X-linked intellectual disability, Sutherland-Haan type
MONDO:0019769Mondo
Findings
No curated finding names X-linked intellectual disability, Sutherland-Haan type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
18 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.
- Decreased body weightHPOHP:0004325
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- Decreased testicular sizeHPOHP:0008734
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Small for gestational ageHPOHP:0001518
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Upslanted palpebral fissureHPOHP:0000582
- Frequent (30% to 79% of cases)
- Anal atresiaHPOHP:0002023
- Occasional (5% to 29% of cases)
Show the remaining 6
- Long faceHPOHP:0000276
- Occasional (5% to 29% of cases)
- MacrotiaHPOHP:0000400
- Occasional (5% to 29% of cases)
- Mandibular prognathiaHPOHP:0000303
- Occasional (5% to 29% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Occasional (5% to 29% of cases)
- Narrow faceHPOHP:0000275
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% 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