Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
ATP/GTP binding protein 1
Synonyms:
1700020N17Rik,  atms,  2310001G17Rik,  Nna1,  5730402G09Rik,  4930445M19Rik,  Ccp1,  2900054O13Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Agtpbp1 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 Agtpbp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, D... OMIM:618276
Pontocerebellar Hypoplasia Type 1
Ataxia, Hypoplasia of the pons, Optic atrophy, Degeneration of anterior horn cells, Tongue fascic... ORPHA:2254

The table below shows human diseases predicted to be associated to Agtpbp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spastic Paraplegia 34, X-Linked
Impaired vibratory sensation, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Spastic gait OMIM:300750
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Spastic Paraplegia With Associated Extrapyramidal Signs
Spastic paraplegia, Abnormality of extrapyramidal motor function OMIM:182800
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait OMIM:607584
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spasticity, Spastic paraplegia, Scissor gait OMIM:615685
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... OMIM:614322
Spinocerebellar Ataxia 41
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy OMIM:616410
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... OMIM:615268
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia, Hepatosplenomegaly OMIM:242520
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Hypogonadotropic hypogonadism, Ataxia ORPHA:1180
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:615625
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Spinocerebellar Ataxia 32
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy OMIM:613909
Spinocerebellar Ataxia Type 30
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia ORPHA:211017
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Hypertonia, Ataxia ORPHA:2672
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spinocerebellar Ataxia Type 32
Male infertility, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spinocerebellar Ataxia 45
Cerebellar atrophy, Limb ataxia, Gait ataxia OMIM:617769
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome
Spasticity, Paraplegia ORPHA:2818
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Cerebral Palsy, Ataxic, Autosomal Recessive
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis OMIM:605388
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction ORPHA:306617
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity ORPHA:101004
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Spastic Paraplegia 27, Autosomal Recessive
Lower limb spasticity, Babinski sign, Spastic paraplegia, Impaired vibration sensation at ankles OMIM:609041
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Cerebellar Ataxia, Cayman Type
Broad-based gait, Abnormal retinal morphology, Gait ataxia, Cerebellar hypoplasia, Nonprogressive... ORPHA:94122
Spinocerebellar Ataxia, Autosomal Recessive 25
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia OMIM:617584
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance ORPHA:2274
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... OMIM:616515
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cerebellar agenesis ORPHA:1397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Cerebellar dysplasia OMIM:615041
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spastic Paraparesis-Deafness Syndrome
Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis ORPHA:2815
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Babinski sign, Poor fine motor coordination, Difficulty walking, Sp... ORPHA:320370
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Spinocerebellar Ataxia, Autosomal Recessive 24
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Developmental And Epileptic Encephalopathy 60
Inability to walk, EEG with burst suppression, Spastic tetraplegia, Hypsarrhythmia, Hippocampal m... OMIM:617929
Kennedy Disease
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... ORPHA:481
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Ataxia, Spastic tetraparesis OMIM:619061
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Cerebellar atrophy, Inability to walk, Ataxia OMIM:619333
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor OMIM:601238
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... OMIM:613672
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles ORPHA:101007
Ceroid Lipofuscinosis, Neuronal, 3
Parkinsonism, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluores... OMIM:204200
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Ataxia-Tapetoretinal Degeneration Syndrome
Ataxia, Pigmentary retinopathy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Rod-cone ... ORPHA:1178
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Calf muscle hypertrophy, Fasciculations, Limb muscle weakness, Testi... OMIM:313200
Ceroid Lipofuscinosis, Neuronal, 11
Cerebellar atrophy, Optic atrophy, Retinal dystrophy, Ataxia OMIM:614706
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... OMIM:164500
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration, Distal sensory impairment OMIM:619764
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Truncal ataxia, Limb ataxia, Difficulty walking, Brain atrophy, Cerebellar vermis atrophy ORPHA:363432
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Parkinsonism, Cerebellar calcifications, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hype... OMIM:618824
Autosomal Recessive Spastic Paraplegia Type 46
Cerebellar atrophy, Decreased testicular size, Lower limb spasticity, Broad-based gait, Ataxia, C... ORPHA:320391
Olivopontocerebellar Atrophy-Deafness Syndrome
Ataxia, Optic atrophy, Hypertonia, Chorioretinal coloboma, Olivopontocerebellar atrophy, Cerebral... ORPHA:2732
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Spermatogenic Failure 17
Male infertility OMIM:617214
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spinocerebellar Ataxia 11
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... OMIM:604432
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... OMIM:616948
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... OMIM:610951
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, EEG... OMIM:600143
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Hypergonado... OMIM:613724
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... OMIM:619742
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spinocerebellar Ataxia 35
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... OMIM:613908
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, T2 hypointense thalamus, Optic atrophy, Trun... ORPHA:135
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Impaired distal proprioception ORPHA:231445
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... ORPHA:284332
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... ORPHA:254343
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... OMIM:618876
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Ataxia, Corpus callosum atrophy, Re... OMIM:619389
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Rod-cone dystrophy, Ataxia OMIM:158500
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular ... OMIM:256730
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia, Retinal degeneration OMIM:257970
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Hand tremor, G... OMIM:157640
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Parkinsonism, Cerebellar calcifications, Chorea, Hand tremor, Athetosis, Thalami... OMIM:615483
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Paraparesis, Steppage gait, Distal sensory impairment OMIM:302802
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia, Ataxia ORPHA:2246
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Retinal atrophy, Retinal thinning, Retinal dystrophy, Cerebellar vermis... OMIM:615960
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Aplasia/Hypoplas... ORPHA:2572
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... OMIM:613647
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Mast Syndrome
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Gai... OMIM:248900
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Camos Syndrome
Ataxia, Optic atrophy, Spasticity, Brain atrophy, Aplasia/Hypoplasia of the cerebellum, Progressi... ORPHA:83472
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Thenar muscle atrophy, Degeneration of th... OMIM:604360
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar dysplasia, Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Ataxia, Elong... ORPHA:370022
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Truncal ataxia OMIM:611726
