Details of Disease

General Information of Disease (ID: DISLW2CX)

• Disease Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
• Definition: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia).
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DIS2BIP8: Congenital nervous system disorder
  DISOV08L: Central nervous system malformation
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISLW2CX: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0018822
  UMLS CUI: C5567522
  MedGen ID: 1798945
  Orphanet ID: 480898
  SNOMED CT ID: 1172696009

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
EMC1	OTYAH4LX	Supportive	Autosomal dominant	[1]

References

• [1] Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 3;98(3):562-570. doi: 10.1016/j.ajhg.2016.01.011.