syndromic X-linked intellectual disability 5
Findings
No curated finding names syndromic X-linked intellectual disability 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.
Definition from the Mondo Disease Ontology (MONDO:0010574), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
41 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
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Aggressive behaviorHPOHP:0000718
- 10 of 21 reported patients
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the cerebellumHPOHP:0007360
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% 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.
- AP1S2HGNC:560
- Definitive · G2P · X-linked · 2015
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2015
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
12 names
Resolves to: syndromic X-linked intellectual disability 5
- Also called
- intellectual disability, X-linked syndromic 5MRX59MRXS21Pettigrew syndromePettigrew syndrome, X-linked recessivesyndromic X-linked intellectual disability 21syndromic X-linked intellectual disability fried typesyndromic X-linked intellectual disability type 5X-linked intellectual disability 59X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndromeX-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndromeX-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome