Phenotype #0000230416

Individual ID	00303339
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., during pregnancy 28w-oligohydramnios and fetal growth restriction; emergency caesarian section due to oligohydramnios; birth 35+4w; severe-profound intellectual disability; developmental delay; motor delay, rolling over at 2y; currently still unable to sit independently; speech delay, able to coo, cannot yet babble; dysarthria, no speech; epilepsy, uprolling of eyeballs with loss of consciousness, no tonic or clonic movement of limbs; EEG abnormal, focal epileptiform activity over right occipital region asymmetric photic driving response; central hypotonia; spasticity lower limb hypertonia and hyperreflexia, contractures of knees and ankles; ataxia, unable to walk independently; no behavioral disturbances; no sleep disturbances; MRI brain microcephaly without other brain anomalies; no regression; continuous involuntary twisting movement of hands and wrists, possible choreoathetoid movement; tall forehead, hypertelorism, blepharophimosis, short nose; widely spaced teeth; significant drooling; eats a soft diet because of aspiration/choking on solid food; no hearing abnormalities; no cortical blindness, able fix and follow with her eyes but very slowly; normal echocardiogram; tapering fingers; no hypermobility joints; constipation; no urogenital abnormalities; no endocrine/metabolic abnormalities; no recurrent infections, immunological testing not performed; normal skin, normal hair, normal nails; no neoplasms
Inheritance	Isolated (sporadic)
Age/Examination	05y03m (5 years, 3 months)
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 14:35:41 +02:00 (CEST)