621
|
|
|
Chromosome 22 open reading frame 31 |
HS747E2A, bK747E2.1 |
|
622
|
|
|
Cilia and flagella associated protein 45 |
CCDC19, HTX11, NESG1 |
|
623
|
|
|
CDKN1A interacting zinc finger protein 1 |
LSFR1, NP94, ZNF356 |
Cerebellar atrophy, Cerebral cortical atrophy, Cervical dystonia, Developmental delay, Dysmorphic features, Dystonia, Epileptic encephalopathy, Ewing sarcoma, Mental retardation, Panic disorder, Prostatic neoplasms, Prostate cancer, Speech delay, Writer`s cramp |
624
|
|
|
Component of oligomeric golgi complex 4 |
CDG2J, COD1, SWILS |
Apraxia, Blood coagulation disorders, Cataract, Cerebral atrophy, Cirrhosis, Congenital bilateral ptosis, Congenital clubfoot, Congenital disorder of glycosylation, Congenital pectus carinatum, Congenital pectus excavatum, Developmental delay, Dwarfism, Frontal bossing, Frontotemporal cerebral atrophy, Hypercholesterolemia, Hypoplasia of corpus callosum, Isolated somatotropin deficiency, Macrocephaly, Microcephalic osteodysplastic dysplasia, Microcephaly, Micrognathism, Motor delay, Neutropenia, Nyctalopia, Nystagmus, Proptosis, Seizure, Sensorineural hearing lossView all (13 more) |
625
|
|
|
Chordin like 2 |
BNF1, CHL2 |
|
626
|
|
|
Chloride intracellular channel 4 |
CLIC4L, H1, MTCLIC, huH1, p64H1 |
|
627
|
|
|
Charged multivesicular body protein 2B |
ALS17, CHMP2.5, DMT1, FTDALS7, VPS2-2, VPS2B |
Abulia, Alexia, Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis with dementia, Anomia, Anxiety disorder, Aphasia, Apraxia, Behavioral variant of frontotemporal dementia, Brain atrophy, Broca aphasia, Cerebral atrophy, Cerebral cortical atrophy, Compulsive hoarding, Dementia, Dysarthria, Dyscalculia, Dysgraphia, Dyslexia, Dysphagia, Dysphasia, Frontotemporal cerebral atrophy, Frontotemporal dementia, Frontotemporal dementia with motor neuron disease, Grammar-specific speech disorder, Laryngospasm, Orofacial dyskinesia, Mental depression, Mood swings, Parkinson disease, Nonfluent aphasia, Progressive non-fluent aphasia, Psychosis, Respiratory failure, Seizure, Semantic dementia, Senile plaques, Stereotyped behavior, Temporal cortical atrophyView all (24 more) |
628
|
|
|
C2 domain containing 3 centriole elongation regulator |
OFD14 |
Aplasia of the epiglottis, Asphyxiating thoracic dystrophy, Atrial septal defect, Cerebellar hypoplasia, Cerebellar vermis agenesis, Coloboma of optic disc, Cryptorchidism, Dandy-walker syndrome, Developmental delay, Epispadias, Fundus coloboma, Gastrointestinal stromal tumor, Holoprosencephaly, Hypoplasia of corpus callosum, Mental retardation, Microcephaly, Mohr syndrome, Occipital encephalocele, Orofaciodigital syndrome, Patent ductus arteriosus, Penis agenesis, Periventricular nodular heterotopia, Polydactyly, Polymicrogyria, Posteriorly rotated ear, Radial polydactyly, Retinal coloboma, Retinitis, Trigonocephaly, Ventricular septal defectView all (15 more) |
629
|
|
|
Chromodomain helicase DNA binding protein 5 |
CHD-5, PMNDS |
|
630
|
|
|
Contactin associated protein 2 |
AUTS15, CASPR2, CDFE, NRXN4, PTHSL1 |
Alzheimer disease, Auditory processing disorder, Autism, Autism spectrum disorder, Bipolar disorder, Brachycephaly, Celiac disease, Cerebral cortical atrophy, Cortical dysplasia with focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome, Cryptorchidism, Dementia, Developmental delay, Dysphagia, Epilepsy, Epileptic encephalopathy, Frontal bossing, Gastroesophageal reflux disease, Glaucoma, Gluten intolerance, Mental retardation, Language development disorders, Language disorders, Lung carcinoma, Malocclusion, Mental disorders, Mental depression, Parkinson disease, Pitt-hopkins syndrome, Pitt-hopkins-like syndrome, Plagiocephaly, Precocious puberty, Psychosis, Pulmonary stenosis, Schizophrenia, Scoliosis, Seizure, Social communication disorder, Speech delay, Stammering, Stereotyped behavior, Strabismus, Stuttering, Tricuspid valve insufficiency, Ventricular septal defectView all (30 more) |