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Gene: Agtpbp1 MGI:2159437

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Spasticity, Cerebral cortical atrophy, Retin... OMIM:300438
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Clonus, Babinski sign, Dysmetria, Hypochromic microcytic anemia, Dysdiadoch... OMIM:301310
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... OMIM:619780
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Progressive spastic paraparesis, Babinski sign, Impaired vibration sensati... ORPHA:444099
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... ORPHA:284324
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Congenital diaphragmatic hernia, Testicular atrophy OMIM:601163
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Spastic Paraplegia 10, Autosomal Dominant
Lower limb spasticity, Ataxia, Parkinsonism, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:604187
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... OMIM:618986
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Spinocerebellar Ataxia 49
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... OMIM:619806
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Hypogonadism, Retinal degeneration OMIM:615981
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... ORPHA:1878
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... OMIM:614877
Familial Congenital Mirror Movements
Cerebral palsy, Dysgenesis of the hippocampus, Clumsiness, Poor fine motor coordination, Agenesis... ORPHA:238722
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Myotonic Dystrophy 1
Cerebral atrophy, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Broad-based gait, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decr... OMIM:619705
47,Xyy Syndrome
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin... ORPHA:8
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Hypergonadotropic hypogonadism, Ataxia ORPHA:88637
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ... OMIM:618088
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal audito... OMIM:619260
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Inability to w... ORPHA:300570
Combined Oxidative Phosphorylation Defect Type 27
Diffuse cerebral atrophy, Hypoplastic hippocampus, Involuntary movements, Upper limb postural tre... ORPHA:477774
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Hypoplasia of the pons, Optic atrophy, Ce... OMIM:616171
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... OMIM:612020
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po... OMIM:616648
Abetalipoproteinemia
Ataxia, Retinopathy, Retinal degeneration OMIM:200100
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Interictal EEG abnormality, EEG with focal spike waves, Ataxia, Abnormal hipp... ORPHA:352582
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Hypoplastic opti... OMIM:210000
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Thickened superior cerebellar ped... OMIM:610688
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber... OMIM:617915
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... ORPHA:247234
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Neuroferritinopathy
Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, T2 hypointense thalamus, Ch... ORPHA:157846
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Babinski sign, Impaired ... OMIM:614409
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter, Cryptorch... OMIM:616816
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Imp... OMIM:300100
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Spastic Paraplegia 75, Autosomal Recessive
Babinski sign, Abnormal pyramidal sign, Impaired distal vibration sensation, Dysmetria, Spastic d... OMIM:616680
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, D... OMIM:618276
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm... OMIM:617145
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria OMIM:619191
Aceruloplasminemia
Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Ak... ORPHA:48818
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... ORPHA:485421
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Optic atr... OMIM:612319
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... OMIM:253601
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, O... ORPHA:280234
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... OMIM:300717
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ... ORPHA:206443
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... ORPHA:208513
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang... ORPHA:59315
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Vitamin B12-Unresponsive Methylmalonic Acidemia
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis ORPHA:27
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, A... ORPHA:98759
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babinski si... OMIM:159550
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Retinal degeneration, Opisthotonus OMIM:616896
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... ORPHA:397596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... OMIM:612937
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculomotor... OMIM:614487
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... OMIM:617810
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Developmental And Epileptic Encephalopathy 28
Rigidity, Optic atrophy, Cerebral atrophy, Spasticity, Retinal degeneration OMIM:616211
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Spinocerebellar Ataxia, Autosomal Recessive 8
Cerebellar atrophy, Optic atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyram... OMIM:610743
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Spastic tetraparesis, Cryptorchidism, Macular degeneration, Cerebra... ORPHA:404451
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:352403
Spinocerebellar Ataxia 15
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia ORPHA:210571
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... ORPHA:171442
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Parkinson Disease 17
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia OMIM:614203
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Imp... ORPHA:99013
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Hearing impairment, Chorea, Myoclonus, Head tremor, ... OMIM:620158
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Inability to walk, Prec... ORPHA:845
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Perrault Syndrome 1
Cerebellar atrophy, Ataxia, Increased circulating gonadotropin level, Spastic diplegia, Primary a... OMIM:233400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lipid droplets, In... OMIM:619065
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Spastic Paraplegia 7, Autosomal Recessive
Cerebellar atrophy, Waddling gait, Lower limb spasticity, Spastic ataxia, Degeneration of the lat... OMIM:607259
Alg6-Cdg
Rod-cone dystrophy, Ataxia, Cerebellar hypoplasia, Retinal degeneration ORPHA:79320
Spinocerebellar Ataxia Type 19/22
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... ORPHA:98772
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... ORPHA:70595
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I... OMIM:615491
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Impaired T cell function, Pure red cell aplasia, Autoimmune ... OMIM:613179
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Dysme... OMIM:600224
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... OMIM:618823
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Abnormal retinal morphology, Hand mus... ORPHA:254886
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Ataxia, Hemiparesis OMIM:141500
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Spa... OMIM:270200
X-Linked Charcot-Marie-Tooth Disease Type 3
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... ORPHA:101077
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dy... OMIM:612674
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Frequent falls,... ORPHA:353
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic paraparesis OMIM:615643
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:618944
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... ORPHA:171439
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... OMIM:618048
Posttransplant Acute Limbic Encephalitis
Ataxia, EEG with abnormally slow frequencies, Abnormal hippocampus morphology, EEG with focal epi... ORPHA:163921
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Ataxia, Cryptorchidism, Optic atrophy, Retinal degeneration OMIM:249270
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,... ORPHA:79244
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... ORPHA:391428
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter, Frequent falls, Muscle fiber... OMIM:300718
Myoclonic Epilepsy, Familial Infantile
Ataxia, Impaired tandem gait, Limb ataxia, Gait ataxia OMIM:605021
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Primary Lateral Sclerosis
Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Progressive spastic ... ORPHA:35689
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... OMIM:605637
Meckel Syndrome 13
Oculomotor apraxia, Retinopathy, Cerebellar hypoplasia, Ataxia OMIM:617562
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter, ... OMIM:617235
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia,... OMIM:238970
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Cerebellar hypoplasia OMIM:616781
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Diaphragmatic pa... OMIM:614399
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy,... ORPHA:86812
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... OMIM:183090
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Developmental And Epileptic Encephalopathy 6B
Hypoplastic hippocampus, Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, E... OMIM:619317
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, Lo... OMIM:270550
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... OMIM:609270
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Tremor, Inability to walk, Sensorineural he... ORPHA:52368
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... OMIM:133190
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Involuntary movements, Increased variability in muscle fiber diameter, T... ORPHA:238329
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... OMIM:619790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Hyperthyroidism, Tremor, Increased variability in... ORPHA:502423
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Abnormal pyramidal sign, Spastic diplegia, Macular degenerat... ORPHA:816
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Mirage Syndrome
Paraplegia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased muscle mass, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decrea... OMIM:229070
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Abnormal pyramidal sign, Optic atrophy, Abnormal thalamic MRI signal i... ORPHA:254930
Adenohypophysitis
Orthostatic hypotension, Decreased female libido, Reduced circulating prolactin concentration, De... ORPHA:95512
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Dravet Syndrome
Incoordination, Parkinsonism, Dysgenesis of the hippocampus, Rigidity, Multifocal epileptiform di... ORPHA:33069
