Phenotype #0000359683

Individual ID	00474890
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	DEDHIL
Phenotype details	see paper; ..., no prenatal anomalies; neonatal hypotonia; failure to thrive; global developmental delay; no ophthalmologic problems; no hearing loss; anterior open-bite malocclusion; patent ductus arteriosus (surgical correction), shunts for perimembranous interventricular defect and ostium secundum interatrial defect; recurrent pneumonia, low ciliar functioning; episodic constipation; no renal anomalies; no genitourinary problems; neonatal anemia; no endocrine problems; pectus carinatum, mild scoliosis; IgG1 deficit; hypopigmented skin across Blaschko lines; long face, bulbous nose, posteriorly rotated ears, high narrow palate, nasal voice; normal hands, normal feet
Inheritance	Isolated (sporadic)
Age/Examination	9.5y
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-27 14:20:42 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD