Search
Elejalde syndrome; neuroectodermal melanolysosomal disease
Pathology:
- accumulation of melanosomes in melanocytes
Genetics:
- autosomal recessive
- mutations in myosin heavy chain 12 (myosin-Va) gene
Clinical manifestations:
- skin hypopigmentation
- presence of large clumps of pigment in hair shafts
- silvery-gray hair
- neurological abnormalities
Note: may be the same disorder as Griscelli syndrome type-1
Related
myosin heavy chain 12; myosin-Va; Dilute myosin heavy chain, non-muscle; myosin-12; myoxin (MYO5A, MYH12)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 256710
References
OMIM :accession 256710