Phenotype #0000296517

Individual ID	00403837
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	normal vaginal delivery, birth 38+3w, length 47 cmcm, weight 3070g; OFC31 cm; weight 38.2 kg (39 percentile), height 138 cm (50 percentile), OFC 53 cm (50 percentile); global developmental delay; 6m-roll; 22m-sit; 3y-walk; 3y-speech, three-word sentences; moderate intellectual disability; IQ50 (SON-R); sometimes autoagressive behaviour (bites his hands), enuresis nocturna; 1-2y-pronounced muscle hypotonia noticeable; 6y-muscle normal; last presentation, no marked muscle hypotonia; no epilepsy; EEG normal; normal sleep; MRI brain 2w-unremarkable; normal routine blood tests; strabism; no hearing loss; dysmorphism; mild hypertelorism, blue sclera, line, sparse lateral eyebrow; full lips; no scoliosis; flat-footed; PDA, PFO, multiple aortopulmonary collateral arteries (MAPCAs), Sagittal craniosynostosis, There has been no disease progression in recent years
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 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