Global Variome shared LOVD

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

Phenotype #0000236637 Individual ID 00311390 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight normal, length normal, OFC normal; normal height, normal weight, OFC -1; developmental delay/intellectual disability, TIQ63 (VIQ70, PIQ61); gross motor delay, fine motor delay, walk-16m; speech delay, 1y-first words; autistic features, attention deficit hyperactivity disorder; no hypotonia; no sleep problems; no hearing loss; normal vision; Sprengel anomaly; normal skin; normal face, normal forehead, deep set eyes, normal ears, normal nose, normal mouth; no gastrointestinal problems; MRI brain normal; ECG normal; SCAD deficiency Inheritance Isolated (sporadic) Age/Examination 12y (12 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.