Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome; Optic nerve edema-splenomegaly syndrome; ROSAH syndrome

Acronym:
ROSAH syndrome

SAID group:

Gene:
ALPK1

Inheritance:
Autosomal dominant

Ethnicity:

Frequency:

Timing of symptoms:

Age of onset:
childhood

Skin cutaneous:

Neurologic:

Auditory:

Ophthalamic:

Cardiopulmonary:

Abdominal:

Lymphatic:

Joints bones muscles cartilage:

Vasculitis:

Amyloidosis:

Abnormal labs:

Search Keywords:

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Resources:

Learn more about this disease at Orphanet under disease code 294023:

  • Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

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