Dias-Logan syndrome
MONDO:0014914Mondo
Findings
No curated finding names Dias-Logan syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.
Definition from the Mondo Disease Ontology (MONDO:0014914), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
30 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.
- Delayed ability to walkHPOHP:0031936
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 10 of 10 reported patients
- Persistence of hemoglobin FHPOHP:0011904
- 6 of 6 reported patients
- StrabismusHPOHP:0000486
- 8 of 8 reported patients
- Joint hypermobilityHPOHP:0001382
- 7 of 8 reported patients
- Thin upper lip vermilionHPO
Show the remaining 18
- Sleep disturbanceHPOHP:0002360
- 4 of 9 reported patients
- EpicanthusHPOHP:0000286
- 3 of 8 reported patients
- Blue scleraeHPOHP:0000592
- 3 of 9 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 10 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 8 reported patients
- Broad-based gaitHPOHP:0002136
- 2 of 8 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.
- BCL11AHGNC:13221
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Illumina · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: Dias-Logan syndrome
- Also called
- BCL11A-related BAFopathyDias-Logan syndrome; DILOSDILOS