Phenotype #0000300232

Individual ID	00408104
Associated disease	-
Phenotype details	1 year old boy was bone with an uncomplicated perinatal course. At birth noticed to have multiple contractures of feet, knees, elbows, and hands. He also had developmental delay, hypotonia, macrocephaly, metopic craniosynostosis, prominent bifrontal extra-axial CSF spaces in neuroimaging, ventricular septal defect, decreased hearing on right ear, and distinctive facial features (depressed nasal bridge and prominent frontal head). His parents were cousins and he had 3 healthy siblings.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bruck syndrome 1
Age/Examination	1y (1 year)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-13 19:19:00 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD