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Gene: Mpz MGI:103177

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Gene Summary

Name:
myelin protein zero
Synonyms:
Mpp,  P0

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Mpzem1(IMPC)Tcp HOM Early adult 0.00
decreased grip strength Mpzem1(IMPC)Tcp HOM Early adult 1.87×10-09
abnormal gait Mpzem1(IMPC)Tcp HOM Early adult 2.44×10-19
abnormal lung morphology Mpzem1(IMPC)Tcp HOM Early adult 0.00
tremors Mpzem1(IMPC)Tcp HOM Early adult 2.44×10-19
decreased fasting circulating glucose level Mpzem1(IMPC)Tcp HOM Early adult 1.83×10-06
increased mean platelet volume Mpzem1(IMPC)Tcp HOM Early adult 5.49×10-05
decreased locomotor activity Mpzem1(IMPC)Tcp HOM   Early adult 3.90×10-06
decreased prepulse inhibition Mpzem1(IMPC)Tcp HOM Early adult 4.39×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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Combined SHIRPA and Dysmorphology

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22 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

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Immunophenotyping

Panel A FCS file(s)

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Gross Pathology and Tissue Collection

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8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Hind Leg and Hip

2 Images

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Human diseases caused by Mpz mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Mpz by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Guillain-Barre Syndrome, Familial
Acute demyelinating polyneuropathy OMIM:139393
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Axonal degeneration, Hypertrophic nerve changes, Dec... OMIM:214400
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination ORPHA:280224
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Peripheral demyelination, Abnormal autonomic nervous system physiology DECIPHER:59
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus OMIM:607584
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Abnormal myelination, Hand tremor, Progressiv... ORPHA:401840
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired temperature sensation, Abnormal motor neuron morphology, Impair... DECIPHER:29
Null Syndrome
Optic atrophy, Difficulty walking, Decreased nerve conduction velocity, Inability to walk, Demyel... ORPHA:280234
Chronic Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Fall... ORPHA:2932
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Distal sens... OMIM:601098
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Babinski sign, Inability to walk, Spasticity, Spastic paraplegia, Abnormal myelina... ORPHA:431329
Dystonia 22, Adult-Onset
Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr... OMIM:620456
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Clusters of axonal regeneration, Decrease... OMIM:607734
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Segmental peripheral demyelination, Decreased number of peripheral myelinate... OMIM:606482
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Early-Onset Generalized Limb-Onset Dystonia
Hypertonia, Gait disturbance ORPHA:256
Dystonia 31
Abnormal posturing, Difficulty walking, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm ... OMIM:619565
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal motor nerve conduc... OMIM:158580
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination ORPHA:85163
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, From... OMIM:162500
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Decreased nerve conduction velocity, Decreased motor nerve conduction... OMIM:611228
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased number ... OMIM:608673
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Steppage gait, Difficulty walking, Broad-based gait, Gait ataxia, Vocal cord paresis, Loss of amb... OMIM:614895
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Chaddock reflex, Babinski sign, Difficulty walking, Decreased compound muscle action potential am... OMIM:619112
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Subacute Inflammatory Demyelinating Polyneuropathy
Positive Romberg sign, Demyelinating motor neuropathy, Decreased distal sensory nerve action pote... ORPHA:206594
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101075
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ... OMIM:620378
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:605253
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul... OMIM:608323
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fiber... OMIM:118210
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Intention tremor, Gait ataxia, Nonprogressive cerebellar ataxia ORPHA:94122
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased num... OMIM:180800
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination OMIM:250850
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
X-Linked Charcot-Marie-Tooth Disease Type 6
Steppage gait, Difficulty walking, Distal sensory impairment, Decreased nerve conduction velocity... ORPHA:352675
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction OMIM:612577
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Lower limb spasticity, Abnormal auditory evoked potentials, Abnormality of vi... ORPHA:320401
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Cavitating leukodystrophy, Ataxia OMIM:619061
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Immunodeficiency 15B
Monocytosis, Decreased circulating antibody level, Agammaglobulinemia, Reduced natural killer cel... OMIM:615592
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot... OMIM:118200
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Babinski sign, Steppage gait, Difficulty walking, Distal sensory impairment, Decreased compound m... OMIM:618279
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa... ORPHA:276435
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturbance, Ataxia ORPHA:101078
Roussy-Lévy Syndrome
Limb ataxia, Babinski sign, Somatic sensory dysfunction, Difficulty walking, Impaired temperature... ORPHA:3115
Spinocerebellar Ataxia Type 38
Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Autosomal Recessive Spastic Paraplegia Type 67
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Limb tremor, Abnormal mye... ORPHA:401820
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Dysdiadochokinesis, Intention ... ORPHA:98890
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Cerebral atrophy, Delayed CNS myelination OMIM:618875
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, M... OMIM:613608
Autosomal Recessive Spastic Paraplegia Type 21
Difficulty walking, Apraxia, Abnormality of extrapyramidal motor function, Spasticity, Gait distu... ORPHA:101001
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Decreased sen... OMIM:609260
Charcot-Marie-Tooth Disease Type 1A
Decreased sensory nerve conduction velocity, Distal sensory impairment, Gait imbalance, Demyelina... ORPHA:101081
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Distal sensory impairment, Waddling gait, Unsteady gait, Decreased nu... OMIM:609311
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye... OMIM:601382
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paralysis, Difficulty walking OMIM:608634
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Babinski sign, Optic atrophy, Progressive spasticity, Facial pals... OMIM:608804
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Steppage gait, Difficulty walking, Axonal degeneration/regeneration, Onion bulb formation, Segmen... OMIM:606483
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Decreased motor nerve conduction velocity, Decre... OMIM:607706
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Dystonia, Torticollis, Involuntary movements OMIM:620245
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Gait disturba... ORPHA:99014
Spinocerebellar Ataxia 43
Limb ataxia, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor, Loss of ambulation OMIM:182980
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired pain sensation, Decreased motor nerve conduction velocity, Decreased amplitude of sensor... OMIM:618912
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Hypsarrhythmia, Atrophy/Degeneration affecting the brainstem, Cerebellar atroph... OMIM:613477
Leukodystrophy, Hypomyelinating, 18
Babinski sign, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Spastici... OMIM:618404
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, De... OMIM:610532
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Distal sensory impairment, Inability to walk, Impaired dista... ORPHA:99948
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation OMIM:610100
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, D... OMIM:619281
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb ataxia, Torticollis, Truncal ataxia, Spasticity, Limb dystonia, Head titubation, Abnormal py... OMIM:617560
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Gait disturbance, Myoclonus OMIM:614860
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Hereditary Motor And Sensory Neuropathy V
Babinski sign, Hypertonia, Difficulty walking, Distal sensory impairment, Spasticity, Frequent fa... OMIM:600361
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, EEG with abnormally slow frequencies, Abnormality of extrapyramidal motor fun... ORPHA:280219
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Auto... OMIM:245200
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Bradykinesia, Torticollis, Abnormal nerve conduction velocity, Gait ataxia, Limb myo... OMIM:619862
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus, CNS hypomyelination, Leukodystrophy OMIM:616494
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia ORPHA:1368
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Demyelinating peripheral neuropathy, Tremor, Gait disturba... ORPHA:101077
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, P... ORPHA:210571
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Steppage gait, Distal sensory impairment, Decreased number of large peripheral myelinated nerve f... OMIM:615376
Peroxisome Biogenesis Disorder 8B
Tip-toe gait, Babinski sign, Hypertonia, Optic atrophy, Lower limb spasticity, Spasticity, Freque... OMIM:614877
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, ... ORPHA:397946
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Hypertonia, Unsteady gait, Decreased number of peripheral myelinated nerve fibers, ... ORPHA:2386
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, Decreased lympho... OMIM:614470
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atro... ORPHA:369939
Intellectual Developmental Disorder, Autosomal Recessive 4
Delayed myelination OMIM:611107
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased sensory nerve conduction velocity, Hypertrophic nerve changes, Myelin tomacula, Decreas... OMIM:145900
Tremor-Ataxia-Central Hypomyelination Syndrome
Optic atrophy, Babinski sign, Spastic dysarthria, Impaired distal proprioception, Positive Romber... ORPHA:447896
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Spinocerebellar Ataxia Type 43
Limb ataxia, Progressive cerebellar ataxia, Peripheral axonal neuropathy, Cogwheel rigidity, Gait... ORPHA:497764
Spermatogenic Failure 17
Male infertility OMIM:617214
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Spastic parap... ORPHA:423275
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Steppage gait, Distal sensory impairment, Decreased compound muscle action potential amplitude, V... OMIM:613641
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Steppage gait, Demyelinating sensory neuropathy, Decreased nerve ... ORPHA:99939
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor ORPHA:2589
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, Decreased nerve conduction velocity, Spastic tetraparesis, Gait ataxia, CNS demyel... OMIM:249900
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Rigidity, Dy... OMIM:617672
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Dystonia, Ataxia, Peripheral demyelination, Axonal loss OMIM:616684
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... OMIM:619279
Intellectual Developmental Disorder, Autosomal Recessive 60
Delayed CNS myelination OMIM:617432
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Delayed CNS myelination OMIM:618185
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Tip-toe gait, Steppage gait, Difficulty walking, Distal sensory impairment, Gait imbalance, Decre... ORPHA:435387
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Impaired vibration sensation at ankles, Gait ataxia, Decreas... ORPHA:90103
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Frequent... ORPHA:101097
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia ORPHA:640
Choreoathetosis, Familial Inverted
Progressive choreoathetosis, Rigidity, Abnormal pyramidal sign, Gait disturbance OMIM:118750
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment OMIM:620111
Pelizaeus-Merzbacher Disease
Optic atrophy, Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Wr... OMIM:312080
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Postural ... OMIM:607694
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Steppage gait, Distal sensory impairment, Impair... OMIM:607684
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Distal sensory impairment, Decreased compound muscle action potential amplitude, C... OMIM:616040
Autosomal Dominant Spastic Paraplegia Type 17
Spastic gait, Babinski sign, Distal sensory impairment, Abnormal motor nerve conduction velocity,... ORPHA:100998
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Late-Infantile/Juvenile Krabbe Disease
Abnormal CNS myelination, Tetraplegia, Ataxia, Acroparesthesia, Clumsiness, Hemiplegia, Difficult... ORPHA:206443
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Demyelinating peripheral neuropathy, Peripheral ... ORPHA:99953
Folinic Acid-Responsive Seizures
Optic atrophy, Hypertonia, Difficulty walking, Broad-based gait, Hypsarrhythmia, Chorea, Spastic ... ORPHA:79097
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, Cerebral hypomyelination OMIM:300475
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosi... OMIM:612438
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... OMIM:616687
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Stxbp1-Related Encephalopathy
Inability to walk, EEG with abnormally slow frequencies, Hypsarrhythmia, Spasticity, Tremor, EEG ... ORPHA:599373
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Babinski sign, Hypertonia, Difficulty walking, Distal sensory impairment, Fasciculations, Incoord... OMIM:616688
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spastic Paraplegia 44, Autosomal Recessive
Spastic gait, Babinski sign, Distal sensory impairment, Lower limb spasticity, Intention tremor, ... OMIM:613206
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... ORPHA:65684
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... OMIM:605285
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Impaired distal proprioception, Demyelinating peripheral neuropathy,... OMIM:619742
Cyanide-Induced Parkinsonism-Dystonia
Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl... ORPHA:306692
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls OMIM:118700
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:302801
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Cerebral atrophy, Delayed CNS myelination OMIM:618331
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Peripheral demyelination OMIM:615185
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Spasticity, Athetosis, Intention tremor, Dystonia, Ataxia, Loss of ambulation, Abn... OMIM:617951
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Sensory ataxia, Decreased number of peripheral myelinated ner... OMIM:618184
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Fasciculations, Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment OMIM:606595
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Hyperprolactinemia
Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Developmental And Epileptic Encephalopathy 79
Frontotemporal cerebral atrophy, CNS hypomyelination, Cerebral cortical atrophy OMIM:618559
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Ataxia, Unsteady gait, Abnormal pyramida... OMIM:616948
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy, Leukodystrophy OMIM:616370
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Dem... OMIM:612674
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m... OMIM:604563
Ataxia-Pancytopenia Syndrome
Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration... OMIM:159550
Autosomal Spastic Paraplegia Type 72
Spastic gait, Rigidity, Postural tremor ORPHA:401849
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Babinski sign, Peripheral hypomyelination, Axonal degeneration, Chorea, Hypergonadotropic hypogon... OMIM:604168
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Babinski sign, Steppage gait, Difficulty walking, Lower limb spasticity, Periphera... OMIM:615035
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hyp... OMIM:607080
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity ORPHA:139536
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Steppage gait, Distal sensory impairment, Impaired distal proprioception, Ataxia, Decreased numbe... OMIM:607250
Spasticity, Childhood-Onset, With Hyperglycinemia
Optic atrophy, Babinski sign, Spasticity, Gait disturbance, Spastic ataxia, Abnormal pyramidal si... OMIM:616859
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi... ORPHA:314978
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Difficulty walking, Progressive spasticity, Head titubation, Dystonia, Ataxia, Abnormal pyramidal... ORPHA:527497
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, A... OMIM:614381
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Steppage gait, Decreased compound muscle action potential amplitude, Fasciculations, Decreased nu... OMIM:600882
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Charcot-Marie-Tooth Disease Type 4D
Distal sensory impairment, Inability to walk, Demyelinating peripheral neuropathy, Decreased ampl... ORPHA:99950
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
CNS hypomyelination, Peripheral axonal neuropathy OMIM:619688
Spastic Paraplegia 17, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired distal proprioception, Impaired vibr... OMIM:270685
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Babinski sign, Lower limb spasticity, Ataxia, CNS hypomyelination, Optic disc pallor, Spastic dip... OMIM:615281
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spinocerebellar Ataxia 35
Babinski sign, Difficulty walking, Torticollis, Incoordination, Intention tremor, Ataxia, Loss of... OMIM:613908
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Fasciculations, Decreased motor nerve conduction velocity, Difficulty walking OMIM:615575
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spinocerebellar Ataxia Type 1
Bradykinesia, Optic atrophy, Impaired proprioception, Progressive cerebellar ataxia, Gait imbalan... ORPHA:98755
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Spasticity, I... ORPHA:284332
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Dystonia, Leukodystrophy, Choreoathetosis OMIM:614932
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Spinal Muscular Atrophy, Jokela Type
Fasciculations, Tremor, Difficulty walking OMIM:615048
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Babinski sign, Decreased compound muscle action potential amplitude, Decreased motor nerve conduc... OMIM:605726
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Steppage gait OMIM:607678
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Hereditary Methemoglobinemia
Global brain atrophy, Frontal cortical atrophy, Cerebellar atrophy, Delayed myelination, Methemog... ORPHA:621
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Erectile dysfunction, Broad-based gait, Spasticity, Upper motor neu... ORPHA:206448
Juvenile Amyotrophic Lateral Sclerosis
Tip-toe gait, Hypertonia, Oromandibular dystonia, Difficulty walking, Inability to walk, Lower li... ORPHA:300605
Charcot-Marie-Tooth Disease, Type 4B3
Brain atrophy, Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings OMIM:615284
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Peripheral demyelination ORPHA:71211
Developmental And Epileptic Encephalopathy 76
Cerebral atrophy, Multifocal epileptiform discharges, Cerebellar atrophy, Delayed CNS myelination OMIM:618468
4H Leukodystrophy
Optic atrophy, Cerebral hypomyelination, Abnormality of extrapyramidal motor function, Dysdiadoch... ORPHA:289494
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, I... OMIM:601455
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Developmental And Epileptic Encephalopathy 97
Hypsarrhythmia, Tremor, Inability to walk OMIM:619561
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Spasticity, Cerebral palsy, CNS hypomyelination OMIM:618557
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Decreased nerve conduction velocity, Distal sensory impairment, Paraparesis OMIM:302802
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Limb ataxia, Impaired proprioception, Difficulty walking, Babinski sign, Hypertonia... ORPHA:251282
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Intention tremor, Dystonia, Impaired vibratory sensation, Decreased mot... OMIM:613724
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spinocerebellar Ataxia, X-Linked 1
Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait OMIM:302500
Adult Idiopathic Neutropenia
Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Charcot-Marie-Tooth Disease Type 1F
Fasciculations, Positive Romberg sign, Optic nerve hypoplasia, Gait ataxia, Decreased number of l... ORPHA:101085
Parkinson Disease 19A, Juvenile-Onset
Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni... OMIM:615528
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my... OMIM:607831
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Tremor, Myoclonus, Jerk-locked pr... OMIM:615127
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu... ORPHA:71277
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Babinski sign, Decreased sensory nerve conduction velocity, Distal sensory impairme... OMIM:270550
Leukodystrophy, Hypomyelinating, 24
Cerebral atrophy, Peripheral axonal neuropathy, B lymphocytopenia, Decreased motor nerve conducti... OMIM:619851
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Glut1 Deficiency Syndrome 1
Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis OMIM:606777
Kaya-Barakat-Masson Syndrome
Cerebral atrophy, CNS hypomyelination, Cerebellar atrophy OMIM:619125
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Spinocerebellar Ataxia 10
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Progressive cerebellar ataxia, Dis... OMIM:603516
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination OMIM:618910
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head... OMIM:611302
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination OMIM:607736
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Tremor, Gait disturbance, Rigidity, Ataxia, Decrease... OMIM:603472
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
CNS hypomyelination OMIM:620425
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Babinski sign, Impaired pain sensation, Spasticity, Abnormal autonomic nervous system physiology,... ORPHA:139578
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Decreased nerve conduction velocity, Truncal ataxia, Spasticity, Dysdiadochokinesis... OMIM:238970
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Distal sensory impairment, Impaired distal proprioce... OMIM:162400
Developmental And Epileptic Encephalopathy 4
Hypsarrhythmia, Tremor, Spastic paraplegia, Delayed CNS myelination, Spastic tetraplegia, Choreoa... OMIM:612164
Giant Axonal Neuropathy
Babinski sign, Difficulty walking, Distal sensory impairment, Falls, Spasticity, Facial palsy, Un... ORPHA:643
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Apraxia, Falls, Spasticity, Gait disturbance, Action tremor, Rigidit... OMIM:300423
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Decreased number of large peripheral myelinated n... OMIM:608340
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Limb fasciculations, Distal sensory impairment, Inability to... ORPHA:90117
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Abetalipoproteinemia
CNS demyelination, Acanthocytosis, Peripheral demyelination OMIM:200100
Developmental And Epileptic Encephalopathy 93
Cerebral atrophy, Optic atrophy, Hypsarrhythmia, Cerebellar atrophy, CNS hypomyelination OMIM:618012
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Gliosis, Spasticity, Gait disturbance, CNS demyelination, Unsteady gait, Cerebral ... OMIM:603896
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Huppke-Brendel Syndrome
Cerebral atrophy, CNS hypomyelination, Cerebellar atrophy OMIM:614482
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1188
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Spasticity, Impotence, Autonomic erectile dysfunction, Symmetric peripheral demyel... OMIM:169500
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Leukodystrophy, Hypomyelinating, 22
Babinski sign, Inability to walk, Optic disc pallor, Lower limb hypertonia, CNS hypomyelination, ... OMIM:619328
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Epilepsy, Progressive Myoclonic, 11
Intention tremor, Rigidity, Ataxia, Giant somatosensory evoked potentials, Myoclonus OMIM:618876
Charcot-Marie-Tooth Disease Type 2B1
Axonal degeneration, Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decrea... ORPHA:98856
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 25
Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia OMIM:617960
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Demyelinating sensory neuropathy, Distal sensory impairment, Tremor, Gait ataxia, ... OMIM:618387
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619528
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Rigidity, Dyston... ORPHA:101109
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Primary Lateral Sclerosis, Juvenile
Spastic gait, Babinski sign, Spastic dysarthria, Decreased compound muscle action potential ampli... OMIM:606353
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:613287
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Abnormal upper motor neuron morphology, EEG abnormality, Axonal loss, Periphera... OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe... OMIM:617087
Spermatogenic Failure 63
Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk, Hypsarrhythmia, Delayed myelination, Spastic diplegia OMIM:617830
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal sensory impairment OMIM:608895
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Decreased nerve conduction velocity, Inability to walk, Abnormal peripheral action... ORPHA:457205
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga... OMIM:616710
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy OMIM:616763
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Tip-toe gait, Steppage gait, Distal sensory impairment, Fasciculations, Impaired distal vibration... OMIM:614436
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
CNS hypomyelination, EEG abnormality, Thrombocytopenia, Delayed CNS myelination OMIM:616577
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, EEG with spike-wave complexes, Tremor, Loss of ambulation, Ataxia, Myoclonus OMIM:614018
Paroxysmal Kinesigenic Dyskinesia
Writer's cramp, Chorea, Athetosis, Involuntary movements, Dystonia ORPHA:98809
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Distal sensory impairment, Tremor, Gait disturbance, Decreased motor nerve conduct... OMIM:118300
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria OMIM:615386
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Familial Dyskinesia And Facial Myokymia
Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Atypical Juvenile Parkinsonism
Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta... ORPHA:391411
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Hypertonia, Decreased nerve conduction velocity, Dysdiadochokinesis, Intention tre... OMIM:618356
Developmental And Epileptic Encephalopathy 75
Optic atrophy, Hypsarrhythmia, Frontal cortical atrophy, Cerebral cortical atrophy, CNS hypomyeli... OMIM:618437
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Cerebellar vermis atrophy, CNS hypomyelination OMIM:615760
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Peripheral axonal neuropathy, Difficulty walking OMIM:613710
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia OMIM:619831
Porphyria, Acute Hepatic
Paralysis, Hemolytic anemia, Respiratory paralysis OMIM:612740
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination, Chorea, Intention tremor, Ataxia, Abnormal pyramidal sign, Abnormalit... ORPHA:48431
Spermatogenic Failure 50
Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Difficulty walking, Lower limb spasticity, Intention tremor, Progressive extrapyramidal movement ... ORPHA:438114
Spermatogenic Failure 30
Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia OMIM:618110
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Fasciculations, Tetraplegia, Gait disturbance, Decreased number of periphera... OMIM:604484
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Gliosis, Tremor, Spasticity, Gait ataxia, Ataxia, Unsteady gait, Dys... OMIM:213200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Autosomal Recessive Spastic Paraplegia Type 69
Spastic dysarthria, Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic... ORPHA:401830
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Spasticity, Abolished vibration sense, Frequent falls OMIM:620068
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Dentatorubral-Pallidoluysian Atrophy
Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia ORPHA:1646
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Abnormal myelination, Progressive spastic paraplegia ORPHA:401835
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa... OMIM:218000
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N... ORPHA:238459
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Loss of ambulation, Ataxia, Leukodystrophy, Dysmetria OMIM:617916
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
Spinocerebellar Ataxia Type 25
Babinski sign, Spastic dysarthria, Progressive cerebellar ataxia, Gait ataxia, Decreased number o... ORPHA:101111
Combined Saposin Deficiency
CNS demyelination, Neuronal loss in central nervous system, Optic atrophy, Splenomegaly OMIM:611721
Premature Ovarian Failure 22
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility OMIM:620548
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Optic atrophy, Babinski sign, Intention tremor, Head titubation, Ataxia, Delayed CNS myelination,... OMIM:618688
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Abnormal pyramidal sign, Dystonia, Ataxia, Leukodystrophy OMIM:619196
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Metachromatic Leukodystrophy, Late Infantile Form
Tip-toe gait, Babinski sign, Optic atrophy, Decreased nerve conduction velocity, Decerebrate rigi... ORPHA:309256
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Dystonia 16
Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Gait disturbance, Abnormal pyram... OMIM:612067
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia, Delayed CNS myelination OMIM:616421
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Falls, Waddling gait, CNS hypomyelination, Dysmetria OMIM:618863
Spinocerebellar Ataxia 1
Limb ataxia, Babinski sign, Impaired proprioception, Decreased sensory nerve conduction velocity,... OMIM:164400
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Torsion dystonia, Involuntary movements, Dy... ORPHA:98811
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Lower limb spasticity, Gliosis, Titubation, Dystonic gait,... ORPHA:280210
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hypertonia, Inability to walk, Rigidity, CNS hypomyelination, Choreoathetosis OMIM:620023
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, Brain atrophy, B lymphocytopenia, T lymphocytopenia, CNS... OMIM:615966
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Metachromatic Leukodystrophy
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Chorea, Tetraplegia, Gait dist... OMIM:250100
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Lichtenstein-Knorr Syndrome
Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:616291
Neurodevelopmental Disorder With Language Delay And Seizures
CNS hypomyelination, Diffuse cerebral atrophy OMIM:619908
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Waddling gait, Inability to walk OMIM:616269
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Babinski sign, Oculomotor apraxia, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor,... ORPHA:453521
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Truncal ataxia, Tremor,... OMIM:618587
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of peri... OMIM:615490
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Facial diplegia, Vocal cord paralysis OMIM:616287
Leukodystrophy, Hypomyelinating, 16
Hypertonia, Broad-based gait, Shuffling gait, Optic disc pallor, Gait ataxia, Intention tremor, D... OMIM:617964
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Optic disc pallor, Spastic paraplegia, Ataxia, CNS hypomyelina... OMIM:618527
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Dystonia 22, Juvenile-Onset
Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Intention tremor,... OMIM:620453
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Decerebrate rigidity, Spastici... ORPHA:309263
Developmental And Epileptic Encephalopathy 17
Inability to walk, Hypsarrhythmia, Chorea, Athetosis, Dystonia, Delayed CNS myelination, EEG with... OMIM:615473
Trigeminal Neuralgia
CNS demyelination, Peripheral demyelination, Cranial nerve compression ORPHA:221091
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Demyelinating peripheral neuropathy,... ORPHA:504476
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Brain atrophy, Cerebellar atrophy, Abnormal auditory evoked potentials, Delayed... OMIM:619260
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia ORPHA:276183
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Dystonia, Axonal loss OMIM:300857
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Ataxia, Delayed CNS myelination OMIM:300983
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus OMIM:616366
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Friedreich Ataxia
Limb ataxia, Babinski sign, Impaired proprioception, Decreased sensory nerve conduction velocity,... OMIM:229300
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Tetraplegia, Dysesthesia, Decreased amplitude of sensory act... ORPHA:85446
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Decreased nerve conduction velocity, Gliosis, Abnormality of visual evoked potenti... OMIM:256600
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Difficulty walking, Abnormal CNS myelination, Broad-based gait, Tremor, Spastic pa... ORPHA:477673
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
EEG abnormality, Tremor, Ataxia, Gait ataxia OMIM:617831
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Dystonia, Ataxia, Spastic ataxia, Myoclonus, ... OMIM:614487
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... OMIM:620542
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Combined Oxidative Phosphorylation Defect Type 13
Decreased nerve conduction velocity, Limb dystonia, Delayed myelination, Lower limb hypertonia, C... ORPHA:319514
Ceroid Lipofuscinosis, Neuronal, 5
Abnormal nervous system electrophysiology, Dysdiadochokinesis, Limb tremor, Loss of ambulation, A... OMIM:256731
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par... ORPHA:71517
Leukodystrophy, Childhood-Onset, Remitting
Leukodystrophy OMIM:619864
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Abnormal autonomic... OMIM:618049
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid... ORPHA:99750
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia, EEG abnormality OMIM:617836
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Broad-based gait, Myoclonus, CNS hypomyelination, Delayed CNS myelination OMIM:616158
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Alg2-Cdg
Hypsarrhythmia, Cerebral hypomyelination ORPHA:79326
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vib... OMIM:620221
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums... OMIM:619911
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Progressive Myoclonic Epilepsy With Dystonia
Optic atrophy, Abnormality of extrapyramidal motor function, EEG with irregular generalized spike... ORPHA:352596
Autosomal Recessive Spastic Paraplegia Type 46
Babinski sign, Abnormal sperm head morphology, Difficulty walking, Spastic dysarthria, Lower limb... ORPHA:320391
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Leukodystrophy, Hypomyelinating, 12
Optic atrophy, Cerebellar atrophy, Abnormal autonomic nervous system physiology, Delayed myelinat... OMIM:616683
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Babinski sign, Sensory axonal neuropathy, Athetosis, Involuntary movements, Hyperg... OMIM:271245
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... OMIM:615615
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Impaired tandem gait, Dysmetria OMIM:619028
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, CNS hypomyelination, ... OMIM:616239
Horner Syndrome, Congenital
Paralysis OMIM:143000
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Inability to ... OMIM:128100
Developmental And Epileptic Encephalopathy 56
EEG with polyspike wave complexes, Broad-based gait, Action tremor, Ataxia, Poor coordination, EE... OMIM:617665
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Babinski sign, Difficulty walking, Decreased nerve conduction velocity, Chorea, De... ORPHA:309271
Friedreich Ataxia
Limb ataxia, Babinski sign, Impaired proprioception, Optic atrophy, Gait imbalance, Inability to ... ORPHA:95
Acute Peripheral Arterial Occlusion
Paralysis, Leukocytosis ORPHA:90064
Spastic Paraplegia 78, Autosomal Recessive
Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Impaired tactile sensation, Restin... OMIM:617225
Autosomal Dominant Spastic Paraplegia Type 6
Babinski sign, Lower limb spasticity, Gait disturbance, Spastic paraplegia, Postural tremor ORPHA:100988
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre... OMIM:117360
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Impaired distal tactile sensation, Gait disturbance OMIM:618400
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ataxia, Myoclonus, Postural tremor, Froment sign OMIM:620158
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Neuropathy, Congenital Hypomyelinating, 3
Babinski sign, Spasticity, Facial diplegia, Decreased motor nerve conduction velocity, Dystonia, ... OMIM:618186
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
X-Linked Charcot-Marie-Tooth Disease Type 2
Babinski sign, Steppage gait, Distal sensory impairment, Gait disturbance, Optic neuropathy, Decr... ORPHA:101076
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Delayed menarche... ORPHA:330050
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebral atrophy, CNS hypomyelination, Cerebellar atrophy OMIM:619286
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch... ORPHA:53583
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hyperkinetic movements, Difficulty walking, Inability to walk, Chorea, Truncal ataxia, Tremor, At... OMIM:615356
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, EEG abnormality, Dysm... OMIM:617810
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Brain atrophy, Abnormal myelination ORPHA:85179
Spinocerebellar Ataxia 32
Infertility, Ataxia, Testicular atrophy, Azoospermia OMIM:613909
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Spastic dysarthria, Gait imbalance, Oculomotor apraxia, Falls, Freezing of gait, Blepha... ORPHA:240094
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, CNS hypomyelination, Cerebral cortical atrophy, Leukodystrophy OMIM:616420
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Delayed CNS myelination OMIM:619090
Indifference To Pain, Congenital, Autosomal Recessive
Impaired proprioception, Abnormal nerve conduction velocity, Impaired temperature sensation, Impa... OMIM:243000
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Atrophy of the spinal ... OMIM:602433
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy OMIM:617613
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Impaired proprioception, Decreased sensory nerve conduction velocity, Broad-based ... OMIM:609033
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal sensory impairment, Impaired distal vibration sensation, Decreased compound muscle action ... OMIM:619519
Huntington Disease-Like 1
Bradykinesia, Abnormal posturing, Chorea, Incoordination, Poor fine motor coordination, Frequent ... ORPHA:157941
Spermatogenic Failure 12
Infertility, Azoospermia OMIM:615413
Spinocerebellar Ataxia 19
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl... OMIM:607346
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig... ORPHA:240085
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Developmental And Epileptic Encephalopathy 71
CNS demyelination, EEG with burst suppression OMIM:618328
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head trem... ORPHA:420492
Caribbean Parkinsonism
Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, Act... ORPHA:97355
Pelizaeus-Merzbacher Disease In Female Carriers
Babinski sign, Difficulty walking, Inability to walk, Lower limb spasticity, Gait disturbance, Ha... ORPHA:280229
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11
Babinski sign, Steppage gait, Difficulty walking, Decreased compound muscle action potential ampl... OMIM:620528
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Inability to walk, Spasticity, Ataxia, CNS hypomyelination, Leukodystrophy, Dysmetria OMIM:619576
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Leukoencephalopathy, Cystic, Without Megalencephaly
Abnormal CNS myelination, Spasticity, Athetosis, Dystonia, Ataxia OMIM:612951
Adenylosuccinase Deficiency
Inability to walk, Spasticity, Hemiplegia, Gait ataxia, Opisthotonus, Myoclonus, CNS hypomyelinat... OMIM:103050
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Developmental And Epileptic Encephalopathy 34
Cerebral atrophy, Delayed CNS myelination OMIM:616645
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Babinski sign, Tip-toe gait, Lower limb spasticity, Knee clonus, Spastic paraplegia... OMIM:604360
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, Chorea, Tremor, Gait ataxia... OMIM:208920
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Apraxia, Gliosis, Spasticity, Shuffling gait, Gait disturbance, CNS demyelination, ... OMIM:221820
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, EEG with generalized slow activity grad... ORPHA:79263
Spinocerebellar Ataxia 27B, Late-Onset
Limb ataxia, Postural tremor, Gait ataxia OMIM:620174
Developmental And Epileptic Encephalopathy 29
Chorea, Spasticity, Blepharospasm, Limb dystonia, CNS hypomyelination OMIM:616339
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Spasticity, Tremor, Dystonia OMIM:304700
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Optic atrophy, Cerebellar atrophy, EEG abnormality, Neurodegeneration OMIM:610951
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Spasticity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Gait disturbance OMIM:614198
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F... ORPHA:2590
Sialidosis Type 1
Decreased nerve conduction velocity, Tremor, Gait disturbance, Ataxia, Myoclonus, EEG abnormality... ORPHA:812
Lissencephaly 8
Optic atrophy, Cerebral hypomyelination OMIM:617255
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dysmetria, Infertili... OMIM:614409
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Steppage gait, Streak ovary, Abnormal peripheral nerve morphology by anatomical site, Infertility... ORPHA:168563
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Vocal cord paralysis OMIM:607641
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Adult-Onset Distal Myopathy Due To Vcp Mutation
Difficulty walking, Decreased nerve conduction velocity, Fasciculations, Tremor, Facial diplegia,... ORPHA:329478
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Impaired tandem gait, Hand tremor OMIM:619724
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic gait, Babinski sign, Distal sensory impairment, Lower limb spasticity, Clonus, Spastic pa... OMIM:256840
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, CNS hypomyelination, Optic atrophy, Delayed myelination OMIM:614261
Premature Ovarian Failure 13
Oligomenorrhea, Amenorrhea, Female infertility OMIM:617442
Peroxisome Biogenesis Disorder 11A (Zellweger)
CNS hypomyelination OMIM:614883
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Hand paresthesia, Distal sensory impairment, Impaired pain sensation, Impaired vibration sensatio... OMIM:613640
Ddost-Cdg
CNS hypomyelination, Tremor, Oromotor apraxia ORPHA:300536
Childhood-Onset Spasticity With Hyperglycinemia
Optic atrophy, Babinski sign, Hypertonia, Spastic dysarthria, Loss of ability to walk in early ch... ORPHA:401866
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Impa... ORPHA:137898
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Hypsarrhythmia, Diffuse cerebral atrophy, Delayed CNS myelination OMIM:613668
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Limb dystonia OMIM:620270
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Glutamine Deficiency, Congenital
Brain atrophy, CNS hypomyelination OMIM:610015
Sporadic Infantile Bilateral Striatal Necrosis
Bradykinesia, Babinski sign, Abnormal posturing, Progressive extrapyramidal muscular rigidity, Ch... ORPHA:225147
Lethal Ataxia With Deafness And Optic Atrophy
Optic atrophy, Tetraplegia, Spinal cord posterior columns myelin loss, EEG with focal epileptifor... ORPHA:1187
Classic Pantothenate Kinase-Associated Neurodegeneration
Tip-toe gait, Abnormal posturing, Inability to walk, Spasticity, Frequent falls, Gait disturbance... ORPHA:216866
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady... OMIM:609270
Glut1 Deficiency Syndrome 2
Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Tremor, Spastic tetraparesis, Broad-based gait OMIM:619470
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Ataxia ORPHA:1933
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Optic nerve h... OMIM:617302
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Peripheral hypomyelination, Cerebral dysmyelination, Decreased nerve conduction... OMIM:609136
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Phenylketonuria
EEG abnormality, Tremor, Ataxia, Lower limb spasticity ORPHA:716
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, M... OMIM:618877
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Atax... OMIM:610185
Tangier Disease
Peripheral axonal neuropathy, Facial diplegia, Splenomegaly, Peripheral demyelination OMIM:205400
Infantile Neuroaxonal Dystrophy
Optic atrophy, Spasticity, Progressive spasticity, Spastic tetraparesis, Abnormal autonomic nervo... ORPHA:35069
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Gait disturbance ORPHA:2928
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Cednik Syndrome
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia ORPHA:66631
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, CNS hypomyelination, Hepatosplenomegaly ORPHA:309155
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Peripheral axona... ORPHA:320406
Leukodystrophy, Hypomyelinating, 17
Cerebral atrophy, Hypsarrhythmia, Cerebellar atrophy, Leukodystrophy OMIM:618006
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Inability to walk, Athetosis, Gait disturbance, Delayed myelination, Rigidity, Los... OMIM:618241
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia, Spastic diplegia OMIM:300048
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia, Loss of ambulation, Leukodystrophy OMIM:615010
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
Sandhoff Disease
Orthostatic hypotension, Impaired temperature sensation, Fasciculations, Spasticity, Upper motor ... OMIM:268800
Vocal Cord And Pharyngeal Distal Myopathy
Difficulty walking, Distal sensory impairment, Decreased nerve conduction velocity, Vocal cord pa... ORPHA:600
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Ataxia, Spastic atax... OMIM:616795
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Limb hypertonia, Hypsarrhythmia, EEG with multifocal slow acti... ORPHA:442835
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Truncal titubation, Positive Romberg sign, Impaired vibration sensation ... ORPHA:88628
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Dystonia 37, Early-Onset, With Striatal Lesions
Leg dystonia, Oculomotor apraxia, Chorea, Loss of ambulation, Ataxia, Generalized dystonia, Chore... OMIM:620427
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St... OMIM:612310
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Babinski sign, Difficulty walking, Lower limb spasticity, Dysdiadochokinesis, Spas... OMIM:612319
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Decreased numbe... OMIM:201300
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Hypertonia, Delayed brainstem auditory evoked response conduction time, Lower limb... OMIM:616881
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Inability to walk, Lower limb spasticity, Tongue fasciculations, Gliosis, Cataplex... OMIM:617193
Behr Syndrome
Optic atrophy, Babinski sign, Truncal ataxia, Tremor, Progressive spasticity, Gait disturbance, F... OMIM:210000
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Lower limb hypertonia, Thrombocytopenia, ... OMIM:169400
Orofaciodigital Syndrome Xvii
CNS hypomyelination OMIM:617926
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Decreased fertility, Testicular atrophy OMIM:313200
Developmental And Epileptic Encephalopathy 35
Cerebral atrophy, Brain atrophy, Delayed CNS myelination OMIM:616647
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Combined Oxidative Phosphorylation Defect Type 39
Tip-toe gait, Babinski sign, Decreased nerve conduction velocity, Leg dystonia, Lower limb spasti... ORPHA:565624
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia OMIM:618951
Multifocal Motor Neuropathy
Fasciculations, Motor conduction block ORPHA:641
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:102
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting ... ORPHA:401768
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysm... OMIM:614831
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Abnormal lower motor neuron morphology, Parkinsonism OMIM:105500
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ... ORPHA:352649
Gaba-Transaminase Deficiency
Leukodystrophy, EEG with burst suppression OMIM:613163
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Cerebral cortical atrophy, EEG abnormality, CNS demyelination, Caudate atrophy OMIM:618193
