Phenotype #0000333241

Individual ID	00443986
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental syndrome
Diagnosis/Definite	-
Phenotype details	see paper; ..., prenatal mild ventriculomegaly, polyhydramnios; no hypertelorism; bilateral epicanthal folds; normal nasal bridge; short philtrum, tented upper lip, thick lips, high narrow palate, crowding of teeth; anteverted ears, large ears; normal hair; asymmetric skull, bitemporal narrowing; prominent metopic ridge, overhanging columnella; pectus deformity, pes planus; motor delay; 2y5m-not yet walking, can take steps with support; speech delay; no speech yet; bruxism; hyperactivity; no clinical seizures; EEG normal; hypotonia; feeding difficulties
Inheritance	Familial, autosomal recessive
Age/Examination	2y5m (2 years, 5 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-12-09 16:29:47 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD