Genes?

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: Early-onset epilepsy-intellectual disability-brain anomalies syndrome, Hyperphosphatasia with intellectual disability syndrome, Intellectual developmental disorder, Neurodevelopmental disorder, Wolf-hirschhorn syndrome

Unreviewed: Autism, Cerebellar Hypoplasia, Cerebral Atrophy, Developmental Delay, Epilepsy-Intellectual Disability-Brain Anomalies Syndrome, Hyperphosphatasia With Mental Retardation, Hypoplasia Of Corpus Callosum, Mental retardation, Seizures

Curated: Breast cancer, Estrogen-receptor negative breast cancer, Glycosylphosphatidylinositol biosynthesis defect, Scoliosis, glycosylphosphatidylinositol biosynthesis defect 17

Unreviewed: Autism, Camptodactyly of fingers, Congenital Microcephaly, Developmental Delay, Developmental disability, Epilepsy, Febrile seizures, Glycosylphosphatidylinositol deficiency, High palate, Intellectual developmental disorder, Malignant Neoplasm, Microcephaly, Neoplasms, Psychiatric disorders, Seizures, Specific Learning Disorder

Curated: N/A

Unreviewed: Alzheimer disease

Curated: Developmental disorder, Neurodevelopmental disorder, Scoliosis

Unreviewed: Breast neoplasm, Cerebellar ataxia, Cerebellar diseases, Colorectal Cancer, Colorectal neoplasm, Developmental disability, Epilepsy, Facial dysmorphism syndrome, Intellectual developmental disorder, Liver carcinoma, Lymphoma, Neoplasms

Curated: Amyotrophic lateral sclerosis, Attention deficit hyperactivity disorder, Cleft palate and bilateral cleft lip, Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development, Hyperphosphatasia with intellectual disability syndrome, Parkinson disease, Postaxial polydactyly, Zunich neuroectodermal syndrome, syndromic intellectual disability

Unreviewed: Abnormal dermatoglyphic pattern, Accessory Nipple, Amyotrophic Lateral Sclerosis, Autism, Brachycephaly, Burkitt lymphoma, Camptodactyly of fingers, Cerebral Atrophy, Cerebral cortical atrophy, CHIME syndrome, Clinodactyly, Coloboma, Congenital Atresia Of Pulmonary Valve, Congenital Camptodactyly, Congenital Epicanthus, Congenital ocular coloboma, Congenital Pectus Excavatum, Developmental Delay, Developmental disability, Esotropia, Frontal bossing, Fundus Coloboma, Hearing Loss, Hepatocellular carcinoma, High palate, Hirschsprung Disease, Hydronephrosis, Hyperkeratosis, Hyperopia, Hyperphosphatasia With Mental Retardation, Hypodontia, Hypoplasia Of Nipple, Hypotrichosis, Ichthyosis, Intellectual developmental disorder, Leukemia, Lymphoblastic Leukemia, Lymphocytic Leukemia, Macrostomia, Malocclusion, Mental Disorders, Mental retardation, Microdontia, Micrognathism, Neck Webbing, Neurocutaneous Syndromes, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Palmoplantar Keratosis, Peripheral pulmonary artery stenosis, Plagiocephaly, Ptosis, Retinal coloboma, Scoliosis, Seizure, Seizures, Skin disease, Strabismus, Tetralogy of Fallot, Transposition Of Great Vessels, Ventricular septal defect

Curated: Glycosylphosphatidylinositol biosynthesis defect, Seizures, Venous thrombosis, congenital disorder of glycosylation

Unreviewed: Absence epilepsy, Absence Seizure, CD59 Deficiency, Clonic Seizures, Epilepsy, Glycosylphosphatidylinositol Deficiency, Hepatic Vein Thrombosis, Hypercoagulability Syndrome, Hypotonic seizures, Intellectual developmental disorder, Intracranial thrombosis, Intravascular Hemolysis, Jacksonian Seizure, Macrocephaly, Paroxysmal nocturnal hemoglobinuria, Portal Hypertension, Portal Vein Thrombosis, Seizure, Splanchnic vein thrombosis, Thrombosis

Curated: Endocrine system disease, Preeclampsia, Schizophrenia, multiple congenital anomalies-hypotonia-seizures syndrome 1

Unreviewed: Absence epilepsy, Agenesis Of Corpus Callosum, Asymmetric crying face association, Atrial Septal Defect, Brachydactyly, Brain disease, Camptodactyly of fingers, Cerebellar atrophy, Cerebral Atrophy, Cerebral cortical atrophy, Choreoathetosis, Chromosomal instability, Colorectal Cancer, Colorectal neoplasm, Congenital abnormalities, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital heart septal defect, Congenital Malformation Syndrome, Congenital malrotation of intestine, Congenital megaureter, Congenital omphalocele, Cryptorchidism, Dandy-Walker Syndrome, Developmental and epileptic encephalopathy, Developmental Delay, Developmental disability, Double Ureter, Duodenal Atresia, Dyskinesia, Dysmorphic Features, Dysphagia, Ectopic anus, Epilepsy, Esotropia, Frontal bossing, Fryns Syndrome, Gastroesophageal Reflux Disease, Glycosylphosphatidylinositol Deficiency, Heart Septal Defects, High palate, Hirschsprung Disease, Hydronephrosis, Hypoplasia Of Corpus Callosum, Hypospadias, Imperforate anus, Intellectual developmental disorder, Leukemia, Lung adenocarcinoma, Macrocephaly, Macrostomia, Mental retardation, Micrognathism, Microphthalmos, Microstomia, Microtia, Miller Dieker Syndrome, Monocytic Leukemia, Movement Disorders, Multicystic renal dysplasia, Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, Myelodysplastic Syndrome, Myeloid leukemia, Nystagmus, Paget disease, Paroxysmal dystonia, Partial absence of cerebellar vermis, Patent ductus arteriosus, Patent foramen ovale, Peripheral pulmonary artery stenosis, Posteriorly Rotated Ear, Pulmonary arterial hypertension, Pulmonary Fibrosis, Pulmonary hypoplasia, Renal dysplasia, Rheumatoid arthritis, Seizures, Synophrys, Testicular Hydrocele, Tetralogy of Fallot, Van der woude syndrome, Ventricular hypertrophy, Vertical nystagmus, Vesicoureteral Reflux