mulibrey nanism
MONDO:0009664Mondo
Findings
No curated finding names mulibrey nanism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A prenatal onset growth disorder with multiorgan manifestations.
Definition from the Mondo Disease Ontology (MONDO:0009664), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
33 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.
- Growth delayHPOHP:0001510
- 41 of 42 reported patients
- Short statureHPOHP:0004322
- 41 of 42 reported patients
- Very frequent (80% to 99% of cases)
- Triangular faceHPOHP:0000325
- 41 of 42 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 38 of 42 reported patients
- J-shaped sella turcicaHPOHP:0002680
- 38 of 42 reported patients · Fetal onset
- Very frequent (80% to 99% of cases)
- Wide noseHPOHP:0000445
- 38 of 42 reported patients
Show the remaining 21
- Intrauterine growth retardationHPOHP:0001511
- 14 of 38 reported patients · Fetal onset
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 31 of 42 reported patients
- Pericardial constrictionHPOHP:0005132
- 31 of 42 reported patients
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Nevus flammeusHPOHP:0001052
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.
- TRIM37HGNC:7523
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: mulibrey nanism
- Also called
- MULmulibrey dwarfismmuscle-liver-brain-eye nanismPerheentupa syndromepericardial constriction and growth failurepericardial constriction-growth failure syndrome