Imagawa-Matsumoto syndrome
MONDO:0032916Mondo
Findings
No curated finding names Imagawa-Matsumoto syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
26 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.
- OvergrowthHPOHP:0001548
- 12 of 13 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 13 reported patients
- HypertelorismHPOHP:0000316
- 10 of 13 reported patients
- Accelerated skeletal maturationHPOHP:0005616
- 6 of 8 reported patients
- MacrocephalyHPOHP:0000256
- 8 of 12 reported patients
- Round faceHPOHP:0000311
- 8 of 13 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 12 reported patients
- Generalized hypotoniaHPOHP:0001290
- 6 of 11 reported patients
- Prominent foreheadHPOHP:0011220
- 7 of 13 reported patients
- CryptorchidismHPOHP:0000028
- 4 of 8 reported patients · Male
- Downslanted palpebral fissuresHPOHP:0000494
- 6 of 13 reported patients
- Prominent supraorbital ridgesHPOHP:0000336
- 5 of 13 reported patients
Show the remaining 14
- Umbilical herniaHPOHP:0001537
- 4 of 11 reported patients
- HypertrichosisHPOHP:0000998
- 3 of 11 reported patients
- Birth length greater than 97th percentileHPOHP:0003517
- 3 of 13 reported patients
- Mandibular prognathiaHPOHP:0000303
- 2 of 13 reported patients
- Melanocytic nevusHPOHP:0000995
- 2 of 13 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 8 reported patients · Congenital onset
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.
- SUZ12HGNC:17101
- Definitive · Illumina · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of