MENTAL RETARDATION, X-LINKED 91; MRX91

Question 1

What is  MENTAL RETARDATION, X-LINKED 91; MRX91?

Accepted Answer

rare

X-linked dominant

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 300577

Question 3

Which enzymes are involved?

Accepted Answer

Palmitoyltransferase ZDHHC15

Disease	MENTAL RETARDATION, X-LINKED 91; MRX91
Synonym	ZDHHC15 PALMITOYLTRANSFERASE DEFICIENCY
OMIM	300577 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Palmitoyltransferase ZDHHC15
Gene locus	Xq13.3
ICD
Summary	rare X-linked dominant
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	clinodactyly dysmorphism epilepsy hypotonia onset, adolescent onset, childhood psychomotor retardation speech development, delayed, abnormal