Details of Disease

General Information of Disease (ID: DISQRH96)

• Disease Name: Syndromic X-linked intellectual disability 34
• Synonyms: mental retardation, X-linked, syndromic, Mircsof-Langouet type; intellectual disability, X-linked, syndromic, Mircsof-Langouet type; macrocephaly-intellectual disability-left ventricular non compaction syndrome; MRXS34; intellectual developmental disorder, X-linked syndromic 34; mental retardation, X-linked, syndromic type 34; X-linked syndromic intellectual disability caused by mutation in NONO; NONO X-linked syndromic intellectual disability; syndromic X-linked intellectual disability Mircsof-Langouet type; mental retardation, X-linked, syndromic 34; intellectual disability, X-linked, syndromic type 34; syndromic X-linked mental retardation Mircsof-Langouet type; intellectual disability, X-linked, syndromic 34; MRXSML; syndromic X-linked intellectual disability type 34
• Definition: Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISG1YOH: X-linked syndromic intellectual disability
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISQRH96: Syndromic X-linked intellectual disability 34
• Disease Identifiers:
  MONDO ID: MONDO_0010501
  UMLS CUI: C4225417
  OMIM ID: 300967
  MedGen ID: 902184
  Orphanet ID: 466791

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NONO	OTN36Q6U	Strong	X-linked	[1]

References

• [1] NONO couples the circadian clock to the cell cycle. Proc Natl Acad Sci U S A. 2013 Jan 29;110(5):1592-9. doi: 10.1073/pnas.1213317110. Epub 2012 Dec 24.