Global Variome shared LOVD

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

Phenotype #0000299041 Individual ID 00406566 Associated disease RRS Phenotype details height 77.5 cm (<3rd centile), weight 9600 g (<3rd centile), OFC 44 cm (<3rd centile); hypertelorism, depressed nasal root, epicanthal folds, short nose, anteverted nares, long philtrum, downturned corners mouth, enamel dysplasia, short forearms, hypoplastic toe nails; short radius, short ulna, rib fusions, thoracic vertebral anomalies; normal renal ultrasound, ECG normal Diagnosis/Initial Robinow syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite RRS1 Age/Examination 03y (3 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 2022-04-01 14:10:56 +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.