Phenotype #0000228821

Individual ID	00301723
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	failure to thrive, developmental delay and skeletal findings. He had no head control at 6 months, could not sit at 10 months, and only walked at 2 years. He has history of undescended right testicle status post orchidopexy. Examination revealed microcephaly, truncal hypotonia, flat occiput, midface hypoplasia, bilateral ptosis, blue sclera, depressed nasal bridge, micrognathia, low set posteriorly rotated small ears, camptodactyly, and distal arthrogryposis. Parents are distant cousins and he has an affected sister.
Inheritance	Familial, autosomal recessive
Age/Examination	9y (9 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	2020-05-22 17:20:34 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD