Global Variome shared LOVD

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

Phenotype #0000236635 Individual ID 00311388 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight normal, length normal; normal height, normal weight, OFC 2.7; developmental delay/intellectual disability, IQ97; gross motor delay, fine motor delay; speech delay; autism, attention deficit hyperactivity disorder, oppositional defiant disorder; hypotonia; sleep problems; no hearing loss; normal vision; small joint hypermobility; strawberry hemangioma on right knee (now resolved); mild facial asymmetry, normal forehead, slightly downslanting palpebral fissures, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; mother, maternal aunt and maternal grandmother have short stature, ophthalmoplegia, diabetes, sensorineural hearing loss, learning problems, mother has seizures, maternal aternal uncle with hydrocephalus, sister with ID and hypotonia, paternal half-sister with ADHD Inheritance Familial, autosomal dominant Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-24 16:15:46 +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.