Global Variome shared LOVD

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

Phenotype #0000038747 Individual ID 00052128 Associated disease KLEFS Intellectual_dis yes Diagnosis/Initial - Phenotype details 9q subtelomeric deletion syndrome; weight 99.6th, height 98th, OFC 16th; childhood hypotonia, facial dysmorphism; innocent murmur, complex partial seizures, inguinal and umbilical hernia, MRI-increased csf spaces over frontal lobes and sylvian fissures compatible with atrophy; hyperactive, aggressive outbursts, temper tantrums, disturbed sleep pattern, autistic traits, hand flapping; delayed, sit-11m, walk2.5y; speech many single words, some phrases, short sentences Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details weight 3650 (50-75th) Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-10-16 14:54:29 +02:00 (CEST) Date last edited N/A

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