Weill-Marchesani 4 syndrome, recessive
MONDO:0013176Mondo
Findings
No curated finding names Weill-Marchesani 4 syndrome, recessive 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
9 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.
- High myopiaHPOHP:0011003
- 7 of 7 reported patients
- Shallow anterior chamberHPOHP:0000594
- 6 of 7 reported patients
- Posterior synechiae of the anterior chamberHPOHP:0011484
- 5 of 7 reported patients
- Short statureHPOHP:0004322
- 5 of 7 reported patients
- Ocular hypertensionHPOHP:0007906
- 4 of 6 reported patients
- GlaucomaHPOHP:0000501
- 4 of 7 reported patients
- BrachydactylyHPOHP:0001156
- 0 of 7 reported patients
- Joint stiffnessHPOHP:0001387
- 0 of 7 reported patients
- Ectopia lentisHPOHP:0001083
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.
- ADAMTS17HGNC:17109
- Definitive · Illumina · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: Weill-Marchesani 4 syndrome, recessive
- Also called
- 15q26.3 microdeletion syndromeichthyosis-short stature-brachydactyly-microspherophakia syndromeWeill-Marchesani syndrome 4Weill-Marchesani-like syndromeWMS4