| 1 | AP4B1, AP4DS, AP4E1, AP4S1, CPSQ5, CSPQ6 |
| Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. | |
| Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, Borck G, Ekici A, Brockschmidt FF, Nöthen MM, Munnich A, Strom TM, Reis A, Colleaux L. | |
| Am J Hum Genet 88(6):788-95. Epub 2011 May 27. 2011 | |