|
351
|
|
|
Nemo like kinase |
- |
|
|
352
|
|
|
N-acetylneuraminate synthase |
HEL-S-100, SAS, SEMDCG, SEMDG |
|
|
353
|
|
|
Neuroligin 3 |
HNL3 |
|
|
354
|
|
|
Notchless homolog 1 |
HUSSY7, NLE, Rsa4 |
|
|
355
|
|
|
NADH:ubiquinone oxidoreductase subunit B11 |
CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3 |
Absence of septum pellucidum, Agenesis of corpus callosum, Ambiguous genitalia, Aphasia, Atresia of nasolacrimal duct, Atrial septal defect, Cardiomyopathy, Cataract, Colpocephaly, Mandibular aplasia, Congenital anomaly of rectum, Congenital coloboma of iris, Congenital diaphragmatic hernia, Congestive heart failure, Developmental delay, Diabetes mellitus, Dwarfism, Dysphasia, Epileptic encephalopathy, Epispadias, Glaucoma, Hearing loss, Heart septal defects, Histiocytoid cardiomyopathy, Hydrocephalus, Hypertrophic cardiomyopathy, Hypertrophy of clitoris, Hypoglycemia, Hypospadias, Imperforate anus, Isolated complex i deficiency, Leukodystrophy, Leukoencephalopathy, Linear skin defects with multiple congenital anomalies, Male pseudohermaphroditism, Mental retardation, Microcephaly, Micrognathism, Microphthalmia with linear skin defects syndrome, Syndromic microphthalmia, Microphthalmos, Mitochondrial complex deficiency, Mitochondrial myopathy, Mitral valve prolapse, Myopia, Nystagmus, Overriding aorta, Ovotestis, Penis agenesis, Posterior embryotoxon, Ptosis, Respiratory failure, Retinal dysplasia, Retinal dystrophy, Retinitis pigmentosa, Sclerocornea, Sideroblastic anemia, Specific learning disorder, Status epilepticus, Strabismus, Tricuspid valve insufficiency, Tricuspid valve prolapse, True hermaphroditism, Ventricular fibrillation, Ventricular septal defect, Ventricular tachycardia, VitritisView all (52 more) |
|
356
|
|
|
N-terminal EF-hand calcium binding protein 2 |
EFCBP2, stip-2 |
|
|
357
|
|
|
NudE neurodevelopment protein 1 |
HOM-TES-87, LIS4, MHAC, NDE, NUDE, NUDE1 |
Agenesis of corpus callosum, Agyria, Aortic aneurysm, Cerebellar hypoplasia, Cerebral cortical atrophy, Chorioretinal atrophy, Congenital clubfoot, Congenital microcephaly, Developmental delay, Dwarfism, Hydranencephaly, Hypoplasia of the optic nerve, Hypoplastic hippocampus, Mental retardation, Lissencephaly, Spastic diplegia, Macrotia, Microcephaly, Microhydranencephaly, Microlissencephaly, Myoclonic seizures, Myopia, Nonorganic psychosis, Pachygyria, Proptosis, Psychosis, Schizophrenia, Spastic quadriplegia, Thoracic aortic aneurysm and aortic dissection, Tricuspid valve insufficiencyView all (15 more) |
|
358
|
|
|
NOP2/Sun RNA methyltransferase 2 |
MISU, MRT5, SAKI, TRM4 |
Absence of septum pellucidum, Anemia, Asthma, Attention deficit hyperactivity disorder, Autism spectrum disorder, Autism, Blepharophimosis, Brachydactyly, Camptodactyly of fingers, Cataract, Central visual impairment, Cerebral atrophy, Congenital epicanthus, Congenital pectus excavatum, Cortical dysplasia, Craniosynostosis, Cryptorchidism, Cutis marmorata, Developmental delay, Dubowitz syndrome, Dwarfism, Dysarthria, Dyskinetic syndrome, Dyssomnia, Eczema, High palate, Hydrocephalus, Hydronephrosis, Hypoparathyroidism, Hypoplasia of corpus callosum, Hypospadias, Mental retardation, Lymphoma, Lymphoblastic leukemia, Macrostomia, Malabsorption syndrome, Mental depression, Microcephaly, Micrognathism, Motor delay, Myopia, Non-syndromic intellectual disability, Nystagmus, Polymicrogyria, Ptosis, Rectal prolapse, Salaam seizures, Scoliosis, Seizure, Sleep disorders, Spina bifida occulta, Stereotyped behavior, Strabismus, Submucosal cleft palate, Syndactyly of the toes, SynophrysView all (41 more) |
|
359
|
|
|
Non-SMC condensin II complex subunit G2 |
3KS, CAP-G2, CAPG2, LUZP5, MTB, hCAP-G2 |
Anterior segment dysgenesis, Clinodactyly, Colpocephaly, Congenital epiblepharon, Developmental delay, Dwarfism, Dysphagia, Frontal bossing, Glaucoma, congenital, Hydronephrosis, Microcephaly, Micrognathism, Nystagmus, Parkinson disease, Patent ductus arteriosus, Patent foramen ovale, Polydactyly, Renal hypoplasia, Retinitis pigmentosa, Scoliosis, Strabismus, Tricuspid valve insufficiency, Vesicoureteral refluxView all (8 more) |
|
360
|
|
|
Nuclear receptor binding SET domain protein 3 |
KMT3F, KMT3G, WHISTLE, WHSC1L1, pp14328 |
|
