|
651
|
|
|
Leucine rich repeat containing 46 |
- |
|
|
652
|
|
|
LYR motif containing 7 |
C5orf31, MC3DN8, MZM1L |
Anemia, Cerebral atrophy, Developmental delay, Developmental regression, Dysarthria, Epileptic encephalopathy, Exotropia, External ophthalmoplegia, Hypoplasia of corpus callosum, Isolated complex iii deficiency, Mental retardation, Mitochondrial complex deficiency, Nystagmus, Respiratory failure, Spastic tetraparesis |
|
653
|
|
|
Leucine rich repeat and sterile alpha motif containing 1 |
CMT2P, RIFLE, TAL |
|
|
654
|
|
|
LIM domain binding 2 |
CLIM1, LDB-2, LDB1 |
|
|
655
|
|
|
Large tumor suppressor kinase 1 |
WARTS, wts |
Anaplastic astrocytoma, Astrocytoma, Neoplasm, Carcinoma, Epithelioma, Fibrillary astrocytoma, Gemistocytic astrocytoma, Glandular neoplasms, Grade i astrocytoma, Intracranial astrocytoma, Lung adenocarcinoma, Lung carcinoma, Peritoneal mesothelioma, Oligoastrocytoma, Protoplasmic astrocytoma |
|
656
|
|
|
L3MBTL histone methyl-lysine binding protein 4 |
HsT1031 |
|
|
657
|
|
|
Lipase maturation factor 2 |
TMEM112B, TMEM153 |
|
|
658
|
|
|
LRR binding FLII interacting protein 1 |
FLAP-1, FLAP1, FLIIAP1, GCF-2, GCF2, HUFI-1, TRIP |
|
|
659
|
|
|
Leucine rich glioma inactivated 1 |
ADLTE, ADPAEF, ADPEAF, EPITEMPIN, EPT, ETL1, IB1099 |
|
|
660
|
|
|
LARGE xylosyl- and glucuronyltransferase 1 |
LARGE, MDC1D, MDDGA6, MDDGB6 |
Absence of septum pellucidum, Agenesis of corpus callosum, Agyria, Alpha-dystroglycanopathy, Anterior segment dysgenesis, Cataract, Cerebellar hypoplasia, Cerebral cortical atrophy, Cobblestone lissencephaly, Congenital coloboma of iris, Congenital contracture, Congenital hypoplasia of penis, Congenital keratoglobus, Congenital meningocele, Congenital muscular dystrophy, Congenital muscular dystrophy with intellectual disability, Congenital ocular coloboma, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Diabetic nephropathy, Dwarfism, Elbow flexion contracture, Facial paralysis, Fukuyama type congenital muscular dystrophy, Glaucoma, Glaucoma, congenital, Hemiplegia/hemiparesis, Holoprosencephaly, Horizontal nystagmus, Hydrocephalus, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Impaired cognition, Imperforate anus, Mental retardation, Limb-girdle muscular dystrophy, Liver neoplasms, Liver cancer, Macrocephaly, Macroglossia, Malformation of cortical development, Meningoencephalocele, Mental depression, Microcephaly, Microcornea, Microphthalmos, Microtia, Motor delay, Muscle eye brain disease, Muscular dystrophy, Muscular dystrophy-dystroglycanopathy, Myopathy, Myopia, Occipital encephalocele, Optic atrophy, Pachygyria, Penis agenesis, Polymicrogyria, Posteriorly rotated ear, Renal dysplasia, Respiratory failure, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Retinitis pigmentosa, Scoliosis, Specific learning disorder, Speech disorders, Strabismus, Submucosal cleft palate, Syndromic microphthalmia, Walker-warburg congenital muscular dystrophy, Walker-warburg syndromeView all (59 more) |
