MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD (MED13L)

Question 1

What is  MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD (MED13L)?

Accepted Answer

rare

autosomal dominant

mutation in the MED13L gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616789

Question 3

Which enzymes are involved?

Accepted Answer

Mediator of RNA polymerase II transcription subunit 13-like

Disease	MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD (MED13L)
OMIM	616789 OMIM = Online Mendelian Inheritance of Men
Orphanet	369891
Protein (UniProt)	Mediator of RNA polymerase II transcription subunit 13-like
Gene locus	12q24.21
ICD	Q87.8
Summary	rare autosomal dominant mutation in the MED13L gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	ataxia behavior, autism or autistic-like brachycephaly clubfoot congenital heart defect craniostenosis cryptorchism dysmorphism hypertelorism hypotonia infections (severe or recurrent) intellectual disability/intellectual developmental disorder macroglossia, large/protuding tongue mental retardation MRI, brain, abnormalities [-] onset, childhood onset, infancy psychomotor retardation seizures speech development, delayed, abnormal strabismus