X-linked intellectual disability, Golabi-Ito-hall type
Findings
No curated finding names X-linked intellectual disability, Golabi-Ito-hall type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
Definition from the Mondo Disease Ontology (MONDO:0019768), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cupped earHPOHP:0000378
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long faceHPOHP:0000276
- Very frequent (80% to 99% of cases)
- MacroglossiaHPOHP:0000158
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Narrow faceHPOHP:0000275
- Very frequent (80% to 99% of cases)
- Protruding earHPOHP:0000411
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Triangular faceHPOHP:0000325
- Very frequent (80% to 99% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Very frequent (80% to 99% of cases)
- Atrial septal defectHPOHP:0001631
- Frequent (30% to 79% of cases)
Show the remaining 7
- Brittle hairHPOHP:0002299
- Frequent (30% to 79% of cases)
- Dry hairHPOHP:0011359
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- Spastic diplegiaHPOHP:0001264
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PQBP1HGNC:9330
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of