MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Question 1

What is  MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR?

Accepted Answer

very rare

X-likend recessive

mutation in the spermine synthase gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 309583

Question 3

Which enzymes are involved?

Accepted Answer

Spermine synthase

Disease	MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR
OMIM	309583 OMIM = Online Mendelian Inheritance of Men
Orphanet	3063
Protein (UniProt)	Spermine synthase
ExPASy	2.5.1.22
Gene locus	Xp22.11
ICD
Summary	very rare X-likend recessive mutation in the spermine synthase gene
Laboratory findings	N(8)-acetylspermidine inc (plasma)
Symptoms	bifid uvula bone fractures brachycephaly cleft palate craniofacial anomalies cryptorchism dysmorphism hyperpigmentation hypertelorism hypotonia intellectual disability/intellectual developmental disorder Marfanoid features mental retardation myopia onset, childhood onset, infancy osteoporosis seizures short stature skoliosis, kyphoskoliosis speech development, delayed, abnormal speech difficulties tall stature