X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Findings
No curated finding names X-linked intellectual disability-macrocephaly-macroorchidism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterized by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localized to the q12-q21 region of the X chromosome.
Definition from the Mondo Disease Ontology (MONDO:0019419), read 2026-09-29. CC BY 4.0.
Features
3 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.
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- MacroorchidismHPOHP:0000053
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: X-linked intellectual disability-macrocephaly-macroorchidism syndrome
- Also called
- Johnson syndrome