Mullegama-Klein-Martinez syndrome
MONDO:0026722Mondo
Findings
No curated finding names Mullegama-Klein-Martinez syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
17 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.
- Absent stapesHPOHP:0011456
- 1 of 1 reported patient
- Apical muscular ventricular septal defectHPOHP:0011624
- 1 of 1 reported patient
- Atresia of the external auditory canalHPOHP:0000413
- 1 of 1 reported patient
- Bifid uvulaHPOHP:0000193
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Expressive language delayHPOHP:0002474
- 1 of 1 reported patient
- Facial palsyHPOHP:0010628
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Low anterior hairlineHPOHP:0000294
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- MicrotiaHPOHP:0008551
- 1 of 1 reported patient
Show the remaining 5
- Preauricular pitHPOHP:0004467
- 1 of 1 reported patient
- Preauricular skin tagHPOHP:0000384
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Sloping foreheadHPOHP:0000340
- 1 of 1 reported patient
- Submucous cleft of soft and hard palateHPOHP:0410031
- 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.
- STAG2HGNC:11355
- Definitive · G2P · X-linked · 2018
- Strong · Ambry Genetics · X-linked · 2020
- Strong · Illumina · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of