Details of Disease

General Information of Disease (ID: DIS52389)

• Disease Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
• Synonyms: corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia; agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome; corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia; corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia; corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, X-linked recessive; Graham-Cox syndrome; mental retardation, X-linked, syndromic 28; corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; intellectual disability, X-linked, syndromic 28; MRXS28
• Definition: A developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DISG1YOH: X-linked syndromic intellectual disability
  DIS52389: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010333
  MESH ID: C564509
  UMLS CUI: C1845446
  OMIM ID: 300472
  MedGen ID: 335185
  Orphanet ID: 52055

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
IGBP1	OTTHH4YE	Supportive	X-linked	[1]

References

• [1] A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. Am J Med Genet A. 2003 Nov 15;123A(1):37-44. doi: 10.1002/ajmg.a.20504.