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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
Dysplastic corpus callosum, Global brain atrophy, Inability to walk, Tongue fasciculations, Spast... OMIM:618276
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebellar cyst, Tongue fasciculations, Spasticity, Hypoplasia of the pons, Cerebr... 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
Spastic gait, Babinski sign, Paraplegia, Clonus, Spastic paraplegia, Impaired vibratory sensation OMIM:300750
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spastic Paraplegia 72B, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia OMIM:620606
Spastic Paraplegia With Associated Extrapyramidal Signs
Spastic paraplegia, Abnormality of extrapyramidal motor function OMIM:182800
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus OMIM:607584
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spastic Paraplegia 61, Autosomal Recessive
Spastic paraplegia, Inability to walk, Spasticity, Scissor gait OMIM:615685
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy, Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy, Gait ataxia ORPHA:458798
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Babinski sign, Limb ataxia, Lower limb spasticity, Cerebellar vermis atrophy, Spas... OMIM:614322
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia, Hypogonadotropic hypogonadism ORPHA:1180
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Cerebellar... OMIM:615268
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia, Hepatosplenomegaly OMIM:242520
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Atonic-Astatic Syndrome Of Foerster
Abasia, Ataxia, Inability to walk OMIM:209100
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Cerebellar atrophy, Ataxia, Testicular atrophy OMIM:613909
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Hoffmann sign, Tip-toe gait, Spasticity, Impaired vibration sensatio... OMIM:615625
Spinocerebellar Ataxia Type 30
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia ORPHA:211017
Spastic Ataxia With Congenital Miosis
Hemiplegia/hemiparesis, Ataxia, Spastic ataxia ORPHA:1182
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Neuhauser-Eichner-Opitz Syndrome
Hypertonia, Ataxia, Spasticity, Rigidity ORPHA:2672
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Cerebellar atrophy, Testicular atrophy ORPHA:276183
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spinocerebellar Ataxia Type 4
Impaired proprioception, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired vibratory... ORPHA:98765
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617769
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome
Paraplegia, Spasticity ORPHA:2818
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Ceroid Lipofuscinosis, Neuronal, 5
Dysdiadochokinesis, Cerebellar atrophy, Cerebral cortical atrophy, Limb tremor, Ataxia, Loss of a... OMIM:256731
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
X-Linked Complicated Spastic Paraplegia Type 1
Spastic paraplegia, Upper motor neuron dysfunction, Ataxia ORPHA:306617
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Spastic parap... ORPHA:423275
Autosomal Recessive Spastic Paraplegia Type 24
Tip-toe gait, Scissor gait, Spasticity, Clonus, Spastic paraplegia ORPHA:101004
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Myoclonus, Retinal dege... OMIM:204500
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
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 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Spastic Paraplegia 27, Autosomal Recessive
Spastic paraplegia, Babinski sign, Impaired vibration sensation at ankles, Lower limb spasticity OMIM:609041
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Truncal ataxia, Ataxia, Cerebellar hypoplasia, Dysmetria OMIM:617584
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance ORPHA:2274
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy OMIM:603649
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Cerebellar Ataxia, Cayman Type
Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia... ORPHA:94122
Deafness, Autosomal Recessive 104
Positive Romberg sign, Prelingual sensorineural hearing impairment, Absent brainstem auditory res... OMIM:616515
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Hydrocephaly-Cerebellar Agenesis Syndrome
Cerebellar agenesis, Ataxia ORPHA:1397
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Gait ataxia, Upper lim... ORPHA:98769
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 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spastic Paraparesis-Deafness Syndrome
Impaired pain sensation, Gait disturbance, Hemiplegia/hemiparesis, Ataxia, Spastic paraparesis ORPHA:2815
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance ORPHA:67047
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Autosomal Spastic Paraplegia Type 30
Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax... ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 43
Spastic gait, Babinski sign, Difficulty walking, Spasticity, Poor fine motor coordination, Impair... ORPHA:320370
Alpers-Huttenlocher Syndrome
Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat... ORPHA:726
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia OMIM:619061
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Cerebellar atrophy, Gait ataxia OMIM:617133
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Ataxia, Cerebellar atrophy, Inability to walk OMIM:619333
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Impaired vibration sensation at ankles, Sensorineural hearing impairment, Dysdiado... ORPHA:101007
Kennedy Disease
Erectile dysfunction, Gait disturbance, Skeletal muscle atrophy, Type II diabetes mellitus, Decre... ORPHA:481
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Developmental And Epileptic Encephalopathy 60
Global brain atrophy, Inability to walk, Hypsarrhythmia, Hippocampal malrotation, Spastic tetrapl... OMIM:617929
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Babinski sign, Steppage gait, Rimmed vacuoles, Facia... OMIM:617158
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:117210
Episodic Ataxia, Type 8
Ataxia, Episodic ataxia, Slurred speech, Intention tremor OMIM:616055
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Spastic Ataxia 4, Autosomal Recessive
Limb ataxia, Babinski sign, Gait ataxia, Lower limb hypertonia, Spastic ataxia, Spastic parapares... OMIM:613672
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Cerebral atrophy, Abnormality of extrapyramidal motor function, Macular degenerati... OMIM:204200
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Bradykinesia, Chorea, Brain atrophy, Thalamic calcification, Cerebellar dentate nucleus calcifica... OMIM:618317
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
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
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Tremor, Hereditary Essential, 1
Action tremor, Hand tremor, Postural tremor OMIM:190300
Ataxia-Tapetoretinal Degeneration Syndrome
Gait disturbance, Ataxia, Rod-cone dystrophy, Aplasia/Hypoplasia of the cerebellum, Pigmentary re... ORPHA:1178
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Cerebellar atrophy, Ataxia, Retinal dystrophy OMIM:614706
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Paraparetic Variant Of Guillain-Barré Syndrome
Impaired distal proprioception, Paraparesis ORPHA:231445
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration, Distal sensory impairment OMIM:619764
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Calf muscle hypertrophy, Tremor, Limb muscle weakness, Decreased fertility, Testi... OMIM:313200
Spermatogenic Failure 17
Male infertility OMIM:617214
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels... OMIM:619531
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency
Limb ataxia, Difficulty walking, Cerebellar vermis atrophy, Brain atrophy, Truncal ataxia ORPHA:363432
Immunodeficiency 18
Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi... OMIM:615615
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy OMIM:180020
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Bradykinesia, Limb ataxia, Hypertonia, Babinski sign, Cerebellar calcifications, Thalamic calcifi... OMIM:618824
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Torticollis, Azoospermia, Head tremor, Intention tremor, H... OMIM:613724
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Hypertonia, Cerebral cortical atrophy, Olivopontocerebellar atrophy, Ataxia, Chori... ORPHA:2732
X-Linked Spinocerebellar Ataxia Type 4
Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor ORPHA:85292
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Babinski sign, Abnormal sperm head morphology, Difficulty walking, Impaired vib... ORPHA:320391
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... OMIM:618655
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Cerebellar atrophy, G... OMIM:604432
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
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Intention tremor, Ataxia, Unsteady gai... OMIM:616948
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Gne Myopathy
Hip flexor weakness, Steppage gait, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed ... ORPHA:602
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Chiari type I malformation, Impaired distal proprioception, Spastici... OMIM:619742
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Ataxia, Los... OMIM:600143
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Cerebell... OMIM:613908
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Cereb... ORPHA:276193
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia ORPHA:99014
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration, Ataxia ORPHA:85334
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertonia, Myoclonus, S... ORPHA:254343
Spinal Muscular Atrophy, Type Iv
Type 1 muscle fiber predominance, Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles... OMIM:271150
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Retinopathy, Ataxia, Neurodegeneration, Pigm... OMIM:610951
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Giant somat... OMIM:618876
Cach Syndrome
Limb ataxia, T2 hypointense thalamus, Premature ovarian insufficiency, Cerebral atrophy, Optic at... ORPHA:135
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis, Spastic diplegia OMIM:257970
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Cerebellar ve... ORPHA:284332
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Myoclonus, Familial, 1
Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus OMIM:614937
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy OMIM:610381
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Rod-cone dystrophy, Ataxia OMIM:158500
Spinocerebellar Ataxia 20
Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor OMIM:608687
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Spinocerebellar Ataxia, Autosomal Recessive 29
Inability to walk, Lower limb spasticity, Cerebellar vermis atrophy, Cerebellar atrophy, Corpus c... OMIM:619389
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Lower limb spasticity, Sensorineural hearing impairment, Abnormal auditory ev... ORPHA:320401
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Parkinsonism with favorable response to dopaminergic medication, Impaired distal vibration sensat... OMIM:157640
Autosomal Recessive Spastic Paraplegia Type 71
Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Cerebral atrophy, Macular degeneration, Spasticity, Ataxia, Increased neuronal aut... OMIM:256730
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Cerebellar hypoplasia, Abnormality of retinal pigmentation, Ataxia ORPHA:2246
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain
Cerebral degeneration, Ataxia OMIM:260970
Basal Ganglia Calcification, Idiopathic, 5
Cerebellar calcifications, Chorea, Athetosis, Thalamic calcification, Parkinsonism, Postural trem... OMIM:615483
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Falls,... ORPHA:178464
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Cerebellar atrophy, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Steppage gait, Distal sensory impairment, Paraparesis OMIM:302802
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Poretti-Boltshauser Syndrome
Retinal thinning, Cerebellar cyst, Retinal dystrophy, Oculomotor apraxia, Cerebellar vermis hypop... OMIM:615960
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Gait disturbance, Hemiplegia/hemiparesis, Ataxia, Spastic ataxia, Aplasia/Hypoplas... ORPHA:2572
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Tremor, Hereditary Essential, 5
Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Spinocerebellar Ataxia Type 37
Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Truncal ataxia, Myoclonus, Gait dis... ORPHA:363710
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Tip-toe gait, Babinski sign, Lower limb spasticity, Macular degeneration, Impaired ... OMIM:604360
Spastic Paraplegia 48, Autosomal Recessive
Spastic gait, Tip-toe gait, Lower limb spasticity, Broad-based gait, Spastic paraplegia, Ataxia, ... OMIM:613647
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Mast Syndrome
Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetosis, Gait disturban... OMIM:248900
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Retinal dystrophy, Elongated superior cer... ORPHA:370022
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai... OMIM:615957
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Premature ovarian insufficiency, Difficulty walking, Cerebellar atrophy, Cerebral ... OMIM:619425
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Deleted in azoospermia
Azoospermia OMIM:400003
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Vocal tremor, Head tremor OMIM:618866
Camos Syndrome
Optic atrophy, Brain atrophy, Spasticity, Progressive extrapyramidal movement disorder, Ataxia, A... ORPHA:83472
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Truncal ataxia, Cerebral atrophy, Cerebellar atrophy OMIM:611726
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Falls, Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diam... OMIM:618848
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity ORPHA:228169
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Hoffmann sign, Babinski sign, Proximal muscle weakness in upper limbs, Difficulty walking, Distal... OMIM:620402
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:300853
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Nescav Syndrome
Optic atrophy, Babinski sign, Cerebral atrophy, Inability to walk, Appendicular spasticity, Cereb... OMIM:614255
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Nephronophthisis 14
Cerebellar vermis hypoplasia, Retinal degeneration OMIM:614844
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor OMIM:611092
Alexander Disease Type I
Abnormal thalamic MRI signal intensity, Spasticity, Cerebellar atrophy, Ataxia, Abnormal pyramida... ORPHA:363717
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism OMIM:620103
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Tubulinopathy-Associated Dysgyria
Oculomotor apraxia, Cerebellar vermis hypoplasia, Dysgyria, Abnormal thalamus morphology, Agyria,... ORPHA:467166
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis ORPHA:101005
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... OMIM:614561
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:613494
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Nephronophthisis 15
Cerebellar vermis hypoplasia, Retinal degeneration OMIM:614845
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus ORPHA:308
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Incoordination, Tremo... OMIM:302800
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619949
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Gordon Holmes Syndrome
Cerebral atrophy, Secondary amenorrhea, Chorea, Cerebellar atrophy, Oligomenorrhea, Ataxia, Prima... OMIM:212840
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Spasticity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Cerebellar atrophy, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria OMIM:608029
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, T2 hypointense thalamus, Inability to walk, Cerebellar atrophy, Frequent falls,... ORPHA:1947
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait... OMIM:615768
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Oliver-Mcfarlane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Dist... OMIM:275400
