Genes?

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: Juvenile arthritis, Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Complex cortical dysplasia with other brain malformations, Cortical dysplasia with other brain malformations, Creutzfeldt-jakob disease, Vascular dementia, Developmental disability, Juvenile idiopathic arthritis, Myeloid leukemia, Neurodevelopmental disorder, Oligoarticular juvenile idiopathic arthritis, Tubulinopathy

Unreviewed: Arthritis, Arthrogryposis multiplex congenita, Brain injuries, Brain malformation, Breast neoplasm, Colorectal Cancer, Cortical Dysplasia, Cortical Dysplasia With Other Brain Malformations, Creutzfeldt-Jakob Disease, Crohn disease, Developmental Delay, Diabetes mellitus, type 2, Epilepsy, Essential tremor, Fatty Liver, Glioblastoma, Hearing Loss, Hypoplasia Of Corpus Callosum, Intellectual developmental disorder, Leukemia, Liver carcinoma, Lung carcinoma, Malformation of cortical development, Myeloid Leukemia, Nasopharyngeal carcinoma, Neuropathy, Pachygyria, Polyarthritis, Rheumatoid Factor Positive, Polymicrogyria, Seizures, Seronegative polyarthritis, Spastic Ataxia, Spinocerebellar ataxia, Still Disease, Stomach Neoplasms, Triple negative breast cancer

Curated: Carcinoma, Cerebellar ataxia, intellectual disability, and dysequilibrium, Complex cortical dysplasia with other brain malformations, Congenital fibrosis of extraocular muscles, Cortical dysplasia with other brain malformations, Dysequilibrium syndrome, Lissencephaly, Cortical development malformation, Perisylvian syndrome, Polymicrogyria, Tubulinopathy

Unreviewed: Agenesis Of Corpus Callosum, Anaplastic Carcinoma, Attention Deficit Hyperactivity Disorder, Basal ganglia disease, Beta thalassemia, Brain malformation, Cataract, Cerebellar atrophy, Cerebellar diseases, Cerebellar Hypoplasia, Cerebral palsy, Cognitive disorder, Colorectal neoplasm, Corpus callosum agenesis, Cortical Dysplasia, Cortical Dysplasia With Other Brain Malformations, Developmental Delay, Dwarfism, Dysequilibrium Syndrome, Dysgenesis of the basal ganglia, Epilepsy, Frontoparietal cortical dysplasia, Hemianopsia, Hodgkin disease, Hypoplasia Of Corpus Callosum, Impaired Cognition, Kidney neoplasm, Language development disorders, Malformation of cortical development, Mammary Neoplasms, Melanoma, Mental retardation, Microcephaly, Microlissencephaly, Motor delay, Motor skills disorder, Neuroblastoma, Neuronal Heterotopia, Oromotor apraxia, Osteoporosis, Pachygyria, Pena Shokeir syndrome, Pena-shokeir syndrome, Periventricular nodular heterotopia, Prostatic neoplasm, Renal cell carcinoma, Schizencephaly, Schizophrenia, Scoliosis, Specific Learning Disorder, Spinocerebellar ataxia, Strabismus, Tubulinopathy-Associated Dysgyria

Curated: N/A

Unreviewed: N/A

Curated: Autism, Basal cell carcinoma, Breast neoplasms, Complex cortical dysplasia with other brain malformations, Congenital brain malformation, Congenital fibrosis of extraocular muscles, Congenital hypoplasia of part of brain, Cortical dysgenesis with pontocerebellar hypoplasia, Cortical dysplasia with other brain malformations, Developmental disability, Hydranencephaly, Lissencephaly, Macrogyria, Male infertility single gene azoospermia, Martsolf syndrome, Microgyria, Neurodevelopmental disorder, Obsessive-compulsive disorder, Ovarian neoplasms, Spastic ataxia, Tubulinopathy, X-linked hydrocephalus syndrome, TUBB3-related tubulinopathy

