disturbance, Muscular hypotonia, Generalized hypotonia, Behavioral abnormality, Autistic behavior, Localized hirsutism, Short stature, Poor eye contact Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - 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 2022-04-13 14:02:26 +02:00 (CEST) Date last edited 2022-04-14 09:43:15 +02:00 (CEST)

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