X-linked intellectual disability, Porteous type
MONDO:0019766Mondo
Findings
No curated finding names X-linked intellectual disability, Porteous type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
14 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.
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Bulbous noseHPOHP:0000414
- Frequent (30% to 79% of cases)
- Cupped earHPOHP:0000378
- Frequent (30% to 79% of cases)
- Decreased body weightHPOHP:0004325
- Frequent (30% to 79% of cases)
- Frontal baldingHPOHP:0002292
- Frequent (30% to 79% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Frequent (30% to 79% of cases)
- Long faceHPOHP:0000276
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
- Mandibular prognathiaHPOHP:0000303
- Frequent (30% to 79% of cases)
- Narrow faceHPOHP:0000275
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
Show the remaining 2
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- 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