Gene Summary

Name:
SPG11, spatacsin vesicle trafficking associated
Synonyms:
spastic paraplegia 11,  6030465E24Rik,  C530005A01Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased startle reflex Spg11em1(IMPC)J HOM Early adult 2.48×10-08
decreased exploration in new environment Spg11em1(IMPC)J HOM Early adult 3.76×10-05

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Viewing: all phenotypes

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.

Electroretinography 3

Fundus file

13 Images

X-ray

XRay Images Skull Lateral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Electrocardiogram (ECG)

Waveform Image

14 Images

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Spg11 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 associated to Spg11 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Spg11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Clonus, Babinski sign, Pallor of dorsal ... OMIM:602433
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Gliosis, Axonal degeneration, Fasciculations, Tetraplegia, Distal ... OMIM:604484
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Gait disturbance, Choreoathetosis, Basal gang... ORPHA:225154
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Hypoplasia of the pons, Fasciculations, Basal ganglia gliosis, At... OMIM:607596
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... OMIM:256600
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fascicu... OMIM:608030
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, B... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Amyotrophic lateral sclerosis OMIM:615515
Spinocerebellar Ataxia 13
Optic atrophy, Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia, Morphological a... OMIM:605259
Spinocerebellar Ataxia 10
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Decreased nerve cond... OMIM:603516
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Babinski sign, Upper limb spasticity, Spastic gait, Amyotrophic lateral sclerosis, Spas... OMIM:205100
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Abnormality of extrapyramidal motor function, Senile plaques, Astrocyt... ORPHA:100070
L-2-Hydroxyglutaric Aciduria
Optic atrophy, Cerebellar atrophy, Global brain atrophy, Gliosis, Leukoencephalopathy, Abnormalit... OMIM:236792
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Babinski sign, Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Cerebral cortical atrophy OMIM:615911
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Extrapyramidal d... OMIM:105550
Huntington Disease-Like 3
Dystonia, Caudate atrophy, Chorea, Abnormality of extrapyramidal motor function, Frontal cortical... OMIM:604802
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Pseudobulbar paralysis, Amyotrophic lateral scl... OMIM:105400
Motor Neuron Disease With Dementia And Ophthalmoplegia
Degeneration of anterior horn cells, Corticospinal tract pallor, Astrocytosis, Cerebral atrophy OMIM:600333
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower motor neuron morphol... OMIM:602099
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Paralysis, Axonal loss, Amyotrophic lateral sclerosis, Gliosis OMIM:300857
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Gait disturbance, Babinski sign, Abnormal astrocyte morphology, Leukoencephalopathy, Tremor, Tip-... ORPHA:83629
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Neuronal loss in central nervous system, Gliosis, Myoclonus, Abnormality of extrap... ORPHA:204
Adult Krabbe Disease
Clumsiness, Peripheral demyelination, Hemiplegia, Somatic sensory dysfunction, Gait disturbance, ... ORPHA:206448
Huntington Disease-Like 2
Involuntary movements, Gait disturbance, Abnormal corpus striatum morphology, Dystonia, Caudate a... ORPHA:98934
Amyotrophic Lateral Sclerosis 16, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper... OMIM:614373
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Gait disturbance, Distal sensory impairment, Axonal degeneration OMIM:616155
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... ORPHA:329228
Amyotrophic Lateral Sclerosis 8
Postural tremor, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Fascicul... OMIM:608627
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia, Limb ataxia, Difficulty walking ORPHA:363432
Spinocerebellar Ataxia 8
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Morphologi... OMIM:608768
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Gait disturbance, Babinski sign, Rigidity, Neuronal loss in central nervous system, Myo... OMIM:600795
Spastic Paraplegia 2, X-Linked
Optic atrophy, Degeneration of the lateral corticospinal tracts, Babinski sign, Dysmetria, Spasti... OMIM:312920
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction OMIM:612577
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Dystonia, Cerebellar atrophy, Decreased number of large periphera... OMIM:208920
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... OMIM:606482
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Global brain atrophy, Focal T2 hyperintense basal ganglia lesion, Spastic hemiparesis... ORPHA:282166
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired proprioception, Impaired temperature sensatio... DECIPHER:29
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Limb myoclonus, Paresthesia, Abnormality of extrapyramidal motor function, Morph... ORPHA:356
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Myoclonus, Fasciculations, Progressive cerebellar ataxia, Abnormal lower... ORPHA:95434
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells OMIM:271150
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Neurodegeneration, Leukoencephalopathy, Progressive leukoencephalop... OMIM:615889
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Degeneration of the lateral corticospinal tracts, Weakness due to upper motor neur... ORPHA:275872
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Tremor, Fasciculations, Degeneration of anterior horn... ORPHA:65684
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Motor axonal neuropathy, Facial palsy, Abnormal pyramidal sign, Sensory axonal neu... OMIM:256850
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Spasticity OMIM:611895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy,... OMIM:616437
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Amyotrophic lateral sclerosis, Lower limb spasticity, Fasciculations, Ankle clonus... OMIM:613954
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Spastic tetraplegia, Tetraplegia, Morphological abnormality of the corticospinal t... OMIM:607225
Spinal Muscular Atrophy, Type Iii
Limb fasciculations, Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells OMIM:253400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Fasciculations OMIM:619141
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Poor coordination, Failure to thrive, Decreased nerve conduction velocity, Impaired vibra... OMIM:238970
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations OMIM:613435
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Clonus, Opisthotonus, Amyotrophic lateral sclerosis, Hypertonia, Microcep... ORPHA:300605
Spinal Muscular Atrophy, Type Ii
Hand tremor, Tongue fasciculations, Degeneration of anterior horn cells OMIM:253550
Autosomal Dominant Spastic Paraplegia Type 8
Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus, Upper limb spasticity, S... ORPHA:100989
Amyotrophic Lateral Sclerosis 18
Spasticity, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations, Difficult... OMIM:159950
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Juvenile Huntington Disease
Dystonia, Cerebellar atrophy, Neuronal loss in basal ganglia, Rigidity, Chorea, Weight loss, Myoc... ORPHA:248111
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Obesity, Spastic ga... OMIM:604360
Autosomal Dominant Spastic Paraplegia Type 37
Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus, Spastic gait, Spinal cor... ORPHA:171612
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Astrocytosis, Ste... ORPHA:275864
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Amyotrophic lateral sclerosis, Spasticity, Stereotypy OMIM:612069
Autosomal Dominant Spastic Paraplegia Type 19
Impaired proprioception, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 73
Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb spastic... ORPHA:444099
Camos Syndrome
Optic atrophy, Progressive extrapyramidal movement disorder, Ataxia, Aplasia/Hypoplasia of the ce... ORPHA:83472
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:615957
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Dystonia, Cerebellar atrophy, Axonal loss, Rigidity, Neurodegeneration, Peripheral ... OMIM:617672
Frontotemporal Dementia
Parkinsonism, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Autosomal Dominant Spastic Paraplegia Type 42
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Spinal cor... ORPHA:171863
Spastic Paraplegia 8, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, Spastic g... OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... OMIM:600363
Mitochondrial Dna Depletion Syndrome 18
Clonus, Failure to thrive, Falls, Axonal degeneration, Tongue fasciculations OMIM:618811
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... OMIM:604168
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Gait disturbance, Dystonia, Temporal cortical atrophy, Amyotrophic lateral sclerosis, Facial pals... OMIM:167320
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Degeneration of the lateral corticospinal tracts, Cerebellar atrophy, Babinski sig... OMIM:607259
Dystonia 9
Dystonia, Paresthesia, Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodi... OMIM:601042
Machado-Joseph Disease Type 3
Clumsiness, Dystonia, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Dilated fo... ORPHA:276244
Spastic Paraplegia 3, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Paraplegia, Spastic gait, Lower ... OMIM:182600
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Morphological abnormality of the pyramidal tract, Abnormal pyramidal sign OMIM:301840
Dystonia 16
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... OMIM:612067
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia OMIM:551500
Autosomal Dominant Spastic Paraplegia Type 38
Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Spinal cord lesion... ORPHA:171617
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration, Decreased nerve conduction velocity, Abnormal cerebral white ... OMIM:618138
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Ubiquitin-positive cerebral inclusion bodies, Motor axonal neur... ORPHA:52430
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, Inability to walk, Broad... OMIM:615490
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Facial palsy, Truncal ti... OMIM:607483
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Morphol... OMIM:613135
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Peripheral axonal neuropathy, Cerebellar atrophy, Lower limb spasticity, Iron ... OMIM:619389
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Diaphragmatic paralysis, Small for gestational age, Failure to th... OMIM:604320
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Tremor, Im... OMIM:610245
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Gait disturbance, Abnormality of the spinal cord, Axonal degeneration, T... ORPHA:88628
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia OMIM:618369
Dystonia 32
T2 hypointense basal ganglia, Torticollis, Laryngeal dystonia, Brain atrophy, Limb dystonia OMIM:619637
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy OMIM:610951
Primary Lateral Sclerosis, Adult, 1
Babinski sign, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Abnormal upper motor neuro... OMIM:611637
Spinocerebellar Ataxia 29
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis atrophy, Cerebellar vermis h... OMIM:117360
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, H... OMIM:607341
Juvenile Primary Lateral Sclerosis
Gait imbalance, Spastic gait, Spastic dysarthria, Spastic tetraparesis, Spasticity, Abnormal pyra... ORPHA:247604
Huntington Disease-Like 1
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Autosomal Dominant Spastic Paraplegia Type 12
Impaired proprioception, Babinski sign, Degeneration of the lateral corticospinal tracts, Clonus,... ORPHA:100993
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Axonal loss, Frequent falls, Dysmetria, Spastic dysarthria, Progressiv... ORPHA:1175
Spastic Paraplegia 4, Autosomal Dominant
Babinski sign, Degeneration of the lateral corticospinal tracts, Paraplegia, Spastic gait, Lower ... OMIM:182601
Amyotrophic Lateral Sclerosis
Paralysis, Motor neuron atrophy, Neurodegeneration, Amyotrophic lateral sclerosis, Spasticity ORPHA:803
Aicardi-Goutieres Syndrome 1
Deep white matter hypodensities, Dystonia, Leukoencephalopathy, Abnormality of extrapyramidal mot... OMIM:225750
Spinocerebellar Ataxia Type 12
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Narp Syndrome
Babinski sign, Optic disc pallor, Myoclonic spasms, Corticospinal tract atrophy, Progressive gait... ORPHA:644
Diaminopentanuria
Neurodegeneration, Ataxia, Spasticity OMIM:222350
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Peripheral axonal neuropathy, Cerebellar atrophy, Dysmetria, Steppage gait, Leukoencephalopathy, ... OMIM:618387
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Atrophy/Degeneration affec... OMIM:612319
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Cerebellar atrophy, Failure to thrive, Neuronal loss in central nervous system, Gliosi... OMIM:203700
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Babinski sign, Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis,... OMIM:221770
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Cerebellar atrophy, Babinski sign, Dysmetria, Chorea, Tremor, Ataxia, Parkins... OMIM:618093
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syste... OMIM:607136
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Falls, Bradykinesi... OMIM:617225
Familial Congenital Mirror Movements
Clumsiness, Dysgenesis of the hippocampus, Cerebral palsy, Morphological abnormality of the corti... ORPHA:238722
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Facial palsy, Degeneration of anterior horn cells OMIM:301830
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts, Spastic gait, Spinal cord lesion, Lower limb sp... ORPHA:320355
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Vocal cord paresis, Distal se... ORPHA:600
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Cerebellar atrophy, Brain atrophy, Microcephaly OMIM:618741
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Distal sensory impairment, Ab... OMIM:606070
Neurodegeneration With Brain Iron Accumulation 6
Gait disturbance, Dystonia, Rigidity, Neurodegeneration, Oromandibular dystonia, Motor axonal neu... OMIM:615643
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Trophic limb changes, Axonal loss, Gliosis, Decreased nerve conduction velocity, Enhanced neuroto... OMIM:118301
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... OMIM:143100
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Dystonia, Global brain atrophy, Axonal degen... OMIM:616811
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Dysmetria, Spastic gait, Lower l... OMIM:610357
Primary Lateral Sclerosis, Juvenile
Babinski sign, Spastic gait, Spastic dysarthria, Spasticity of facial muscles, Spasticity of phar... OMIM:606353
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Huntington Disease
Clumsiness, Gait disturbance, Dystonia, Clonus, Gait imbalance, Involuntary movements, Rigidity, ... ORPHA:399
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Distal sensory impairment, Peripheral axonal degeneration, Decreased number of peripheral myelina... OMIM:608720
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Myoclonic spasms, Poor coordination, Global brain atrophy, Diffuse cerebellar a... ORPHA:478029
Parkinson-Dementia Syndrome
Parkinsonism, Rigidity, Tremor, Morphological abnormality of the pyramidal tract, Abnormal pyrami... OMIM:260540
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent li... ORPHA:79263
Dihydropyrimidinase Deficiency
Extrapyramidal dyskinesia, Morphological abnormality of the pyramidal tract, Abnormal cerebral wh... OMIM:222748
Polyglucosan Body Neuropathy, Adult Form
Gait disturbance, Peripheral axonal neuropathy, Paresthesia, Distal sensory impairment, Tetrapare... OMIM:263570
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Megalencephaly, Slender build, Astrocytosis, Inability to walk, Difficulty walking OMIM:611087
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Ataxia, S... OMIM:607694
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor fu... OMIM:300894
