Phenotype #0000070578

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00092244
Associated disease	SHMS;MRD17
Phenotype details	severe IDD, microcephaly, facial dysmorphisms, myopia, bifid uvula and submucous cleft, dysplastic pulmonary, aortic valves, failure to thrive progressive ataxia and cerebellar atrophy; neurodegeneration progressive cerebellar atrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2016-12-16 19:09:22 +01:00 (CET)
Date last edited	N/A

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