ACCES syndrome
MONDO:0859262Mondo
Findings
No curated finding names ACCES syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
23 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.
- Aplasia cutis congenita of scalpHPOHP:0007385
- 2 of 2 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Duane anomalyHPOHP:0009921
- 1 of 1 reported patient
- EctrodactylyHPOHP:0100257
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- Hip dislocationHPOHP:0002827
- 1 of 1 reported patient
- Hip dysplasiaHPOHP:0001385
- 1 of 1 reported patient
- Horseshoe kidneyHPOHP:0000085
- 1 of 1 reported patient
Show the remaining 11
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Protruding earHPOHP:0000411
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- Sparse scalp hairHPOHP:0002209
- 1 of 1 reported patient
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.
- UBA2HGNC:30661
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: ACCES syndrome
- Also called
- aplasia cutis congenita with ectrodactyly skeletal syndromeUBA2-related neurodevelopmental disorder, aplasia cutis congenita with ectrodactyly skeletal syndrome