Harel-Yoon syndrome
MONDO:0014958Mondo
Findings
No curated finding names Harel-Yoon syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
47 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.
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Axial hypotoniaHPOHP:0008936
- Very frequent (80% to 99% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- Reduced brain N-acetyl aspartate level by MRSHPOHP:0012708
- 2 of 3 reported patients
- SpasticityHPOHP:0001257
- 5 of 8 reported patients
- Frequent (30% to 79% of cases)
- Lower limb amyotrophyHPOHP:0007210
- Frequent (30% to 79% of cases)
- Poor speechHPOHP:0002465
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- 4 of 8 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 35
- 3-Methylglutaconic aciduriaHPOHP:0003535
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Cerebellar atrophyHPOHP:0001272
- 3 of 8 reported patients
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
- Deeply set eyeHPOHP:0000490
- 2 of 8 reported patients
- Occasional (5% to 29% of cases)
- Delayed pubertyHPOHP:0000823
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.
- ATAD3AHGNC:25567
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · Illumina · Semidominant · 2020
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
3 names
Resolves to: Harel-Yoon syndrome
- Also called
- Harel-Yoon syndrome; HAYOSHAYOSoptic atrophy-peripheral neuropathy-developmental delay syndrome