severe X-linked intellectual disability, Gustavson type
Findings
No curated finding names severe X-linked intellectual disability, Gustavson type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Severe X-linked intellectual disability, Gustavson type is characterized by X-linked intellectual disability, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.
Definition from the Mondo Disease Ontology (MONDO:0010661), read 2026-09-29. CC BY 4.0.
Features
34 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.
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- Profound hearing impairmentHPOHP:0012715
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe postnatal growth retardationHPOHP:0008850
- Very frequent (80% to 99% of cases)
- Apneic episodes in infancy
Show the remaining 22
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Small fontanelleHPOHP:0005486
- 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)
- Abnormal pinna morphologyHPOHP:0000377
- Occasional (5% to 29% of cases)
- Calcaneovalgus deformityHPOHP:0001848
- 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.
- RBMXHGNC:9910
- Moderate · PanelApp Australia · X-linked · 2025