Phenotype #0000296512

Individual ID	00403832
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	normal pregnancy and birth, birth 40+2w, length 53 cm, weight 4265 g; weight 40 kg (< 3rd percentile), height 142 cm (< 3rd percentile), OFC 51 cm (< 3rd percentile); delayed motor development; rarely smiles; 9m-roll; 24m-sit; 3y-walk, still short distance; 9m-speech, 3y-lost babling and few words; regression; severe intellectual disability; IQ not assessable; screaming; hypotonia (no improvement with age); no ataxia; normal reflexes; poor balance, idiopatic orofacial dystonia; 4y-epilepsy, focal seizures, atypical absences, GTCS (2-3/m), trigger stress, bright lights; EEG multifocal discharges; normal sleep; MRI brain 20y-central and cortical atrophy, lack of white substans, thin corpus callosum; normal abdominal ultrasound; cerebral visual impairment; mild hearing loss; dysmorphism; hypertelorism; small sharp nose; retrognathia; joint laxity; mild scoliosis, likely due to immobility; normal hands/feet; Increased pain treshold, Unmotivated laughting, Hypersalivatio, Disease progression is stable
Inheritance	Familial, autosomal recessive
Age/Examination	24y (24 years)
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