Phenotype #0000319151

Individual ID	00428239
Associated disease	?
Diagnosis/Initial	fetal akinesia
Diagnosis/Definite	-
Phenotype details	termination pregnancy 29w; reduced fetal movements, polyhydramnios, brachycephaly, scalp oedema, prenasal oedema, neck oedema, pulmonary hypoplasia, dextrocardia, gastrointestinal abnormalities; contractures fingers, wrists, talipes equinovarus (bilateral), rocker-bottom feet; skull deformation with protruding skull bones, micrognathia and retrognathia, clinodactyly of 2nd digit (bilateral); cerebral ventriculomegaly; severe pulmonary hypoplasia, dextrocardia, clenched hands with crossing fingers (bilateral)
Inheritance	Familial, autosomal recessive
Age/Examination	<0d
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	2022-12-24 16:09:43 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD