Phenotype #0000359692

Individual ID	00474899
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	DEDHIL
Phenotype details	see paper; ..., low maternal serum PAPP-A; velamentous cord insertion; generalized hypotonia; treatment-refractory seizures; 9m-MRI brain large cerebellum with crowded posterior fossa; global developmental delay, no speech, not ambulatory; visual impairment, bilateral ptosis, cortical visual impairment; unclear; dental caries; ventricular septal defect (spontaneously closed); mesocardia; recurrent aspiration pneumonias; reactive airway disease; MRI brain sinuses unremarkable; constipation; oro-motor feeding dysfunction; GERD; G-tube fed; bilateral inguinal hernias; no hematologic problems; neonatal hypoglycemia (resolved); right calcaneovalgus deformity at birth (resolved); recurrent infections; capillary hemangiomas; nevus; low anterior hairline; bilateral ptosis; thin ear helix; synophrys; bilateral single transverse palmar crease, tapered fingers, interphalangeal joint contracture finger, short phalanges fingers, 2-3 toe syndactyly, prominent calcaneus
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 years)
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