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

Notes

may be the same disorder as Griscelli syndrome type-1

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• myosin heavy chain 12; myosin-Va; Dilute myosin heavy chain, non-muscle; myosin-12; myoxin (MYO5A, MYH12)

Database

• OMIM: https://mirror.omim.org/entry/256710