Coffin-Lowry syndrome
Findings
No curated finding names Coffin-Lowry syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
Definition from the Mondo Disease Ontology (MONDO:0010561), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
93 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.
- Broad columellaHPOHP:0010761
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Hyperextensibility of the finger jointsHPOHP:0001187
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 81
- Thick lower lip vermilionHPOHP:0000179
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Thick nasal alaeHPOHP:0009928
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Thick nasal septumHPOHP:0009746
- 1 of 1 reported patient
- Thoracic lordosisHPOHP:0430043
- 4 of 4 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Abnormal dental morphologyHPOHP:0006482
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.
- RPS6KA3HGNC:10432
- Definitive · ClinGen · X-linked · 2019
- Definitive · G2P · X-linked · 2025
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: Coffin-Lowry syndrome
- Also called
- CLSCoffin Lowry SyndromeCoffin-Lowry syndrome, X-linked dominant