X-linked intellectual disability with isolated growth hormone deficiency
MONDO:0019032Mondo
Findings
No curated finding names X-linked intellectual disability with isolated growth hormone deficiency 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.
- Decreased circulating insulin-like growth factor 1 concentrationHPOHP:0030353
- Very frequent (80% to 99% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal myelinationHPOHP:0012447
- Occasional (5% to 29% of cases)
- Abnormal saccadic eye movementsHPOHP:0000570
- Occasional (5% to 29% of cases)
- Anterior pituitary hypoplasiaHPOHP:0010627
- Occasional (5% to 29% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
- Ectopic posterior pituitaryHPOHP:0011755
- Occasional (5% to 29% of cases)
- Gaze-evoked horizontal nystagmusHPOHP:0007979
- Occasional (5% to 29% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Occasional (5% to 29% of cases)
- Mild global developmental delayHPOHP:0011342
- Occasional (5% to 29% of cases)
Show the remaining 2
- Oculomotor apraxiaHPOHP:0000657
- Occasional (5% to 29% of cases)
- Small posterior fossaHPOHP:0040010
- 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.
- SOX3HGNC:11199
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: X-linked intellectual disability with isolated growth hormone deficiency
- Also called
- MRGH