|
2461
|
|
|
Clavesin 1 |
C6orf212L, CRALBPL, RLBP1L1 |
|
|
2462
|
|
|
Potassium calcium-activated channel subfamily U member 1 |
KCNMC1, KCa5, KCa5.1, Kcnma3, SPGF79, Slo3 |
|
|
2463
|
|
|
Somatomedin B and thrombospondin type 1 domain containing |
C8orf84, RPESP |
|
|
2464
|
|
|
Cytochrome P450 family 4 subfamily A member 11 |
CP4Y, CYP4A2, CYP4AII, CYPIVA11 |
|
|
2465
|
|
|
Calmodulin regulated spectrin associated protein 1 |
CDCBM12 |
|
|
2466
|
|
|
Adenylosuccinate lyase |
AMPS, ASASE, ASL |
Adenylosuccinate lyase deficiency, Autism, Brachycephaly, Cerebellar atrophy, Cerebral atrophy, Developmental delay, Epileptic encephalopathy, Macrostomia, Mental retardation, Microcephaly, Myoclonic seizures, Nystagmus, Strabismus |
|
2467
|
|
|
Cytochrome P450 family 4 subfamily B member 1 |
CYPIVB1, P-450HP |
|
|
2468
|
|
|
Leucine rich repeat and Ig domain containing 2 |
LERN3, LRRN6C |
|
|
2469
|
|
|
MAM domain containing 4 |
AEGP, EDTB |
|
|
2470
|
|
|
Adenylate kinase 8 |
AK 8, C9orf98, DDX31 |
|