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AP-4 deficiency syndrome
A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures.
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Hereditary spastic paraplegia 50 3 trials
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Hereditary spastic paraplegia 47 1 trial
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Hereditary spastic paraplegia 51 1 trial
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Hereditary spastic paraplegia 52 1 trial