MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14

Question 1

What is  MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14?

Accepted Answer

very rare

autosomal recessive

mutation in the TECR gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614020

Question 3

Which enzymes are involved?

Accepted Answer

Trans-2,3-enoyl-CoA reductase

Disease	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14; MRT14
OMIM	614020 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Trans-2,3-enoyl-CoA reductase
Gene locus	19p13.12
ICD
Summary	very rare autosomal recessive mutation in the TECR gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	developmental delay intellectual disability/intellectual developmental disorder mental retardation onset, childhood speech development, delayed, abnormal tremor or twitching