Global Variome shared LOVD

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

Phenotype #0000087505 Individual ID 00111419 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Feeding difficulties, hypotonia, epilepsy, severe ID, no active speech, kyphoscoliosis, constipation, autism, short stature; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Bernt Popp Database submission license No license selected Created by Bernt Popp Date created 2017-08-03 10:37:43 +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.