Liberfarb syndrome
MONDO:0030045Mondo
Findings
No curated finding names Liberfarb 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
12 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.
- Delayed epiphyseal ossificationHPOHP:0002663
- Global developmental delayHPOHP:0001263
- Intellectual disabilityHPOHP:0001249
- Metaphyseal striationsHPOHP:0031367
- MicrocephalyHPOHP:0000252
- Optic disc pallorHPOHP:0000543
- Retinal degenerationHPOHP:0000546
- Retinal pigment epithelial mottlingHPOHP:0007814
- ScoliosisHPOHP:0002650
- Sensorineural hearing impairmentHPOHP:0000407
- Short statureHPOHP:0004322
- Spicular pigmentation of the retinaHPOHP:0007737
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.
- PISDHGNC:8999
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Moderate · Franklin by Genoox · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2019
- Limited · G2P · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: Liberfarb syndrome
- Also called
- LIBFshort stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndromespondyloepimetaphyseal dysplasia, Liberfarb Type