| 1 | AP4DS, AP4E1 |
| Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. | |
| Moreno-De-Luca A, Helmers SL, Mao H, Burns TG, Melton AM, Schmidt KR, Fernhoff PM, Ledbetter DH, Martin CL. | |
| J Med Genet 48(2):141-4. Epub 2010 Oct 23. 2011 | |
| 2 | 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 | |