ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM

Question 1

What is  ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM?

Accepted Answer

rare
autosomal recessive
mutation in the TBCD gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Early-onset progressive diffuse brain atrophy-postnatal microcephaly-muscle weakness-optic atrophy syndrome

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617193

Question 4

Which enzymes are involved?

Accepted Answer

Tubulin-specific chaperone D

Disease	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
OMIM	617193 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Tubulin-specific chaperone D
Gene locus	17q25.3
ICD
Summary	rare autosomal recessive mutation in the TBCD gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
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