Phenotype #0000308361

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00416851
Associated disease	MRD7
Phenotype details	brain magnetic resonance imaging: wide peripheral liquor spaces; additional clinical featureslow birth weight, brachycephaly, hypertonia, severe developmental delay (consanguineous parents)
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	Autosomal dominant mental retardation 7 [MIM 614104]
Age/Examination	2y (2 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-08 10:25:47 +02:00 (CEST)
Date last edited	N/A

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