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst... OMIM:610245
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Macular degeneration, Truncal ataxia,... ORPHA:284289
Cerebellar Ataxia, Cayman Type
Bradykinesia, Broad-based gait, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Intention tremor... OMIM:601238
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism OMIM:300911
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Tremor, Hippocampal sclerosis, Myoclonus OMIM:615400
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy OMIM:601553
X-Linked Non Progressive Cerebellar Ataxia
Spastic dysarthria, Cerebellar vermis hypoplasia, Truncal ataxia, Frequent falls, Intention tremo... ORPHA:314978
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Degeneration of the striatum, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidit... OMIM:609161
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Acti... OMIM:616291
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Spinocerebellar Ataxia 4
Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Cerebellar atrophy, Limb... OMIM:600223
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Cerebell... ORPHA:98762
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Hypogonadism, Retinal degeneration, Cryptorchidism, Micropenis, Pigmentary retinopathy ORPHA:3363
Spinocerebellar Ataxia, Autosomal Recessive 18
Babinski sign, Oculomotor apraxia, Cerebellar vermis atrophy, Incoordination, Truncal ataxia, Cer... OMIM:616204
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Ataxia, Sensory, 1, Autosomal Dominant
Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di... OMIM:608984
Tibial Muscular Dystrophy
Steppage gait, Difficulty walking, Rimmed vacuoles, EMG: myopathic abnormalities, Increased varia... ORPHA:609
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebral cortical atrophy, Cerebellar hypoplasia, Decreased thalamic volume, Simplified gyral pat... OMIM:619072
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus, EEG with generalized epileptiform discharges OMIM:616187
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Spasticity, Abnormal auditory evoked potentials, At... ORPHA:99852
Spastic Paraplegia 15, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Paraplegia, Macular degeneration, Clonus, Abn... OMIM:270700
Autosomal Dominant Spastic Paraplegia Type 73
Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Impaired vibration sensat... ORPHA:444099
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal audi... OMIM:601382
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Retinal atrophy, Cerebella... OMIM:610127
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Drusen, Choroidal neovascularization, Distal sensory impairm... OMIM:608895
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria OMIM:276880
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Diff... OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular dystrophy, Calf muscle pseudohypertrophy, Waddling gait, Facial palsy, EMG: myopathic ab... OMIM:254110
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Proximal muscle weakness in upper limbs, Fasciculations, Rimmed vacuoles, Scapular... OMIM:619733
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce... OMIM:618982
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Hypertonia, Spasticity, Decreased thalamic volume, Clonus, Diffuse cerebral atrophy OMIM:613668
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Cerebellar atrophy, Pr... ORPHA:101112
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Babinski sign, Ankle clonus, Progressive spasticity, Upper motor neuron dysfunction, Progressive ... ORPHA:506353
Diaminopentanuria
Spasticity, Neurodegeneration, Ataxia OMIM:222350
Dentatorubral-Pallidoluysian Atrophy
Atrophy of the dentate nucleus, Chorea, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis OMIM:125370
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A... ORPHA:277
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abnormality of extrapyrami... ORPHA:275872
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Intention tremor, Gait ataxia, Unsteady gait,... OMIM:615386
Spastic Paraplegia 30, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Spastic paraplegia, Ataxia, Ankle clonus, Dys... OMIM:610357
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements OMIM:611031
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Inability to walk, Facial hypotonia, Autophagic vacuoles, EMG: myopathic abn... ORPHA:266
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation, Ataxia ORPHA:2579
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Retinal dystrophy, Abnormal upper motor neuron morphology, Spasticity, C... OMIM:215470
Mucolipidosis Iv
Optic atrophy, Babinski sign, Cerebellar atrophy, Spastic tetraplegia, Retinal degeneration OMIM:252650
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Spastic tetraplegia, Inability to walk, Decreased thalamic volume OMIM:618646
Spinocerebellar Ataxia, Autosomal Recessive 15
Unsteady gait, Cerebellar atrophy, Ataxia, Gait ataxia OMIM:615705
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atro... OMIM:616230
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Bardet-Biedl Syndrome 4
External genital hypoplasia, Hypogonadism, Retinal degeneration, Cryptorchidism, Rod-cone dystrophy OMIM:615982
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Babinski sign, Distal sensory impairment, Lower limb amyotrophy, Ragged-r... OMIM:616924
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis OMIM:105550
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia OMIM:611105
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, M... OMIM:613608
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Frequent falls, Gait ataxia, Ataxia, Dysmetria OMIM:617691
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia, Unsteady gait ORPHA:284271
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula... OMIM:608161
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Rimmed vacuoles, Increased variability in muscle fiber diameter, C... OMIM:615424
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Macular dystrophy, Hypertonia, Spasticity, Tremor, Subcortical cerebral atrophy, A... ORPHA:33445
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Babinski sign, Apraxia, Gait disturbance, Cerebral cortical atrophy, Myo... OMIM:618193
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Brain atrophy, Conductive hearing impairment, Hypoplastic hippocampus, Agenesis... ORPHA:85179
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Retinopathy, Retinal pigment epithelial mottling, Ataxia, Rod-cone d... OMIM:551500
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia OMIM:619303
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Cone/cone-rod dystrophy, Reduced sperm motility, Retinal degeneration, Rod-cone dy... OMIM:602271
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Oculomotor apraxia, Retinal atrophy, Cerebellar atrophy, Corpus callosum atrophy, Rigidity, Hypog... ORPHA:412057
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Impotence, Gait ataxia, Ataxia, Abnormal pons morphology, Impaired vibratory ... ORPHA:98
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens ORPHA:48
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia 46
Limb ataxia, Positive Romberg sign, Cerebellar atrophy, Gait ataxia, Dysmetria OMIM:617770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in upper limbs, Difficulty walking, Lower limb spasticity... OMIM:613954
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Central core regions in muscle fibers, Progressive extrapyrami... ORPHA:401768
Wolfram Syndrome 1
Optic atrophy, Cerebral atrophy, Diabetes insipidus, Tremor, Hypothyroidism, Ataxia, Diabetes mel... OMIM:222300
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula... OMIM:612692
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Frequent falls, Gait at... OMIM:607483
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
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls OMIM:616921
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia OMIM:183050
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dystonia ORPHA:309169
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Unsteady gait, Pigmentary retinopathy OMIM:520000
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Focal T2 hyperintense thalamic lesion, Progressive cerebellar ataxia, Dysdiadochok... ORPHA:254881
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Hypogonadism OMIM:615993
Hsd10 Mitochondrial Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Spastic tetraplegia, Retinal degeneration, ... OMIM:300438
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Tremor, Limb mus... OMIM:619473
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Wadd... OMIM:617760
Spinocerebellar Ataxia 26
Limb ataxia, Truncal ataxia, Incoordination, Cerebellar atrophy, Gait ataxia OMIM:609306
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Spinocerebellar Ataxia, Autosomal Recessive 17
Limb ataxia, Oculomotor apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Truncal ataxia, ... OMIM:616127
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia... ORPHA:284324
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Optic atrophy, Rigidity, Myoclonus OMIM:619057
Immunodeficiency 102
Hepatomegaly, Anemia, Decreased circulating total IgM, Partial absence of specific antibody respo... OMIM:301082
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Hypoplasia of the pons, Hemiparesis, Unsteady gait, Agenesi... OMIM:617542
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr... OMIM:619281
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar vermis atrophy, Truncal ataxia, Cerebellar atrophy, Gait disturbance, Ataxia OMIM:614229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Calf muscle hypertrophy, Scapular winging, EMG: myopathic abnormalitie... OMIM:608099
Leukoencephalopathy, Progressive, With Ovarian Failure
Babinski sign, Premature ovarian insufficiency, Apraxia, Spasticity, Cerebellar atrophy, Ataxia, ... OMIM:615889
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Tremor, Chorea ORPHA:494526
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Dystonia, Frequent falls, Myoclonus OMIM:619647
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Decreased n... OMIM:618138
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Reduced natur... OMIM:619374
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
X-Linked Parkinsonism-Spasticity Syndrome
Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c... ORPHA:363654
Aceruloplasminemia
Torticollis, Abnormality of extrapyramidal motor function, Chorea, Blepharospasm, Cogwheel rigidi... OMIM:604290
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign, Choreoatheto... ORPHA:53583
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Type II lissencephaly... ORPHA:370959
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cerebellar atrophy, Involuntary movements, Myoclonus, Abnormal pyramidal si... OMIM:619780
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Poor fine motor coordination, Cerebellar... ORPHA:79264
Spinocerebellar Ataxia 29
Limb ataxia, Truncal titubation, Broad-based gait, Cerebellar vermis hypoplasia, Cerebellar vermi... OMIM:117360
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy, Hypogonadism OMIM:615981
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Spastic Paraplegia 85, Autosomal Recessive
Optic atrophy, Babinski sign, Impaired proprioception, Torticollis, Impaired temperature sensatio... OMIM:619686
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradykinesia, Inability to walk, Lower limb spasticity, Oromotor apraxia, Broad-based gait, Spast... OMIM:617854
Coasy Protein-Associated Neurodegeneration
Parkinsonism, Spastic paraparesis, Abnormal thalamus morphology, Difficulty walking ORPHA:397725
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Primary Angiitis Of The Central Nervous System
Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis ORPHA:140989
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic tetraparesis, Spastic ataxia, Progressive spastic paraparesis ORPHA:496756
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma... OMIM:150550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan... OMIM:618986
Alpha-B Crystallin-Related Late-Onset Myopathy
Accumulation of muscle fiber desmin, Difficulty walking, Muscle fiber inclusion bodies, Facial di... ORPHA:399058
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Positive Romberg sign, Impaired distal vibration sensation, Cerebellar atrophy, Gait ataxia, Rigi... OMIM:258450
Spastic Ataxia 2, Autosomal Recessive
Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro... OMIM:611302
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Cerebral atrophy, Difficulty walking, Limb hypertonia, Brain atrophy, Spasticity, ... ORPHA:442835
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine
Cerebellar atrophy, Progressive cerebellar ataxia OMIM:618412
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Macular coloboma, Geographic atrophy, Brain atrophy, Abnormal auditory evoked p... OMIM:619260
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Abnormal T cell count, Decrease... OMIM:615767
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Athetosis, Cerebellar atrophy, Corpus callosum atrophy, Ataxia, Tetraparesis, Hypo... OMIM:619310
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, Hypergonadotropic hypogonadism ORPHA:88637
Spastic Paraplegia 10, Autosomal Dominant
Spastic gait, Babinski sign, Distal sensory impairment, Lower limb spasticity, Impaired vibration... OMIM:604187
Familial Congenital Mirror Movements
Poor fine motor coordination, Dysgenesis of the hippocampus, Cerebral palsy, Agenesis of corpus c... ORPHA:238722
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Oculomotor apraxia, Cerebellar vermis hypoplasia, Dilated... OMIM:610688
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Writer's cramp, Torticollis, Resting tremor, Incoordination, Spastic... OMIM:128230
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas... OMIM:618969
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Dystonia 23
Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Myoclonus OMIM:614860
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Babinski sign, Hypoplasia of the pons, Increased variability in muscle fiber diameter, Skeletal m... OMIM:620542
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Retinopathy, Hypoplasia of the pons, Cerebel... OMIM:616171
Myotonic Dystrophy 1
Cerebral atrophy, Cholelithiasis, Facial diplegia, Hypogonadism, Testicular atrophy OMIM:160900
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Spinocerebellar Ataxia 49
Babinski sign, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Cerebellar atrop... OMIM:619806
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:603909
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplit... OMIM:125250
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Gait disturbance, Increased variability in muscle fiber diameter, Myopathy, Proxim... ORPHA:1878
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, Increased variability in muscle... ORPHA:34516
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gait ataxia, Dilated ... OMIM:213200
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... ORPHA:206549
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Testicular atrophy OMIM:601163
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Optic atrophy, Babins... OMIM:614877
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia OMIM:247800
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Akinesia, Cerebellar cortical atrophy, Abnormal cranial nerve morphology, Macular ... ORPHA:247234
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Decreased nerve cond... ORPHA:206443
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... OMIM:614470
Abetalipoproteinemia
Retinopathy, Retinal degeneration, Ataxia OMIM:200100
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebral atrophy, Babinski sign, Positive Romberg sign, Spasticity, Cerebellar atrophy, Corpus ca... OMIM:618088
Myopathy, Sarcoplasmic Body
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Increased variability in muscle fibe... OMIM:620286
Aceruloplasminemia
Limb ataxia, Abnormal thalamic MRI signal intensity, Akinesia, Torticollis, Abnormal dentate nucl... ORPHA:48818
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill... ORPHA:331206
Adult Krabbe Disease
Hoffmann sign, Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Babin... ORPHA:206448
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Azoospermia OMIM:615703
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Abnorm... ORPHA:280234
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, Broad-based gait, B lymphocyt... OMIM:619705
Combined Oxidative Phosphorylation Defect Type 27
EEG with periodic lateralized epileptiform discharges, Involuntary movements, Hearing impairment,... ORPHA:477774
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Oculomotor apraxia, Inability to walk, Cerebellar vermis hypoplasia, Optic nerve hyp... ORPHA:300570
47,Xyy Syndrome
Congenital stationary night blindness, Male infertility, Dysgenesis of the cerebellar vermis, Hyp... ORPHA:8
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Dyst... OMIM:607317
Behr Syndrome
Optic atrophy, Babinski sign, Cerebellar vermis atrophy, Truncal ataxia, Tremor, Cerebellar atrop... OMIM:210000
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, S... OMIM:601455
Adrenoleukodystrophy
Limb ataxia, Impaired vibration sensation at ankles, Incoordination, Truncal ataxia, Paraparesis,... OMIM:300100
Spastic Paraplegia 39, Autosomal Recessive
Babinski sign, Atrophy of the spinal cord, Cerebellar atrophy, Gait disturbance, Ataxia, Progress... OMIM:612020
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... OMIM:620430
Spinocerebellar Ataxia 13
Optic atrophy, Limb ataxia, Progressive cerebellar ataxia, Limb dysmetria, Spasticity, Impaired d... OMIM:605259
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe... OMIM:618108
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Cerebral atrophy, Lower limb spasticity, Ankle clonus, Upper limb dy... OMIM:614409
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Blepharospasm, Interictal EEG abnormality, Gait disturbance, Limb myoclonus, ... ORPHA:352582
Inclusion Body Myositis
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Abnorm... ORPHA:611
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance... OMIM:617145
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Scapular winging, Gait disturbance, Increased variability in muscle fiber... OMIM:618129
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Cerebellar atrophy, Gait ataxia, Increased variability in muscle fiber diamete... OMIM:617915
Spastic Paraplegia 75, Autosomal Recessive
Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Impaired distal vibration sensation,... OMIM:616680
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Dystonia 24
Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia OMIM:615034
Neuroferritinopathy
Bradykinesia, Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Babinski sign, Dif... ORPHA:157846
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Immunodeficiency, Common Variable, 6
Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:613496
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, We... OMIM:618940
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu... OMIM:602450
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Abnormal thalamic MRI signal intensity, Decreased nerve conduction velocity, Abnor... ORPHA:485421
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I... OMIM:300400
Nemaline Myopathy 2
Sternocleidomastoid amyotrophy, Muscle fiber splitting, Calf muscle pseudohypertrophy, Rimmed vac... OMIM:256030
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Choreoathetosis, Ataxia, Paraparesis ORPHA:27
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Dysmetria, Myoclonus OMIM:619191
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Global brain atrophy, Inability to walk, Tongue fasciculations, Spast... OMIM:618276
X-Linked Adrenoleukodystrophy
Paralysis, Incoordination, Gait disturbance, Paraparesis, Hemiparesis, Progressive spastic parapa... ORPHA:43
Parkinson Disease 7, Autosomal Recessive Early-Onset
Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ... OMIM:606324
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Tremor OMIM:182980
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Babinski sign, Difficulty walking, Lower limb spasticity, Atrophy/Degeneration aff... OMIM:612319
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Spinocerebellar Ataxia Type 29
Oculomotor apraxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... ORPHA:208513
Ataxia-Pancytopenia Syndrome
Babinski sign, Anemia, Distal sensory impairment, Pancytopenia, Ankle clonus, Impaired vibration ... OMIM:159550
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Scap... OMIM:301075
Spinocerebellar Ataxia Type 17
Cerebellar Purkinje layer atrophy, Torticollis, Neuronal loss in central nervous system, Generali... ORPHA:98759
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Young Syndrome
Azoospermia OMIM:279000
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Myasthenic Syndrome, Congenital, 14
Weakness of facial musculature, Ragged-red muscle fibers, Waddling gait, Scapular winging, Muscle... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... OMIM:253601
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Cone/cone-rod dystrophy, ... OMIM:617406
Rhombencephalosynapsis
Aganglionic megacolon, Abnormal dentate nucleus morphology, Fusion of the left and right thalami,... ORPHA:59315
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Ataxia, Spastic ataxia, Myoclonus, Spastic pa... OMIM:614487
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, C... OMIM:617810
Urocanic Aciduria
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia ORPHA:210128
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Waddling gait, Increased variability in muscle fiber diameter, Unsteady gait, Li... OMIM:612937
Alg6-Cdg
Cerebellar hypoplasia, Retinal degeneration, Rod-cone dystrophy, Ataxia ORPHA:79320
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Immunodeficiency 68
Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess OMIM:612260
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Limb ataxia, Abnormality of extrapyramidal motor function, Spasticity, Cerebellar ... OMIM:610743
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In... OMIM:610532
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Tay-Sachs Disease
Optic atrophy, Abnormal thalamic MRI signal intensity, Global brain atrophy, Inability to walk, A... ORPHA:845
Spinocerebellar Ataxia 15
Limb ataxia, Truncal ataxia, Cerebellar atrophy, Gait ataxia, Action tremor, Postural tremor OMIM:606658
Dystonia 16
Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Postural tremor ORPHA:210571
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy... ORPHA:352403
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, W... OMIM:619566
Perrault Syndrome 1
Gonadal dysgenesis, Cerebellar atrophy, Gait ataxia, Intention tremor, Ataxia, Primary amenorrhea... OMIM:233400
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Parkinson Disease 17
Bradykinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Increased variability in muscle fiber diameter, Hip contracture, Type 1 muscle... OMIM:619042
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl... ORPHA:488650
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Atrophy/Degeneration affecting the brainstem, Sensorineural hearing impairment, Imp... ORPHA:99027
Spermatogenic Failure 14
Male infertility, Round spermatid arrest, Azoospermia OMIM:615842
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Spastic gait, Babinski sign, Lower limb spasticity, Degeneration of the lateral co... OMIM:607259
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Increase... OMIM:615559
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased variability in... OMIM:620386
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Tremor, Gait disturbance, Spastic paraparesis, Somatic sen... ORPHA:101077
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Spinocerebellar Ataxia 50
Apraxia, Cerebellar vermis atrophy, Chorea, Cerebellar atrophy, Head tremor, Hearing impairment, ... OMIM:620158
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Babinski sign, Increased variability in muscle fiber diameter, Increased intramyocellular lipid d... OMIM:619065
Spinocerebellar Ataxia Type 19/22
Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca... ORPHA:98772
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Atrophy/Degeneration involving the spinal cord, Impaired ... ORPHA:70595
