Additional Disease Briefs

Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder

neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination

Also known as: 5,10-methenyltetrahydrofolate synthetase deficiency, MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome, NEDMEHM, NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION

neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

Also known as: PUM1-associated developmental disability-ataxia-seizure syndrome

neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

Also known as: NEDBEH, neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH, rere-related neurodevelopmental syndrome

neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

Also known as: NDMSBA, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

Also known as: IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome, NEDAMSS, neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome

Also known as: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome

neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion

Also known as: 9q21 microdeletion syndrome, Del(9)(q21)

neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures

Also known as: NEMMLAS, WARS2 deficiency, WARS2-related disorder, mitochondrial tryptophanyl-tRNA synthetase deficiency, neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures

neuroectodermal melanolysosomal disease

Also known as: ELEJALDE disease, Elejalde disease, neuroectodermal melanolysosomal disease