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global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018822

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). [ Orphanet:480898 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:17871 (MONDO:GARD)
  • MEDGEN:1798945 (MONDO:equivalentTo)
  • UMLS:C5567522 (MONDO:equivalentTo)
  • Orphanet:480898 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, rare, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/medgen/1798945

http://linkedlifedata.com/resource/umls/id/C5567522

http://www.orpha.net/ORDO/Orphanet_480898

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0018822

term tracker item

https://github.com/monarch-initiative/mondo/issues/5588