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Brain atrophy, Delayed myelination, Abnormality of visual evoked potentials, EE... OMIM:609304
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Distal sensory impairment, Abnormal upper motor neuron morph... OMIM:606070
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Charcot-Marie-Tooth Disease Type 1E
Steppage gait, Difficulty walking, Distal sensory impairment, Gait imbalance, Impaired temperatur... ORPHA:90658
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation ORPHA:209335
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, EEG with occipital epil... ORPHA:254881
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Difficulty walking, Inability to walk, Limb hypertonia, Spasticity, Ataxia, CNS hypomyelination, ... ORPHA:481152
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Babinski sign, Difficulty walking, Oculomotor apraxia, Lower limb spasticity, Dysd... ORPHA:171629
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Spasticity, Tremor, Abn... ORPHA:3095
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Developmental And Epileptic Encephalopathy 42
Hypertonia, Athetosis, Tremor, Ataxia, EEG abnormality OMIM:617106
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia... OMIM:615530
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Oculomotor apraxia, Chorea, Tremor, Impaired distal vibrati... OMIM:606002
Hsd10 Disease
Optic atrophy, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreo... ORPHA:391417
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Abnormality of ... ORPHA:96
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Gait imbalance, Secondary amenorrhea, Incoordi... ORPHA:79239
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Tip-toe gait, Babinski sign, Hypertonia, Difficulty walking, Decreased distal sensory nerve actio... ORPHA:466768
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Intention tremor, Head titubation, Dystonia, Ataxia, CNS hypomyelination, Leukodys... OMIM:619708
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Limb hypertonia, Spasticity, Involuntary movements, Delayed myelination, Dystonia, Ataxia, Choreo... OMIM:615905
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Limb hypertonia, Gait ataxia, Ataxia, Opisthotonus, Delayed CNS myelination, C... OMIM:619580
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Multiple Sulfatase Deficiency
Cerebral atrophy, Cerebellar atrophy, CNS demyelination, Splenomegaly, Peripheral demyelination OMIM:272200
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Decreased sensory nerve conduction velocity, Sensory ataxia, Gait ataxia, Decrease... OMIM:616192
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav... OMIM:606693
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Waddling gait OMIM:618138
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Frequent falls, Gait... ORPHA:93952
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypertonia, Spasticity, Tremor, Rigidity, Ataxia ORPHA:33445
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Limb ataxia, Decreased distal sensory nerve action potential, Impaired pain sensation, Positive R... OMIM:614575
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Digital Extensor Muscle Aplasia-Polyneuropathy
Impaired pain sensation, Abnormal nerve conduction velocity ORPHA:2926
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Variegate Porphyria
Paralysis OMIM:176200
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Inability to walk, Apraxia, Spasticity, Spastic tetraparesis, CNS demyelination, Dystonia, Opisth... OMIM:619653
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebral atrophy, Interictal epileptiform activity, Hippocampal atrophy, Cerebellar atrophy, CNS ... OMIM:618922
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Familial Hyperprolactinemia
Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Babinski sign, Hypertonia, Chorea, Spasticity, Cerebral palsy, Delayed myelination, Dystonia, EEG... OMIM:618451
Multiple System Atrophy, Cerebellar Type
Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Resting tremor, Axial... ORPHA:227510
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Facial palsy, Waddling gait, Decreased compound muscle action potential ampli... OMIM:603511
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Difficulty walking, Spasticity, Ataxia, Leukodystrophy OMIM:618242
Peho Syndrome
Optic atrophy, Hypsarrhythmia, Neuronal loss in central nervous system, Undetectable visual evoke... OMIM:260565
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Steppage gait, Distal sensory impairment, Positive Romberg sign, Abnormality of vi... OMIM:601152
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Increased circulating IgE level, Spasticity, Increased circulating I... OMIM:620565
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor, Hemolytic anemia OMIM:609153
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Abnormality of peripheral nerve conduction, Paraparesis ORPHA:101005
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Tremor, Delayed CNS myelination, Tetraparesis, Antalgic gait OMIM:620546
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ... OMIM:617013
Frontal Encephalocele
Hydrocephalus, Leukodystrophy, Encephalocele, Spina bifida ORPHA:1931
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:98933
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Diaphragmatic paralysis, Facial palsy, Abnormal motor nerve conduction vel... OMIM:614399
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia, Lower limb spasticity OMIM:620475
Developmental And Epileptic Encephalopathy 72
Cerebral atrophy, Hypsarrhythmia, Delayed CNS myelination OMIM:618374
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Ap... ORPHA:52368
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Babinski sign, Inability to walk by childhood/adolescence, Steppage gait, Sensory ... ORPHA:99947
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegal... OMIM:226990
Combined Oxidative Phosphorylation Deficiency 53
CNS hypomyelination, Hypochromic microcytic anemia OMIM:619423
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Tongue fasciculations, Tremor, Facial palsy, Frequent falls, Myoclonus OMIM:159950
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Distal sensory impairm... ORPHA:320375
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Babinski sign, Impaired proprioception, Optic atrophy, Impaired vibration sensatio... OMIM:615491
Neuropathy, Hereditary Sensory, Type Ie
Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Global brain atrophy, Hypsarrhythmia, Brain atrophy, Cerebral cortical atrophy, EEG with frontal ... ORPHA:457351
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Difficulty walking, Inability to walk, Impaired pain sensation, Demyelinating peri... ORPHA:99949
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Difficulty walking, Lower limb spasticity, Spasticity, Waddling gait, Dystonia, Ataxia, Unsteady ... ORPHA:464282
Neurodevelopmental Disorder With Involuntary Movements
Hyperkinetic movements, Chorea, Spasticity, Athetosis, Involuntary movements, Dystonia, Delayed C... OMIM:617493
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Neuronal loss in central nervous system, Delayed CNS myelination OMIM:614959
Combined Oxidative Phosphorylation Deficiency 11
Cerebral cortical atrophy, CNS hypomyelination, Delayed myelination OMIM:614922
Cerebrotendinous Xanthomatosis
Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Restin... ORPHA:909
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Distal sensory impairment, Broad-based gait, Demyelinating p... OMIM:616652
Allan-Herndon-Dudley Syndrome
Babinski sign, Inability to walk, Athetosis, Clonus, Spastic paraplegia, Ataxia, Delayed CNS myel... OMIM:300523
Rabies
Vocal cord paresis, Cerebral palsy ORPHA:770
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Tremor, Gait ... OMIM:616505
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Lethal Congenital Contracture Syndrome 7
Paralysis OMIM:616286
Autosomal Recessive Spastic Paraplegia Type 75
Babinski sign, Spasticity, Titubation, Spastic paraplegia, Abnormal pyramidal sign, Impaired vibr... ORPHA:459056
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor ORPHA:397744
Leukodystrophy, Hypomyelinating, 9
Babinski sign, Lower limb spasticity, Abnormality of extrapyramidal motor function, Intention tre... OMIM:616140
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Hypsarrhythmia, Chorea, Athetosis, Delayed CNS myelination, Choreoathetosis OMIM:309541
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Bradykinesia, Resting tremor, Tremor, Abnormal autonomic nervous sy... OMIM:168600
Hereditary Sensory And Autonomic Neuropathy Type 1
Steppage gait, Distal sensory impairment, Gait imbalance, Impaired temperature sensation, Trophic... ORPHA:36386
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Focal EEG discharges with secondary generalization, Lower limb spasticity, Broad-based gait, Rest... ORPHA:3077
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Spasticity, Abnormality of vi... ORPHA:485421
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor,... OMIM:601650
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Intention tremor, Hypergonadotropic hypogonadism, Hemiparesis, Ataxia OMIM:614307
Waisman Syndrome
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh... OMIM:311510
Spinocerebellar Ataxia Type 18
Titubation, Head tremor, Gait ataxia, Somatic sensory dysfunction, Dysmetria ORPHA:98771
Pyridoxine-Dependent Epilepsy
Hypsarrhythmia, Brain atrophy, EEG with generalized sharp slow waves, Delayed CNS myelination, Mu... ORPHA:3006
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Premature ovarian insufficiency, Resting tremor, Poor fine motor coordination, Dysd... OMIM:300623
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Gait ataxia, EEG abnor... ORPHA:529665
Spinocerebellar Ataxia 25
Babinski sign, Ataxia, Decreased number of peripheral myelinated nerve fibers, Oculomotor apraxia OMIM:608703
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Mitochondrial Complex I Deficiency, Nuclear Type 15
CNS demyelination, Optic atrophy, Cerebellar atrophy OMIM:618237
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio... OMIM:607454
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Abnormal CNS myelination, Ataxia OMIM:610651
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Demyelinating peripheral neuropathy, Basal lamina onion bulb formation, Progressive... ORPHA:2821
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Spasticity, Tremor, Dystonia, Unsteady gait, Ankle clonus, Abnormal pyr... OMIM:617435
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign ORPHA:542310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Diaphragmatic paralysis, Decreased nerve conduction velocity OMIM:604320
Primary Angiitis Of The Central Nervous System
Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis ORPHA:140989
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis... ORPHA:98757
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Abnormal myelination ORPHA:352682
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Spastic paraplegia, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction... OMIM:619026
Hypokalemic Periodic Paralysis
Paralysis, Periodic hypokalemic paresis, Respiratory paralysis ORPHA:681
Leukodystrophy, Hypomyelinating, 3
Global brain atrophy, Sudanophilic leukodystrophy, Corpus callosum atrophy, EEG abnormality, Leuk... OMIM:260600
Metachromatic Leukodystrophy
Tip-toe gait, Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, ... ORPHA:512
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Tremor, Hyperinsulinemic hypogl... ORPHA:276608
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
CNS hypomyelination OMIM:618622
Aicardi-Goutieres Syndrome 4
Cerebral atrophy, Pancytopenia, Cerebellar atrophy, Hepatosplenomegaly, Splenomegaly, Thrombocyto... OMIM:610333
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Glutaric Acidemia I
Symmetrical progressive peripheral demyelination, Delayed myelination, Rigidity, Dystonia, Opisth... OMIM:231670
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Resting tremor, Abnormal cranial nerve... ORPHA:247234
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor OMIM:231950
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Loss of ambulation, Female infertility OMIM:619518
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Babinski sign, Hypertonia, CNS demyelination, Dystonia, Leukodystrophy OMIM:264470
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Shuffling gait, Spast... OMIM:300055
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Spinocerebellar Ataxia 2
Limb ataxia, Babinski sign, Bradykinesia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Aminoacylase 1 Deficiency
Cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Delayed CNS myelination OMIM:609924
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Spastic tetraplegia, Decreased motor nerve conduction velocity, Optic atrophy, Abnormal pyramidal... OMIM:615419
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Hypertonia, Inability to walk, Tremor, Ataxia, Delayed CNS myelination OMIM:619556
Spinocerebellar Ataxia 6
Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ... OMIM:183086
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dystonia,... OMIM:300894
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Ataxia OMIM:616737
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Spastic paraparesis ORPHA:329284
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Parkinson Disease 1, Autosomal Dominant
Bradykinesia, Resting tremor, Gliosis, Shuffling gait, Gait disturbance, Rigidity, Dystonia, Loss... OMIM:168601
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:300853
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Tremor, Ataxia, Myoclonus OMIM:612016
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
X-Linked Adrenoleukodystrophy
Paralysis, Incoordination, Impotence, Gait disturbance, Paraparesis, Hemiparesis, Progressive spa... ORPHA:43
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Babinski sign, Hypertonia, Limb hypertonia, Gliosis, Abnormal autonomic nervous sy... OMIM:614498
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, EEG with spike-wave complexes, Oculomotor apraxia, EEG with polyspike wave... ORPHA:247262
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Primary Progressive Freezing Gait
Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ... ORPHA:75567
Developmental And Epileptic Encephalopathy 1
Hypertonia, Erratic myoclonus, Hypsarrhythmia, Spastic tetraparesis, Dystonia, Delayed CNS myelin... OMIM:308350
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Abnormality of extrapyramidal motor function, Gliosis, Spastic tetraparesis, Ataxi... OMIM:236792
Leukoencephalopathy With Ataxia
Limb ataxia, Action tremor, Gait ataxia OMIM:615651
Bickerstaff Brainstem Encephalitis
Babinski sign, Impaired proprioception, Abnormal cranial nerve morphology, Tetraplegia, Dysesthes... ORPHA:79138
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Tremor, Unsteady gait, Ataxia, Dysmetria OMIM:614867
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Delayed CNS myelination, CNS hypomyelination, EEG with generalized slow activ... OMIM:618367
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Fasciculations, Tetraplegia, Progressive spasticity, Cataplexy, Spasticity, Dyston... ORPHA:496641
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Impaired distal vibration sensation, Abnormal autonomic nervous system physiology, ... ORPHA:99027
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ... OMIM:607483
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Spasticity, Tremor, Inability to walk OMIM:618718
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Abnormal CNS myelination ORPHA:521390
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Difficulty walking, Inability to walk, Peripheral axonal neuropathy, Facial dipleg... ORPHA:254930
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, EEG with spike-wave complexes, Incoordination, Poor fine motor coordination, Tremor... ORPHA:36387
Leukodystrophy, Hypomyelinating, 25
Gait ataxia, Dystonia, Delayed CNS myelination OMIM:620243
Dermatoleukodystrophy
Leukodystrophy OMIM:221790
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Microphthalmia-Brain Atrophy Syndrome
Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Diffuse demyelination of... ORPHA:77299
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Impaired distal vibration sensation, Spasticity, Gait disturb... OMIM:616586
Ring Chromosome Y Syndrome
Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Female infertility, S... ORPHA:261529
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Sensory axonal neuropathy, Facial palsy, Spastic paraplegia, Decreased number of p... OMIM:256850
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, CNS hypomyelination ORPHA:88618
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Ataxia, Macrothrombocytopenia, Pulmonary he... OMIM:603585
2,4-Dienoyl-Coa Reductase Deficiency
Optic atrophy, Incoordination, Tetraplegia, Spasticity, Clonus, Dystonia, Ataxia, Delayed CNS mye... OMIM:616034
Pyruvate Carboxylase Deficiency
Tip-toe gait, Tremor, Delayed myelination, Basal ganglia gliosis, Dystonia, Ataxia, Abnormal pyra... ORPHA:3008
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce... OMIM:240500
Charcot-Marie-Tooth Disease Type 4B2
Tip-toe gait, Optic atrophy, Decreased distal sensory nerve action potential, Difficulty walking,... ORPHA:99956
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Falls, Spasticity, Dystonia, Ataxia, Leukodystrophy OMIM:619224
Leukodystrophy, Hypomyelinating, 4
Babinski sign, Progressive spasticity, Spastic paraplegia, Head titubation, Choreoathetosis, Leuk... OMIM:612233
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia ORPHA:70594
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Cerebral hypomyelination, Myoclonus OMIM:612949
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Abnormal nerve conduction velocity ORPHA:93476
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Tongue fasciculations, Facial palsy, Decreased compound musc... OMIM:301830
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Canavan Disease
Optic atrophy, Hypsarrhythmia, Brain atrophy, CNS demyelination, Multifocal epileptiform discharges OMIM:271900
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Saccharopinuria
Tremor, Distal sensory impairment, Spastic diplegia, Gait ataxia ORPHA:3124
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Tremor, Facial palsy, Ataxia, Hypogonadism, Myoclonus, Optic d... ORPHA:97229
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Delayed CNS myelination, Leukopenia, Splenomegaly, Lymphopenia, Neurodegeneration OMIM:620210
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased numbe... ORPHA:298
Peroxisome Biogenesis Disorder 4B
Optic atrophy, Decreased nerve conduction velocity, Ataxia, Gait disturbance OMIM:614863
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Abnormal CNS myelination OMIM:611555
Multiple Sclerosis, Susceptibility To
CNS demyelination, Incoordination, Spasticity, Paresthesia OMIM:126200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Cystathioninuria
Tremor ORPHA:212
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Leigh Syndrome
Optic atrophy, Gliosis, Spasticity, CNS demyelination, Dystonia, Ataxia OMIM:256000
Peroxisome Biogenesis Disorder 6B
Limb ataxia, Distal sensory impairment, Impaired distal vibration sensation, Intention tremor, Ga... OMIM:614871
Spermatogenic Failure 77
Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia OMIM:620103
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Anemia, Tremor, Gait disturbance, Type I diabetes mellitus ORPHA:1192
East Syndrome
Peripheral hypomyelination, Difficulty walking, Inability to walk, Peripheral axonal neuropathy, ... ORPHA:199343
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ... ORPHA:79139
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Developmental And Epileptic Encephalopathy 103
Eyelid myoclonus, EEG with polyspike wave complexes, EEG with burst suppression, Hypsarrhythmia, ... OMIM:619913
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Impaired pain sensation, Fasciculations, Tremor, Impaired distal ... OMIM:619574
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:619092
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
EEG with multifocal slow activity, Diffuse cerebral atrophy, Abnormal myelination ORPHA:289266
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Delayed CNS myelination OMIM:618832
Myasthenic Syndrome, Congenital, 25, Presynaptic
Decreased compound muscle action potential amplitude OMIM:618323
Dpagt1-Cdg
Optic atrophy, Hypertonia, Akinesia, Inability to walk, Hypsarrhythmia, Tremor, Diffuse optic dis... ORPHA:86309
Toxin-Mediated Infectious Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy ORPHA:230800
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrap... OMIM:614298
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Hypertonia, Limb hypertonia, Athetosis, Tremor, Dystonia, Ataxia, Delayed CNS myel... OMIM:617710
Ataxia-Telangiectasia
Spasticity, Tremor, Gait disturbance, Ataxia, Type II diabetes mellitus, Lymphopenia, Recurrent r... ORPHA:100
Lethal Congenital Contracture Syndrome 5
Decreased nerve conduction velocity, EEG with burst suppression OMIM:615368
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristoce... ORPHA:274
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne... ORPHA:478029
Waardenburg Syndrome, Type 4A
Spastic paraparesis, Aganglionic megacolon, Ataxia, Leukodystrophy OMIM:277580
Crigler-Najjar Syndrome Type 1
Tremor ORPHA:79234
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Thrombocytopenia, Leukocytosis ORPHA:83601
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tip-toe gait, Babinski sign, Tremor, Gait disturbance, Spastic paraplegia ORPHA:83629
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxia, Ataxia... ORPHA:363400
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Distal sensory impairment, Decreased number of peripheral my... ORPHA:477817
Smith-Magenis Syndrome
Impaired pain sensation, EEG abnormality, Abnormal nerve conduction velocity, Pain insensitivity OMIM:182290
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Cerebral atrophy, Cerebellar atrophy, Leukodystrophy, Delayed CNS myelination OMIM:620269
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Spasticity, Gliosis, Tremor, Gait disturbance OMIM:300957
Ovarian Dysgenesis 3
Female infertility, Primary amenorrhea OMIM:614324
Marbach-Rustad Progeroid Syndrome
CNS hypomyelination OMIM:619322
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, EEG abnormality ORPHA:163703
Familial Cervical Artery Dissection
Paralysis ORPHA:36382
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Babinski sign, Gait imbalance, Oculomotor apraxia, Head tremor, Dystonia, Ataxia, Abnormal pyrami... ORPHA:64753
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Neuroferritinopathy
Bradykinesia, Babinski sign, Difficulty walking, Writer's cramp, Leg dystonia, Resting tremor, Ch... ORPHA:157846
Molybdenum Cofactor Deficiency, Complementation Group B
Cerebral atrophy, Diffuse cerebral atrophy, Peripheral demyelination, Axonal loss OMIM:252160
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L... ORPHA:277
Marchiafava-Bignami Disease
Limb hypertonia, Apraxia, Facial palsy, Gait disturbance, Gait ataxia, CNS demyelination, Rigidit... ORPHA:221074
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Peripheral hypomyelination, Decreased nerve con... OMIM:618733
Perry Syndrome
Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait OMIM:168605
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypertonia, Spasticity, Athetosis, Delayed myelination, Spastic tetraplegia, Cerebral hypomyelina... ORPHA:79351
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
CNS hypomyelination, EEG abnormality OMIM:614501
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Leukodystrophy, Myoclonus OMIM:618225
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign OMIM:618060
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis OMIM:233910
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Cerebral atrophy, Optic atrophy, Megaloblastic anemia, Atrophy of the spinal cord, Thrombocytopen... ORPHA:79282
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Cerebellar atrophy, Delayed CNS myelination, Neutropenia OMIM:619835
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired... OMIM:214500
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormality of pain sensation, Tremor, Gait disturbance, Ataxia, Poor coordination ORPHA:544254
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Fucosidosis
Cerebral atrophy, CNS hypomyelination, Vacuolated lymphocytes, Splenomegaly OMIM:230000
Snakebite Envenomation
Paralysis, Pseudobulbar paralysis, Thrombocytopenia, Respiratory paralysis ORPHA:449285
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... ORPHA:572
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Hemolytic anemia OMIM:612300
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Hyperkinetic movements, Gliosis, Tremor, Gait disturbance, Upper limb spasticity ORPHA:457240
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign, ... ORPHA:765
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Peripheral demyelinati... OMIM:252150
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Interictal epileptiform activity, EEG with irregular generaliz... ORPHA:1942
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Secondary Syringomyelia
Difficulty walking, Progressive cerebellar ataxia, Paresthesia, Paraplegia, Sensory ataxia, CNS d... ORPHA:99857
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Inability to walk, Spasticity, Tremor, Dystonia, Choreoathetosis OMIM:617664
Progressive Multifocal Leukoencephalopathy
Gait ataxia, CNS demyelination, Hemiplegia/hemiparesis, Parkinsonism, Abnormal oligodendroglia mo... ORPHA:217260
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:603909
Joubert Syndrome 33
Splenomegaly, Delayed CNS myelination OMIM:617767
Progressive Supranuclear Palsy
Bradykinesia, Falls, Gliosis, Tremor, Blepharospasm, Rigidity, Dystonia, Unsteady gait ORPHA:683
Leukodystrophy, Progressive, Early Childhood-Onset
Cerebral atrophy, Leukodystrophy, Optic disc pallor OMIM:617762
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Abnormal pyramidal sign, ... OMIM:272750
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Babinski sign, Dystonia, Ataxia, Leukodystrophy OMIM:618226
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis OMIM:620161
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Global brain atrophy, Axonal degeneration, Cerebellar atrophy, Optic neuropathy, D... OMIM:616811
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Impaired... OMIM:308230
Hengel-Maroofian-Schols Syndrome
Abnormal CNS myelination, Gait imbalance, Inability to walk, Tetraplegia, Spasticity, Upper motor... OMIM:619641
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
CNS hypomyelination, Accessory spleen OMIM:619306
Aceruloplasminemia
Limb ataxia, Akinesia, Hypochromic microcytic anemia, Torticollis, Chorea, Tremor, Blepharospasm,... ORPHA:48818
Schilder Disease
CNS demyelination, Ataxia, Ankle clonus ORPHA:59298
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Machado-Joseph Disease Type 1
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276238
Machado-Joseph Disease Type 2
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276241
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Chorea, Gliosis, Athetosis, ... OMIM:615273
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria OMIM:602481
Scheie Syndrome
Spastic paraparesis, Cerebral palsy, Abnormal nerve conduction velocity ORPHA:93474
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Leukodystrophy OMIM:612952
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegal... OMIM:612541
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Gait apraxia, Diffuse de... OMIM:600142
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Hypertonia, Chorea, Spasticity, Demyelinating peripheral neuropathy, Gait ataxia, ... ORPHA:255210
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Tremor, ... OMIM:615673
Warburg Micro Syndrome 4
Optic atrophy, Babinski sign, Inability to walk, Spastic tetraplegia, Decreased motor nerve condu... OMIM:615663
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Hyperkinetic movements, Increased circulating IgG le... ORPHA:297
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased sensory nerve conduction velocity, Facial palsy, Ataxia, Decreased motor nerve conducti... ORPHA:456312
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia OMIM:618086
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Oligozoospermia ORPHA:3000
Cockayne Syndrome
Optic atrophy, Hypertonia, Cerebral dysmyelination, Difficulty walking, Inability to walk, Limb h... ORPHA:191
Chromosome 8Q21.11 Deletion Syndrome
CNS hypomyelination OMIM:614230
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Syndromic Diarrhea
Hypoplasia of the thymus, Increased mean platelet volume, Splenomegaly, Lymphopenia, Thrombocytos... ORPHA:84064
Tay-Sachs Disease
Optic atrophy, Inability to walk, Ankle clonus, Fasciculations, Incoordination, Gliosis, Decerebr... ORPHA:845
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Truncal ataxia, Undetectable visual evoked potentials, Leukodystrophy OMIM:619051
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tip-toe gait, Hypertonia, Isometric tremor, Torticollis, Broad-based gait, Falls, Spasticity, Cer... OMIM:619475
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Positive Romberg sign, Truncal ataxia, Tremor, Spasticity, Abnormal auto... OMIM:105210
Typhoid
Hypertonia, Abnormal pulmonary interstitial morphology, Tremor, Ataxia, Splenomegaly, Lethargy ORPHA:99745
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Tremor, Abnormal auditory evoked potentials, ... OMIM:216400
Trichohepatoenteric Syndrome 1
Increased mean platelet volume, Thrombocytosis, Splenomegaly OMIM:222470
Oculopharyngodistal Myopathy
Paraplegia, Vocal cord paresis, Loss of ambulation, Difficulty walking ORPHA:98897
Developmental And Epileptic Encephalopathy 84
Babinski sign, Hypsarrhythmia, Chorea, Spasticity, Dystonia, Opisthotonus, Delayed CNS myelinatio... OMIM:618792
Pyruvate Carboxylase Deficiency
Athetosis, Leukodystrophy, Clonus OMIM:266150
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Difficulty walking, Truncal ataxia, Dysdiadochokinesis, Astrocytosis, P... ORPHA:309854
Young-Onset Parkinson Disease
Bradykinesia, Gait imbalance, Spasticity, Tremor, Male sexual dysfunction, Rigidity, Dystonia, Fe... ORPHA:2828
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypertonia, Lower limb spasticity, Hypsarrhythmia, Clonus, Myoclonic spasms, Cerebral hypomyelina... ORPHA:447997
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Broad-based gait, Tremor, Delayed myelination, Ataxia, Myoclonus, EEG with abnorm... ORPHA:98794
Poliomyelitis
Hyperkinetic movements, Inability to walk, Fasciculations, Paraparesis, Abnormal motor nerve cond... ORPHA:2912
Cockayne Syndrome Type 1
Optic atrophy, Difficulty walking, Lower limb spasticity, Tremor, Gait disturbance, Absent brains... ORPHA:90321
X-Linked Cerebral Adrenoleukodystrophy
Hoffmann sign, Difficulty walking, Inability to walk, Oculomotor apraxia, Lower limb spasticity, ... ORPHA:139396
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hypsarrhythmia, EEG with burst suppression, Delayed CNS myelination OMIM:619239
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia, Total anomalous pulmonary venous return ORPHA:487796
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Tremor, Abnormal auditory evoked potentials, ... OMIM:133540
Ataxia-Telangiectasia
T lymphocytopenia, Ataxia, Lymphopenia, Myoclonus, Tremor, Acute lymphoblastic leukemia, Dystonia... OMIM:208900
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormality of B cell physiology, Neutropenia in presence of anti-ne... OMIM:613179
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Akinesia, Resting tremor, Gliosis, Parkinsonism with favorable response to dopamine... ORPHA:411602
Rift Valley Fever
Anemia, Increased circulating IgG level, Decerebrate rigidity, Paraparesis, Increased circulating... ORPHA:319251
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Inability to walk, Truncal ataxia, Dysdiadochokinesis, Tremor, A... OMIM:617675
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Glioblastoma
Paralysis ORPHA:360
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Multiple Mitochondrial Dysfunctions Syndrome 3
Cerebral atrophy, Optic atrophy, Leukodystrophy OMIM:615330
Foodborne Botulism
Paralysis, Diaphragmatic paralysis, Cerebral palsy ORPHA:228371
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... OMIM:600802
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Cerebellar atrophy, Delayed myelination, CNS demyelination, Diffuse cerebral atrop... OMIM:214150
Supranuclear Palsy, Progressive, 1
Bradykinesia, Akinesia, Gait imbalance, Falls, Axial dystonia, Retrocollis, Astrocytosis, Gliosis... OMIM:601104
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... OMIM:618056
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Hypersegmentation of neutrophil nuclei, Dysmetria, Macrocytic anemia OMIM:615578
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Ataxia, Myoclonus, Leuko... OMIM:614299
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Hyperkinetic movements, Spasticity, Tremor, Dystonia, Ataxia, Opisthotonus... OMIM:616271
Insulinoma
Hyperinsulinemia, Tremor, Nonketotic hypoglycemia, Recurrent hypoglycemia, Hyperinsulinemic hypog... ORPHA:97279
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia ORPHA:48
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Wilson Disease
Decreased nerve conduction velocity, Abnormality of extrapyramidal motor function, Parkinsonism w... OMIM:277900
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysi... OMIM:168000
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Inability to walk, Tremor, Gait disturbance, Spastic paraple... ORPHA:167
Hyperkalemic Periodic Paralysis
Hypertonia, Periodic hyperkalemic paralysis, Fasciculations, Cerebral palsy, Gait disturbance ORPHA:682
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Pleural effusion, Intention tremor, Action tremor, Gait ataxia, Unsteady gai... OMIM:254900
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Jaberi-Elahi Syndrome
Optic atrophy, Inability to walk, Broad-based gait, Appendicular spasticity, Tremor, Gait ataxia,... OMIM:617988
Galloway-Mowat Syndrome 10
Cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination OMIM:619609
Amish Nemaline Myopathy
Tremor ORPHA:98902
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Falls, Abnormality of pain sensation, Impaired v... ORPHA:447753
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Decreased compound muscle action potential amplitude, Clonus OMIM:620080
Oculopharyngodistal Myopathy 4
Postural tremor, Tremor OMIM:619790
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, H... ORPHA:540
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Broad-based gait, Gliosis, Gait disturbance, Ataxia, CNS hypomyelination ORPHA:268261
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Gliosis, Cerebral dysmyelination OMIM:261515
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p... OMIM:146500
Brown-Vialetto-Van Laere Syndrome 1
Gait imbalance, Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Facial ... OMIM:211530
Acute Disseminated Encephalomyelitis
EEG with focal slow activity, EEG with focal spikes, Diaphragmatic paralysis, Interictal EEG abno... ORPHA:83597
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren... OMIM:301000
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Appendicular spasticity, Gliosis, Exaggerated startle response... OMIM:620451
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Hemolytic anemia ORPHA:713
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Paraganglioma, Glomus jugular tumor... OMIM:605373
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natural killer cell... ORPHA:158061
Porphyria, Acute Intermittent
Paralysis, Reduced erythrocyte porphobilinogen deaminase activity, Respiratory paralysis OMIM:176000
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Amyotrophic Lateral Sclerosis
Fasciculations, Babinski sign, Spasticity, Paralysis ORPHA:803
Wolfram Syndrome 1
Megaloblastic anemia, Tremor, Sideroblastic anemia, Ataxia, Thrombocytopenia, Diabetes mellitus OMIM:222300
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Peripheral hypomyelination, Chronic axonal neuropathy, Dysdiadochokinesis, Intention tremor, Ataxia OMIM:612780
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Subcortical cerebral atrophy, Abnormal CNS myelination, Anemia ORPHA:440713
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Tremor, ... ORPHA:263455
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation OMIM:110100
Waardenburg Syndrome, Type 2E
Cerebral hypomyelination OMIM:611584
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Cranial nerve compression, Paragang... ORPHA:94080
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis OMIM:188580
Sjogren-Larsson Syndrome
CNS demyelination OMIM:270200
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Nonprogressive cerebellar ataxia, Dystonia, Choreoathetosis, Leukodystrophy, Progressive spastic ... ORPHA:431361
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Abnormal CNS myelination OMIM:619053
Cockayne Syndrome Type 3
Difficulty walking, Demyelinating peripheral neuropathy, Astrocytosis, Intention tremor, Unsteady... ORPHA:90324
Kallmann Syndrome
Erectile dysfunction, Paraplegia, Tremor, Dyspareunia, Gait disturbance, Ataxia, Primary amenorrh... ORPHA:478
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Neurodegeneration With Brain Iron Accumulation 1
Bradykinesia, Babinski sign, Optic atrophy, Akinesia, Abnormality of extrapyramidal motor functio... OMIM:234200
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Truncal ataxia, Spasticity, Tremor, CNS demyelination, Peripheral demyelination, Dystonia, Ataxia... OMIM:220111
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Difficulty walking, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Optic disc pallor,... ORPHA:502423
De Sanctis-Cacchione Syndrome
Optic atrophy, Babinski sign, Hypertonia, Defective DNA repair after ultraviolet radiation damage... OMIM:278800
