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X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

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
MedicalCondition developmental_defect_during_embryogenesis Q55373611
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X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance

Summary

X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance is a developmental defect during embryogenesis[1].

Key Facts

  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance's instance of is recorded as developmental defect during embryogenesis[2].
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance's instance of is recorded as class of disease[3].
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance is a type of X-linked intellectual disability[4].
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance is a type of rare genetic developmental defect during embryogenesis[5].
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance is a type of syndrome with a cerebellar malformation as major feature[6].
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance's genetic association is recorded as OPHN1[7].
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080311[8].
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_137831[9].
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance's exact match is recorded as http://identifiers.org/doid/DOID:0080311[10].
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  7. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  10. [11] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance. Retrieved May 3, 2026, from https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance
MLA “X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance.
BibTeX @misc{4ortxyz_x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance}}, year = {2026}, url = {https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance — https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/x-linked-mental-retardation-with-cerebellar-hypoplasia-and-distinctive-facial-appearance · Last refreshed:

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 5w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0010337
    Genetic association → OPHN1
    Gard rare disease id → 9947, 13093
    Orphanet id → 137831
    + 11 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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