Phenotype #0000296380

Individual ID	00403685
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	DENNED
Phenotype details	birth 39w, weight 2700g (SD-2.7), length 48cm (SD-0.7), OFC 30.5cm (SD-2.9); 22m weight 8.5kg (SD-3), length 75cm (SD-2.6), OFC 39.5cm (SD-5.5); microcephaly, sloping forehead, upslanting palpebral fissures, high nasal bridge, large ears, thin upper lip, pointed chin; no hearing loss; no congenital heart defect; ocular cataracts; profound psychomotor developmental delay; 37m-head control intermittent; not sitting; not walking; no speech; severe developmental delay/intellectual disability; hypertonic–dystonic movements; hypertonia; axial hypotonia; no nystagmus; no stereotypies; no abnormal behaviour; myoclonic seizures; EEG diffuse slow waves and epileptic discharges; 2y-MRI-brain simplified gyration, thin and arched corpus callosum mainly in the posterior sections, mild hypomyelination
Inheritance	Familial, autosomal recessive
Age/Examination	00y37m (37 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-20 16:20:51 +01:00 (CET)
Date last edited	2024-11-08 11:20:06 +01:00 (CET)