DOORS syndrome
Findings
No curated finding names DOORS syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.
Definition from the Mondo Disease Ontology (MONDO:0009079), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
102 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.
- Bulbous noseHPOHP:0000414
- 20 of 20 reported patients
- Frequent (30% to 79% of cases)
- Gingival overgrowthHPOHP:0000212
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 24 of 24 reported patients
- Very frequent (80% to 99% of cases)
- Hypoplastic fingernailHPOHP:0001804
- 30 of 30 reported patients
- Hypoplastic toenailsHPOHP:0001800
- 31 of 31 reported patients
- PolyneuropathyHPOHP:0001271
- 3 of 3 reported patients
Show the remaining 90
- Downturned corners of mouthHPOHP:0002714
- 15 of 18 reported patients
- Frequent (30% to 79% of cases)
- Abnormal finger morphologyHPOHP:0001167
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal toe morphologyHPOHP:0001780
- Very frequent (80% to 99% of cases)
- Abnormal toenail morphologyHPOHP:0008388
- Very frequent (80% to 99% of cases)
- Absent fingernailHPOHP:0001817
Genes
2 genes
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.
- TBC1D24HGNC:29203
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- ATP6V1B2HGNC:854
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: DOORS syndrome
- Also called
- autosomal recessive deafness-onychodystrophy syndromedeafness-onychodystrophy-osteodystrophy-intellectual disability syndromedeafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndromedeafness-onychoosteodystrophy-intellectual disability syndromedoor syndrome