syndromic X-linked intellectual disability Siderius type
MONDO:0010286Mondo
Findings
No curated finding names syndromic X-linked intellectual disability Siderius type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
15 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.
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Long faceHPOHP:0000276
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Cleft upper lipHPOHP:0000204
- Very frequent (80% to 99% of cases)
- Large handsHPOHP:0001176
- Very frequent (80% to 99% of cases)
- Orofacial cleftHPOHP:0000202
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Decreased testicular sizeHPOHP:0008734
- Frequent (30% to 79% of cases)
- Low posterior hairlineHPOHP:0002162
- Occasional (5% to 29% of cases)
- Preaxial hand polydactylyHPOHP:0001177
- Occasional (5% to 29% of cases)
Show the remaining 3
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
- SynophrysHPOHP:0000664
- Occasional (5% to 29% of cases)
- ArachnodactylyHPOHP:0001166
- 1 of 7 reported patients
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.
- PHF8HGNC:20672
- Definitive · ClinGen · X-linked · 2018
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2019
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: syndromic X-linked intellectual disability Siderius type
- Also called
- intellectual developmental disorder, X-linked, syndromic, Siderius type, X-linked recessiveintellectual disability syndrome, X-linked, Siderius typeMRXSSDSiderius X-linked intellectual disability syndromeSiderius X-linked mental retardation syndromeSiderius-Hamel syndrome