Phenotype #0000267868

Individual ID	00372554
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	severe developmental delay/intellectual disability; Generalized and focal seizures (onset at 3 months, treatment resistant); Hypotonia; Strabismus; MRI brain borderline delayed myelination pattern, mild generalized prominence of the extra-axial CSF spaces; no microcephaly; Bulbous naval tip, anteverted nares; normal philtrum; normal mouth; no teeth and gum abnormalities; normal chin; abundant scalp hair; Large appearing ears; mesomelic dysplasia lower limbs; arms and legs radial heads hypoplastic and posteriorly subluxated, bilateral fibular hemimelia, long halluces; Overlapping fingers, Camptodactyly, 5th finger clinodactyly, hypoplastic flexion creases, single transverse palmar creases; Deep Sacral dimple; normal hips and pelvis; horseshoe kidney; no failure to thrive; no respiratory problems; Short stature, 2 small muscular ventricular septal defects, grade 1 vesicoureteral reflux
Inheritance	Isolated (sporadic)
Age/Examination	00y08m (8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-09 16:07:08 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD