Phenotype #0000073437

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00095049
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	straight eyebrows, upslanted palpebral fissures, thin upper lip vermilion, relative microcephaly (HC 10th percentile), global developmental delay, sleep disorder, hypotonic face with drooling, generalized hypotonia, mild ataxia
Inheritance	Isolated (sporadic)
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-01-05 19:50:12 +01:00 (CET)
Date last edited	N/A

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