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Gene: Reln MGI:103022

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Gene Summary

Name:
reelin
Synonyms:
N/A

Order Alleles

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
enlarged spleen Relnem1(IMPC)Mbp HET Early adult 0.00
abnormal skin morphology Relnem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, incomplete penetrance Relnem1(IMPC)Mbp HOM   Early adult 0.00
abnormal uterus morphology Relnem1(IMPC)Mbp HET Early adult 0.00
hydrometra Relnem1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Relnem1(IMPC)Mbp HET Early adult 0.00
male infertility Relnem1(IMPC)Mbp HOM Early adult 0.00
female infertility Relnem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Relnem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Relnem1(IMPC)Mbp HET Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

59 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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Human diseases caused by Reln 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 Reln by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Dysphagia, Agenesis of corpus callosum, Intrauterine growth re... ORPHA:89844
Lissencephaly 2
Thick cerebral cortex, Lissencephaly, 4-layered lissencephaly, Microcephaly OMIM:257320
Autosomal Dominant Epilepsy With Auditory Features
Abnormal autonomic nervous system physiology ORPHA:101046
Epilepsy, Familial Temporal Lobe, 7
OMIM:616436

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Glutathionuria
Tremor OMIM:231950
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Truncal ataxia, Cerebral atrophy OMIM:615268
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Intrauterine growth retardation, Lissencephaly, Spastic tetraplegia... OMIM:615411
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 5
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance ORPHA:98766
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait OMIM:615945
Spinocerebellar Ataxia 43
Rigidity, Tremor, Cerebellar vermis atrophy, Ataxia, Distal sensory impairment, Limb ataxia, Gait... OMIM:617018
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction ORPHA:423296
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... ORPHA:171622
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait OMIM:605388
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Cerebellar atrophy, Myoclonus OMIM:616187
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Spastic Paraplegia 32, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Cerebral at... OMIM:611252
Spinocerebellar Ataxia 45
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Cerebellar atrophy OMIM:616410
Lissencephaly, X-Linked, 1
Pachygyria, Ataxia, Postnatal growth retardation, Agyria, Spasticity, Gray matter heterotopia, Li... OMIM:300067
Megalencephalic Leukoencephalopathy With Subcortical Cysts 1
Megalencephaly, Diffuse swelling of cerebral white matter, Ataxia, Spasticity, Diffuse spongiform... OMIM:604004
Spermatogenic Failure 3
Infertility OMIM:606766
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity, Cer... OMIM:616981
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Spastic tetraplegia, Ataxia, Pachygyria, Inability to walk, Cerebellar hypoplasia, Secondary micr... OMIM:618174
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Tremor, Ataxia, Spasticity, Hypoplasia of the corpus callosum OMIM:616494
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Megalencephaly With Dysmyelination
Megalencephaly, Ataxia, Spasticity, Abnormal cerebral white matter morphology, Cerebral dysmyelin... OMIM:249240
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... ORPHA:94122
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Ataxia, Cerebellar vermis hypoplasia OMIM:618876
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Spastic tetraplegia, Pachygyria, Agyria, Gray matter heterotopia, C... OMIM:615412
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... OMIM:616948
Intellectual Developmental Disorder, Autosomal Recessive 53
Ataxia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebral atrophy OMIM:616917
Spinocerebellar Ataxia 11
Progressive cerebellar ataxia, Cerebellar atrophy OMIM:604432
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Parkinsonism With Spasticity, X-Linked
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors OMIM:608631
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Cerebellar atrophy, Leukoencephalopathy, Progressive leukoencephalopathy, Tremor, Ataxi... OMIM:615889
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Impaired vibration sensation in the lower l... OMIM:610245
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Leukoencephalopathy, Tr... OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Spinocerebellar Ataxia Type 37
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617133
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Autosomal Spastic Paraplegia Type 30
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... ORPHA:101010
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Spinocerebellar Ataxia 38
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:615957
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Ceroid Lipofuscinosis, Neuronal, 8
Ataxia, Cerebellar atrophy, Myoclonus, Cerebral atrophy OMIM:600143
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Hypertonia, Postnatal growth retardation, Cerebral atrophy, Micr... OMIM:614023
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Gait disturbance, Leukoencephalopathy, Abnormal cerebral white matter morphology, ... OMIM:300660
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to wa... OMIM:618090
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Inability to walk, Cerebellar atrophy OMIM:619333
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... ORPHA:98762
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements OMIM:611092
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Autosomal Recessive Spastic Paraplegia Type 67
Babinski sign, Agenesis of corpus callosum, Spastic gait, Limb tremor, Lower limb spasticity, Apl... ORPHA:401820
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:117210
Spinocerebellar Ataxia, Autosomal Recessive 10
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... OMIM:613728
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Cerebellar hypoplasia, Spasticity, Ank... OMIM:615768
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly, Megalencephaly OMIM:614499
Spinocerebellar Ataxia 30
Ataxia, Cerebellar atrophy OMIM:613371
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Fasciculations, Sp... OMIM:611302
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... ORPHA:284332
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Lissencephaly 1
Subcortical band heterotopia, Spastic tetraparesis, Pachygyria, Agyria, Abnormal cerebral white m... OMIM:607432
Spinocerebellar Ataxia Type 35
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... ORPHA:276193
Dystonia 23
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... OMIM:614860
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait OMIM:616127
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Cerebellar hypoplasia with endosteal sclerosis
Microcephaly, Ataxia, Cerebellar hypoplasia OMIM:213002
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Lissencephaly 3
Lissencephaly, Spastic tetraplegia, Pachygyria, Ataxia, Polymicrogyria, Agyria, Gray matter heter... OMIM:611603
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Microlissencephaly
Periventricular heterotopia, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Liss... ORPHA:1083
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spinocerebellar Ataxia 35
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... OMIM:613908
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Failure to thrive, Periventricular nodular heterotopia, Progressive ... OMIM:608097
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A
Cerebellar atrophy, Diffuse white matter abnormalities, Megalencephaly, Diffuse swelling of cereb... OMIM:613925
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Hand tremor, Somatic sensory dysfunction OMIM:300905
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy, Short stature, Periventricular nodular heterotopia, Inability to walk, Spastic par... OMIM:618572
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Dystonia 31
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... OMIM:619565
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypo... ORPHA:401830
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Polymicrogyria, Cerebellar hypoplasia, Cortical dysplasia, Microcephaly OMIM:615771
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor OMIM:302500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Stereotypy, Tremor, Ataxia, Progressive microcephaly, Hypoplasia of the corpu... OMIM:617862
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... OMIM:617013
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Abnormal cerebellu... OMIM:162350
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Steppage gait, Leukoencephalopathy, Tremor, Ataxia, Distal sensory... OMIM:618387
Spastic Paraplegia 80, Autosomal Dominant
Babinski sign, Gait disturbance, Ataxia, Spastic paraplegia, Abnormal cerebellum morphology OMIM:618418
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign, Atrophy of the dentate nucleus OMIM:125370
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Leukoencephalopathy, Tremor, Ataxia, Spasticity OMIM:611105
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... ORPHA:314978
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... OMIM:616053
Dystonia With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia OMIM:611694
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Hydroc... OMIM:604213
Episodic Ataxia, Type 8
Slurred speech, Ataxia, Episodic ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 40
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... ORPHA:423275
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... ORPHA:521406
Lissencephaly 4
Growth delay, Short stature, Simplified gyral pattern, Hypertonia, Lissencephaly, Agenesis of cor... OMIM:614019
Dandy-Walker Syndrome
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Po... OMIM:220200
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Stereotypy, Ataxia, Atten... OMIM:618709
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spinocerebellar Ataxia, Autosomal Recessive 12
Babinski sign, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Microcephaly OMIM:614322
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... OMIM:300423
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Spinocerebellar Ataxia 19
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 6
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia OMIM:608029
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... OMIM:210000
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Cerebellar vermis atrophy, Limb ataxia, Difficulty walking, Truncal ataxia ORPHA:363432
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Babinski sign, Cerebellar atrophy, Gait ataxia, Cerebral atrophy OMIM:616192
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Microcephaly, Seizures, And Developmental Delay
Cerebellar atrophy, Simplified gyral pattern, Hyperactivity, Progressive microcephaly, Ataxia, Hy... OMIM:613402
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... ORPHA:329228
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Upper limb spasticity, Lower limb spasticity, Periventricular white matter hy... OMIM:618468
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... ORPHA:98763
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... OMIM:270500
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Progressive Myoclonic Epilepsy Type 1
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyskinesia, Hyp... ORPHA:98810
Spinocerebellar Ataxia 46
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia OMIM:617770
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Cerebral atrophy, Hyp... OMIM:617916
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Feeding difficulties, Pachygyria, Agyria, Spasticity, Gray matter heterotopia ORPHA:1084
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Failure to thrive, Ataxia, Hypertonia, Spasticity, Cerebral ca... ORPHA:1314
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Cerebral atrophy, Unsteady gait, Titubation OMIM:619405
Spinocerebellar Ataxia Type 2
Postural tremor, Abnormal cortical gyration, Kinetic tremor, Chorea, Cerebral white matter atroph... ORPHA:98756
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Spasticity, Gray matter heterotopia, Agenesis of co... OMIM:600348
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebellar atrophy, Cerebral white matter hypoplasia, Lissencephaly, Spastic tetraplegia, Pachygy... OMIM:618730
Gordon Holmes Syndrome
Ataxia, Cerebellar atrophy, Cerebral atrophy OMIM:212840
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Truncal ataxia, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcep... OMIM:611726
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:85292
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Aplasia/Hypo... ORPHA:79262
Microcephaly 19, Primary, Autosomal Recessive
Failure to thrive in infancy, Simplified gyral pattern, Spasticity, Decreased body weight, Hypopl... OMIM:617800
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Lower limb spasticity, Iron accumulation in globus pallidus, Ataxia, Corpus c... OMIM:619389
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetri... ORPHA:157941
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Cerebellar atrophy, Dysplastic corpus callosum, Ataxia, Inability to walk, Tetraparesis... OMIM:618276
Developmental And Epileptic Encephalopathy 62
Dysphagia, Failure to thrive, Gastrostomy tube feeding in infancy, Spastic tetraplegia, Inability... OMIM:617938
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Spasticity, Attention deficit hyperactivity disorder, Microc... OMIM:618185
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia OMIM:615705
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Abnormal ce... OMIM:607317
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Normal pressure hydrocephalus OMIM:611808
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Neurodegeneration With Brain Iron Accumulation
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... ORPHA:385
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady gait, Limb... OMIM:213200
Periventricular Nodular Heterotopia 7
Optic atrophy, Periventricular nodular heterotopia, Gray matter heterotopia, Hypoplasia of the co... OMIM:617201
Autosomal Spastic Paraplegia Type 58
Torticollis, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal pyramidal sign, Titubatio... ORPHA:397946
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Autosomal Spastic Paraplegia Type 72
Postural tremor, Impaired vibration sensation at ankles, Spastic gait, Rigidity ORPHA:401849
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Myoclonus, Familial, 1
Ataxia, Myoclonus, Frequent falls OMIM:614937
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Short stature, Obesity, Tremor, Ataxia, Incoordination, Abnormal cerebral white ma... OMIM:614947
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia OMIM:617584
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Spastic tetraplegia, Periventricular ribbonlike heterotopia, Thick cerebral cortex... OMIM:618677
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... ORPHA:453521
Spastic Paraplegia 30, Autosomal Dominant
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... OMIM:610357
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Myoclonus, Abnormality of extrapyramidal motor function, Leukoencephalopathy, Ataxia, Cerebral at... OMIM:204300
Developmental And Epileptic Encephalopathy 40
Myoclonus, Cerebral cortical atrophy, Spasticity, Choreoathetosis OMIM:617065
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Polymicrogyria, Spasticity, Cerebral ... OMIM:618973
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... OMIM:617145
Pontocerebellar Hypoplasia, Type 2D
Clonus, Cerebellar atrophy, Chorea, Spastic tetraplegia, Progressive microcephaly, Cerebral atrop... OMIM:613811
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gl... OMIM:600116
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... OMIM:617225
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Dystonia, Dysmetria, Leukoencephalopathy, Spastic dysarthria, Spastic ataxia, Progressive cerebel... ORPHA:314603
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... OMIM:616719
Huntington Disease-Like 2
Involuntary movements, Gait disturbance, Abnormal corpus striatum morphology, Dystonia, Caudate a... ORPHA:98934
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... OMIM:609270
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Hemiparesis, Pachygyria, Hypoplasia of the corpus callo... OMIM:610031
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Hypertonia, Myoclonus, Progressive extrapyramidal movement disorder OMIM:612736
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... OMIM:610185
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Chorea, Paroxysmal dyskinesia OMIM:611031
Pontocerebellar Hypoplasia, Type 1A
Neuronal loss in basal ganglia, Hypoplasia of the pons, Fasciculations, Basal ganglia gliosis, At... OMIM:607596
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... ORPHA:284324
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Lissencephaly 9 With Complex Brainstem Malformation
Involuntary movements, Dysphagia, Short stature, Lissencephaly, Pachygyria, Spasticity, Hypoplasi... OMIM:618325
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations OMIM:182980
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations, Cerebral atr... OMIM:618170
Pontocerebellar Hypoplasia, Type 1E
Hypoplasia of the pons, Cerebellar atrophy, Myoclonus, Cerebellar hypoplasia OMIM:619303
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Choreoathetosis OMIM:301020
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... OMIM:619028
Spinocerebellar Ataxia Type 26
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... ORPHA:101112
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Spastic Ataxia 3, Autosomal Recessive
Dystonia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy, Spastic ataxia, Spasticity, Gait at... OMIM:611390
Intellectual Developmental Disorder, Autosomal Recessive 69
Ataxia, Cerebellar hypoplasia, Microcephaly OMIM:618383
Spinocerebellar Ataxia 15
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Combined Saposin Deficiency
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements, Abnormal periventricular white ... OMIM:611721
Polymicrogyria Due To Tubb2B Mutation
Oromotor apraxia, Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Ab... ORPHA:300573
Spinocerebellar Ataxia 28
Babinski sign, Dystonia, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... OMIM:610246
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Cerebellar Atrophy, Developmental Delay, And Seizures
Cerebellar atrophy OMIM:617643
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Shuffling gait, Bradykinesia, Subcortical cerebral atrophy, Falls, Resting tremor, Shor... ORPHA:306692
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... ORPHA:512260
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Cerebellar atrophy, Dysmetria, Simplified gyral pattern, Intention tremor, Pachygyria, Dysdiadoch... OMIM:224050
Nescav Syndrome
Babinski sign, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Spasticity, Cere... OMIM:614255
Spastic Paraplegia, Ataxia, And Mental Retardation
Babinski sign, Dystonia, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... OMIM:607565
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Atax... OMIM:614831
Ceroid Lipofuscinosis, Neuronal, 11
Ataxia, Cerebellar atrophy OMIM:614706
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Intrauterine growth retardation, Microcephaly, Cerebral calcif... ORPHA:1980
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spinocerebellar Ataxia 4
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... OMIM:600223
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Myoclonus, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, S... OMIM:225753
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Abnormal pyramidal sign OMIM:301840
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... OMIM:617633
Spastic Ataxia-Corneal Dystrophy Syndrome
Gait disturbance, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Ataxia, Hemiplegia/hemipa... ORPHA:2572
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Juvenile Huntington Disease
Dystonia, Neuronal loss in basal ganglia, Cerebellar atrophy, Rigidity, Chorea, Myoclonus, Bradyk... ORPHA:248111
Ataxia-Oculomotor Apraxia 4
Dystonia, Cerebellar atrophy, Tetraplegia, Oculomotor apraxia, Ataxia OMIM:616267
Spastic Tetraplegia And Axial Hypotonia, Progressive
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Fascicula... OMIM:618598
X-Linked Progressive Cerebellar Ataxia
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... ORPHA:1175
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia ORPHA:284271
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:615386
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Frequent falls, Torticollis, Spasticity, Cerebral atrophy, Gait ataxia OMIM:618369
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Short stature, Hypogonadism, Ataxia, Postnatal growth retardation OMIM:616113
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Myoclonus, Hyperkinetic movements, Cerebral atrophy, Secondary microcephaly OMIM:618497
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Cerebral atrophy, Spasticity, A... OMIM:615924
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Short stature, Simplified gyral pattern, Attention deficit hyperactivity d... OMIM:608716
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Ataxia-Oculomotor Apraxia 3
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia OMIM:615217
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... OMIM:605361
Spinocerebellar Ataxia 34
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... OMIM:133190
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis, Iron a... ORPHA:496756
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Failure to thrive, Abnormal cerebral white matter morphology OMIM:618951
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:609306
Autosomal Recessive Spastic Paraplegia Type 74
Babinski sign, Cerebellar atrophy, Cerebral white matter atrophy, Difficulty walking, Hypoplasia ... ORPHA:468661
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis,... ORPHA:352596
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Abnormal caudate nucleus mo... ORPHA:314632
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Polymicrogyria, Spasticity, Hypoplasia of the corpus callosum, Cortical dysplasia,... OMIM:614039
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Focal T2 hypointe... ORPHA:139485
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... OMIM:616204
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... OMIM:300894
Spinocerebellar Ataxia Type 27
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... ORPHA:98764
Aicardi-Goutieres Syndrome 6
Dystonia, Rigidity, Tremor, Loss of ability to walk, Cerebral calcification, Microcephaly OMIM:615010
Spinocerebellar Ataxia Type 17
Involuntary movements, Parkinsonism, Gait disturbance, Cerebellar atrophy, Dystonia, Rigidity, Wr... ORPHA:98759
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Neuroectodermal Melanolysosomal Disease
Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Spasticity, Cerebellar hypopl... ORPHA:33445
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Steppage gait, Distal sensory impairment, Ataxia, Cerebral atrophy OMIM:607250
Lopes-Maciel-Rodan Syndrome
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Sp... OMIM:617435
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Oculomo... ORPHA:1170
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia OMIM:617915
Epilepsy, Familial Adult Myoclonic, 7
Myoclonic tremor OMIM:618075
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Oculomotor apraxia, A... ORPHA:208513
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Spastic tetraparesis, Cerebellar atrophy, Microcephaly OMIM:618741
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia OMIM:610743
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... ORPHA:251282
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia, Upper motor neuron dysf... ORPHA:95434
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Clumsiness, Cerebellar atrophy, Cerebral atrophy OMIM:610003
Spinocerebellar Ataxia 48
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gai... OMIM:618093
Leukodystrophy, Hypomyelinating, 14
Dystonia, Cerebellar atrophy, Spasticity, Cerebral atrophy, Microcephaly OMIM:617899
Spinocerebellar Ataxia 5
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... OMIM:600224
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... ORPHA:352403
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Simplified gyral pattern, Stereotypy, Tremor, Periventricular white matter hyperin... OMIM:619470
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Chorea, Myoclonus, Hyperkinetic movements, Polymicrogyria, Spasticity, Cerebral atrophy, Hypoplas... OMIM:614254
Creutzfeldt-Jakob Disease
Myoclonus, Extrapyramidal muscular rigidity, Hemiparesis, Gait ataxia, Abnormal cerebellum morpho... OMIM:123400
Spinocerebellar Ataxia Type 23
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... ORPHA:101108
Spinocerebellar Ataxia 7
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... OMIM:164500
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... OMIM:618317
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Mitochondrial Complex I Deficiency, Nuclear Type 21
Babinski sign, Leukoencephalopathy, Ataxia, Spasticity, Difficulty walking, Abnormal cerebellum m... OMIM:618242
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc... OMIM:615157
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Spinocerebellar Ataxia 44
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia OMIM:617691
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Tremor, Ataxia, Spasticity, Microcephaly OMIM:278780
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Babinski sign, Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Lower limb spasticity, Pa... ORPHA:98
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Intrauterine growth retardation, Short stature, Hypertonia, Mi... ORPHA:2216
Kerion Celsi
Lymphadenopathy ORPHA:499
Brain Small Vessel Disease 2
Growth delay, Schizencephaly, Spastic tetraplegia, Porencephalic cyst, Polymicrogyria, Subcortica... OMIM:614483
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Babinski sign, Thalamic calcification, Rigidity, Bradykinesia, Hypertonia, Generalized dystonia, ... OMIM:618824
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Progressive spastic paraplegia, Lower limb spasticity ORPHA:401835
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Short stature, Absent septum pellucidum, Simplified gyral pattern, Inability to walk, Spasticity,... OMIM:618492
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... OMIM:606183
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... ORPHA:71517
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism OMIM:614307
Developmental And Epileptic Encephalopathy 69
Myoclonus, Spastic tetraplegia, Corpus callosum atrophy, Hyperkinetic movements, Cerebral cortica... OMIM:618285
Hsd10 Disease
Optic atrophy, Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Focal whit... ORPHA:391417
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Partial agenesis of the corpus callosum, Postnatal growth retardation, Intrauterine growth retard... OMIM:233810
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Lissencephaly 5
Optic atrophy, Subcortical band heterotopia, Spastic paraplegia, Leukoencephalopathy, Hypoplasia ... OMIM:615191
Facial Onset Sensory And Motor Neuronopathy
Fasciculations ORPHA:85162
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Spinocerebellar Ataxia Type 21
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Cerebellar vermis atrophy, Progre... ORPHA:98773
Leukodystrophy, Hypomyelinating, 6
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity, Microcephaly OMIM:612438
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Spastic Paraplegia 79, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Fasciculations, Intention tremor, ... OMIM:615491
Asherman Syndrome
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... ORPHA:137686
3-Hydroxyisobutyric Aciduria
Failure to thrive, Abnormality of neuronal migration, Congenital intracerebral calcification, Mic... OMIM:236795
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism OMIM:615528
Spinal Muscular Atrophy, Jokela Type
Tremor, Distal sensory impairment, Fasciculations OMIM:615048
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Striatal Degeneration, Autosomal Dominant 1
Gait disturbance, Rigidity, Degeneration of the striatum, Bradykinesia, Dysdiadochokinesis, Symme... OMIM:609161
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Microcephaly 16, Primary, Autosomal Recessive
Short stature, Simplified gyral pattern, Spastic tetraplegia, Decreased body weight, Agenesis of ... OMIM:616681
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Dystonia, Cerebellar atrophy, Head titubation, Truncal ataxia, Spasticity, Abnormal pyramidal sig... OMIM:617560
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... ORPHA:93952
Hyperphenylalaninemia, Bh4-Deficient, C
Choreoathetosis, Myoclonus, Tremor, Hypertonia, Cerebral calcification, Microcephaly OMIM:261630
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Babinski sign, Cerebellar atrophy, Waddling gait, Spasticity, Cerebral atrophy, Microcephaly OMIM:619090
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Growth delay, Short stature, Pachygyria, Gray matter heterotopia... ORPHA:2512
Gabriele-De Vries Syndrome
Dystonia, Intrauterine growth retardation, Tremor, Waddling gait, Abnormal cerebral white matter ... OMIM:617557
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Dysmetria, Chorea, Cerebellar vermis atrophy, Ataxia, Inability to walk, Gait ataxia OMIM:618501
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity OMIM:183050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Spinocerebellar Ataxia 17
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romb... OMIM:607136
Spastic Paraplegia 48, Autosomal Recessive
Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Broad-based gait, Spastic paraplegia, Par... OMIM:613647
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Myoclonus, Ataxia, Hypertonia, Spasticity, Cerebral atrophy, Microcephaly OMIM:618426
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tr... ORPHA:363654
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... OMIM:600363
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Iron accumulation in substantia nig... ORPHA:329284
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Ataxia, Corpus callosum atrophy, Spasti... OMIM:618088
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Hand tremor, Para... OMIM:302800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Geniospasm 1
Chin myoclonus OMIM:190100
Hypocalcemia, Autosomal Dominant 2
Basal ganglia calcification, Postnatal growth retardation, Paresthesia OMIM:615361
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Ataxia, Hyperactivity, Spasticity, Hypoplasia of the corpus callosum, Cere... OMIM:300983
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Dystonia, Bradykinesia, Hemiparesis, Tremor, Dilation of lateral ventricles, Cerebr... ORPHA:306669
Spinocerebellar Ataxia 27
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... OMIM:609307
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Cerebellar atrophy, Spastic tetraplegia, Ataxia, Spasticity, Hypoplasia of the corpus callosum OMIM:617207
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Caribbean Parkinsonism
Dystonia, Midline brain calcifications, T2 hypointense basal ganglia, Weakness due to upper motor... ORPHA:97355
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Impaired vibration sensation at ankles, Babinski sign, Infertility, Up... ORPHA:320391
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor,... ORPHA:79263
Chorea, Benign Familial
Chorea OMIM:215450
Deafness, Congenital, And Familial Myoclonic Epilepsy
Myoclonus OMIM:220300
Familial Infantile Bilateral Striatal Necrosis
Atrophy/Degeneration involving the caudate nucleus, Gait disturbance, Choreoathetosis, Basal gang... ORPHA:225154
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Opisthotonus, Frequent falls, Inability to walk, Generalized dystonia, Spastici... ORPHA:216866
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Dysgyria, Abnormal cerebral white matter morphology, Gray matter heterotopia, Type... ORPHA:352682
Progressive Myoclonic Epilepsy Type 3
Cerebellar atrophy, Limb myoclonus, Progressive truncal ataxia, Myoclonus, Progressive cerebellar... ORPHA:263516
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... ORPHA:137898
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Cerebellar hypoplasia, Apraxia, Spastic... OMIM:617810
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Growth delay, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spast... OMIM:612716
Hemimegalencephaly
Optic atrophy, Hemimegalencephaly, Abnormal neuron morphology, Myoclonus, Hemiparesis, Pachygyria... ORPHA:99802
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Hypoplasia of the pons, Myoclonus, Cerebral cortical atrophy, Spasticity, Agenesis of corpus call... OMIM:617669
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... OMIM:618160
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Olivopontocerebellar hypoplasia, Primary microcephaly ORPHA:166063
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Bradykinesia, Gait ataxia OMIM:143100
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Dysmetria, Head tremor, Titubation, Gait ataxia, Somatic sensory dysfunction ORPHA:98771
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... ORPHA:454887
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity, Hy... OMIM:616140
Joubert Syndrome 24
Gait disturbance, Dysmetria, Ataxia, Pachygyria, Polymicrogyria, Cerebellar hypoplasia, Spasticity OMIM:616654
Parkinson Disease 21