Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Abnormal autonomic nervous system physiology, Ort... |
ORPHA:441 |
Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Optic atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Abnormal autonomic nervous system physiology, Cerebral atr... |
OMIM:300894 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... |
OMIM:256600 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi... |
ORPHA:478029 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Diffuse cerebral atrophy, Optic atrophy, Neurodegeneration |
OMIM:245200 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:617672 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro... |
ORPHA:391428 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Neurodegeneration, Brain atrophy |
OMIM:214150 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Neurodegeneration |
OMIM:616239 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:615491 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:615157 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Central nervous system degeneration, In... |
ORPHA:447788 |
Adrenoleukodystrophy |
|
Hypogonadism, Primary adrenal insufficiency, Neurodegeneration |
OMIM:300100 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Premature thelarche, Optic atrophy, Cerebral atrophy, Neurodegeneration, Hypothyroidism, Prematur... |
OMIM:616878 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Neurodegeneration, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Optic atrophy, Periventricular heterotopia |
OMIM:618476 |
Gm2 Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Von Hippel-Lindau Disease |
|
Papilledema, Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma,... |
ORPHA:892 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Optic atrophy, Neurodegeneration |
OMIM:614298 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:610217 |
Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Neurodegeneration |
OMIM:309900 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration |
OMIM:606159 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Neurodegeneration, Cerebral atrophy |
OMIM:618321 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615919 |
Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Neurodegeneration |
OMIM:214500 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration |
OMIM:253220 |
Hurler Syndrome |
|
Neurodegeneration |
OMIM:607014 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Neurodegeneration, Cerebral degeneration, Optic atrophy, Global brain atrophy |
OMIM:234200 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurodegeneration, Delayed puberty |
OMIM:619475 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
Primrose Syndrome |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Neurodegeneration, Delayed puberty, Hypothyroi... |
OMIM:259050 |