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Laurence-Moon syndrome
rareA very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
- Identifiers
- MONDO:0009514 OMIM:245800Orphanet:2377
- Causal genes
- PNPLA6
- Part of
- Autosomal recessive diseaseCongenital hypogonadotropic hypogonadismMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
- Also known as
- LMS · LNMS
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