MLchartDataset catalogue

Pontocerebellar hypoplasia type 2

Term · Environment · MLC-T-ENV-021589

A rare brain developmental disorder caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. The pons and cerebellum are the brain structures that are more severely affected. It is characterized by microcephaly, lack of voluntary motor skills, dysphagia, inability to communicate, abnormal patterns of movement, and spasticity.

Table 1. Record
IdentifierMLC-T-ENV-021589
FieldEnvironment
SubjectBiological substances
ReferencesNational Cancer Institute Thesaurus (CC BY 4.0)
Record as JSON 
{
  "id": "MLC-T-ENV-021589",
  "term": "Pontocerebellar hypoplasia type 2",
  "field": "Environment",
  "term_source": "Pontocerebellar Hypoplasia Type 2",
  "definition": "A rare brain developmental disorder caused by mutations in the TSEN54, TSEN2, TSEN34, or SEPSECS gene. The pons and cerebellum are the brain structures that are more severely affected. It is characterized by microcephaly, lack of voluntary motor skills, dysphagia, inability to communicate, abnormal patterns of movement, and spasticity.",
  "subject": "Biological substances",
  "references": [
    "National Cancer Institute Thesaurus"
  ],
  "url": "https://mlchart.com/terminology/environment/pontocerebellar-hypoplasia-type-2/"
}

Record 21,006 of 29,894 in Environment terminology (MLC-0121). Request the full dataset.