Phenotype #0000237144

Global Variome shared LOVD

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

Individual ID	00311895
Associated disease	RRS
Phenotype details	hypertelorism; short nose, broad mouth, midface hypoplasia; no mesomelia; cleft palate; camptodactyly, brachydactyly; gingival hyperplasia; oligodontia; bilateral mixed hearing loss; osteosclerosis of skull; osteosclerosis of long bones; bifid thumb, great toe
Diagnosis/Initial	Robinow syndrome
Inheritance	Isolated (sporadic)
Diagnosis/Definite	DRS2
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-30 09:24:57 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.