Unreviewed: Acquired Kyphoscoliosis, Adenocarcinoma, Agenesis Of Corpus Callosum, Anaplasia, Astrocytoma, Basal ganglia disease, Benign Neoplasm, Bladder carcinoma, Bladder Neoplasm, Blepharoptosis, Brain disease, Brain injuries, Brain malformation, Brain Neoplasms, Brain stem neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Cerebellar diseases, Cerebellar Hypoplasia, Chondrosarcoma, Cobblestone Lissencephaly, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital abnormalities, Congenital Epicanthus, Congenital kyphoscoliosis, Congenital Microcephaly, Contracture, Cortical development malformation, Cortical Dysgenesis With Pontocerebellar Hypoplasia, Cortical Dysplasia, Cortical Dysplasia With Other Brain Malformations, Cubitus valgus, Demyelinating diseases, Developmental Delay, Down Syndrome, Duane retraction syndrome, Dysarthria, Dysautonomia, Dysgenesis of the hippocampus, Dystonia, Endocrine system disease, Ependymoma, Epilepsy, Epithelial ovarian carcinoma, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophagus Neoplasm, Esotropia, Ewing sarcoma, Exotropia, External Ophthalmoplegia, Extraskeletal Myxoid Chondrosarcoma, Facial dysmorphism, Facial dysmorphism syndrome, Facial nerve disorder, Facial paralysis, Fibrosis Of Extraocular Muscles, Focal Seizures, Glioblastoma, Glioma, Growth disorder, Headache, High palate, Hydrocephalus, Hyperopia, Hyperplasia, Hypoglycemia, Hypogonadism, Hypogonadotropic Hypogonadism, Hypoplasia Of Corpus Callosum, Hypoplasia of the olfactory bulb, Hypoplasia Of The Optic Nerve, Hypoxia, Idiopathic pulmonary fibrosis, Impaired Cognition, Intellectual developmental disorder, Kallmann Syndrome, Large cell carcinoma, Laryngeal dystonia, Lateral Meningocele Syndrome, Leiomyosarcoma, Limb-Mammary Syndrome, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphatic metastasis, Lymphoma, Macrocephaly, Macular corneal dystrophy, Malformation of cortical development, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Malignant Neoplasm Of Oropharynx, Mammary Neoplasms, Mantle Cell Lymphoma, Marfan Syndrome, Medulloblastoma, Melanoma, Mental retardation, Microcephaly, Micrognathism, Mobius Syndrome, Mood swings, Multiple Congenital Anomalies, Nasopharyngeal carcinoma, Neoplasms, Nervous System Diseases, Nervous System Disorder, Neuroblastoma, Neuroectodermal Tumors, Neurofibrosarcoma, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Oligodendroglioma, Ophthalmoplegia, Oropharyngeal Carcinoma, Oropharyngeal neoplasm, Osteoarthritis, Osteoporosis, Ovarian cancer, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Papillary thyroid cancer, Partial Agenesis Of Corpus Callosum, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Peritoneal Carcinoma, Pica, Plagiocephaly, Polymicrogyria, Polyneuropathy, Pontocerebellar hypoplasia, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Ptosis, Renal Carcinoma, Renal cell carcinoma, Restrictive cardiomyopathy, Restrictive External Opthalmoplegia, Sarcoma, Schizophrenia, Sensorineural hearing loss, Social Communication Disorder, Spastic Ataxia, Spastic diplegia, Spastic Quadriplegia, Squamous cell carcinoma, Stereotyped Behavior, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Thymic Carcinoma, Tooth abnormalities, Tubulinopathy-Associated Dysgyria, Urinary bladder cancer, Urinary bladder neoplasms, Uterine neoplasm, Uveal melanoma, Vocal Cord Paralysis

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: Cerebellar atrophy, Auditory neuropathy, Brown tendon sheath syndrome, Cerebral palsy, Congenital neurologic anomalies, Dystonia, Dystonia musculorum deformans, Frontotemporal dementia, Genetic torsion dystonia, Global developmental delay, Hypomyelinating leukodystrophy, Torsion dystonia, Whispering dysphonia, TUBB4A-related neurologic disorder

Unreviewed: Acquired Kyphoscoliosis, Anodontia, Atrophy, Basal ganglia disease, Blepharospasm, Brain disease, Cerebellar diseases, Chorea, Choreoathetosis, Congenital kyphoscoliosis, Cortical Dysplasia, Dementia, Demyelinating diseases, Developmental Delay, Developmental disability, Developmental regression, Dwarfism, Dysarthria, Dysphagia, Dysphonia, Epileptic encephalopathy, Glioblastoma, Henoch-Schonlein Nephritis, Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum, Impaired Cognition, Intellectual developmental disorder, Isovaleryl-CoA dehydrogenase deficiency, Laryngeal dystonia, Laryngitis, Leukodystrophy, Leukoencephalopathy, Malformation of cortical development, Melanoma, Mental Depression, Mental Disorders, Mental retardation, Metachromatic leukodystrophy, Microcephaly, Motor delay, Movement disorder, Movement Disorders, Nervous system disease, Nervous System Disorder, Neuroblastoma, Neurodegenerative Disorders, Nystagmus, Optic Atrophy, Pelizaeus-Merzbacher disease, Polymicrogyria, Prostatic neoplasm, Psychiatric disorders, Spastic paraplegia, Spastic Quadriplegia, Specific Learning Disorder, Squamous cell carcinoma, Tetraparesis

Curated: N/A

Unreviewed: N/A