Phenotype #0000230428

Individual ID	00303351
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth 42w; severe intellectual disability; developmental delay, global; motor delay; speech delay; epilepsy, tonic clonic seizures, absences, complex partial seizures, nocturnal seizures; truncal hypotonia; appearance of upper and lower limb spasticity; ataxia; autism spectrum disorder and hand stereotypies: clapping and hand wringing; sleep disturbances, very difficult to settle; MRI brain periventricular leukomalacia with some loss of white matter and thinning of the corpus callosum; regression, associated with seizures; brachycephaly, plagiocephaly, relatively small ears which are anteverted, broad alveolar ridges, downslant of palpebral fissurses, prominent glabella and nasal bridge; dental overcrowding and gum hypertrophy, difficulty with chewing, enamel hypoplasia; hypermetropia; ventricle septum defect; hip surgery; both constipation treated with movicolon and loose stools; poor temperature control; no particular tendency to infection, no immunological testing performed;
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-10 17:04:23 +02:00 (CEST)
Date last edited	2021-04-11 14:42:55 +02:00 (CEST)

Global Variome shared LOVD