AP-4 deficiency syndrome

MONDO:0100176

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.

Also known as: AP-4 deficiency syndrome

3 clinical trials for this condition and its sub-types, 0 tagged with AP-4 deficiency syndrome itself.

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↑ Hereditary disease (18187)

Sub-types of AP-4 deficiency syndrome

Hereditary spastic paraplegia 50 3 trials
Hereditary spastic paraplegia 47 1 trial
Hereditary spastic paraplegia 51 1 trial
Hereditary spastic paraplegia 52 1 trial

Including sub-types (3) Tagged with AP-4 deficiency syndrome (0)

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