Spinocerebellar Ataxia Type 17
Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... ORPHA:98759
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Neuronopathy, Distal Hereditary Motor, Type Viib
Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Adrenomyeloneuropathy
Peripheral axonal degeneration, Babinski sign, Atrophy/Degeneration involving the corticospinal t... ORPHA:139399
Idiopathic Camptocormia
Dystonia, Abnormal pons morphology, Amyotrophic lateral sclerosis, Lewy bodies, Syringomyelia, Ab... ORPHA:1320
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Astrocytosis OMIM:172500
Cerebrotendinous Xanthomatosis
Long-tract signs, Global brain atrophy, Axonal degeneration, Paraparesis, Abnormal pyramidal sign... ORPHA:909
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Intention tremor, Ataxia, Spasticity, Gait ataxia, A... OMIM:215470
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Rigidity, Neuronal loss in central nervous system, Gliosis, Leukoencephalopathy, Bradykinesia, Sh... OMIM:221820
Christianson Syndrome
Dystonia, Cachexia, Cerebellar atrophy, Neuronal loss in central nervous system, Stereotypy, Micr... ORPHA:85278
Spastic Paraplegia 79, Autosomal Recessive
Optic atrophy, Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, ... OMIM:615491
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Ataxia, Oculomot... OMIM:617633
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady g... OMIM:213200
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Lewy bodies OMIM:619133
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Primary Lateral Sclerosis
Babinski sign, Weakness due to upper motor neuron dysfunction, Cervical spinal cord atrophy, Spas... ORPHA:35689
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Peripheral axonal neuropathy, Facial diplegia, Inability to walk, Abnormal anterior hor... OMIM:611890
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Failure to thrive, Leukoencephalopath... OMIM:618226
Optic Atrophy 11
Optic atrophy, Facial diplegia, Dysmetria, Leukoencephalopathy, Hyperactivity, Ataxia, Brain atro... OMIM:617302
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Corticospinal tract hypoplasia, Pachygyria, Short corpus callosum, Ataxia,... ORPHA:255138
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Inability to ... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Optic disc pallor, Dysmetria, Cerebellar vermis atrophy, Ataxi... OMIM:616204
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal periventricular white matter morphology, Tongue fasciculations, Abnormal anterior horn c... ORPHA:1145
Gerstmann-Straussler Disease
Parkinsonism, Cerebellar atrophy, Rigidity, Weight loss, Myoclonus, Bradykinesia, Tremor, Truncal... OMIM:137440
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Polymicrogyria, Aplasia/Hypoplasia of the pyramidal tract, Microcephaly OMIM:619602
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral white matter atrophy, Tetraplegia,... ORPHA:369939
Friedreich Ataxia 2
Babinski sign, Abnormality of the medulla oblongata, Abnormality of the dorsal column of the spin... OMIM:601992
Ane Syndrome
Motor neuron atrophy, Pituitary hypothyroidism, Anterior pituitary hypoplasia, Decreased response... ORPHA:157954
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Impaired proprioception, Babinski sign, Abnormality of the medulla oblongata, Abnormality of the ... OMIM:302900
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia, Microcephaly ORPHA:438134
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Cerebral cortical hemiatrophy, Bradykinesia, Hemiparesis, Tremor, Brain a... ORPHA:306669
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Waddling gait, Difficulty walking, Abnormal lower motor neuron morphology OMIM:611067
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Gait disturbance, Decreased nerve conduction velocity, Distal sensory impai... OMIM:615284
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Brain atrophy, Cerebral atrophy... ORPHA:85179
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Azoospermia, Torticollis, Leukoencephalopathy, Intention tremor... OMIM:613724
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Failure to thrive, Brain atrophy, Abnormal pyramidal sign, Lethargy OMIM:618228
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Spinocerebellar Ataxia 34
Peripheral axonal neuropathy, Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdi... OMIM:133190
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Ataxia, Brain atrophy, Broad-based gait OMIM:206570
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Gait disturbance, Dystonia, Rigidity, Abnormal globus pallidus morphology, Spastic paraparesis, B... ORPHA:309854
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Dystonia, Optic atrophy, Leukoencephalopathy, Abnormality of extrapyramidal motor function, Tremo... OMIM:612199
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Weight loss, Slender build, Ataxia, Abnormal cerebral white matter morphology OMIM:613662
Friedreich Ataxia And Congenital Glaucoma
Babinski sign, Abnormality of the medulla oblongata, Abnormality of the dorsal column of the spin... OMIM:229310
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy, Failure to thrive, Brain atrophy, Spasticity, Microcephaly OMIM:618229
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Gait disturbance, Cerebellar atrophy, Dystonia, Babinski sign, Neurodegeneration, ... OMIM:614298
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Babinski sign, Rigidity, Writer's cramp, Choreoathetosis, Neurodegeneration, Chorea, Br... OMIM:606159
Riboflavin Transporter Deficiency
Cachexia, Abnormal cranial nerve morphology, Optic disc pallor, Myoclonus, Facial palsy, Tremor, ... ORPHA:97229
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Weight loss, Cachexia, Gait ataxia OMIM:612075
Spinocerebellar Ataxia Type 19/22
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... ORPHA:98772
Huntington Disease-Like 2
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Optic atrophy, Limb hypertonia, Rigidity, Failure to thrive, Myoclonus, Ab... ORPHA:442835
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Babinski sign, Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Progress... OMIM:612020
Pelizaeus-Merzbacher Disease
Optic atrophy, Failure to thrive in infancy, Cachexia, Gait disturbance, Dystonia, Choreoathetosi... ORPHA:702
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Brain atrophy, Decreased body weight, Microcephaly OMIM:278760
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Pulmonary Blastoma
Weight loss ORPHA:64741
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Neurodegeneration, Chorea,... OMIM:610217
Machado-Joseph Disease
Dystonia, Babinski sign, Cerebellar atrophy, Rigidity, Dilated fourth ventricle, Gliosis, Abnorma... OMIM:109150
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonus, Brain atrophy, Lethargy OMIM:618225
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Brain atrophy, Spasticity, Decreased response to growth hormone... OMIM:615286
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Facial palsy, Astrocytosis, Pachygyria, Inability to walk, Cerebral edem... ORPHA:258
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation OMIM:619405
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atrophy, Impaired tactile sensation, Gai... OMIM:619092
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Rigidity, Neurodegeneration, Spastic tetraplegia, Ataxia, Cerebellar hypoplasia, A... OMIM:618476
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Optic atrophy, Dystonia, Cerebellar atrophy, Failure to thrive, Abnormality of extrapyramidal mot... OMIM:614739
Krabbe Disease
Progressive spasticity, Optic atrophy, Failure to thrive, Neurodegeneration, Peripheral demyelina... OMIM:245200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Dystonia, Neurodegeneration, Chorea, Gliosis, Ataxia, Cerebral edema, Abnormal cerebral white mat... OMIM:618321
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Martsolf Syndrome 2
Spastic diplegia, Brain atrophy, Dilation of lateral ventricles, Decreased body weight, Hypoplasi... OMIM:619420
Hereditary Late-Onset Parkinson Disease
Dystonia, Rigidity, Frequent falls, Weight loss, Gliosis, Shuffling gait, Bradykinesia, Lewy bodi... ORPHA:411602
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Abnormality of peripheral nerve conduction, Cere... ORPHA:90324
Allan-Herndon-Dudley Syndrome
Dystonia, Failure to thrive in infancy, Babinski sign, Limb hypertonia, Small for gestational age... ORPHA:59
Kanzaki Disease
Peripheral axonal neuropathy, Axonal degeneration, Distal sensory impairment, Cerebral atrophy, W... OMIM:609242
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Optic disc pallor, Opisthotonus, Frequent falls, Weight loss, Inability to walk... ORPHA:216866
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... OMIM:616239
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Myelopathy, Cerebellar edema, Leukoencephalopathy, Tremor, Ataxia, Cerebral edema, Brain atrophy,... OMIM:617186
Tuberculosis
Weight loss ORPHA:3389
Galloway-Mowat Syndrome 5
Peripheral demyelination, Pachygyria, Ataxia, Brain atrophy, Spasticity, Microcephaly OMIM:617731
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Cachexia, Cerebellar atrophy, Babinski sign, Facial diplegia, Spasticity, Hypoplasia of... OMIM:618186
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Flynn-Aird Syndrome
Cachexia, Impaired pain sensation, Ataxia, Cerebral calcification, Cerebral cortical atrophy ORPHA:2047
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Global brain atrophy, Inability to walk, Hypertonia, Spas... OMIM:616801
Isaac Syndrome
Distal sensory impairment, Weight loss, Fasciculations ORPHA:84142
Tay-Sachs Disease
Psychomotor deterioration, Dementia, Apathy, Exaggerated startle response OMIM:272800
Fatal Familial Insomnia
Weight loss, Neuronal loss in central nervous system, Myoclonus, Ataxia OMIM:600072
Rett Syndrome
Dystonia, Cachexia, Truncal ataxia, Spasticity, Secondary microcephaly, Gait ataxia, Cerebral cor... OMIM:312750
Gm2 Gangliosidosis, Ab Variant
Dystonia, Punctate periventricular T2 hyperintense foci, Neurodegeneration, Chorea, Exaggerated s... ORPHA:309246
Stiff Person Spectrum Disorder
Agoraphobia, Anxiety, Emotional lability, Exaggerated startle response ORPHA:3198
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Neurodegeneration, Paraparesis, Slurred speech, Incoordin... OMIM:300100
Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:98293
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Pyruvate Dehydrogenase E2 Deficiency
Gait disturbance, Paroxysmal dystonia, Arm dystonia, Babinski sign, Neurodegeneration, Speech apr... ORPHA:79244
Spastic Paraplegia 9A, Autosomal Dominant
Gait disturbance, Babinski sign, Lower limb spasticity, Impaired vibratory sensation, Spastic par... OMIM:601162
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss, Adrenocorticotropic hormone excess ORPHA:100083
Gm2-Gangliosidosis, Ab Variant
Paralysis, Dystonia, Neurodegeneration, Chorea, Exaggerated startle response, Spastic tetraparesi... OMIM:272750
Allergic Bronchopulmonary Aspergillosis
Weight loss, Cerebral cortical atrophy ORPHA:1164
Idiopathic Achalasia
Weight loss ORPHA:930
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Ataxia, Unsteady gait, Microcephaly OMIM:615919
Oculopharyngodistal Myopathy
Paraplegia, Weight loss, Vocal cord paresis, Loss of ability to walk, Difficulty walking ORPHA:98897
Autosomal Recessive Spastic Paraplegia Type 11
Progressive spasticity, Gait disturbance, Hypothalamic atrophy, Peripheral axonal neuropathy, Par... ORPHA:2822
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Motor axonal neuropathy, Fasciculations, Atrophy of the spinal cord, Somatic sensory dysfunction,... ORPHA:466768
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Cachexia, Peripheral axonal neuropathy, Paresthesia, D... ORPHA:298
Neurodegeneration With Brain Iron Accumulation 1
Cerebral degeneration, Global brain atrophy, Abnormal pyramidal sign, Gait disturbance, Eyelid ap... OMIM:234200
Smith-Magenis Syndrome
Gait disturbance, Failure to thrive in infancy, Impaired pain sensation, Corticospinal tract hypo... ORPHA:819
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Gait disturbance, Failure to thrive, Lower limb spasticity, Atrophy of the spinal ... ORPHA:395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Cerebellar cyst, Exaggerated startle response, Lissencephaly, Pachygyria, Polymicr... OMIM:253800
Cerebral Visual Impairment
Central nervous system degeneration, Optic atrophy, Clumsiness, Optic disc pallor, Cerebral palsy... ORPHA:447788
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Frequent falls, Weight loss, Loss of ability to walk, Ataxia, Spastic tetraparesis... ORPHA:3208
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Absent septum pellucidum, Corticospinal tract hypoplasia, Spasticity, Spastic paraplegia, Agenesi... OMIM:307000
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Decreased nerve conduction velocity, Ataxia, Cerebral calcification, Microcephaly ORPHA:1933
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal lower motor neuron morphology ORPHA:93941
Aicardi-Goutieres Syndrome 9
Optic atrophy, Dystonia, Failure to thrive, Weight loss, Diffuse leukoencephalopathy, Spastic tet... OMIM:619487
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss, Myoclonus, Spinal cord compression, Ataxia, Ganglioneuroma OMIM:256700
Choreoacanthocytosis
Oromandibular dystonia, Phonic tics, Frontal cortical atrophy, Abnormal hippocampus morphology, L... ORPHA:2388
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Infantile Krabbe Disease
Optic atrophy, Hypointensity of cerebral white matter on MRI, Cachexia, Opisthotonus, Failure to ... ORPHA:206436
Supranuclear Palsy, Progressive, 1
Parkinsonism, Neuronal loss in basal ganglia, Gait imbalance, Axial dystonia, Rigidity, Eyelid ap... OMIM:601104
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Chorea, Hyperactivity, Ataxia, Hypertonia, Microcephaly ORPHA:52503
Gm1 Gangliosidosis
Optic atrophy, Dystonia, Gait disturbance, Failure to thrive, Weight loss, Abnormality of extrapy... ORPHA:354
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Hereditary Central Diabetes Insipidus
Weight loss, Lethargy ORPHA:30925
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Perry Syndrome
Dystonia, Rigidity, Weight loss, Bradykinesia, Tremor, Short stepped shuffling gait, Akinesia, Pa... OMIM:168605
Supranuclear Palsy, Progressive, 2
Postural tremor, Parkinsonism, Neuronal loss in basal ganglia, Gait imbalance, Axial dystonia, Ri... OMIM:609454
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Glossopharyngeal Neuralgia
Weight loss, Cranial nerve compression, Abnormal glossopharyngeal nerve morphology, Vocal cord pa... ORPHA:221098
Chronic Hiccup
Weight loss ORPHA:396
Multiple System Atrophy 1, Susceptibility To
Babinski sign, Rigidity, Neurodegeneration, Bradykinesia, Tremor, Ataxia, Olivopontocerebellar at... OMIM:146500
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Oromandibular Dystonia
Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Hyperkinetic movements, Generaliz... ORPHA:93958
Japanese Encephalitis
Decreased motor nerve conduction velocity, Cerebral edema, Hyperintensity of MRI T2 signal of the... ORPHA:79139
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Moynahan Syndrome
Cachexia, Microcephaly ORPHA:2574
Central Diabetes Insipidus
Failure to thrive, Weight loss, Lethargy ORPHA:178029
Classic Hodgkin Lymphoma
Ataxia, Weight loss ORPHA:391
Xfe Progeroid Syndrome
Optic atrophy, Cachexia, Microcephaly, Poor coordination OMIM:610965
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy, Hypoplasia of the corpus callosum, Distal sensory impairment OMIM:616668
Erythrokeratodermia Variabilis
Weight loss, Microcephaly ORPHA:317
Non-Functioning Paraganglioma
Weight loss, Cranial nerve compression, Vocal cord paralysis, Paraganglioma, Tremor, Paragangliom... ORPHA:94080
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Oculopharyngodistal Myopathy 1
Weight loss, Facial palsy, Tremor, Ataxia, Brain atrophy, Abnormal cerebral white matter morpholo... OMIM:164310
Stiff-Person Syndrome
Agoraphobia, Anxiety, Opisthotonus, Exaggerated startle response OMIM:184850
Holocarboxylase Synthetase Deficiency
Ataxia, Weight loss, Lethargy ORPHA:79242
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Hypointensity of cerebral white matter on MRI, Cachexia, Weight loss, Slender build, Leukoencepha... OMIM:603041
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Mulibrey Nanism
Cachexia ORPHA:2576
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss, Lethargy OMIM:143880
Familial Colorectal Cancer Type X
Gait disturbance, Paresthesia, Glioblastoma multiforme, Weight loss, Pituitary adenoma, Hypertoni... ORPHA:440437
Lynch Syndrome
Gait disturbance, Paresthesia, Glioblastoma multiforme, Weight loss, Pituitary adenoma, Hypertoni... ORPHA:144
Rhabdoid Tumor
Cerebral palsy, Weight loss, Hemiplegia ORPHA:69077
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Wilson Disease
Clumsiness, Failure to thrive, Weight loss, Difficulty walking, Increased body weight ORPHA:905
Eosinophilic Granulomatosis With Polyangiitis
Central nervous system degeneration, Gait disturbance, Weight loss, Hemiplegia/hemiparesis ORPHA:183
Mu-Heavy Chain Disease
Weight loss ORPHA:100024
Cockayne Syndrome
Limb hypertonia, Progressive gait ataxia, Cerebral atrophy, Basal ganglia calcification, Somatic ... ORPHA:191
Polyarteritis Nodosa
Weight loss, Polyneuritis, Sensory axonal neuropathy ORPHA:767
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia, Lethargy ORPHA:42
Liposarcoma
Weight loss, Paresthesia ORPHA:69078
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss, Pituitary adenoma, Carcinoid tumor, Pituitary prolactin cel... ORPHA:97289
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Eosinophilic Fasciitis
Weight loss, Paresthesia ORPHA:3165
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Abnormal superior cerebellar peduncle morphology, Weight loss, Spinal cord tumor, So... ORPHA:370348
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Mcdonough Syndrome
Cachexia ORPHA:2471
Follicular Lymphoma
Weight loss ORPHA:545
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Cranial nerve compression, ... ORPHA:276621
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Hyperesthesia, Spastic tetraplegia, Severe failure to thrive, Hypoplasia of the corpus ... ORPHA:371364
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss ORPHA:99868
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Pleural Mesothelioma
Weight loss ORPHA:50251
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Mast Cell Sarcoma
Weight loss ORPHA:66661
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Hypertonia ORPHA:1389
Hirschsprung Disease
Weight loss, Failure to thrive in infancy ORPHA:388
Renpenning Syndrome
Cachexia, Microcephaly ORPHA:3242
Pfapa Syndrome
Weight loss ORPHA:42642
Williams Syndrome
Involuntary movements, Gait disturbance, Failure to thrive in infancy, Chiari malformation, Gait ... ORPHA:904
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Acrodermatitis Enteropathica
Failure to thrive, Weight loss, Cerebral cortical atrophy ORPHA:37
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss, Spastic hemiparesis, Leukoencephalopathy, Myoclonus, Ataxia, Spasticity, Microcephal... ORPHA:20
Takayasu Arteritis
Weight loss ORPHA:3287
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss, Lewy bodies OMIM:605543
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis OMIM:188580
Beta-Ketothiolase Deficiency
Ataxia, Weight loss, Extrapyramidal dyskinesia, Spasticity ORPHA:134
Immunodeficiency 27A
Weight loss OMIM:209950
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Periodic paralysis OMIM:613239
Focal Myositis
Weight loss ORPHA:48918
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Giant Cell Arteritis
Optic atrophy, Weight loss, Ataxia, Paresthesia ORPHA:397
Aromatic L-Amino Acid Decarboxylase Deficiency
Emotional lability, Irritability, Exaggerated startle response, Limb tremor OMIM:608643
Riddle Syndrome
Clumsiness, Gait disturbance, Poor hand-eye coordination, Weight loss, Ataxia, Abnormal cerebral ... ORPHA:420741
Polymyositis
Gait disturbance, Weight loss ORPHA:732
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Weight loss, Cachexia ORPHA:1979
Celiac Disease, Susceptibility To, 1
Failure to thrive, Ataxia, Weight loss, Cerebral calcification OMIM:212750
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Tremor, Hyperactivity, Broad-based gait, Obesity, Microcephaly ORPHA:85293
African Trypanosomiasis
Abnormal prolactin level, Gait disturbance, Impaired proprioception, Involuntary movements, Paral... ORPHA:3385
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Optic atrophy, Cachexia, Ataxia, Spasticity, Microcephaly ORPHA:220295
Isolated Permanent Neonatal Diabetes Mellitus
Peripheral axonal neuropathy, Failure to thrive, Weight loss, Ataxia, Apraxia ORPHA:99885
Anaplastic Thyroid Carcinoma
Weight loss, Vocal cord paralysis ORPHA:142
Poems Syndrome
Paresthesia, Weight loss, Hyperesthesia, Papilledema, Increased circulating prolactin concentration ORPHA:2905
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss ORPHA:47
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Weight loss, Microcephaly ORPHA:251071
Kaposi Sarcoma
Weight loss ORPHA:33276
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Weight loss, Cranial nerve compression, ... ORPHA:29072
Osteosarcoma
Weight loss ORPHA:668
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Whipple Disease
Ataxia, Cachexia, Myoclonus, Abnormal pyramidal sign ORPHA:3452
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Leishmaniasis
Weight loss ORPHA:507
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Symptomatic Form Of Hemochromatosis Type 1
Weight loss, Lethargy ORPHA:465508
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age, Hand tremor ORPHA:424
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Deafness-Lymphedema-Leukemia Syndrome
Weight loss ORPHA:3226
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Anxiety, Exaggerated startle response ORPHA:438216
Tetrasomy 12P
Cachexia ORPHA:884
Erdheim-Chester Disease
Ataxia, Weight loss, Abnormal cerebellum morphology ORPHA:35687
Majeed Syndrome
