Phenotype #0000319147

Individual ID	00428235
Associated disease	?
Diagnosis/Initial	fetal akinesia
Diagnosis/Definite	SMALED2
Phenotype details	reduced fetal movements; contractures hips, knees, ankles, talipes equinovarus (left), sickle foot (right); prominent forehead, four-finger furrow, crossed 2nd and 3rd toe; atonic seizures, cognitive impairment, psychomotor developmental delay, global muscular hypotonia, atrophy of leg muscles, reduced muscle reflexes of the lower extremity, positive babinsky sign (bilateral); bilateral hip dislocation, short stature, two café au lait spots
Inheritance	Familial, autosomal dominant
Age/Examination	8y (8 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	2022-12-24 16:09:43 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD