X-linked intellectual disability-psychosis-macroorchidism syndrome
MONDO:0010235Mondo
Findings
No curated finding names X-linked intellectual disability-psychosis-macroorchidism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
59 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.
- Absent speechHPOHP:0001344
- 3 of 3 reported patients
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- ApraxiaHPOHP:0002186
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- BradykinesiaHPOHP:0002067
- 4 of 4 reported patients · Male
- Delayed ability to sitHPOHP:0025336
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients · Male
- DroolingHPOHP:0002307
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Facial hypotoniaHPOHP:0000297
- 2 of 2 reported patients
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
Show the remaining 47
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 20 of 20 reported patients
- 2 of 2 reported patients
- 5 of 5 reported patients · Male
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients · Female
- 0 of 4 reported patients · Male
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 2 of 2 reported patients · Female
- Persistent head lagHPOHP:0032988
- 1 of 1 reported patient
- Resting tremorHPO
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.
- MECP2HGNC:6990
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
12 names
Resolves to: X-linked intellectual disability-psychosis-macroorchidism syndrome
- Also called
- intellectual developmental disorder, X-linked, syndromic 13, X-linked recessiveintellectual disability with psychosis, pyramidal signs, and macroorchidismintellectual disability, X-linked, syndromic 13intellectual disability, X-linked, syndromic type 13Lindsay-Burn syndromemental retardation with psychosis, pyramidal signs, and macroorchidismmental retardation, X-linked, syndromic 13mental retardation, X-linked, syndromic type 13MRXS13PPM-XX-linked intellectual disability 79X-linked intellectual disability with spasticity