Failure to thrive, Weight loss, Cachexia ORPHA:77297
Desmoplastic Small Round Cell Tumor
Weight loss, Cachexia ORPHA:83469
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Chronic Beryllium Disease
Weight loss ORPHA:133
Sandhoff Disease
Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Bullous Pemphigoid
Weight loss ORPHA:703
Medullary Thyroid Carcinoma
Weight loss, Pheochromocytoma ORPHA:1332
Cap Polyposis
Weight loss ORPHA:160148
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Late-Onset Isolated Acth Deficiency
Failure to thrive, Weight loss, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Lethargy ORPHA:199299
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Congenital Tufting Enteropathy
Failure to thrive, Weight loss, Optic disc coloboma ORPHA:92050
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Generalized Pseudohypoaldosteronism Type 1
Weight loss, Failure to thrive in infancy ORPHA:171876
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor ORPHA:100080
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Weight loss, Pulmonary carcinoid tumor ORPHA:97287
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Pheochromocytoma, Pituitary null cell adenoma, Ependymoma, Pituitary ... ORPHA:652
Trisomy 18
Cachexia, Chiari malformation, Anencephaly, Hypertonia, Spina bifida, Aplasia/Hypoplasia of the c... ORPHA:3380
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Yao Syndrome
Weight loss OMIM:617321
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia, Microcephaly ORPHA:217346
Loeffler Endocarditis
Weight loss ORPHA:75566
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss, Tetraplegia, Azoospermia ORPHA:361
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Tay-Sachs Disease
Tremor, Anxiety, Exaggerated startle response, Memory impairment ORPHA:845
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss, Hand tremor ORPHA:99819
Alveolar Echinococcosis
Ataxia, Weight loss, Hemiparesis ORPHA:284
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Paresthesia OMIM:175500
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor ORPHA:100082
Short Syndrome
Weight loss ORPHA:3163
Simple Cryoglobulinemia
Weight loss, Paresthesia, Spontaneous pain sensation ORPHA:91139
Felty Syndrome
Weight loss ORPHA:47612
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Weight loss, Carcinoid tumor ORPHA:100085
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Silver-Russell Syndrome
Obesity, Secondary microcephaly, Failure to thrive in infancy, Cachexia ORPHA:813
Igg4-Related Aortitis
Weight loss ORPHA:449400
Rheumatoid Arthritis
Weight loss OMIM:180300
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Nephroblastoma
Weight loss ORPHA:654
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Paralysis, Cachexia, Azoospermia, Papilledema, Hypertonia, Oculomotor apraxia, Broad-based gait, ... ORPHA:2072
Aredyld Syndrome
Cachexia ORPHA:1133
Ménétrier Disease
Weight loss ORPHA:2494
Adrenocortical Carcinoma
Weight loss, Increased body weight, Adrenocorticotropic hormone deficiency ORPHA:1501
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Cognitive impairment, Exaggerated startle response OMIM:617527
Malignant Atrophic Papulosis
Pain insensitivity, Weight loss ORPHA:679
Zollinger-Ellison Syndrome
Neuroendocrine neoplasm, Pituitary null cell adenoma, Pituitary growth hormone cell adenoma, Weig... ORPHA:913
Acute Monoblastic/Monocytic Leukemia
Weight loss ORPHA:514
Refractory Celiac Disease
Weight loss ORPHA:398063
Wolman Disease
Cachexia ORPHA:75233
Behçet Disease
Gait disturbance, Paresthesia, Weight loss, Hemiparesis, Ataxia, Abnormal pyramidal sign ORPHA:117
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Thyrotoxic Periodic Paralysis
Paralysis, Weight loss, Respiratory paralysis, Tremor, Tetraplegia, Periodic hypokalemic paresis,... ORPHA:79102
Multiple Myeloma
Weight loss, Paresthesia, Spinal cord compression ORPHA:29073
Norrie Disease
Optic atrophy, Cachexia, Clonus, Abnormality of the diencephalon, Failure to thrive, Stereotypy, ... ORPHA:649
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Weight loss ORPHA:85450
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Weight loss, Secondary growth hormone deficiency, Abnormality of the pi... ORPHA:91347
Pemphigus Vulgaris
Weight loss ORPHA:704
Primary Myelofibrosis
Cachexia ORPHA:824
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Neuroendocrine Tumor Of Stomach
Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor, Paraganglioma ORPHA:100075
Camurati-Engelmann Disease
Optic atrophy, Cachexia, Optic nerve compression, Slender build, Facial palsy, Ataxia, Waddling gait ORPHA:1328
Solitary Fibrous Tumor/Hemangiopericytoma
Weight loss ORPHA:2126
Pneumocystosis
Weight loss ORPHA:723
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Familial Thrombocytosis
Weight loss, Paresthesia ORPHA:71493
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Fryns-Smeets-Thiry Syndrome
Cachexia, Microcephaly ORPHA:2058
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Ppoma
Weight loss, Increased circulating gonadotropin level, Pituitary adenoma, Intestinal carcinoid, E... ORPHA:97278
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Thymoma
Weight loss ORPHA:99867
Schwartz-Jampel Syndrome
Gait disturbance, Cachexia, Attention deficit hyperactivity disorder, Hypertonia, Decreased body ... ORPHA:800
Grfoma
Weight loss, Increased circulating gonadotropin level, Pituitary adenoma, Intestinal carcinoid, E... ORPHA:97261
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Cystic Echinococcosis
Weight loss ORPHA:400
Budd-Chiari Syndrome
Weight loss ORPHA:131
Vipoma