MOHR-TRANEBJAERG SYNDROME; MTS

Question 1

What is  MOHR-TRANEBJAERG SYNDROME; MTS?

Accepted Answer

rare
X-linked recessive
mutation in the TIMM8A (DDP) gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mohr-Tranebjaerg-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 304700

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial import inner membrane translocase subunit Tim8 A

Disease	MOHR-TRANEBJAERG SYNDROME; MTS
Synonym	DYSTONIA-DEAFNESS SYNDROME; DDS; JENSEN SYNDROME
OMIM	304700 OMIM = Online Mendelian Inheritance of Men
Orphanet	52368
Protein (UniProt)	Mitochondrial import inner membrane translocase subunit Tim8 A
Gene locus	Xq22.1
ICD	G31.81
Summary	rare X-linked recessive mutation in the TIMM8A (DDP) gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	behavior, abnormal or bizarre, confusion blindness, visual loss, visual impairment bone fractures dementia dysarthria dysphagia dystonia hearing defect, deafness hyperreflexia mental retardation myopia onset, childhood optic atrophy photophobia or photosensitive defect in light-exposed area tremor or twitching