Phenotype #0000296520

Individual ID	00403840
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	normal pregnancy, birth full-term with vaginal delivery; weight 11.2 kg (95th percentile), OFC 39.5(< 3rd percentile); mild delayed motor development; 8m-no head control; 13m-sit; 13m-speech; 8m-admitted to hospital recurrent convulsions, epileptic encephalopathy with recurrent episodes convulsion with motion arrest with staring lasting for seconds, 13m-seizures 1/m, trigger often fever; EEG slow background rhythm; MRI brain 1m-dilated cisterna magna and bilateral frontotemporal extracerebral space.; ultrasonic cardiography showed patent foramen ovale; normal blood and urin tests; severe, bilateral hearing loss; dysmorphism; depressed nasal bridge, upturned nose; micrognathia; prominent ears; delayed bone age, middle and index finger seperated; Separated middle and index finger; Patent foramen ovale
Inheritance	Familial, autosomal recessive
Age/Examination	8m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-24 15:46:26 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD