| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Impaired pain sensat... |
DECIPHER:29 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Lower limb muscle weakness, Hand muscle atrophy, Abnormal lower motor neuron morphology, Weakness... |
OMIM:607641 |
| Spinal Muscular Atrophy, Segmental |
|
Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology, Hand muscle atrophy |
OMIM:183020 |
| Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Somatic sensory dysfunction, Truncal ataxia, Limb ataxia, Impaired proprioception, A... |
ORPHA:95434 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Amyotrophic Lateral Sclerosis 11 |
|
Somatic sensory dysfunction, Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotr... |
OMIM:612577 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Downslanted palpebral fissures, Paucity of anterior horn motor neurons, Facial diplegia, Ptosis, ... |
OMIM:611890 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Spinal muscular atrophy, Joint contracture of the hand, Abnormal lower motor neuron morphology, S... |
OMIM:611067 |
| Boucher-Neuhauser Syndrome |
|
Gait ataxia, Ataxia, Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Generalized amyotrophy, Abnormal lower motor neuron morphology, Ptosis, Deg... |
ORPHA:275872 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Skeletal muscle atrophy, Amyot... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Skeletal muscle atrophy, Amyot... |
OMIM:616437 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Decreased compound m... |
OMIM:602433 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... |
OMIM:606353 |
| Semantic Dementia |
|
Brain atrophy |
ORPHA:100069 |
| Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology, Azoospermia, Torticollis |
OMIM:613724 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower limb muscle weakness |
OMIM:614373 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Skeletal muscle ... |
OMIM:105550 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Proximal amyotrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608030 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:602099 |
| Primary Lateral Sclerosis |
|
Somatic sensory dysfunction, Cervical spinal cord atrophy, Abnormal lower motor neuron morphology... |
ORPHA:35689 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... |
OMIM:613954 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Cranial ner... |
ORPHA:52430 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Hippocampal atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy |
OMIM:617892 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration |
OMIM:610951 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Degeneration of anterior horn... |
ORPHA:1145 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Abnormal upper motor neuron morphology, Distal sensory impairment, Pares... |
OMIM:263570 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619141 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Skeletal muscle atrophy, Amyotrophic lateral sc... |
OMIM:105400 |
| Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:614808 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Retrocollis, Spasticity of facial muscles, Distal lower limb amyotrophy, Hand muscle atrophy, Ata... |
OMIM:205100 |
| Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Hypoplasia of the musculature, A... |
OMIM:253310 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Abnormal neuron ... |
ORPHA:412066 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Cerebral atrophy, Caudate atrophy |
OMIM:221770 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness |
ORPHA:2590 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Degeneration of anterior horn cells, Progressive gait ataxia, Abnor... |
ORPHA:276244 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Ptosis, Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Ataxia |
OMIM:615911 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Gait ataxia, Generalized amyotrophy, Abnormal upper motor neuron morphology, Impaired vibratory s... |
OMIM:601162 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612069 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Dysdiadochokinesis, Ataxia, Dysmetria, Cerebellar atrophy, Atrophy/Degeneration af... |
OMIM:612319 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Gait ataxia, Congenital diaphragmatic hernia, Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
| Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormality of the calf musculature, Shoulder girdle muscle weakness, Distal upper limb amyotroph... |
ORPHA:600 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Ataxia, Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular wingi... |
OMIM:614298 |
| Amyotrophic Lateral Sclerosis 8 |
|
Neuronal loss in central nervous system, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, ... |
OMIM:608627 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibration sensation at ankles, Flexion contracture, Optic atrophy, Ataxia, Impaired prop... |
OMIM:615491 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Cerebral cortical atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration |
OMIM:617672 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Limb muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619133 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Cerebral cortical atrophy, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Skele... |
OMIM:615157 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Amyotrophic lateral sclerosis |
OMIM:619132 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Brain atrophy, Joint contracture of the hand, Blep... |
OMIM:214150 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Senile plaques, Frontotemporal... |
ORPHA:100070 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Neuronal loss in central nervous system, Ptosis, Weakness of facial musculature, M... |
OMIM:616239 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Ataxia, Neuronal loss in central nervous system, Decreased nerve conduction veloci... |
OMIM:256600 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
| Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Decreased motor nerve conduction velocity, Elbow flexion ... |
ORPHA:79139 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Chorea, Lower-limb joint contracture, Retrocollis, Muscle fiber atrophy, Ataxia, Skeletal muscle ... |
ORPHA:300605 |
| Idiopathic Camptocormia |
|
Fatty replacement of skeletal muscle, Myelitis, Proximal spinal muscular atrophy, Syringomyelia, ... |
ORPHA:1320 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, Neurodegeneration, Diffuse cerebral atrophy, Optic atrophy |
OMIM:245200 |
| Ane Syndrome |
|
Alopecia, Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy |
ORPHA:157954 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Blepharospasm, Choreoathetosis, Hypomimic face, Ataxia, Neurodegeneration |
OMIM:606159 |
| Adrenoleukodystrophy |
|
Alopecia, Impaired vibration sensation at ankles, Lower limb muscle weakness, Truncal ataxia, Lim... |
OMIM:300100 |
| Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Optic atrophy, Choreoathetosis, Diffuse cerebral atrophy, Cerebr... |
ORPHA:391428 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Flexion contracture, Ataxia, Conjunctival telangiectasia, Cerebellar atrophy, Neurodegeneration |
OMIM:615919 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration |
ORPHA:478029 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Optic atrophy, Dysdiadochokinesis, Dysmetria, Cerebral atrophy, Cerebellar a... |
OMIM:610217 |
| Mucopolysaccharidosis, Type Ii |
|
Flexion contracture, Macroglossia, Cervical cord compression, Ptosis, Papilledema, Neurodegenerat... |
OMIM:309900 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Epicanthus, Long eyelashes, Ataxia, Neurodegeneration |
OMIM:618476 |
| Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypospadias, Elevated ci... |
OMIM:137920 |
| Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
| Multiple System Atrophy 1, Susceptibility To |
|
Abnormal autonomic nervous system physiology, Ataxia, Ptosis, Skeletal muscle atrophy, Orthostati... |
OMIM:146500 |
| Cerebral Visual Impairment |
|
Optic atrophy, Optic nerve hypoplasia, Central nervous system degeneration, Optic disc pallor, Ne... |
ORPHA:447788 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Rhabdomyolysis, Optic atrophy, Ataxia, Acute rhabdomyolysis, Cerebral atrophy, Neuro... |
OMIM:616878 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Left ventricular hypertrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:618321 |
| Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
| Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
| Chediak-Higashi Syndrome |
|
Ataxia, Silver-gray hair, Hypopigmentation of hair, Decreased nerve conduction velocity, Foot dor... |
OMIM:214500 |
| Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Macroglossia, Hirsutism, Coarse hair, Thick eyebrow, Neurodegeneration |
OMIM:253220 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Blepharospasm, Decreased muscle mass, Optic atrophy, Eyelid apraxia, Choreo... |
OMIM:234200 |
| Hurler Syndrome |
|
Flexion contracture, Bilateral ptosis, Macroglossia, Hirsutism, Neurodegeneration |
OMIM:607014 |
| Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Congenital posterior urethral valve, Epididy... |
OMIM:136140 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
| Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele... |
ORPHA:2044 |
| Nijmegen Breakage Syndrome |
|
Epicanthus, Conjunctival telangiectasia, Upslanted palpebral fissure, Neurodegeneration, Rhabdomy... |
OMIM:251260 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Synophrys, Broad eyebrow, Torticollis, Long palpebral fissure, Ataxia, Palpebral edema, Upslanted... |
OMIM:619475 |
| Primrose Syndrome |
|
Sparse body hair, Knee flexion contracture, Downslanted palpebral fissures, Sparse scalp hair, Fl... |
OMIM:259050 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Gait ataxia, Dysmetria, Choreoathetosis, Optic disc pallor |
OMIM:617964 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy |
ORPHA:275864 |
