Kabuki syndrome 1
MONDO:0007843Mondo
Findings
No curated finding names Kabuki syndrome 1 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 · Infantile onset · Juvenile onset · Neonatal onset · Fetal onset · Childhood onset · Second trimester onset
HPO, annotations 2026-09-02
Features
161 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.
- Anteriorly placed anusHPOHP:0001545
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 3 of 3 reported patients
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Bilateral renal hypoplasiaHPOHP:0012584
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 4 of 4 reported patients
- Butterfly vertebraeHPOHP:0003316
- 1 of 1 reported patient
- Choanal atresiaHPOHP:0000453
- 8 of 8 reported patients
- CraniosynostosisHPOHP:0001363
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- 1 of 1 reported patient
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 1 of 1 reported patient
- Dimple chinHPOHP:0010751
- 1 of 1 reported patient
Show the remaining 149
- Downslanted palpebral fissuresHPOHP:0000494
- 4 of 4 reported patients
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- Finger clinodactylyHPOHP:0040019
- 10 of 10 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- High, narrow palateHPOHP:0002705
- 14 of 14 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.
- KMT2DHGNC:7133
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2010
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Kabuki syndrome 1
- Also called
- Kabuki syndrome type 1