| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of the upp... |
ORPHA:65684 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... |
OMIM:618912 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction |
OMIM:612577 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Elevated circulating creatine kinase concentration, Thenar muscle atrophy, Decreased nerve conduc... |
ORPHA:352675 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Hand muscle weakness, Decreased nerve conduction velocity, Unsteady ... |
ORPHA:2932 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles |
OMIM:614373 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Broad-based gait,... |
ORPHA:435387 |
| Null Syndrome |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, CNS hypo... |
ORPHA:280234 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Distal sensory impairment, Hamm... |
OMIM:620111 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop... |
ORPHA:95434 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Decreased activity of mitochondrial complex IV, Cavitating leukodystrophy |
OMIM:619061 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Elevated circ... |
OMIM:616687 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Falls, Spinocere... |
ORPHA:412066 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased nerve conduction veloc... |
OMIM:611228 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... |
OMIM:615376 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:214400 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Distal sensory impairment, Diffi... |
OMIM:608323 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Upper limb amyotrophy, Distal sen... |
OMIM:606595 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance |
OMIM:608030 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Hand muscle weakness, Limited wrist movement, Decreased nerve c... |
ORPHA:99948 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... |
OMIM:607684 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Decreased activity of mitochondrial complex I, Optic atrophy, Leukodystrophy |
OMIM:616370 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Waddling gait, Small hypothenar eminence, Hypoesthesia... |
OMIM:609311 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... |
OMIM:605253 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance |
ORPHA:101078 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Hammertoe, Steppa... |
OMIM:610100 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrophy, Gait disturbance, Abnormal... |
ORPHA:101075 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Th... |
ORPHA:139536 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Extremely elevated creatine kinase, Somatic sensory dysfunction, Decreased nerve conduction veloc... |
ORPHA:99939 |
| Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct... |
ORPHA:3115 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Spastic gait |
OMIM:611637 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Rocker bottom foot, Single transverse palmar crease, Pauc... |
OMIM:611890 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:302801 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Sensory ataxia, Gait distur... |
ORPHA:101081 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Hand muscle weakness, Tre... |
ORPHA:101077 |
| Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells, Loss of ambulation, Shoulder girdle muscle weakness, Hand tr... |
OMIM:253400 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... |
ORPHA:276435 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Dystonia |
OMIM:300857 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Axonal degeneration, Hand tremor, Distal sensory impairment, Degeneration of ante... |
OMIM:604484 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Impaired vibratory sensation, Atax... |
OMIM:607250 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance |
ORPHA:247604 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... |
OMIM:616040 |
| Primary Lateral Sclerosis, Juvenile |
|
Decreased compound muscle action potential amplitude, Cerebral cortical atrophy, Abnormal upper m... |
OMIM:606353 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Areflexia of upper limbs, Decreased nerve conduction velocity, Axonal degeneration, Upper limb am... |
ORPHA:90103 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Proximal muscle weakness in upper limbs, Hand muscle weakness, Decr... |
ORPHA:101097 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Facial palsy, Tremor, Degeneration of anterio... |
OMIM:159950 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased distal sensory... |
ORPHA:99953 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Cryptorchidism, Optic atrophy, Cerebral a... |
ORPHA:457205 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Optic atrophy, Distal sensory impairment, Hamm... |
OMIM:609260 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Talipes equinovarus, Difficulty walking, J... |
OMIM:611067 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... |
OMIM:162500 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... |
ORPHA:99950 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory... |
ORPHA:600 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Bra... |
OMIM:615284 |
| Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Hammertoe, Difficulty walking, Distal sensory impairment |
OMIM:600361 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment, Hammertoe, St... |
OMIM:118210 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormality of somatosensory evoked potentials, Abnormal motor evoked potentials, Abnormal audito... |
ORPHA:320401 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conductio... |
OMIM:618404 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Weakness of the intrinsic hand muscles, Triceps weakne... |
OMIM:615575 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... |
OMIM:118300 |
| Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness |
OMIM:607641 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late... |
OMIM:613954 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:613435 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude, Difficulty walking, Thenar muscle atrophy |
OMIM:619112 |
| Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Ataxia, Tremor |
ORPHA:1368 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination |
ORPHA:431329 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Hand muscle weakness, Impaired proprioc... |
ORPHA:101085 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Axonal degeneration, Impaired distal vibration sensati... |
OMIM:614436 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Postural tremor, Thenar muscle atrophy, Impaired dista... |
OMIM:270685 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Decreased dis... |
OMIM:607706 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Cryptorchidism, Decreased compo... |
OMIM:301830 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201910 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Decreased nerve conduction velocity, Gait disturbance, Distal sensory impair... |
ORPHA:99944 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... |
ORPHA:100998 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
| Amyotrophic Lateral Sclerosis 8 |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Postu... |
OMIM:608627 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Hand tremor |
OMIM:253550 |
| Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Impaired vibratio... |
OMIM:159550 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Decreased activity of the pyruvate dehydrogenase complex, Optic atrophy, Leukodystrophy |
OMIM:616859 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista... |
OMIM:613641 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase conc... |
OMIM:618138 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Gener... |
OMIM:205100 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Upper limb postural tremor, Gait ataxia, Distal sensor... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased amplitude of sensory acti... |
OMIM:608673 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Azoospermia... |
OMIM:613724 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy |
OMIM:617892 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616437 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Ataxia, Cerebral cortical atrophy |
ORPHA:1188 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased compound muscle... |
OMIM:600882 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, Sensory ataxia |
OMIM:618184 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Frontotemporal cerebral atrophy, Difficulty walking, Gait disturbance, Abnormality of peripheral ... |
ORPHA:101001 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude |
OMIM:605726 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Talipes equinovarus, Cereb... |
OMIM:607596 |
| Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:302802 |
| Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... |
OMIM:601455 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Hammertoe, Gait disturbance, Impaired distal tac... |
OMIM:618400 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Distal sensory impairment, Distal... |
OMIM:605285 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Leukodystrophy, CNS hypomyelination |
OMIM:610532 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Decreased nerve conduction velocity, Ulnar deviation of fing... |
ORPHA:2928 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Ataxia, Impaired distal proprioception, Split hand, Im... |
OMIM:616688 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Optic atrophy, Gait disturbance, Abnormal nerve conducti... |
ORPHA:99014 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration,... |
ORPHA:52430 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Hammertoe, Step... |
OMIM:604563 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Tremor, Axon... |
OMIM:302800 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Distal sensory impairment, Gait disturbance, Paresthesia, Abnormal upper... |
OMIM:263570 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma... |
ORPHA:275872 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n... |
OMIM:105550 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Abnormal spinal cord morpholo... |
ORPHA:139578 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
| Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Optic atrophy, Abnormal mitoc... |
ORPHA:99013 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Broad-based gait, Intrinsic hand muscle atrophy, Gait ... |
OMIM:614895 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Head titubation, Inability to wa... |
ORPHA:300605 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Gait dist... |
OMIM:603472 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Hammertoe, Distal sensory impairment |
OMIM:613287 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
| Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity, Ataxia |
OMIM:183050 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Optic atrophy, Impaired proprioception, Dy... |
ORPHA:98755 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, CNS demyelination, Peripheral demyelination |
OMIM:249900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:605588 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Abolished vib... |
OMIM:620068 |
| Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells, Waddling gait, Hand tremor |
OMIM:271150 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:619279 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Choreoathetosis, Dystonia |
OMIM:614932 |
| Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Optic atrophy, Abnormal mitochondrial morpholog... |
OMIM:300438 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination |
ORPHA:88637 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Tapered finger, Decreased nerve conduction velocity, L... |
OMIM:218000 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Broad-based gait, Split hand, Impaired distal vibratio... |
OMIM:145900 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Hammertoe, Step... |
OMIM:118220 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... |
ORPHA:90117 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ce... |
OMIM:256600 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Hyperextensibility of the finger joints, Ataxia, Decreased nerve conduction v... |
OMIM:618356 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Cerebral cortical atrophy |
OMIM:615911 |
| Combined Oxidative Phosphorylation Deficiency 43 |
|
Decreased activity of mitochondrial complex I, Delayed CNS myelination, Decreased activity of mit... |
OMIM:618851 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Decreased nerve conduction velocity, Dysmetria, Hyperammonemia, Hyp... |
OMIM:238970 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Abnormality of the hand, Cerebral atrophy, EEG abnormality, Gait disturbance, Ab... |
OMIM:221770 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... |
OMIM:619519 |
| Pontocerebellar Hypoplasia Type 1 |
|
Degeneration of anterior horn cells, Optic atrophy, Ataxia, Cerebral cortical atrophy |
ORPHA:2254 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Dysmetria, Distal... |
OMIM:612674 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Decreased sensory nerve conduction velocity, ... |
OMIM:609033 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Inability t... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi... |
OMIM:618279 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Facial palsy, Demyelinating motor neuropathy, Optic at... |
OMIM:608804 |
| Developmental And Epileptic Encephalopathy 5 |
|
Hypsarrhythmia, CNS hypomyelination |
OMIM:613477 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... |
ORPHA:983 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
| Acromicric Dysplasia |
|
Short metacarpal, Decreased nerve conduction velocity, Small hand, Abnormal femur morphology, Sho... |
ORPHA:969 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Split hand, Distal sensory impairment, Hammertoe, Step... |
OMIM:118200 |
| Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Impai... |
OMIM:164400 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Leukodystrophy, CNS hypomyelination |
OMIM:616494 |
| Friedreich Ataxia |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Inability to walk, Chorea, Optic ... |
ORPHA:95 |
| Folinic Acid-Responsive Seizures |
|
Delayed myelination, Optic atrophy, Multifocal epileptiform discharges, Hypsarrhythmia, Cerebral ... |
ORPHA:79097 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
EEG abnormality, Delayed CNS myelination, CNS hypomyelination |
OMIM:616577 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Distal sensory impairment |
OMIM:608895 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Difficulty walking |
ORPHA:2590 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, Optic atrophy, EEG abnormality, CNS demyelination, Periphera... |
OMIM:245200 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Swan neck-like deformities... |
OMIM:270550 |
| Lissencephaly 8 |
|
Optic atrophy, Cerebral hypomyelination, Polymicrogyria, Agyria, Type II lissencephaly |
OMIM:617255 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Delayed myelination, Mitochondrial respiratory chain defects |
ORPHA:319514 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hand muscle weakness, Decreased nerve conduction velocity, Inability to walk... |
ORPHA:90658 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral hypomyelination, Optic atrophy, CNS hypomyelination |
ORPHA:369939 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... |
ORPHA:755 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... |
ORPHA:35689 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Decreased nerve conduction velocity, Axonal degeneration, Degeneration o... |
OMIM:604320 |
| Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, EEG with burst suppression, Simplified gyral pattern |
OMIM:618328 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat... |
ORPHA:88628 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Atrophy of the spinal cord, Decreased circulating apol... |
OMIM:256840 |
| Developmental And Epileptic Encephalopathy 93 |
|
Optic atrophy, Hypsarrhythmia, CNS hypomyelination |
OMIM:618012 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity |
OMIM:607831 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Gait ataxia, Pro... |
OMIM:603516 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Corpus callosum atrophy, Decreased nerve conduction velocity, Cryptorchidism, ... |
ORPHA:565624 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Wild Type Abeta2M Amyloidosis |
|
Decreased nerve conduction velocity, Dysesthesia, Paresthesia, Abnormality of the thenar eminence... |
ORPHA:85446 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Decreased mitochondrial number, Gait disturbance, Diffic... |
ORPHA:352470 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... |
OMIM:614298 |
| Cednik Syndrome |
|
Ataxia, Diffuse palmoplantar hyperkeratosis, Optic atrophy, Pachygyria, Polymicrogyria, Abnormali... |
ORPHA:66631 |
| Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination |
OMIM:618910 |
| Alg2-Cdg |
|
Cerebral hypomyelination, Hypsarrhythmia |
ORPHA:79326 |
| Developmental And Epileptic Encephalopathy 4 |
|
Cerebral hypomyelination, Delayed CNS myelination, EEG with burst suppression, Hypsarrhythmia |
OMIM:612164 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Leukodystrophy, CNS hypomyelination |
OMIM:617560 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral hypomyelination, Optic atrophy |
OMIM:300475 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Elevated hemoglobin A1c, Cerebral ... |
OMIM:616192 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Optic atrophy, Hypsarrhythmia, CNS hypomyelination |
OMIM:618437 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Polymicrogyria, Lissencephaly, CNS hypomyelination |
OMIM:614883 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, Optic atrop... |
ORPHA:485421 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Resting tremor, Corpus callosum atrophy, Spastic gait, Gait ataxia,... |
OMIM:601162 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
CNS hypomyelination |
OMIM:619688 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Interphalangeal joint contracture of finger, Cryptorchidi... |
ORPHA:1145 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Broad-based gait, Inability to walk, Axonal degenerati... |
OMIM:615490 |
| Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Sandal gap, Decreased nerve conduction velocity, Unsteady gait, Gait ataxia, Di... |
OMIM:616652 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Ataxia, Chorea, Split hand, Axonal degeneration, Cereb... |
OMIM:604168 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Decreased nerve conduction velocity, Tremor, Intrinsic hand muscle atrophy, Fac... |
ORPHA:329478 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit... |
OMIM:500013 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor, CNS hypomyelination |
OMIM:619328 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... |
ORPHA:90790 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Dysmetria, Paresthesia, Cerebral cortical atrophy, Abnormality o... |
ORPHA:48431 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Degeneration of anterior horn cells, ... |