Panhypophysitis
Orthostatic hypotension, Decreased female libido, Reduced circulating prolactin concentration, De... ORPHA:95513
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, Oculom... ORPHA:313772
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, D... OMIM:617675
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Ataxia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnorma... OMIM:617341
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Leukoencephalopathy With Ataxia
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... OMIM:615651
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly ORPHA:33574
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertil... ORPHA:465508
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis ORPHA:391417
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
New-Onset Refractory Status Epilepticus
Cerebellar edema, Abnormal thalamic MRI signal intensity, Global brain atrophy ORPHA:363558
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia OMIM:614306
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Irregular menstruation, Rod-cone dystrophy, Retinal dege... OMIM:615986
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Loss of ambulation, Spasticit... OMIM:611390
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion contracture, Increased variab... OMIM:618484
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy OMIM:619405
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Inability to walk, Cerebral atrophy, Gait di... ORPHA:168491
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Familial Acute Necrotizing Encephalopathy
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Spasticity, Abnormal thalamus morpho... ORPHA:88619
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus ORPHA:98763
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Japanese Encephalitis
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... ORPHA:79139
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Myoclonus, Dystonia OMIM:619651
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:615558
Band Heterotopia
Spasticity, Hypoplastic hippocampus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... OMIM:256600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Spinocerebellar Ataxia 6
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... OMIM:183086
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Cherry red spot of the macula, Gait apraxia, Optic atrophy, Dysme... OMIM:617302
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ... OMIM:617066
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells... ORPHA:276
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Developmental And Epileptic Encephalopathy 99
Cerebellar atrophy, Hypoplastic hippocampus, Multifocal epileptiform discharges, Eyelid myoclonus... OMIM:619606
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Poor coordinat... OMIM:615994
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati... ORPHA:169160
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... OMIM:606703
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Sandhoff Disease, Infantile Form
Exaggerated startle response, Abnormal thalamic MRI signal intensity, Myoclonus, Cherry red spot ... ORPHA:309155
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia, Tongue fasciculations OMIM:619851
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shuffling gai... ORPHA:289560
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Partial agenesis of the corpus callosum, Latera... OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebel... OMIM:615181
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Congenital Myopathy 15
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... OMIM:620161
Acute Disseminated Encephalomyelitis
Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal cerebellum morphology, Diaph... ORPHA:83597
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... OMIM:616881
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Babinski sign, ... ORPHA:94147
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... OMIM:604391
Refsum Disease, Classic
Somatic sensory dysfunction, Rod-cone dystrophy, Ataxia, Retinal degeneration OMIM:266500
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Leigh Syndrome
Cerebellar atrophy, Ataxia, Involuntary movements, Chorea, Optic atrophy, Abnormal thalamic MRI s... ORPHA:506
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... OMIM:234200
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Increased circul... ORPHA:168563
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus... ORPHA:486815
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion... ORPHA:75840
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypospadias, P... ORPHA:2959
Lesch-Nyhan Syndrome
Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Spasticity, Testicul... OMIM:300322
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Hypoplasia of the pons, Unste... ORPHA:98760
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Ol... ORPHA:91351
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve... ORPHA:52430
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Spastic tetraplegi... OMIM:619306
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl... ORPHA:171680
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Decreased nerve conduction velocity, Vocal cord par... ORPHA:397744
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Alexander Disease Type Ii
Ataxia, Rigidity, Babinski sign, Spasticity, Spastic paraparesis, Palatal tremor ORPHA:363722
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Cerebral atrophy, Spasticity, Retinal degeneration OMIM:272200
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia ORPHA:324588
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Upper limb spa... OMIM:275900
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Scheie Syndrome
Retinal degeneration OMIM:607016
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Parkinsonism, Inability to walk, Paraparesis, Atrophy of the spi... ORPHA:2822
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Abnormal thalamus morphology ORPHA:404440
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Autoimmune ... ORPHA:760
Meningioma
Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Focal T2 hypoint... ORPHA:2495
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... ORPHA:98768
Pontocerebellar Hypoplasia Type 1
Ataxia, Hypoplasia of the pons, Optic atrophy, Degeneration of anterior horn cells, Tongue fascic... ORPHA:2254
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Bull's eye maculopathy, Parkinsonism, Rigidity, Optic atrophy, Slurred spe... ORPHA:157850
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Leukodystrophy, Hypomyelinating, 2
Ataxia, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spasticity, Spasti... OMIM:608804
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... ORPHA:119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea... OMIM:616084
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Cerebellar vermis hypoplasia, Retinal degeneration OMIM:615630
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Marinesco-Sjogren Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Ataxia, Centrally nu... OMIM:248800
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Nystagmus, Hereditary Vertical
Ataxia OMIM:164150
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin... OMIM:618877
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Developmental And Epileptic Encephalopathy 82
Inability to walk, Spastic tetraplegia, Spastic paraparesis OMIM:618721
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... OMIM:277460
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Glutathionuria
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor OMIM:231950
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... OMIM:245200
Hypermanganesemia With Dystonia 1
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... OMIM:613280
Classic Galactosemia
Speech apraxia, Male infertility, Incoordination, Ataxia, Postural tremor, Premature ovarian insu... ORPHA:79239
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy... ORPHA:273
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Babinski sign, Impaired proprioception, Sensory ataxia, Difficulty ... OMIM:500013
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Involuntary movements, Abnormal hippocampus morphology, Aplasia/Hypoplasi... ORPHA:572013
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Limb ataxia,... OMIM:248500
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Senior-Loken Syndrome 9
Hypogonadism, Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia OMIM:618049
X-Linked Centronuclear Myopathy
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Ty... ORPHA:596
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Paraparesis, Cerebral palsy, Spastic tetraparesis OMIM:620358
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Hypospadias, Involuntary movements, Cryptorchidism, Inability to walk, Uns... ORPHA:3063
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Ataxia ORPHA:435638
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Cerebral cortical atrophy ORPHA:2570
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic a... OMIM:618249
Arthrogryposis Multiplex Congenita 6
Hypospadias, Akinesia, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogry... OMIM:619334
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus OMIM:619028
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Mepan Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials ORPHA:508093
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Dystonia ORPHA:306669
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decre... OMIM:614963
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Bilateral Generalized Polymicrogyria
Hypoplastic hippocampus, Abnormal hippocampus morphology, Spastic tetraplegia, Eyelid myoclonus, ... ORPHA:208447
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia OMIM:617916
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Pontocerebellar Hypoplasia, Type 13
Cerebellar vermis hypoplasia, Hypoplastic hippocampus, Hypoplasia of the pons, Inability to walk,... OMIM:618606
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... ORPHA:240085
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy OMIM:609304
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Oligozoospermia OMIM:314300
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Bardet-Biedl Syndrome 1
Decreased testicular size, Bone spicule pigmentation of the retina, Diabetes mellitus, Ataxia, Ag... OMIM:209900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cerebellar hypoplasia, Retinal degeneration OMIM:615249
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Poor fine motor coordination, Retinal degeneration ORPHA:542306
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Ataxia, Splenomegaly, Macronodu... ORPHA:699
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic... ORPHA:79263
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertonia, Left ventricular noncompaction, Incre... OMIM:617228
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy, Reduced sperm motility OMIM:615434
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Acute Transverse Myelitis
Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Paraparesis, Dissociated ... ORPHA:139417
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Intention tremor OMIM:610185
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ... ORPHA:171881
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Lymph nod... OMIM:300755
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Decrease... ORPHA:353298
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Babinski sign, Hand tremor, Distal sensory impairment, Steppage gait, Gait dist... ORPHA:101076
Gaucher Disease, Type Iii
Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Waardenburg Syndrome, Type 4A
Ataxia, Spastic paraparesis OMIM:277580
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Peho Syndrome
Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Undetectable visual e... OMIM:260565
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Arachnoid Cyst
Paraparesis, Inability to walk, Slurred speech, Distal sensory impairment, Hemiparesis, Gait dist... ORPHA:2356
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Chiari type I malformation, Rod-cone dystrophy, Cerebral cortical atrophy, Retina... ORPHA:166035
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Inability to walk, Babinski sign, Gait disturbance, Difficulty walking, Sp... ORPHA:280229
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno... OMIM:616875
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Babinski sign, Abno... ORPHA:79138
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Ocular albinism, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Abnormality of the die... ORPHA:2720
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variabil... ORPHA:171436
Lead Poisoning
Somatic sensory dysfunction, Abnormal sperm morphology, Decreased female libido, Abnormality of t... ORPHA:330015
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Abnormality of... ORPHA:79083
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Hydranencephaly
Optic nerve hypoplasia, Thalamic edema, Chorioretinal atrophy, Spastic diplegia, Opisthotonus, Ce... ORPHA:2177
Poliomyelitis
Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations ORPHA:2912
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Spastic tetraplegia, T ... OMIM:617237
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy ORPHA:702
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Chronic Bilirubin Encephalopathy
Cerebral palsy, Hypertonia, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked pote... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Cerebral palsy, Abnormal thalamic MRI signal intensity, Abnormal auditory evoked pote... ORPHA:529799
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Flexion contracture, Spastic paraplegia, Increased var... OMIM:619026
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Lower limb hypertonia, Spastic paraparesis, Loss of ... ORPHA:3208
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... ORPHA:443811
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Involuntary movements, Dysgenesis of the hippocampus, Hypoplasia of... OMIM:618325
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... ORPHA:3240
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Prune1-Related Neurological Syndrome
Clonus, Spastic tetraparesis, Inability to walk, Tongue fasciculations, Spastic paraparesis ORPHA:544469
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Hypoplasia of the pons, Gait ataxia, Cerebellar hypoplasia, Retinal degeneration, Dandy-Walker ma... OMIM:618479
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distri... ORPHA:221139
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Abnormal motor evoked potentials, Abnormal cerebell... ORPHA:909
Lopes-Maciel-Rodan Syndrome
Tremor, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia, Spasticity OMIM:617435
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Hippocampal malrotation OMIM:614402
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis OMIM:614831
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... OMIM:105210
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Pseudobulba... ORPHA:98889
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials... ORPHA:480898
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Reduce... OMIM:616433
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
4H Leukodystrophy
Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokin... ORPHA:289494
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Abnormal flash visual evoked potentials, Optic atrophy, Atrophy/Degeneration ... ORPHA:98755
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Impaired T cell function, Tremor, Splenomegaly OMIM:201100
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Friedreich Ataxia
Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:229300
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... OMIM:255310
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He... ORPHA:158048
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait OMIM:616795
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign, Dysmetria, Dystoni... OMIM:607694
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... OMIM:209920
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls OMIM:616719
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Agenesis of corpus callosum, Abnormal auditory evoked potentials OMIM:109120
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, Decreased ... ORPHA:227990
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom... OMIM:231550
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... OMIM:618060
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Opisthotonus, ... OMIM:617013
Infantile Krabbe Disease
Lower limb spasticity, Diffuse cerebral atrophy, Prolonged brainstem auditory evoked potentials, ... ORPHA:206436
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... ORPHA:423479
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Familial Partial Lipodystrophy, Dunnigan Type
Diabetes mellitus, Dysmenorrhea, Abnormality of skeletal muscle fiber size, Secondary amenorrhea,... ORPHA:2348
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Abnormality of visual evoke... ORPHA:2510
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity OMIM:616640
Intellectual Developmental Disorder, Autosomal Dominant 65
Posteriorly rotated ears, Ataxia, Dysgenesis of the hippocampus, Clumsiness, Low-set ears, Macrot... OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Agene... OMIM:236670
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Decreased T cell activation, Inc... OMIM:618213
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraparesis, Progressive spastic quadriplegia, Progressive gait ataxia, Falls... ORPHA:329308
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, Decreased ... ORPHA:227982
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph... OMIM:128100
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Hemiparesis, Decrease... ORPHA:1830
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Farber Disease
Paraparesis, Spasticity, Myoclonus ORPHA:333
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Abnormal hippocampus morphology, Optic atrophy, Protruding ear, Abnormal ... ORPHA:401777
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Slc35A2-Cdg
Cerebellar atrophy, Hypoplastic hippocampus, Spastic tetraparesis, Inability to walk, Sensorineur... ORPHA:356961
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... OMIM:614576
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Progressive spastic paraparesis, Spastic tetraparesis ORPHA:496756
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:1933
Cockayne Syndrome
Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Hypertonia, Retinal art... ORPHA:191
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Ritscher-Schinzel Syndrome 4
Ataxia, Dysgenesis of the hippocampus, Chorea, Athetosis, Cerebellar hypoplasia, Macrotia, Agenes... OMIM:619435
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... OMIM:609136
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of v... ORPHA:35069
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebellar vermis hypoplasia, Ankle flexion contracture, Elbow flexion contracture, Increased var... OMIM:619461
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ach... OMIM:620351
Cystathioninuria
Tremor ORPHA:212
Microcephaly-Capillary Malformation Syndrome
Hypoplastic hippocampus, Spastic tetraparesis, Optic atrophy, Cerebral atrophy, Myoclonus, Low-se... OMIM:614261
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Spasticity, Hypoplasia of the retina, Retinal dysplasia, Cerebell... OMIM:253280
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism ORPHA:178509
Spinocerebellar Ataxia Type 27
Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia ORPHA:98764
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Trichothiodystrophy
Multiple joint contractures, Cryptorchidism, Partial agenesis of the corpus callosum, Abnormal py... ORPHA:33364
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Abnormal pyramidal sign, Spastic paraparesis OMIM:260600
Rift Valley Fever
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis ORPHA:319251
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Native American Myopathy
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Inability to ... ORPHA:168572
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Oculodentodigital Dysplasia
Paraparesis, Spasticity, Ataxia, Tetraparesis OMIM:164200
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Parkinsonism, Tremor, Macroorchidism ORPHA:3077
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, D... OMIM:614381
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia OMIM:208920
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Hypoplastic hippocampus, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Po... ORPHA:314647
Werner Syndrome
Hypogonadism, Retinal degeneration OMIM:277700
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309256
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Myopathy, Brain atrophy, Increased variability in muscle fi... OMIM:604377
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... OMIM:269200
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Testicular neoplasm, Fove... ORPHA:71505
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials ORPHA:309263
Nephronophthisis 11
Retinal degeneration OMIM:613550
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Distal amyotrophy, Difficulty walking, Brain a... OMIM:164310
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Myoclonus, Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Spas... OMIM:612949
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Poor fine ... ORPHA:79282
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia OMIM:601374
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Partial absence of cerebellar vermis, Skeletal muscle hypertrophy, Macroglossia, Congenital contr... OMIM:613150
Cln5 Disease
Cerebellar atrophy, Atrophy/Degeneration affecting the central nervous system, Corpus callosum at... ORPHA:228360
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... OMIM:255125
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm... OMIM:312080
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Adrenocortical adenoma, Incre... ORPHA:681
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe... ORPHA:240071
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating... ORPHA:90793
Gapo Syndrome
Dysmenorrhea, Optic atrophy, Oligozoospermia, Hypogonadism, Amenorrhea ORPHA:2067
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Babinski sign, Distal sensory impairment, Poor fine motor coordination, Sp... ORPHA:320375
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Ataxia, Cerebral amyloid angiopathy, Intention tremor, Spasticity, Hearing impairment OMIM:117300
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Hereditary Cryohydrocytosis With Reduced Stomatin
Hypertonia, Ataxia, Decreased thalamic volume, Spastic paraplegia ORPHA:168577
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Craniopharyngioma
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... ORPHA:54595
Myotonic Dystrophy 2
Hypogonadism, Elevated circulating follicle stimulating hormone level, Oligozoospermia OMIM:602668
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Unsteady gait, Retinal hemorrhage, Abnorma... ORPHA:90324
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait d... ORPHA:90321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cerebellar vermis hypoplasia, Retinal dystrophy, Muscular dystrophy, Increased variability in mus... OMIM:616538
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:168600
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia, Cryptorchidism, Interhypothalamic adhesion, Micropenis, Agenesis of ... OMIM:618929
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal auditory evoked potentials, Tremor, Retinal... OMIM:216400
Mucopolysaccharidosis Type 3
Vocal cord paresis, Ataxia, Optic atrophy, Abnormal pyramidal sign, Central nervous system degene... ORPHA:581
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Brain atrophy OMIM:614457
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Xq21 Microdeletion Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Abnorm... ORPHA:1435
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Igg4-Related Pachymeningitis
Paraparesis, Somatic sensory dysfunction ORPHA:449427
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A... ORPHA:293978
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Dysesthesia, Progressive spastic paraparesis, Unsteady gait, Paresth... ORPHA:79093
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Unsteady gait, Dysmetria, Hand tremor ORPHA:3041
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Spasticity OMIM:616586
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypoplastic hippocampus, Hearing impairment OMIM:617780
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy, Global brain atrophy OMIM:614225
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... OMIM:242840
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Autosomal Recessive Spastic Paraplegia Type 20
Speech apraxia, Impaired vibratory sensation, Babinski sign, Slurred speech, Spastic dysarthria, ... ORPHA:101000
Norrie Disease
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, C... ORPHA:649
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis, Hyperto... ORPHA:309854
Hurler Syndrome
Neurodegeneration, Retinal degeneration OMIM:607014
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Vitreous hemorrhage, Retinal hemorrhage ORPHA:464321
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia ORPHA:240094
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Abnormal mitochondrial shape, Hypospadias, Ragged-red muscle fibers, Fle... ORPHA:17
Primary Ciliary Dyskinesia
Male infertility, Rod-cone dystrophy, Abnormal sperm motility, Female infertility ORPHA:244
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Orthostatic hypotension due to autonomic dysf... ORPHA:309271
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Loss of ambulation, Decreased amplitude of sensory action po... ORPHA:2388
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:615530
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormal hippocampus morphology, Chiari type I malformation, Microtia, Overfolded helix, Lop ear ORPHA:436003
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus OMIM:619424
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Ataxia, Spastic paraparesis ORPHA:369891
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... OMIM:614298
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Ataxia, Hemiparesis, Gait disturbance, Spastic paraparesis, Upper motor ne... ORPHA:395
Say-Barber-Miller Syndrome
Cryptorchidism, Babinski sign, Elbow flexion contracture, Optic atrophy, Knee flexion contracture... ORPHA:3132
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... OMIM:618056
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Fasciculations, Dysgyria, Limb hypertonia OMIM:620327
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Cholelithiasis OMIM:232800
Trisomy 10P
Poor motor coordination, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with ... ORPHA:171929
Amoebiasis Due To Free-Living Amoebae
Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal cerebellum morphology, Abno... ORPHA:68
Mogs-Cdg
Abnormality of visual evoked potentials, Absent brainstem auditory responses, Optic atrophy ORPHA:79330
Holoprosencephaly 7
Fusion of the left and right thalami, Agenesis of corpus callosum, Partial agenesis of the corpus... OMIM:610828
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
White-Sutton Syndrome
Abnormality of visual evoked potentials, Rod-cone dystrophy, Optic nerve hypoplasia, Cerebral atr... OMIM:616364
Duplication Of The Pituitary Gland
Lower limb spasticity, Abnormal pituitary gland morphology, Abnormal hypothalamus morphology, Con... ORPHA:314621
Scheie Syndrome
Cerebral palsy, Spastic paraparesis ORPHA:93474
Bohring-Opitz Syndrome
Retinal atrophy, Facial hypotonia, Inability to walk, Bilateral wrist flexion contracture, Optic ... ORPHA:97297
