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AP4M1

adaptor related protein complex 4 subunit mu 1

HCNC Approved Symbol
AP4M1 (HGNC:574)
Genomic Coordinates
7:100,100,794 - 100,109,039 (7q22.1)
Synonyms
MU-ARP2, MU-4, SPG50
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the AP4M1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Seizures
 4 (40.0%)
Microcephaly
 4 (40.0%)
Intellectual disability
 3 (30.0%)
Generalized tonic-clonic seizures
 2 (20.0%)
Hydrocephalus
 2 (20.0%)
AP4M1 - Gene browser | 3billion