Global Variome shared LOVD

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

Phenotype #0000236642 Individual ID 00311395 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight normal, length normal; normal height, weight >2SD, OFC 1.35; developmental delay/intellectual disability, WISC: VCI 79, PRI 71, PSI 73; no gross motor delay, fine motor delay, walk-11m; speech delay, 5y-first words; autism, attention deficit hyperactivity disorder; hypotonia; sleep problems latency; no hearing loss; normal vision; broad palms, repair of tibial malformation; normal face, normal forehead, normal eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; renal ultrasound normal; cryptorchidism; mother has learning disability, attention deficit hyperactivity disorder, type 2 diabetes mellitus, scoliosis, migraine; father has social differences, compulsions, anxiety Inheritance Familial, autosomal dominant Age/Examination 14y (14 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.