Phenotype #0000304357

Individual ID	00412352
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	last assessment early childhood; height +0.01 SD; no microcephaly; no short stature; walking not yet achieved; intellectual disability; developmental delay; speech not yet achieved; no seizures/epilepsy; axial hypotonia diagnosed during infancy; stereotypic movements, hand flapping and head tapping, opening and closing hands; cortical visual impairment, horizontal nystagmus, photophobia; normal hearing; positional posteriorly flattened plagiocephaly (resolved); neonatal feeding difficulty, poor suck, lethargic, as an infant was diagnosed with GERD and suspected cow's milk intolerance, video fluoroscopy was done demonstrating dysphagia with aspiration, borderline unsafe to swallow, as a toddler: G-tube inserted and predominantly G-tube fed; no autism spectrum disorder, self-stimulatory behavior (hand flapping and head tapping, opening and closing hands); no failure to thrive, bborderline (-1.98SD weight); no sleeping difficulties; no skeletal abnormalities; recurrent pneumonia, recurrent episodes of low-grade fever lasting 1-2 days approx once a month with worsened symptoms; MRI brain normal; Spot EEG normal during infancy; no cardiac abnormalities
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	2022-06-27 19:18:04 +02:00 (CEST)
Date last edited	N/A