Phenotype #0000204014

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00266138
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Microcephaly, hypotonia, developmental delay, growth retardation, intellectual disability MRI: Mild prominence of the supratentorial sulci and cisterns Craniofacial features: upslanting palpebral fissures, hypertelorism, periorbital fullness, flat nasal bridge, wide mouth, short philtrum Other: Pervasive developmental delay, hypospadias
Inheritance	Unknown
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Sanne Savelberg
Database submission license	No license selected
Created by	Sanne Savelberg
Date created	2019-10-17 12:21:59 +02:00 (CEST)
Date last edited	2019-10-18 00:59:20 +02:00 (CEST)