Phenotype #0000296516

Individual ID	00403836
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	normal pregnancy and birth, birth 40w, weight 3400g; weight 60 kg (75 percentile) , height 165 cm (56th percentile) , OFC 56 cm (75-90th percentile); delayed motor development; 2m-smile; 9m-roll; 4m-head control; 12m-sit; 20m-walk; 24m-speech, 7y-impaired speech; no regression; moderate-severe intellectual disability; IQ49 (WISC-IV); mild autism (CARS); hyperactivity and attention disorder; mild hypotonia (improved with age); no ataxia; normal reflexes; tic and mannerism; no epilepsy; EEG dysrhythmic background and generalized spike-waves; normal sleep; metabolic tests (urine organic acids, lipid profile, aminoacids in blood and urine, plasma lactate); hypermetrophia, astigmatism; no hearing loss; mild dysmorphism; downslanting, epicanthus; low-set ears; no joint laxity; scoliosis; Not reported; Disease progression is stable
Inheritance	Familial, autosomal recessive
Age/Examination	14y (14 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