Phenotype #0000242942

Individual ID	00324400
Associated disease	?
Diagnosis/Initial	microcephaly, global developmental delay, hypotonia, small size
Diagnosis/Definite	-
Phenotype details	see paper; ..., typical facial features, microcephaly, high forehead, abnormal ears; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; feeding difficulties; no antibody deficiency; no genitourinary tract anomalies; structural brain anomalies; no liver anomalies
Inheritance	Isolated (sporadic)
Age/Examination	00y26m (26 months)
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	2020-12-11 14:05:55 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD