Phenotype #0000343466

Individual ID	00454859
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	RENU
Phenotype details	see paper; ..., intra-uterine growth retardation; short stature; microcephaly, acquired (birth-OFC normal 35cm with progression); severe global developmental delay; 5y-walk, ataxic gait; no speech (8m-responded to name being called, 12m-babbleds); intellectual disability; behavioral issues; hitting now and more behavior; self-stimulation Affect generally appeared flatter than expected, as patient generally appeared to process slowly and required enhanced and elongated stimulation. Self injurious behavior and self stimulating behavior; hypotonia; seizures; MRI brain abnormal, findings are indicative of volume loss/atrophy. However correlation with head circumference, to exclude possible superimposed communicating hydrocephalus, is also advised.2. Opacified paranasal sinuses, tympanic cavities and mastoid air cells. Might be infectious/inflammatory in nature. Findings: The corpus callosum is small in size/atrophic in nature. The optic chiasm and nerves are also small in size. The brainstem is low normal in size. Age 3: Mild cerebral atrophy or volume loss is noted. Ventriculomegaly. Enlarged cerebral subarachnoid space. Hypoplasia of corpus callosum and brainstem. Pineal cyst
Inheritance	Isolated (sporadic)
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-30 10:26:47 +02:00 (CEST)
Date last edited	N/A