Global Variome shared LOVD

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

Phenotype #0000155170 Individual ID 00207399 Associated disease HPMRS4;GPIBD10 Phenotype details Severe psychomotor delay, ID, delay speech, behaviour difficulties, facial dysmorphism, muscular hypotonia, MRI abnormalities (Dandy walker malformation), skeletal abnormalities (pectus excavatum, bilateral coxa valga), Otological abnormalities (mild hearing loss), cleft palate, High ALP levels (883.2 U/L) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2018-11-20 21:07:14 +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.