Young-Onset Parkinson Disease
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Dystonia, Spa... ORPHA:2828
Bloom Syndrome
Male infertility, Premature ovarian insufficiency, Oligozoospermia, Azoospermia, Retinopathy ORPHA:125
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Clitoral hypoplasia, Oligozoospermia OMIM:614813
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence OMIM:146500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ... OMIM:606002
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Cockayne Syndrome B
Ataxia, Cerebellar calcifications, Abnormal auditory evoked potentials, Abnormal pinna morphology... OMIM:133540
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Spastic paraparesis ORPHA:391408
Argininemia
Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis OMIM:207800
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Premature ovarian insufficiency, Di... ORPHA:79474
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Carney Complex
Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli cell neoplasm, Abnormal sper... ORPHA:1359
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Flexion contracture, Hyperinsulinemia, Skeletal muscl... OMIM:613327
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias... OMIM:181000
Mosaic Trisomy 9
Asplenia, Abnormal liver lobulation ORPHA:99776
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Decreased circulating total IgM, B l... ORPHA:83617
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Feingold Syndrome 1
Accessory spleen, Asplenia, Vocal cord paralysis, Polysplenia, Annular pancreas OMIM:164280
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis, Hypoplasia of the thymus OMIM:617022
Pitt-Hopkins Syndrome
Hypoplastic hippocampus, Incoordination, Cupped ear, Gait ataxia, Thickened helices OMIM:610954
Epidermal Nevus Syndrome
Progressive spastic paraparesis, Babinski sign, Hypertonia ORPHA:35125
Tetrasomy 9P
Abnormal chorioretinal morphology, Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, M... ORPHA:3310
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Dandy-Walker malformation, Limb hypertonia ORPHA:401973
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Myopathy, Delayed puberty, Cholelithiasis, Muscle... OMIM:611881
Williams Syndrome
Hypoplasia of penis, Ataxia, Involuntary movements, Hypogonadotropic hypogonadism, Atrophy/Degene... ORPHA:904
Osteopetrosis With Renal Tubular Acidosis
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Tetraparesis ORPHA:2785
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Eales Disease
Spastic paraparesis ORPHA:40923
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Split Cord Malformation
Paraparesis ORPHA:573278
Adrenomyeloneuropathy
Dysesthesia, Progressive spastic paraparesis, Babinski sign, Distal sensory impairment, Spasticit... ORPHA:139399
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Cerebral cortical atrophy, Epididymal c... OMIM:137920
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Ataxia, Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood... OMIM:266920
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Pontocerebellar atrophy, Facial palsy ORPHA:258
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... ORPHA:228123
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia OMIM:306955
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro... OMIM:249000
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility, Pituitary growth hormone cell adenoma ORPHA:730
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
Oculodentodigital Dysplasia
Spasticity, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:2710
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spasti... ORPHA:51
Biotinidase Deficiency
Ataxia, Spastic paraparesis ORPHA:79241
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Abnormality of visual evoked potentials ORPHA:512
Apert Syndrome
Abnormal morphology of the limbic system, Chiari type I malformation, Cerebellar hypoplasia, Agen... OMIM:101200
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Hurler Syndrome
Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis ORPHA:93473
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Abnormality of visual ... OMIM:203700
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Anemia, Hemiparesis, Abnormal thymus morphology, Hypoplas... OMIM:188400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia OMIM:265380
22Q11.2 Deletion Syndrome
Abnormality of the tonsils, Impaired T cell function, Splenomegaly, Hypoplasia of the thymus, Cho... ORPHA:567
Cystinosis, Nephropathic
Male infertility, Retinal pigment epithelial mottling, Cerebral atrophy, Pigmentary retinopathy, ... OMIM:219800
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Micropenis... ORPHA:64
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Aganglionic megaco... ORPHA:261537
Mowat-Wilson Syndrome
Broad-based gait, Agenesis of cerebellar vermis, Ataxia, Cerebellar vermis hypoplasia, Aganglioni... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Aganglionic megaco... ORPHA:261552
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Mowat-Wilson Syndrome
Aganglionic megacolon, Uplifted earlobe, Abnormal hippocampus morphology, Cupped ear, Large earlo... OMIM:235730
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Microphthalmia, Syndromic 2
Spastic paraparesis OMIM:300166

Histopathology

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

There is no histopathology data for Agtpbp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Agtpbp1.

No publications found that use IMPC mice or data for Agtpbp1.

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