PKAN NEUROAXONAL DYSTROPHY, JUVENILE-ONSET

NBIA1

HARP, FORMERLY

HARP SYNDROME, FORMERLY

HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION, FORMERLY

See more

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1

Clinically classified into classic, atypical, and intermediate phenotypes [MISCELLANEOUS]

Classic: onset in first decade, rapid progression, loss of independent ambulation within 15 years [MISCELLANEOUS]

Intermediate: onset in first decade with slow progression or onset in second decade with rapid progression [MISCELLANEOUS]

Caused by mutation in the pantothenate kinase-2 gene (PANK2, 607157.0001) [MOLECULAR BASIS]

Atypical: onset in second decade, slow progression, maintenance of independent ambulation up to 40 years later [MISCELLANEOUS]

See more

T047

20p13-p12.3

Phenotype description, molecular basis known.

234200

C0018523

607236

3

pound