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... OMIM:612716
Inhalational Botulism
Paralysis ORPHA:254504
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Recurrent pneumonia, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Hyperglycinemia, Lactic Acidosis, And Seizures
Cerebral atrophy, Leukodystrophy OMIM:614462
Choreoacanthocytosis
Chorea, Lingual dystonia, Abnormal autonomic nervous system physiology, Limb dystonia, Head titub... ORPHA:2388
Friedreich Ataxia 2
Babinski sign, Decreased pyruvate carboxylase activity, Incoordination, Ataxia, Impaired vibrator... OMIM:601992
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Hypertonia, Limb hypertonia, Truncal ataxia, Spasticity, Tremor, Action tremor, At... ORPHA:3455
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Limb hypertonia, Athetosis, Tremor, Limb dystonia, Delayed myelination, Ataxi... ORPHA:572798
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... OMIM:187900
Niemann-Pick Disease Type C
Abnormal CNS myelination, Lower limb spasticity, Axial dystonia, Demyelinating peripheral neuropa... ORPHA:646
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ... OMIM:618213
Alg8-Cdg
Optic atrophy, Anemia, Cerebral cortical atrophy, Thrombocytopenia, Leukodystrophy ORPHA:79325
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Abnormal autonomic nervous system p... OMIM:256800
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Splenomegaly ORPHA:585
Tetanus
Hypertonia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Opisthotonus, Spastic... ORPHA:3299
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... OMIM:242700
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Tremor, Hypergonadotropic hypogonadism, Ataxia, Loss of ambulation, Myoclonus OMIM:607426
Glutaryl-Coa Dehydrogenase Deficiency
Fasting hypoglycemia, Chorea, Tremor, Athetosis, Poor motor coordination, Limb dystonia, Rigidity... ORPHA:25
Immunodeficiency 23
Abnormal CNS myelination, Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Pemphigus Erythematosus
Anti-acetylcholine receptor antibody positivity, Autoimmunity, Antinuclear antibody positivity, S... ORPHA:79480
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Leigh Syndrome
Optic atrophy, Hyperkinetic movements, Abnormality of extrapyramidal motor function, Chorea, Glio... ORPHA:506
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Hurler Syndrome
Abnormal pyramidal sign, Spastic paraparesis, Cerebral palsy, Abnormal nerve conduction velocity ORPHA:93473
Acute Transverse Myelitis
Babinski sign, Impaired proprioception, Orthostatic hypotension, Abnormality of extrapyramidal mo... ORPHA:139417
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Ataxia, Hypogonadism ORPHA:79095
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Hyperkinetic movements, Inability to walk, Oculomotor apraxia, Chorea, Gliosis, At... ORPHA:404454
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Oculomotor apraxia, Tremor, Gait disturbance, Ataxia ORPHA:220497
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
EEG with focal spike waves, Leukodystrophy ORPHA:370997
Combined Oxidative Phosphorylation Deficiency 4
Leukodystrophy OMIM:610678
X-Linked Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Gait disturbance, Vocal cord paralysis, Waddling gait ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Gait disturbance, Vocal cord paralysis, Waddling gait ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Tip-toe gait, Gait disturbance, Vocal cord paralysis, Waddling gait ORPHA:98853
Early Infantile Epileptic Encephalopathy
EEG with spike-wave complexes, Hypsarrhythmia, Spasticity, Tremor, Uni- and bilateral multifocal ... ORPHA:1934
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Aromatase Deficiency
Primary amenorrhea, Female infertility, Male infertility, Hypergonadotropic hypogonadism ORPHA:91
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cerebral atrophy, Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenom... OMIM:616084
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Spasticity, Vocal cord paralysis, Increased cup-to-disc ratio, Dystonia, Myoclonus ORPHA:500144
Unilateral Polymicrogyria
Abnormal posturing, Poor fine motor coordination, Involuntary movements, Hemiparesis, Myoclonus, ... ORPHA:268943
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Spasticity, ... OMIM:615512
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto... ORPHA:79124
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Hypertonia, Anemia, Oculomotor apraxia, Pancytopenia, Broad-based gait, Spastic para... ORPHA:2072
Encephalocraniocutaneous Lipomatosis
Hypertonia, Tetraplegia, Spasticity, Hemiparesis, Rigidity, Paralysis, Hemiplegia ORPHA:2396
Thyrotoxic Periodic Paralysis
Respiratory paralysis, Tetraplegia, Tremor, Periodic hypokalemic paresis, Paralysis ORPHA:79102
Hemophagocytic Lymphohistiocytosis, Familial, 2
Anemia, Hemophagocytosis, Pancytopenia, CNS demyelination, Leukopenia, Splenomegaly, Hepatospleno... OMIM:603553
Hyperlysinemia
Tip-toe gait, EEG with spike-wave complexes, Neck hypertonia, Tremor, Spastic tetraparesis, Poor ... ORPHA:2203
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Incoordination, Tremor, Unsteady gait, Ataxia, Abnormal pyramidal sign, Optic disc... OMIM:614947
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia... OMIM:612199
Andersen-Tawil Syndrome
Periodic paralysis, Periodic hyperkalemic paralysis, Periodic hypokalemic paresis ORPHA:37553
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination, Leukodystrophy, Neutropenia OMIM:615471
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Ataxia, Splenomegaly, Impaired T cell function OMIM:201100
Alexander Disease
Chorea, Tetraplegia, Tremor, Spasticity, Abnormal autonomic nervous system physiology, Gait distu... ORPHA:58
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Tsh-Secreting Pituitary Adenoma
Male hypogonadism, Erectile dysfunction, Decreased fertility in males, Tremor, Infertility, Impot... ORPHA:91347
Orofaciodigital Syndrome Xiv
CNS hypomyelination, Optic disc coloboma OMIM:615948
Alternating Hemiplegia Of Childhood
Paroxysmal dyskinesia, Oculomotor apraxia, Chorea, Tremor, Abnormal autonomic nervous system phys... ORPHA:2131
African Trypanosomiasis
Akinesia, Difficulty walking, Fasciculations, Tremor, Infertility, Impotence, Gait disturbance, I... ORPHA:3385
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Abnormal myelination ORPHA:67045
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial ne... ORPHA:276621
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Cerebral hypomyelination, Gait ataxia ORPHA:513456
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Babinski sign, Abnormality of the twelfth cranial ner... ORPHA:268882
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Rere-Related Neurodevelopmental Syndrome
CNS demyelination, Optic atrophy ORPHA:494344
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Myoclonus, Paralysis, Tetraparesis OMIM:203700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Dystonia, Loss of ambulation, Ataxia, Decreased number of peripheral myelinated... OMIM:256810
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cerebral atrophy, CNS demyelination OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Inability to walk, Vocal ... OMIM:617799
Gitelman Syndrome
Paralysis, Ataxia OMIM:263800
Aicardi-Goutieres Syndrome 1
Cerebral atrophy, Thrombocytopenia, Splenomegaly, CNS demyelination OMIM:225750
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Vocal cord paresis, Distal sensory impairment OMIM:606071
Hurler Syndrome
Splenomegaly, Neurodegeneration, Abnormal CNS myelination, Hepatosplenomegaly OMIM:607014
Mucopolysaccharidosis Type 2
Optic atrophy, Papilledema, Decreased nerve conduction velocity ORPHA:580
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers OMIM:223900
Combined Oxidative Phosphorylation Defect Type 23
Leukodystrophy ORPHA:444013
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor... ORPHA:572333
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Peroxisome Biogenesis Disorder 1B
Optic atrophy, Leukodystrophy OMIM:601539
Anaplastic Thyroid Carcinoma
Vocal cord paralysis ORPHA:142
Glossopharyngeal Neuralgia
Cranial nerve compression, Vocal cord paralysis, Schwannoma, Abnormal glossopharyngeal nerve morp... ORPHA:221098
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Abnormal CNS myelination, Inability to walk, Limb hypertonia, Hypsarrhythmia, Gliosis, Spasticity... OMIM:620371
Combined Oxidative Phosphorylation Deficiency 59
CNS demyelination OMIM:620646
Isolated Complex I Deficiency
Optic disc pallor, Ataxia, Leukodystrophy, Optic neuropathy ORPHA:2609
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity OMIM:270150
Biliary, Renal, Neurologic, And Skeletal Syndrome
Frontotemporal cerebral atrophy, CNS hypomyelination, Splenomegaly OMIM:619534
Hereditary Sensory And Autonomic Neuropathy Type 4
Difficulty walking, Distal sensory impairment, Impaired temperature sensation, Hyperesthesia, Abn... ORPHA:642
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial ne... ORPHA:29072
Igg4-Related Thyroid Disease
Increased circulating IgG4 level, Vocal cord paralysis ORPHA:64744
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Tongue fasciculations, Spasticity, Undetectable visual evoked potentials, Optic ne... OMIM:252010
Bohring-Opitz Syndrome
Delayed peripheral myelination OMIM:605039
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Distal Renal Tubular Acidosis
Paralysis, Hemolytic anemia ORPHA:18
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypertonia, Hypsarrhythmia, CNS demyelination, Dystonia, Spastic tetraplegia OMIM:620024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Leukodystrophy OMIM:616538
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Paresthesia ORPHA:285
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Glycogen Storage Disease Ii
Abnormal CNS myelination, Splenomegaly OMIM:232300
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Aplas... ORPHA:83471
Monosomy 18Q
Choreoathetosis, Abnormal myelination, Poor coordination ORPHA:1600
Aicardi-Goutières Syndrome
Hypertonia, Difficulty walking, Abnormality of extrapyramidal motor function, Demyelinating perip... ORPHA:51
Vici Syndrome
Abnormal posturing OMIM:242840
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Delayed peripheral myelination ORPHA:364577
Gitelman Syndrome
Paralysis, Iron deficiency anemia ORPHA:358
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Primary amenorrhea, Male infertility, Azoospermia ORPHA:90797
Mucopolysaccharidosis Type 3
Hypertonia, Spasticity, Gait disturbance, Vocal cord paresis, Ataxia, Splenomegaly, Loss of ambul... ORPHA:581
Pineoblastoma
Paralysis, Papilledema ORPHA:251909
Tyrosinemia, Type I
Periodic paralysis, Anemia, Splenomegaly OMIM:276700
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99228
Monosomy X
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Primary amenorrhea ORPHA:881
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Leukodystrophy OMIM:619575
Rabson-Mendenhall Syndrome
CNS demyelination ORPHA:769
46,Xy Partial Gonadal Dysgenesis
Male infertility, Azoospermia, Hypergonadotropic hypogonadism, Primary amenorrhea, Streak ovary, ... ORPHA:251510
Degcags Syndrome
Anemia, Iron deficiency anemia, Pancytopenia, Vocal cord paralysis, Abnormal spleen morphology, L... OMIM:619488
Parenteral Nutrition-Associated Cholestasis
Splenomegaly, Abnormality of cytokine secretion ORPHA:567983
Feingold Syndrome 1
Asplenia, Vocal cord paralysis, Polysplenia, Accessory spleen OMIM:164280
Schinzel-Giedion Syndrome
Hypertonia, Vocal cord paralysis, Spasticity, Myeloid leukemia ORPHA:798
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level, Pancytopenia OMIM:181000
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis ORPHA:324540
Codas Syndrome
Vocal cord paresis OMIM:600373
Van Esch-O'Driscoll Syndrome
Unilateral vocal cord paralysis, Spasticity OMIM:301030
Esophageal Atresia
Hypertonia, Vocal cord paresis ORPHA:1199
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Acrofacial Dysostosis, Cincinnati Type
Abnormality of coordination, Vocal cord paralysis, Lower limb spasticity, Myoclonus OMIM:616462
Williams-Beuren Syndrome
Incoordination, Vocal cord paralysis, Gait imbalance, Poor coordination OMIM:194050
Orofaciodigital Syndrome Type 14
Abnormal myelination ORPHA:434179

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mpz

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mpz.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of Mpzl3 function causes various skin abnormalities and greatly reduced adipose depots. The Journal of investigative dermatology (February 2014) Mpzl3tm1(KOMP)Mbp PMC4057944

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MGI Allele Allele Type Produced
Mpzem1(IMPC)Tcp Indel Mice, Tissue

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