ORPHA:276244 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Simplified gyral pattern, CNS hypomyelination |
OMIM:615760 |
| Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Gait apraxia, EEG with focal sharp waves, Optic atrophy, Dysmetri... |
OMIM:617302 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Op... |
OMIM:616239 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Mitochondrial swelling, Tremor, Mildly elevated creatine kinase |
ORPHA:397744 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Cerebral hypomyelination, CNS demyelination, Optic atrophy |
OMIM:603896 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Optic disc pallor, CNS hypomyelination |
OMIM:615281 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Hand muscle weakn... |
ORPHA:101076 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperp... |
ORPHA:96181 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Optic atrophy, Leukodystrophy, CNS hypomyelination |
OMIM:617951 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Leukodystrophy, CNS hypomyelination |
ORPHA:527497 |
| Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination |
OMIM:618559 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Facial diplegia, CNS hypomyelination |
OMIM:618186 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Autoamputation of digits, Impaired pain sensation, Dys... |
OMIM:613640 |
| Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, EEG abnormality, Gait disturbance |
ORPHA:812 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Leukodystrophy, CNS hypomyelination |
OMIM:607694 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia, Elevated circulating creatine kinase concentration |
ORPHA:1933 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Decreased serum estradi... |
OMIM:618117 |
| Developmental And Epileptic Encephalopathy 78 |
|
CNS hypomyelination |
OMIM:618557 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Delayed myelination, Pachygyria, Leukodystrophy |
OMIM:617613 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Delayed CNS myelination, Abnormal auditory evoked potentials, CNS hypomyelination |
OMIM:619260 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Leukodystrophy |
OMIM:619851 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Elevated circulating creatine kina... |
OMIM:606002 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Decreased compou... |
OMIM:603511 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:616158 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Autonomic bladder dysfunction, Optic atrophy, Leukodystrophy, CNS hypomyelination |
ORPHA:447896 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Impaired distal proprioception, Hand tremor, Distal se... |
OMIM:162400 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Optic atrophy, Impaired proprioception, Limb ataxia, Gait a... |
OMIM:229300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebral hypomyelination, Optic atrophy, Leukodystrophy |
OMIM:612438 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
| Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Facial palsy, Abnorm... |
OMIM:614399 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... |
OMIM:219080 |
| Giant Axonal Neuropathy |
|
Facial palsy, CNS hypomyelination |
ORPHA:643 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... |
OMIM:201300 |
| Kaya-Barakat-Masson Syndrome |
|
CNS hypomyelination |
OMIM:619125 |
| Microcephaly-Capillary Malformation Syndrome |
|
Delayed myelination, Optic atrophy, Simplified gyral pattern, CNS hypomyelination |
OMIM:614261 |
| Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Simplified gyral pattern, CNS hypomyelination |
OMIM:619286 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Gait disturbance, Dystonia |
OMIM:250100 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development |
OMIM:618078 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... |
OMIM:619151 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebral hypomyelination, Optic atrophy, Leukodystrophy, CNS hypomyelination |
OMIM:614381 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, CNS hypomyelination |
OMIM:619908 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
| Ane Syndrome |
|
Motor neuron atrophy, Ulnar deviation of the hand |
ORPHA:157954 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Broad-based gait, Sandal gap, Decreased nerve conduction velocity, 2-3 toe syndactyly, Distal sen... |
ORPHA:477817 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp... |
OMIM:615830 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Hypouricemia, Optic atrophy, Spinal cord poste... |
ORPHA:1187 |
| Pelizaeus-Merzbacher Disease |
|
Cerebral dysmyelination, Sudanophilic leukodystrophy, Optic atrophy, CNS hypomyelination, Abnorma... |
OMIM:312080 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:620023 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Cerebral hypomyelination, EEG with abnormally slow frequencies, Abnormality of somatosensory evok... |
ORPHA:280219 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Pachygyria, Simplified gyral pattern, CNS hypomyelination |
OMIM:615966 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis |
OMIM:611812 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Decreased circulating gonadotropin con... |
OMIM:614841 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Pachygyria, Optic atrophy, Leukodystrophy, CNS hypomyelination |
OMIM:619576 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal femur morpho... |
ORPHA:909 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Cerebral atrop... |
ORPHA:1320 |
| Hereditary Methemoglobinemia |
|
Cerebral hypomyelination, Delayed myelination |
ORPHA:621 |
| Ovarian Dysgenesis 9 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... |
OMIM:619665 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
| Spastic Paraplegia 44, Autosomal Recessive |
|
CNS hypomyelination |
OMIM:613206 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
| Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... |
ORPHA:251274 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Leukodystrophy, CNS hypomyelination |
OMIM:616420 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Decreased serum estradiol, Elevated circulating follicle stimulating ho... |
OMIM:617690 |
| Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Periventricular heterotopia, Decreased nerve ... |
OMIM:618733 |
| Ddost-Cdg |
|
CNS hypomyelination |
ORPHA:300536 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Leukodystrophy |
OMIM:614561 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Tip-toe... |
ORPHA:309256 |
| 4H Leukodystrophy |
|
Cerebral hypomyelination, Optic atrophy |
ORPHA:289494 |
| Orofaciodigital Syndrome Xvii |
|
CNS hypomyelination |
OMIM:617926 |
| Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Decreased motor nerve conduction velocity, Hy... |
ORPHA:79139 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Delayed puberty |
OMIM:300510 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... |
OMIM:243000 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... |
OMIM:615954 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
| Hydatidiform Mole |
|
Hyperthyroidism, Enlarged uterus, Anemia |
ORPHA:99927 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Hand muscle weakness, Tremor, Tongue tremor, Impaired vibratory sensation, Proximal muscle weakne... |
ORPHA:466768 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Decreased activity of mitochondrial complex I, CNS demyelination, Optic atrophy |
OMIM:618237 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
ORPHA:298 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Camptodactyly of finger, Impaired pain sensation |
ORPHA:2926 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Simplified gyral pattern, CNS hypomyelination |
OMIM:618622 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Leukodystrophy |
OMIM:619196 |
| Gaba-Transaminase Deficiency |
|
EEG with burst suppression, Leukodystrophy |
OMIM:613163 |
| Huppke-Brendel Syndrome |
|
CNS hypomyelination |
OMIM:614482 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Cerebral hypomyelination, Delayed myelination, Optic atrophy, Abnormal autonomic nervous system p... |
OMIM:616683 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Decreased activity of mitochondrial complex I, Leukodystrophy |
OMIM:618242 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
| Multifocal Motor Neuropathy |
|
Weakness of long finger extensor muscles, Motor conduction block, Limited wrist extension |
ORPHA:641 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Warburg Micro Syndrome 4 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Decreased testicular size, Cryptor... |
OMIM:615663 |
| Glutamine Deficiency, Congenital |
|
CNS hypomyelination |
OMIM:610015 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... |
OMIM:614575 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Ataxia, Optic atrophy... |
ORPHA:543470 |
| Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Cerebral a... |
ORPHA:412217 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Impaired pain sensation, Inability... |
ORPHA:99949 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Delayed myelination, Pachygyria, CNS hypomyelination |
OMIM:614922 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... |
ORPHA:36386 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Tremor, Dysmetria |
OMIM:615578 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axial dys... |
OMIM:619026 |
| Premature Ovarian Failure 18 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... |
OMIM:619203 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Mitochondrial hypertrophy, Facial palsy, Elevated circulating creatine kinase conc... |
OMIM:602541 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
CNS hypomyelination, Severe demyelination of the white matter |
ORPHA:481152 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Cerebral dysmyelination, Short-segmen... |
OMIM:609136 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells, Arachnodactyly, Rocker bottom foot |
OMIM:271225 |
| Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... |
ORPHA:231580 |
| Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Difficulty w... |
ORPHA:309271 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Cryptorchidism, Optic atrophy |
OMIM:615419 |
| Leukodystrophy, Childhood-Onset, Remitting |
|
Leukodystrophy |
OMIM:619864 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Dystonia, Intention ... |
ORPHA:309263 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... |
ORPHA:289548 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ulnar dev... |
ORPHA:456312 |
| Retinal Dystrophy With Leukodystrophy |
|
CNS hypomyelination |
OMIM:618863 |
| Adenylosuccinase Deficiency |
|
Cerebral hypomyelination, CNS hypomyelination |
OMIM:103050 |
| Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Single transverse palmar crease, Decreased nerve conduction velocity, Optic atrophy, Gait... |
OMIM:614863 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:369929 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Optic atrophy, Gait disturbance, Abnormal autonomic ne... |
ORPHA:35069 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... |
ORPHA:168558 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
| Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Hyponatremia, Somatic sensory dysfunction, Hypertriglyceridemia, Ataxia, Decr... |
ORPHA:167 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
| Combined Saposin Deficiency |
|
CNS demyelination, Optic atrophy |
OMIM:611721 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
| Chediak-Higashi Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Gait disturbance, Neurodegeneration |
OMIM:214500 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Leukodystrophy, Hypsarrhythmia |
OMIM:618006 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, CNS hypomyelination |
OMIM:618527 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Macrogyria, Abnormal myelination |
ORPHA:280210 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Optic atrophy, Decreased nerve conduction velocity, Ataxia |
OMIM:610651 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, EEG with burst suppression, Elevated circulating creatine ki... |
OMIM:615368 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Interictal epileptiform activity, CNS hypomyelination |
OMIM:618922 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude |
OMIM:618323 |
| Developmental And Epileptic Encephalopathy 29 |
|
CNS hypomyelination |
OMIM:616339 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
CNS demyelination, EEG abnormality |
OMIM:618193 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
CNS hypomyelination |
ORPHA:280229 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
EEG abnormality, Cerebral hypomyelination, Hypsarrhythmia, EEG with frontal sharp slow waves |
ORPHA:457351 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland agenesis, Va... |
OMIM:273395 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Retractile testis, Optic atrophy, CNS hypomyelination |
OMIM:617193 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Decreased activity of mitochondrial complex II, Leukodystrophy, Decreased activity... |
OMIM:615330 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Decreased activity of mitochondrial respiratory chain, Optic atrophy, Decreased activity of mitoc... |
OMIM:614299 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:614842 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturbance, Dystonia |
ORPHA:512 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Polymicrogyria, Optic atrophy, Leukodystrophy, CNS hypomyelination |
OMIM:619708 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
CNS hypomyelination |
OMIM:619423 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
CNS demyelination, Optic atrophy, Leukodystrophy |
OMIM:264470 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Delayed myelination, CNS hypomyelination |
ORPHA:88618 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:619580 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Cerebral hypomyelination |
OMIM:612949 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebral hypomyelination, Delayed CNS myelination, EEG with generalized slow activity, CNS hypomy... |
OMIM:618367 |
| Sandhoff Disease, Infantile Form |
|
CNS hypomyelination |
ORPHA:309155 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebral hypomyelination |
ORPHA:438114 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Frontotemporal cerebral atroph... |
ORPHA:100070 |
| Sandhoff Disease |
|
Orthostatic hypotension, CNS hypomyelination |
OMIM:268800 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
EEG abnormality, CNS hypomyelination |
OMIM:614501 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Cerebral hypomyelination, EEG with spike-wave complexes, Agang... |
ORPHA:247262 |
| Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93476 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Decreased activity of mitochondrial complex I, Leukodystrophy |
OMIM:618225 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Leukodystrophy, Decreased activity of mitochondrial complex II |
OMIM:619224 |
| D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Corpus callosum atrophy, Decreased nerve conduction velocity, Split hand, Ham... |
OMIM:261515 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ... |
OMIM:615363 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Decreased activity of the pyruvate dehydrogenase complex, Optic atrophy, Leukodystrophy |
ORPHA:401866 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Wilson Disease |
|
Limb dystonia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Decreased nerve c... |
OMIM:277900 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction veloc... |
OMIM:216400 |
| Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Ataxia, Mitoch... |
OMIM:601992 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Delayed CNS myelination, Optic atrophy, Leukodystrophy |
OMIM:618688 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration |
OMIM:619518 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
EEG abnormality, CNS hypomyelination |
OMIM:615356 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Sudanophilic leukodystrophy, Leukodystrophy, EEG abnormality |
OMIM:260600 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology, Gait disturbance, Talipes equinovarus |
OMIM:302060 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, CNS hypomyelination |
OMIM:614230 |
| Marbach-Rustad Progeroid Syndrome |
|
CNS hypomyelination |
OMIM:619322 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Decreased serum estradiol, Decreased circulating androgen concentration... |
ORPHA:90796 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Abnormal CNS myelination |
OMIM:612951 |
| Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Short femur, Abnormal mitochondrial shape, Unsteady gait, ... |
ORPHA:17 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology |
OMIM:236680 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Decr... |
OMIM:615300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Decreased activity of mitochondrial complex I, Optic atrophy, Leukodystrophy |
OMIM:618226 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... |
ORPHA:99956 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral hypomyelination, Delayed myelination, Abnormal cortical gyration |
ORPHA:79351 |
| Cockayne Syndrome B |
|
Ataxia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Cryptorchidism,... |
OMIM:133540 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Decreased plasma free carnitine, Delayed CNS myelination, Optic atrophy, Leukodystrophy |
OMIM:616034 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Optic atrophy, Distal sensory impairment, Talipes equinovarus, Decreased sensor... |
ORPHA:320375 |
| Cockayne Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Decreased nerve condu... |
ORPHA:191 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Abnormal CNS myelination |
ORPHA:521390 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Decreased mitochondrial number, Elevated circulating creatine kinase concentr... |
ORPHA:352447 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Tremor, Cryptorchidism, Optic atrophy, Gait disturba... |
ORPHA:90321 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Abnormal CNS myelination |
OMIM:611555 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Delayed CNS myelination, Leukodystrophy |
OMIM:617964 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Impaired propriocep... |
ORPHA:79138 |
| Canavan Disease |
|
CNS demyelination, Optic atrophy, Multifocal epileptiform discharges, Hypsarrhythmia |
OMIM:271900 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Premature ... |
ORPHA:90794 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral hypomyelination, Optic atrophy |
ORPHA:496641 |
| Fucosidosis |
|
CNS hypomyelination |
OMIM:230000 |
| Spinocerebellar Ataxia 23 |
|
CNS demyelination |
OMIM:610245 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Increased serum t... |
ORPHA:247768 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Delayed CNS myelination, Optic atrophy, Leukodyst... |
OMIM:616881 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Single transverse palmar crease, Elevated circulating alpha-fetoprotein conce... |
OMIM:615273 |
| Poliomyelitis |
|
Inability to walk, Abnormal motor nerve conduction velocity, Paresthesia, Myelitis |
ORPHA:2912 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619306 |
| Dpagt1-Cdg |
|
Optic atrophy, Hypsarrhythmia, CNS hypomyelination, Diffuse optic disc pallor, EEG with generaliz... |
ORPHA:86309 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Abnormal CNS myelination |
ORPHA:477673 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Agyria, EEG with focal spike waves, Polymicrogyria, Leukodystrophy |
ORPHA:370997 |
| Pyruvate Carboxylase Deficiency |
|
Delayed myelination, CNS hypomyelination |
ORPHA:3008 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Symmetric peripheral demyelination, Autonomic bladder dysfunction, Leukodystrophy, Autonomic erec... |
OMIM:169500 |
| Dermatoleukodystrophy |
|
Leukodystrophy |
OMIM:221790 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Delayed CNS myelination |
OMIM:618832 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Leukodystrophy |
OMIM:617916 |
| Aicardi-Goutieres Syndrome 6 |
|
Leukodystrophy |
OMIM:615010 |
| Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:300523 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
| Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93474 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Le... |
ORPHA:444013 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... |
OMIM:137920 |
| Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Hydrocephalus, Optic atrophy, Broad thumb, Abnormality of peripheral nerve ... |
ORPHA:585 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Central hypothyroidism |
OMIM:614851 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
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Decreased activity of the pyruvate dehydrogenase complex, Leukodystrophy |
OMIM:614462 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
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Small thenar eminence, Scapular winging, Decreased compound muscle action potential amplitude |
OMIM:620080 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:620269 |
| Frontal Encephalocele |
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Leukodystrophy |
ORPHA:1931 |
| Multiple Sclerosis, Susceptibility To |
|
CNS demyelination |
OMIM:126200 |
| Orofaciodigital Syndrome Xiv |
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Periventricular heterotopia, Cryptorchidism, Optic disc coloboma, Simplified gyral pattern, CNS h... |
OMIM:615948 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
| Combined Oxidative Phosphorylation Deficiency 19 |
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Mitochondrial swelling |
OMIM:615595 |
| Waardenburg Syndrome, Type 4A |
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Aganglionic megacolon, Leukodystrophy |
OMIM:277580 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Cerebral hypomyelination, Hypsarrhythmia |
ORPHA:447997 |
| Fumarase Deficiency |
|
Optic atrophy, Cerebral atrophy, Lissencephaly, Hyperbilirubinemia, Mitochondrial swelling, Polym... |
OMIM:606812 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Cryptorchidism, CNS hypomyelination |
ORPHA:268261 |
| Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Papilledema, Spinal cord compression, Decreased nerve conduction vel... |
ORPHA:580 |
| Hurler Syndrome |
|
Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, Abnormal diaphysis morphology, ... |
ORPHA:93473 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number, Shoulder girdle muscle weakness, Abnormal circulating creatine ki... |
ORPHA:263297 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
CNS demyelination |
OMIM:221820 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Delayed CNS myelination, Decreased activity of mitochondrial complex IV, Decreased activity of mi... |
OMIM:615471 |
| Woodhouse-Sakati Syndrome |
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Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
| Waardenburg Syndrome, Type 2E |
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Cerebral hypomyelination |
OMIM:611584 |
| Hengel-Maroofian-Schols Syndrome |
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Abnormal CNS myelination |
OMIM:619641 |
| Cerebrooculofacioskeletal Syndrome 1 |
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CNS demyelination, Delayed myelination, Cryptorchidism |
OMIM:214150 |
| Peroxisome Biogenesis Disorder 8B |
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Optic atrophy, Peripheral demyelination, Leukodystrophy |
OMIM:614877 |
| Adult Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, CNS demyelination, Peripheral demyelination, EEG ... |
ORPHA:206448 |
| Oeis Complex |
|
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Trigeminal Neuralgia |
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CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
| Schilder Disease |
|
CNS demyelination |
ORPHA:59298 |
| Aicardi-Goutieres Syndrome 4 |
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Leukodystrophy |
OMIM:610333 |
| Popliteal Pterygium Syndrome |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Aicardi-Goutieres Syndrome 5 |
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Leukodystrophy |
OMIM:612952 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Polymicrogyria, Leukodystrophy |
OMIM:610678 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
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Leukodystrophy, Decreased circulating carnitine concentration |
ORPHA:431361 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
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CNS demyelination, Delayed CNS myelination |
OMIM:619653 |
| Abetalipoproteinemia |
|
CNS demyelination, Peripheral demyelination |
OMIM:200100 |
| Sjogren-Larsson Syndrome |
|
CNS demyelination |
OMIM:270200 |
| Leukodystrophy, Hypomyelinating, 4 |
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Leukodystrophy |
OMIM:612233 |
| Wiedemann-Rautenstrauch Syndrome |
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Cryptorchidism, Optic atrophy, CNS hypomyelination, Leukodystrophy, Polymicrogyria |
ORPHA:3455 |
| Leigh Syndrome |
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CNS demyelination, Optic atrophy |
OMIM:256000 |
| Doors Syndrome |
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Ambiguous genitalia, Thrombocytosis, Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
| Woodhouse-Sakati Syndrome |
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Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| Townes-Brocks Syndrome 2 |
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Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Mildly el... |
