Muggenthaler-Chowdhury-Chioza syndrome
MONDO:0976127Mondo
Findings
No curated finding names Muggenthaler-Chowdhury-Chioza syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
77 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.
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 1 of 1 reported patient
- Accessory oral frenulumHPOHP:0000191
- 1 of 1 reported patient
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Broad halluxHPOHP:0010055
- 2 of 2 reported patients
- Broad thumbHPOHP:0011304
- 3 of 3 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Congenital diaphragmatic herniaHPOHP:0000776
- 1 of 1 reported patient
- Corneal opacityHPOHP:0007957
- 1 of 1 reported patient
- Cortical cataractHPOHP:0100019
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 5 of 5 reported patients
- Distally placed thumbHPOHP:0009622
- 1 of 1 reported patient
Show the remaining 65
- Fetal cystic hygromaHPOHP:0010878
- 2 of 2 reported patients
- Hydrops fetalisHPOHP:0001789
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 12 of 12 reported patients
- Left atrial enlargementHPOHP:0031295
- 1 of 1 reported patient
- Left ventricular dilatationHPOHP:4000141
- 1 of 1 reported patient
- Low posterior hairlineHPOHP:0002162
- 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.
- HYAL2HGNC:5321
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: Muggenthaler-Chowdhury-Chioza syndrome
- Also called
- cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndromecleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndromehyaluronidase 2 deficiency