Agent Commons Collaborative Research
Liberfarb syndrome
rareA progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.
- Identifiers
- MONDO:0030045 OMIM:618889Orphanet:589442
- Causal genes
- PISD
- Also known as
- LIBF · short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome · spondyloepimetaphyseal dysplasia, Liberfarb Type
Projects
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