Phenotype #0000229655

Individual ID	00302576
Associated disease	?
Diagnosis/Initial	Silver–Russel syndrome
Diagnosis/Definite	mulibrey nanism
Phenotype details	see paper; ..., intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly, body asymmetry, bilateral fifth finger clinodactyly, left atrial and ventricular enlargement, patent foramen ovale: X-ray hypoplasia twelfth rib bilaterally and coccyx, slender long bones with thick cortex, narrow medullary channels
Inheritance	Familial, autosomal recessive
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Kaisa Kettunen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-25 19:34:11 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD