X-linked intellectual disability-plagiocephaly syndrome
Findings
No curated finding names X-linked intellectual disability-plagiocephaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability-plagiocephaly syndrome is characterized by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0010237), read 2026-09-29. CC BY 4.0.
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.
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
- BradycardiaHPOHP:0001662
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Decreased fetal movementHPOHP:0001558
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Developmental stagnationHPOHP:0007281
- Frequent (30% to 79% of cases)
- Diffuse cerebral atrophy
Show the remaining 2
- Prominent foreheadHPOHP:0011220
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: X-linked intellectual disability-plagiocephaly syndrome
- Also called
- Hyde Forster-McCarthy-Berry syndrome