Phenotype #0000037266

Individual ID	00050654
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	disproportionate short-limb short stature, polyhydramnios, blue irides, downslanted palpebral fissures, micrognathia, pectus carinatum, hepatomegaly, splenomegaly, hypertrichosis, secundum atrial septal defect, abnormality of lipid metabolism, wide intermamillary distance, lack of subcutaneous fatty tissue, global developmental delay, intellectual disability mild, abnormality of the hand
Inheritance	Unknown
Age/Examination	-
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	2015-09-27 16:16:40 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD