Global Variome shared LOVD

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

Phenotype #0000236645 Individual ID 00311398 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight normal; normal height, normal weight, OFC 1.37; developmental delay/intellectual disability, WASI-2 - FS IQ 113, verbal comprehension 131; gross motor delay, fine motor delay, walk-12m; speech delay, 2y-first words; no autism, attention deficit hyperactivity disorder, Impulsivity; hypotonia; no sleep problems; conductive no hearing loss; bilateral astigmatism, wears glasses; pes planus, scoliosis, muscle atrophy in legs; normal skin; normal face, tall forehead, deep set eyes, protruding ears with overfolded helix, bulbous nasal tip, low columella, normal mouth; constipation; renal ultrasound normal; recurrent ear infections T&A; no family history Inheritance Isolated (sporadic) Age/Examination 8y (8 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.