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Optic atrophy, Difficulty walking, C... OMIM:619425
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Ataxia, T2 hypointense thalamus, Inability to walk, Unstea... ORPHA:1947
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Nescav Syndrome
Cerebellar atrophy, Appendicular spasticity, Ataxia, Inability to walk, Babinski sign, Optic atro... OMIM:614255
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Abnormal thalamic MRI signal intensity, Spas... ORPHA:363717
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Tubulinopathy-Associated Dysgyria
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Oculomotor apraxia, Pachygyria, Abn... ORPHA:467166
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia ORPHA:101005
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski sign, Gait apraxia, Dysmetr... OMIM:615157
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Spasticity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... OMIM:302800
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Spinocerebellar Ataxia, Autosomal Recessive 6
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor OMIM:608029
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Nephronophthisis 14
Cerebellar vermis hypoplasia, Retinal degeneration OMIM:614844
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... OMIM:605259
Gordon Holmes Syndrome
Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Chorea, Cerebral atrophy, Primary amen... OMIM:212840
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism... OMIM:615768
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... OMIM:609161
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Nephronophthisis 15
Cerebellar vermis hypoplasia, Retinal degeneration OMIM:614845
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Hippocampal sclerosis, Myoclonus, Interictal epileptiform activity OMIM:615400
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... OMIM:616291
Spinocerebellar Ataxia 4
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... OMIM:600223
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... OMIM:616204
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Macular degeneration, P... ORPHA:284289
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myoclonus OMIM:616187
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Ravine Syndrome
Spasticity, Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brain... ORPHA:99852
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Simplified gyral pattern, Decreased thalamic volume, Cerebral cortical atrophy, Cerebellar hypopl... OMIM:619072
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Cryptorchidism, Pigmentary retinopathy, Hypogonadism, Retinal degeneration ORPHA:3363
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinocerebellar Ataxia Type 35
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... ORPHA:276193
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... OMIM:254110
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Clonus, Decreased thalamic volume, Hypertonia, Spasticity OMIM:613668
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy... ORPHA:85179
Diaminopentanuria
Neurodegeneration, Spasticity, Ataxia OMIM:222350
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus OMIM:125370
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi... OMIM:610127
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Ataxia, Clonus, Abnormal cerebellum morphology, Babinski sign, Spastic par... OMIM:270700
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Drusen, Decreased nerve conduction velocity, Distal sensory impairm... OMIM:608895
Spinocerebellar Ataxia, Autosomal Recessive 14
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... OMIM:615386
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... ORPHA:275872
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Lymphadenopathy, Increased proportion of memory T cells, Hepatos... OMIM:618982
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... ORPHA:276435
Spastic Paraplegia 30, Autosomal Dominant
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Spasti... OMIM:610357
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Babinski sign, Ankle clonus, Progressi... ORPHA:506353
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, EEG with photoparoxysmal respon... OMIM:616230
Spinocerebellar Ataxia, Autosomal Recessive 15
Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia OMIM:615705
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Spastic tetraplegia, Inability to walk, Decreased thalamic volume OMIM:618646
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Ataxia, Hypogonadotropic hypogona... OMIM:215470
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber... OMIM:616924
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly OMIM:269840
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... OMIM:308750
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Abnormal optic... ORPHA:33445
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... OMIM:607483
Spinocerebellar Ataxia 44
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Mucolipidosis Iv
Cerebellar atrophy, Babinski sign, Optic atrophy, Spastic tetraplegia, Retinal degeneration OMIM:252650
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Ce... OMIM:618193
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Hypogonadism, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus OMIM:619303
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S... ORPHA:266
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Pigmentar... OMIM:222300
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... OMIM:613954
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spinocerebellar Ataxia 46
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign OMIM:617770
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Intention tremor, ... ORPHA:98
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Spastic paraparesis, Palatal tremor, Truncal ataxia OMIM:113610
Immunodeficiency 102
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... OMIM:301082
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Retinal atrophy, Gait ... ORPHA:412057
Spinocerebellar Ataxia 26
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:609306
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Unsteady gait, Dysmet... OMIM:616127
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... OMIM:616005
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Unsteady gait, Hemiparesis, Fusion of the left and right thalami, Agenesi... OMIM:617542
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Optic atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myoclonus OMIM:619057
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615993
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un... OMIM:608099
Spinocerebellar Ataxia, Autosomal Recessive 11
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy OMIM:614229
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia OMIM:601042
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, Ret... OMIM:551500
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Episodic ataxia, Parox... ORPHA:53583
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... OMIM:617760
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Corpus callosum atrophy, Cryptorchidis... OMIM:619310
Spinocerebellar Ataxia Type 26
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... ORPHA:101112
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Babinski sign, Hand tremor, Lateral ... OMIM:615889
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Unsteady gait, Retinal degeneration OMIM:520000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Poor motor coordination, Parkinsonism, Cerebral atrophy, C... ORPHA:79264
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Retinal detachment, Optic nerve h... ORPHA:370959
Spinocerebellar Ataxia 29
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Impaired tandem ... OMIM:117360
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m... OMIM:602271
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Impaired te... OMIM:619686
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Insuli... ORPHA:401768
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... OMIM:617854
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Parkinsonism, Difficulty walking, Spastic paraparesis ORPHA:397725
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Optic atrophy, Abnorma... OMIM:236792
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Spinocerebellar Ataxia, Autosomal Recessive 26
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... OMIM:617633
Hsd10 Mitochondrial Disease