Phenotype #0000002849

Global Variome shared LOVD

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

Individual ID	00004046
Associated disease	SCKL2
Phenotype details	microphthalmia, micrognathia, microglossia, and small teeth. Bilateral basal ganglia calcification and cerebellar calcification on brain MRI
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Fowzan Alkuraya
Database submission license	No license selected
Created by	Fowzan Alkuraya
Date created	2013-11-21 22:10:17 +01:00 (CET)
Date last edited	2013-11-22 15:20:19 +01:00 (CET)

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