X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
type: Thing
description: X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities
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  value: developmental defect during embryogenesis
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  value: class of disease
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  value: X-linked intellectual disability
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  value: rare genetic developmental defect during embryogenesis
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  value: syndrome with a cerebellar malformation as major feature
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  value: OPHN1
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confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
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      sitelinks norm: 0.0
      unique citations: 7
      unique citations norm: 0.003
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  sitelinks: 0
  unique citations: 7
  monthly pageviews: 0
  yearly pageviews: 3
  pageview trend:
    m: 2026-05
    v: 1
  pageview trend:
    m: 2026-04
    v: 2
  tier: established
claims:
  P31:
    value: Q55788864
    source count: 1
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    value label: developmental defect during embryogenesis
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    value label: class of disease
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    value label: X-linked intellectual disability
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    value label: rare genetic developmental defect during embryogenesis
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    value label: syndrome with a cerebellar malformation as major feature
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  P2293:
    value: Q18030282
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    value label: OPHN1
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citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
citations:
  source: Identifiers.org
  stated in qid: Q16335166
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-07-28
citations:
  source: Disease Ontology
  stated in qid: Q5282129
  retrieved: 2020-11-30
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
citations:
  source: UMLS 2023
  stated in qid: Q118645236
  retrieved: 2023-06-16
meta:
  wikidata id: Q55373611
  domain: developmental_defect_during_embryogenesis
  level: standard
  html url: https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance
  markdown url: https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance.md
  facts url summary: https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance/facts.json
  facts url standard: https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance/facts.json
  facts url full: https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-12T09:51:44.614644Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:44:12.717693+00:00Z