187844
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TBC1 domain family member 24 |
DEE16, DFNA65, DFNB86, DOORS, EIEE16, EIM, EPRPDC, FIME, TLDC6 |
Curated: Auditory neuropathy, Isolated sensorineural deafness, Nonsyndromic hearing loss, Nonsyndromic intellectual disability, Cerebellar atrophy, Congenital neurologic anomalies, Deafness, Deafness with congenital onychodystrophy, Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, Developmental and epileptic encephalopathy, Digitrenocerebral syndrome, Doors syndrome, Dysarthria, Epilepsy of infancy with migrating focal seizures, Infantile myoclonic epilepsy, Rolandic epilepsy, Focal epilepsy-intellectual disability-cerebro-cerebellar malformation, Global developmental delay, Hearing loss, Intellectual developmental disorder, Movement disorder, Nystagmus, Parkinson disease, Periodic paralysis, Progressive myoclonic epilepsy, Specific learning disability, Nonsyndromic genetic hearing loss, Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp, Deafness, autosomal recessive 86, Deafness, autosomal dominant 65
Unreviewed: Action Myoclonus-Renal Failure Syndrome, Adrenal hyperplasia, Alternating Hemiplegia, Alternating hemiplegia of childhood, Ambiguous Genitalia, Anonychia, Arrhinencephaly, Attention Deficit Hyperactivity Disorder, Autism, Brachycephaly, Brachydactyly, Brain disease, Breast Cancer, Breast Carcinoma, Camptodactyly of fingers, Cataract, Cerebral Atrophy, Cerebral palsy, Classical Hodgkin lymphoma, Colitis, Congenital adrenal hyperplasia, Congenital Clubfoot, Congenital Epicanthus, Congenital Hypothyroidism, Congenital nystagmus, Dandy-Walker Syndrome, Dentatorubral Pallidoluysian Atrophy, Developmental Delay, Developmental disability, Developmental regression, Digitorenocerebral Syndrome, DOORS Syndrome, Double Outlet Right Ventricle, Dyscognitive seizures, Dystonia, Epilepsia Partialis Continua, Epilepsy, Epilepsy, Rolandic With Paroxysmal Exercise-Induced Dystonia And Writer`S Cramp, Epileptic encephalopathy, Erythema nodosum, Febrile seizures, Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation, Frontal bossing, Gastroesophageal Reflux Disease, Gonadal Dysgenesis, Headache, Hearing Loss, Hemifacial seizures, Hemiplegia, Hereditary Leber Optic Atrophy, High palate, Horizontal nystagmus, Hydronephrosis, Inborn Errors Of Metabolism, Inclusion-Body Disease, Infantile Spasms, Inflammatory Bowel Disease, Language Disorders, Lumbar scoliosis, Malignant migrating partial seizures of infancy, Malignant Neoplasm, May-White Syndrome, Mental retardation, Microcephaly, Movement Disorders, Myoclonic Epilepsy, Myoclonic Seizures, Myopia, Nail Diseases, Nail dysplasia, Nail dystrophy, Neoplasms, Nephrocalcinosis, Nervous System Diseases, Nervous System Disorder, Neurodevelopmental Disorders, Nicolaides Baraitser Syndrome, Non-Syndromic Sensorineural Deafness, Nonconvulsive status epilepticus, Nonsyndromic Deafness, Optic Atrophy, Parkinson Disease, Periodic Paralysis, Photosensitive tonic-clonic seizures, Polymicrogyria, Polyneuropathy, Progressive Myoclonic Epilepsy With Dystonia, Proteasome-associated autoinflammatory syndrome, Psychiatric disorders, Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer`s Cramp Syndrome, Sagittal craniosynostosis, Seizure, Seizures, Sensorineural hearing loss, Sirenomelia, Spasms X-Linked, Spina bifida occulta, Status Epilepticus, Strabismus, Strawberry Nevus Of Skin, Thrombocytosis, Ulcerative colitis, Usher syndrome, Uveitis, West Syndrome, Writer`s Cramp
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