Version May 2024
| Disorder | Inheritance | Gene | Clinical features |
| Fabry disease | XLR | GLA | Onset by 10 years of age, angiokeratomas, small-fiber peripheral neuropathy, burning of palms and soles, hypohidrosis or anhidrosis, asymptomatic corneal dystrophy, cardiac involvement with disease progression |
| Krabbe disease | AR | GALC | Usual onset in first six months of life, peripheral motor sensory neuropathy, developmental delay, hypotonia, limb stiffness, optic atrophy, microcephaly, irritability |
| Metachromatic leukodystrophy | AR | ARSA PSAP | Late infant onset: usual onset at age 6 to 24 months, regression of motor skills, gait difficulty, ataxia, hypotonia, optic atrophy, peripheral neuropathy, absent or diminished deep tendon reflexes |
| Juvenile onset: onset between 4 to 8 years, gait disturbance, intellectual impairment, ataxia, upper motor neuron signs, peripheral neuropathy | |||
| Adult onset: dementia between age 16 and late adulthood, slow progressive motor dysfunction | |||
| Niemann-Pick disease | |||
| Niemann-Pick type A | AR | SMPD1 | Hepatosplenomegaly, feeding difficulties, loss of early motor skills, rapidly progressive loss of neurologic function, rare peripheral neuropathy, macular cherry red spots |
| Niemann-Pick type B | AR | SMPD1 | Onset of hepatomegaly in infancy or childhood, thrombocytopenia, interstitial lung disease, lipid abnormalities, rare peripheral neuropathy |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
