Global Variome shared LOVD

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

Phenotype #0000242345 Individual ID 00320332 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details pregnancy high serum markers, normal foetal karyotype; no neonatal features; birth 36w, weight –1SD, length +0.5SD; length -4.5SD, BMI 25 (80th); severe developmental delay/intellectual disability; not walking; no speech; 7m-epilepsy; 7m-psychomotor regression; hypotonia; no behavioural issues; MRI brain normal; widely spaced eyes; bifid nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; hip dislocation; no genu valgum; no club feet; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; aortic insufficiency, body asymmetry; no recurrent infections Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-27 13:30:34 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.