Details of Disease

General Information of Disease (ID: DISLVUFG)

• Disease Name: Isolated cerebellar hypoplasia/agenesis
• Synonyms: isolated cerebellar agenesis; cerebellar hypoplasia; near total absence of cerebellum; congenital cerebellar Hypoplasia; Chiari 4 malformation; Chiari IV malformation; subtotal absence of cerebellum; Cerebellar Agenesis; cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
• Definition: Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DIS2BIP8: Congenital nervous system disorder
  DISLVUFG: Isolated cerebellar hypoplasia/agenesis
• Disease Identifiers:
  MONDO ID: MONDO_0008939
  UMLS CUI: C5231391
  OMIM ID: 213000
  MedGen ID: 1695950
  Orphanet ID: 1398

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
OXR1	OTPIDMT3	Strong	Autosomal recessive	[1]

References

• [1] Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 Dec 5;105(6):1237-1253. doi: 10.1016/j.ajhg.2019.11.002. Epub 2019 Nov 27.