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 |
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Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity, Hy... |
OMIM:616140 |
Joubert Syndrome 24 |
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Gait disturbance, Dysmetria, Ataxia, Pachygyria, Polymicrogyria, Cerebellar hypoplasia, Spasticity |
OMIM:616654 |
Parkinson Disease 21 |
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