Phenotype #0000319012

Individual ID	00428066
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental dealy
Diagnosis/Definite	-
Phenotype details	brith 40w, weight 3,640 g, length 53 cm, OFC 34.5 cm; absent speech; delayed gross motor development; delayed fine motor milestones; severe neurodegenerative disease since infancy, severe intellectual disability, no IQ measurable; myoclonic seizures; no autism; hypotonia; MRI brain decreased volume of corpus callosum, small anterior commissure, prominent ventricles, subtle interdigitation of interomedial frontal gyri, rotated small cerebellar hemispheres rotated small vermis, small pons, medulla and middle cerebellar peduncles, small rounded hippocampi, plagiocephaly, small temporal tips, uncovered insula; no behavior abnormalities; infancy failure to thrive; feeding problems, G-tube; dysmotility, difficulty swallowing, constipation; hypoventilation, nasal cannula while asleep; 6y-blindness impairment; 1y-hearing impairment (deaf aid); no dysmorphic features, only secondary due to spasticity; no congenital anomalies; muscle biopsy high variation of the fiber size and round structures in nerve fascicles, expression of MHC-neonatal; estrogen deficiency, no menarche; 2012 skin biopsy (neuropathology Charité Berlin): suspicion of Morbus Cori (glycogenosis 3), Lafora disease (unconfirmed)
Inheritance	Familial, autosomal recessive
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-21 10:47:09 +01:00 (CET)
Date last edited	N/A