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3551
|
|
|
Adhesion G protein-coupled receptor L3 |
CIRL3, CL3, LEC3, LPHN3 |
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3552
|
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|
WW and C2 domain containing 1 |
HBEBP3, HBEBP36, KIBRA, MEMRYQTL, PPP1R168 |
|
|
3553
|
|
|
ATP/GTP binding carboxypeptidase 1 |
CCP1, CONDCA, NNA1 |
Cerebellar atrophy, Colorectal cancer, Developmental delay, Developmental regression, Dysphagia, High palate, Laryngomalacia, Motor delay, Neurodegenerative disorders with cerebellar atrophy, Nystagmus, Polyneuropathy, Pontoneocerebellar hypoplasia, Respiratory failure, Sleep apnea, Strabismus |
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3554
|
|
|
IQ motif containing E |
1700028P05Rik, PAPA7 |
|
|
3555
|
|
|
Flavin containing dimethylaniline monoxygenase 4 |
FMO2 |
|
|
3556
|
|
|
F-box and WD repeat domain containing 11 |
BTRC2, BTRCP2, FBW1B, FBXW1B, Fbw11, Hos, NEDJED |
|
|
3557
|
|
|
SMG6 nonsense mediated mRNA decay factor |
C17orf31, EST1A, SMG-6, hEST1A, hSMG5/7a |
|
|
3558
|
|
|
Ankyrin repeat and sterile alpha motif domain containing 1A |
ANKS1 |
|
|
3559
|
|
|
BICD cargo adaptor 2 |
SMALED2, SMALED2A, SMALED2B, bA526D8.1 |
Arthrogryposis multiplex congenita, Cerebellar hypoplasia, Cerebral cortical atrophy, Congenital clubfoot, Developmental dysplasia of the hip, Congenital foot contraction deformities, Distal lower limb amyotrophy, Hydrocephalus, Hydrops fetalis, Hypoplasia of corpus callosum, Macrocephaly, Mental retardation, Micrognathism, Motor delay, Pachygyria, Pterygium, Respiratory failure, Scoliosis, Spinal muscular atrophy, Spinal muscular atrophy, lower extremity-predominant, Vertical talusView all (6 more) |
|
3560
|
|
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EH domain binding protein 1 |
HPC12, NACSIN |
|