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Summary

Disease	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
OMIM	617193 OMIM = Online Medalian Inheritance of Men
Gene locus	17q25.3
Summary	rare autosomal recessive mutation in the TBCD gene

symptoms

cerebral atrophy

dystonia

early death

encephalopathy

feeding difficulties, poor feeding

growth retardation, poor growth

hypotonia

microcephaly (<2 SD for age)

muscle weakness

onset, infancy

onset, neonatal

optic atrophy

psychomotor retardation

respiratory insufficiency

seizures

laboratory finding

Metabolite	min	max	Norm. min	Norm. max	unit	specimen	agegroup
no specific laboratory findings (P, S, U ,CSF)

Literature

Author	Co-Author	Title	society	book	volume	number	pages	Year
Cailliez M	et al.	Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis	J Inherit Metab Dis		29	6	763	2006
Demirkaya E	et al.	A patient with hyper-IgD syndrome responding to anti-TNF treatment	Clin Rheumatol		0	0		2006
Nevyjel M	et al.	Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency	Pediatrics		119	2	e523-527	2007