ORPHA:79102 |
| Leigh Syndrome |
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Decreased activity of mitochondrial respiratory chain, Decreased activity of mitochondrial comple... |
ORPHA:506 |
| Acromesomelic Dysplasia 3 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
| Pyruvate Carboxylase Deficiency |
|
Leukodystrophy |
OMIM:266150 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Optic disc pallor, Leukodystrophy |
OMIM:617762 |
| Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
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Distal sensory impairment, Hammertoe, Steppage gait, Talipes equinovarus, Ulnar claw |
OMIM:608340 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Rere-Related Neurodevelopmental Syndrome |
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CNS demyelination, Optic atrophy, Cryptorchidism |
ORPHA:494344 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Frontal polymicrogyria, Cryptorchidism, Hypsarrhythmia, Gray matter heterotopia, CNS demyelinatio... |
OMIM:620024 |
| Isolated Complex I Deficiency |
|
Optic disc pallor, Optic neuropathy, Leukodystrophy, Decreased activity of mitochondrial complex ... |
ORPHA:2609 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
| Marchiafava-Bignami Disease |
|
CNS demyelination, Facial palsy |
ORPHA:221074 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
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Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
| Acute Disseminated Encephalomyelitis |
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Interictal EEG abnormality, EEG with focal slow activity, EEG with focal spikes, CNS demyelinatio... |
ORPHA:83597 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Unsteady gait, Difficulty walking, Brain atrophy, Abnormality of peripheral ne... |
ORPHA:90324 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Cerebral hypomyelination, Pachygyria |
ORPHA:513456 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Abnormal CNS myelination |
OMIM:619053 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... |
OMIM:618419 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Leukodystrophy |
OMIM:616140 |
| Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Caudate atrophy, Elevated circulating creatine kina... |
ORPHA:2388 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Leukodystrophy |
OMIM:619051 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level |
OMIM:110100 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
| Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... |
ORPHA:69085 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Pain insensitivity, Somatic sensory dysfunction, Impaired temperature sensation, Distal sensory i... |
ORPHA:642 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Bone marrow hypocellularity, Anemia |
OMIM:614083 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Elbow dislocation, Abnormality of the wrist, Decreased nerve conduction velocity, Paresthesia |
ORPHA:285 |
| Alg8-Cdg |
|
Optic atrophy, Leukodystrophy |
ORPHA:79325 |
| Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus... |
OMIM:618280 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Polymicrogyria, Agyria, Leukodystrophy |
OMIM:616538 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
CNS hypomyelination |
OMIM:619534 |
| Isolated Sedoheptulokinase Deficiency |
|
Abnormal CNS myelination |
ORPHA:440713 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Aplasia of the uterus, ... |
OMIM:274000 |
| Secondary Syringomyelia |
|
CNS demyelination, Facial paralysis |
ORPHA:99857 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
CNS demyelination |
OMIM:614886 |
| Immunodeficiency 23 |
|
Abnormal CNS myelination |
OMIM:615816 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:572333 |
| Peroxisome Biogenesis Disorder 6B |
|
Leukodystrophy |
OMIM:614871 |
| Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
| Multiple Sulfatase Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:272200 |
| Hurler Syndrome |
|
Abnormal CNS myelination |
OMIM:607014 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Optic neuropathy, Decreased activity of mitochondrial complex III, Leukodystro... |
OMIM:252010 |
| Progressive Multifocal Leukoencephalopathy |
|
CNS demyelination |
ORPHA:217260 |
| Aicardi-Goutieres Syndrome 1 |
|
CNS demyelination |
OMIM:225750 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele |
ORPHA:2044 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
CNS demyelination, Diffuse demyelination of the cerebral white matter |
ORPHA:139396 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Optic atrophy, Leukodystrophy |
OMIM:278800 |
| Peroxisome Biogenesis Disorder 1B |
|
Optic atrophy, Leukodystrophy |
OMIM:601539 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia |
OMIM:130050 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus |
OMIM:194190 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
| Glycogen Storage Disease Ii |
|
Abnormal CNS myelination |
OMIM:232300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
CNS demyelination |
OMIM:603553 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Optic atrophy, Leukodystrophy |
OMIM:612199 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Leukodystrophy |
ORPHA:79124 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed myelination, Multifocal epileptiform discharges, Hypsarrhythmia, EEG abnormality, Leukody... |
OMIM:619475 |
| Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
| Okamoto Syndrome |
|
Splenomegaly, Bifid uterus |
ORPHA:2729 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Acute Transverse Myelitis |
|
CNS demyelination, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonom... |
ORPHA:139417 |
| Rabson-Mendenhall Syndrome |
|
CNS demyelination |
ORPHA:769 |
| Niemann-Pick Disease Type C |
|
Demyelinating peripheral neuropathy, Abnormal CNS myelination, Leukodystrophy |
ORPHA:646 |
| Norrie Disease |
|
Cryptorchidism, Diabetes mellitus, Uterine rupture, Delayed puberty |
ORPHA:649 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
CNS demyelination, Simplified gyral pattern, Decreased activity of mitochondrial complex IV, Peri... |
OMIM:220111 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Leukodystrophy |
OMIM:619575 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Aicardi-Goutières Syndrome |
|
Demyelinating peripheral neuropathy, Leukodystrophy |
ORPHA:51 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Hypoplastic labia majora, Aplas... |
OMIM:601803 |
