Global Variome shared LOVD

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

Phenotype #0000325757 Individual ID 00435570 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., no complications pregnancy/delivery; birth 37w; language/speech delay; no motor delay, 14m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; joint hypermobility; no syndactyly; vertebral abnormalities; pes planus, palmar hyperlinearity; no pectus excavatum; mylagia, fatigability, swallowing difficulties; high forehead, micrognathism; no lip/cleft palate; hypermetropia; no strabismus; photophobia; normal hearing; recurrent ear infections; congenital heart disease (bicuspid aortic valve); no neonatal feeding difficulties; no gastroesophageal reflux; constipation; skin hyperlaxity; no genitourinary abnormalities; large stretch marks Inheritance Unknown Age/Examination 30y (30 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 2023-08-03 13:47:25 +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.