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Myopathy, Tubular Aggregate, 1
Frequent falls, Weakness of the intrinsic hand muscles, Increased variability in muscle fiber dia... OMIM:160565
Adult-Onset Nemaline Myopathy
Bradykinesia, Difficulty walking, Type 1 muscle fiber predominance, Upper limb muscle weakness, N... ORPHA:171442
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Difficulty walking, Calf muscle hypertrophy, Rimmed vacuoles, Scapular wi... OMIM:603689
Myopathy, Myofibrillar, 3
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... OMIM:609200
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased variability in muscle fi... ORPHA:2593
Spastic Paraplegia Type 7
Optic atrophy, Spastic gait, Babinski sign, Ragged-red muscle fibers, Impaired vibration sensatio... ORPHA:99013
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur... ORPHA:420485
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa... OMIM:604326
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev... ORPHA:169154
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, L... OMIM:242700
Spinocerebellar Ataxia 5
Limb ataxia, Broad-based gait, Incoordination, Dysdiadochokinesis, Cerebellar atrophy, Upper moto... OMIM:600224
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Hyperkinetic movements, Spastic... ORPHA:391428
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Ankle flexion contracture, Central core regions in muscle fibers, Nemaline bodies, Increased vari... OMIM:117000
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Pyruvate Dehydrogenase E2 Deficiency
Babinski sign, Hypertonia, Difficulty walking, Broad-based gait, Gait disturbance, Speech apraxia... ORPHA:79244
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism OMIM:605909
Primary Lateral Sclerosis
Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Upper motor neuron dysfunction, Prog... ORPHA:35689
Joubert Syndrome 25
Cerebellar hypoplasia, Ataxia, Oculomotor apraxia OMIM:616781
Neurodegeneration With Brain Iron Accumulation 6
Tip-toe gait, Bradykinesia, Gait disturbance, Rigidity, Spastic tetraplegia, Spastic paraparesis OMIM:615643
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Distal sensory impairment, Spa... OMIM:612674
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Bradykinesia, Cerebral atrophy, Distal sensory impairment, Ragged-red muscle fiber... ORPHA:254886
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Global brain atrophy, Prelingual sen... ORPHA:52368
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Tip-toe gait, Broad-based gait, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Waddling ... ORPHA:353
Sjogren-Larsson Syndrome
Macular dots, Retinal thinning, Macular degeneration, Spasticity, Macular crystals, Retinal pigme... OMIM:270200
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Myoclonic Epilepsy, Familial Infantile
Limb ataxia, Impaired tandem gait, Ataxia, Gait ataxia OMIM:605021
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le... OMIM:618048
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia... ORPHA:216873
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Facial palsy, Limb muscle weakness, Increased variability in muscle fiber... OMIM:616313
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Myopathy, Scapulohumeroperoneal
Facial palsy, Scapular winging, Nemaline bodies, Increased variability in muscle fiber diameter, ... OMIM:616852
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Posttransplant Acute Limbic Encephalitis
EEG with focal epileptiform discharges, Abnormal autonomic nervous system physiology, Ataxia, Myo... ORPHA:163921
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Macular degeneration, Spastic tetraparesis, Choroidal neovascularization ORPHA:404451
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Childhood-Onset Nemaline Myopathy
Bradykinesia, Generalized limb muscle atrophy, Difficulty walking, Facial diplegia, Waddling gait... ORPHA:171439
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Frequent falls, Increased variability in muscle fiber diameter, Flexion contract... OMIM:300718
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Lower limb spasticity, ... ORPHA:251282
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dysmetria OMIM:607458
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic gait, Truncal ataxia, Spasticity, Dysdiadochokinesis, Clonus, Spastic paraplegia, Poor co... OMIM:238970
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Meckel Syndrome 13
Retinopathy, Cerebellar hypoplasia, Ataxia, Oculomotor apraxia OMIM:617562
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,... OMIM:253700
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased proportion of class-switched memory B cells, Increased circulating IgE level, Decreased... OMIM:618944
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Difficulty walking, Calf muscle hypertrophy, Waddling gait, Triceps weakness,... ORPHA:86812
Myoclonus, Intractable, Neonatal
Chorea, Dandy-Walker malformation, Athetosis, Increased variability in muscle fiber diameter, Myo... OMIM:617235
Myopathy, Distal, Tateyama Type
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... OMIM:614321
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scapular winging, Waddling gait, Congenital contracture, Increased... OMIM:605637
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Abnormal Z disk morphology, Increased variability in... OMIM:618654
Spastic Paraplegia 79B, Autosomal Recessive
Fasciculations, Cerebellar atrophy, Spastic paraplegia, Head titubation, Ataxia, Impaired vibrato... OMIM:615491
Spermatogenic Failure 13
Male infertility, Azoospermia OMIM:615841
Adrenal Hypoplasia, Congenital
Delayed puberty, Muscular dystrophy, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... OMIM:300200
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Diaphragmatic paralysis, Facial palsy, EMG: myopathic abnormalities, Muscl... OMIM:614399
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Hypertonia, Retinal degeneration, Opisthotonus OMIM:616896
Sjögren-Larsson Syndrome
Macular degeneration, Spasticity, Retinopathy, Abnormality of retinal pigmentation, Abnormal pyra... ORPHA:816
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Cryptorchidism, Myopathy, Lateral ventricle dilat... OMIM:616816
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Ataxia, Cone/cone-rod dystrophy OMIM:249270
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Chorea, EEG with spike-wave complexes (>3.5 Hz), Hypop... OMIM:619317
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, Tremor, Dystonia, ... ORPHA:521406
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Spastic Ataxia, Charlevoix-Saguenay Type
Spastic gait, Babinski sign, Decreased sensory nerve conduction velocity, Distal sensory impairme... OMIM:270550
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Cerebellar atrophy, Gait atax... OMIM:609270
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Ham... OMIM:300696
Spinocerebellar Ataxia 2
Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigidity, Ataxia, Myoclonu... OMIM:183090
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Decrease... ORPHA:465508
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Difficulty walking, Progressive cerebellar ataxia, Weakness of... ORPHA:502423
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
Spinocerebellar Ataxia 34
Limb ataxia, Fasciculations, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Cer... OMIM:133190
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im... OMIM:601596
Adenohypophysitis
Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co... ORPHA:95512
Mirage Syndrome
Anemia, Paraplegia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Panhypophysitis
Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co... ORPHA:95513
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Camptodactyly of finger, Flexion contracture, Agenesis of corpus callosum, Ambiguous... ORPHA:261519
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Dystonia 7, Torsion
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,... OMIM:602124
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy... OMIM:617675
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple... OMIM:618495
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Abnormal thalamic MRI signal intensity, Difficulty walking, Distal sensory impairm... ORPHA:254930
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, I... ORPHA:238329
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Sclerosing cholangitis, Pancytopenia, Panhypogammaglobulinemia, Neut... ORPHA:572
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Dravet Syndrome
Bradykinesia, Global brain atrophy, Interictal epileptiform activity, Incoordination, Poor fine m... ORPHA:33069
Dystonia 12
Bradykinesia, Torticollis, Tremor, Dystonia, Parkinsonism OMIM:128235
Leukoencephalopathy With Ataxia
Limb ataxia, Choroidal neovascularization, Chorioretinal atrophy, Retinoschisis, Optic neuropathy... OMIM:615651
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Oculopharyngodistal Myopathy 4
Fatty replacement of skeletal muscle, Rimmed vacuoles, Tremor, Autophagic vacuoles, EMG: myopathi... OMIM:619790
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormality of B cell physiology, Neutropenia in presence of anti-ne... OMIM:613179
Dystonia 9
Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia OMIM:601042
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Type 1 muscle fiber predominance, Tongue fasciculations, Hypoplastic male external genitalia, Cry... OMIM:618823
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spastic dysarthria, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Ataxia, Myoclonus, Spasti... ORPHA:313772
Glutamate-Cysteine Ligase Deficiency
Jaundice, Reticulocytosis, Hepatosplenomegaly, Ataxia, Hemolytic anemia ORPHA:33574
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... OMIM:213600
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Spasticity, Portal hypertension, Bone marrow hypocellularity, Ataxia, Abnormally lo... OMIM:617341
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Inability to walk, Cortical myoclonus, Spasticity, Cerebellar atrophy, Gait dis... ORPHA:168491
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscular dystrophy, Torticollis, Increased variability in muscle fiber diameter, Skeletal muscle ... OMIM:613204
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:620482
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat... OMIM:619510
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Hsd10 Disease
Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreoathetosis ORPHA:391417
Charcot-Marie-Tooth Disease Type 1F
Somatic sensory dysfunction, Limb ataxia, Impaired proprioception, Decreased nerve conduction vel... ORPHA:101085
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Cognitive Impairment With Or Without Cerebellar Ataxia
Optic nerve hypoplasia, Cerebellar atrophy, Gait ataxia, Ataxia, Dysmetria OMIM:614306
Ring Chromosome 21 Syndrome
Azoospermia, Spasticity, Infertility, Gait disturbance, Amenorrhea ORPHA:1445
Bardet-Biedl Syndrome 17
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Hypogonadism, Poor coordination... OMIM:615994
Rhabdomyolysis, Susceptibility To, 1
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance, Rhabdomyolysis,... OMIM:620235
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Spastic Ataxia 3, Autosomal Recessive
Cerebellar vermis atrophy, Spasticity, Cerebellar atrophy, Gait ataxia, Cerebral cortical atrophy... OMIM:611390
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Dystonia, Myoclonus OMIM:619651
Familial Acute Necrotizing Encephalopathy
Hypertonia, Spasticity, Abnormal thalamus morphology, Gait disturbance, Rigidity, Spastic tetrapl... ORPHA:88619
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Tremor, Clonus, Spastic paraplegia OMIM:600363
Japanese Encephalitis
Pill-rolling tremor, Focal T2 hyperintense thalamic lesion, Hypertonia, Paralysis, Respiratory pa... ORPHA:79139
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity, Cerebellar edema, Global brain atrophy ORPHA:363558
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus ORPHA:98763
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Inability to walk, Increased variability in muscle fiber diameter, Centrally ... OMIM:617066
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cel... ORPHA:276
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Optic nerve h... OMIM:617302
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ... OMIM:102700
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis, Camptodactyly, Increased variability in muscle fiber diamete... OMIM:620161
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Ataxia, Unsteady gait, Dysmetria OMIM:619405
Spinocerebellar Ataxia 6
Progressive cerebellar ataxia, Incoordination, Truncal ataxia, Cerebellar atrophy, Frequent falls... OMIM:183086
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Scapular winging, Flexion contracture, Myopathy OMIM:616471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas... OMIM:614069
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat... OMIM:606367
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Cerebral atrophy, Spasticity, Rigidity, Ataxia, Retinal degeneration OMIM:616211
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Eyelid myoclonus, Atrophy/Degeneration affecting the brainstem, ... OMIM:619606
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Frequent falls, Hypoplasia of ... OMIM:617523
Gracile Bone Dysplasia
Hypoplastic spleen, Asplenia OMIM:602361
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis OMIM:261630
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Babinski sign, Abnormal fundus morphology, Macular degeneration, Dysdiadochokin... ORPHA:94147
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Involuntary movements, Dystonia, ... OMIM:606703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter,... OMIM:608807
Refsum Disease, Classic
Somatic sensory dysfunction, Retinal degeneration, Rod-cone dystrophy, Ataxia OMIM:266500
Mitochondrial Membrane Protein-Associated Neurodegeneration
Bradykinesia, Babinski sign, Spasticity, Shuffling gait, Frequent falls, Gait disturbance, Rigidi... ORPHA:289560
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity, Spasticity, Exaggerated startle response, Cerebral cortic... ORPHA:309155
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar... ORPHA:98773
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Distal sensory impairment... OMIM:606070
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Hypertonia, Delayed brainstem auditory evoked response conduction time, Lower limb... OMIM:616881
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Babinski sign, Bradykinesia, Akinesia, Global brain atrophy, Abnormality of extrap... OMIM:234200
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Steppage gait, Abnormal female external genitalia morphology, Hypoplasia of t... ORPHA:168563
Band Heterotopia
Spasticity, Hypoplastic hippocampus, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar d... OMIM:615181
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:169160
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Nephronophthisis 9
Retinal degeneration OMIM:613824
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia, Tongue fasciculations OMIM:619851
Spinocerebellar Ataxia Type 8
Bradykinesia, Limb ataxia, Spastic dysarthria, Cerebellar vermis atrophy, Spasticity, Cerebellar ... ORPHA:98760
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Abnormal dentate nucleus morphology, Spasticity, Reduced amygdala volume, Hypoplastic hippocampus... OMIM:619517
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Congenital Myopathy 14
Knee flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diamet... OMIM:618414
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
48,Xxyy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Tremor, Hypergonadotropic hypogonadism, Decreased ... ORPHA:10
Multiple Sulfatase Deficiency
Cerebral atrophy, Spasticity, Cerebellar atrophy, Ataxia, Retinal degeneration OMIM:272200
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... OMIM:612999
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Panhypopituitarism, Oligozoosperm... ORPHA:91351
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy, Ataxia OMIM:615558
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity, Optic neuritis, Diaphragmatic paralysis, Involuntary move... ORPHA:83597
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Ataxia-Telangiectasia-Like Disorder 1
Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, Freque... OMIM:604391
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Sensory ... OMIM:613470
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis ORPHA:329284
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Congenital Myopathy 3 With Rigid Spine
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Increased vari... OMIM:602771
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Retinitis Pigmentosa 23
Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e... OMIM:300424
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism, Increased variability in muscle fiber diameter, Centrally nucleated skeletal musc... OMIM:618484
Leigh Syndrome
Optic atrophy, Abnormal thalamic MRI signal intensity, Hyperkinetic movements, Abnormality of ext... ORPHA:506
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Myoclonus, Hypoplas... OMIM:208900
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Congenital Myopathy 20
Scapular winging, Frequent falls, Congenital contracture, Nemaline bodies, Increased variability ... OMIM:620310
Ullrich Congenital Muscular Dystrophy
Torticollis, Elbow flexion contracture, EMG: myopathic abnormalities, Frequent falls, Increased v... ORPHA:75840
Progeria-Short Stature-Pigmented Nevi Syndrome
Premature ovarian insufficiency, Hypospadias, Broad-based gait, Abnormal thalamus morphology, Hyp... ORPHA:2959
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... OMIM:146110
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Lesch-Nyhan Syndrome
Abnormality of extrapyramidal motor function, Spasticity, Opisthotonus, Choreoathetosis, Testicul... OMIM:300322
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Myopathy, Myofibrillar, 7
Difficulty walking, Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion... OMIM:617114
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Tip-toe gait, Abnormality of extrapyramidal motor function, Spasticity, Pallidal d... ORPHA:157850
Spastic Paraplegia 20, Autosomal Recessive
Spastic gait, Babinski sign, Difficulty walking, Impaired vibration sensation at ankles, Lower li... OMIM:275900
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Centrally n... OMIM:620246
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Orthostatic hypotension, Inability to walk, Abnormality of extra... ORPHA:2822
Ciliary Dyskinesia, Primary, 53
Hypoplastic spleen, Polysplenia, Abdominal situs inversus OMIM:620642
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Atrophy/Degeneration involving the spinal cord, Positive Romberg sign, Impaired distal vibration ... OMIM:607459
Alexander Disease Type Ii
Babinski sign, Spasticity, Rigidity, Ataxia, Spastic paraparesis, Palatal tremor ORPHA:363722
Lissencephaly Due To Tuba1A Mutation
Dysplastic corpus callosum, Aganglionic megacolon, Cerebellar vermis hypoplasia, Optic nerve hypo... ORPHA:171680
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fasciculations, Abnormal motor neuron morphology, Brain atrophy, Rimmed vacuoles, Upper motor neu... ORPHA:52430
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Optic disc hypoplasia, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Fusion of the left a... OMIM:619306
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus ORPHA:324588
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy OMIM:605808
Meningioma
Impotence, Ataxia, Abnormal hypothalamus physiology, Focal T2 hypointense thalamic lesion, Diffic... ORPHA:2495
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Hypertonia, Decreased proportion of CD3-... ORPHA:760
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor, EMG: myopathic abnormalities, Increased variability ... ORPHA:397744
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Cogwheel rigidity, Gait... OMIM:600116
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Retinal degeneration, Oculomotor apraxia OMIM:615630
Cone-Rod Dystrophy 2
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... OMIM:120970
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Autosomal Spastic Paraplegia Type 58
Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba... ORPHA:397946
Late-Onset Retinal Degeneration
Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d... ORPHA:67042
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebellar cyst, Tongue fasciculations, Spasticity, Hypoplasia of the pons, Cerebr... ORPHA:2254
Neurofibromatosis, Familial Spinal
Paraparesis OMIM:162210
Spinocerebellar Ataxia Type 13
Optic atrophy, Bradykinesia, Limb ataxia, Difficulty walking, Torticollis, Impaired distal vibrat... ORPHA:98768
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Leukodystrophy, Hypomyelinating, 2
Babinski sign, Progressive spasticity, Intention tremor, Rigidity, Head titubation, Ataxia, Spast... OMIM:608804
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Nemaline ... OMIM:620265
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology ORPHA:557003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Broad-based gait, Calf muscle hypertrophy, Waddling gait, Increased variabili... ORPHA:119
Congenital Myopathy 10B, Mild Variant
Increased endomysial connective tissue, Generalized limb muscle atrophy, Difficulty walking, Type... OMIM:620249
X-Linked Dystonia-Parkinsonism
Bradykinesia, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with favorable response to d... ORPHA:53351
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Difficulty walking, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle ... OMIM:616812
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy OMIM:611615
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Ataxia With Vitamin E Deficiency
Impaired proprioception, Progressive cerebellar ataxia, Positive Romberg sign, Dysdiadochokinesis... OMIM:277460
Nystagmus, Hereditary Vertical
Ataxia OMIM:164150
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Macular atrophy, Optic disc pallor, Reduced sperm motility OMIM:615434
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Polymicrogyria, Truncal ataxia, Tremor, Spasticity, Gait... OMIM:618877
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, EMG: myopathic abnormalities, Limb muscle weakness, Cryptorchidism, Increased va... ORPHA:486815
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Centrally nucleated skel... OMIM:611705
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Truncal ataxia,... ORPHA:101
Developmental And Epileptic Encephalopathy 82
Spastic tetraplegia, Spastic paraparesis, Inability to walk OMIM:618721
Heme Oxygenase 1 Deficiency
Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic... OMIM:614034
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Senior-Loken Syndrome 9
Macular degeneration, Hypogonadism, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Steinert Myotonic Dystrophy
Facial diplegia, Impotence, Abnormality of the tongue muscle, Decreased response to growth hormon... ORPHA:273
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Mannosidosis, Alpha B, Lysosomal
Limb ataxia, Babinski sign, Spasticity, Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy,... OMIM:248500
Parkinson Disease 21
Bradykinesia, Rigidity, Tremor, Parkinsonism OMIM:616361
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn... ORPHA:791
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cerebellar cyst, Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Babinski sign, Impaired proprioception, Difficulty walking, Sensory ataxia, Impaired vibratory se... OMIM:500013
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
49,Xyyyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... ORPHA:99330
Glutathionuria
Action tremor, Dysdiadochokinesis, Tremor, Gray matter heterotopia OMIM:231950
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscular dystrophy, Ankle flexion contracture, Increased variability in muscle fiber diameter, Ce... OMIM:617072
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Gait imbalance, Secondary amenorrhea, Incoordi... ORPHA:79239
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Spasticity, Involuntary movements, Abnormal hippocampus morphology, Aplas... ORPHA:572013
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology, Cryptorchidism ORPHA:404440
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Spastic tetraparesis, Cerebral palsy, Paraparesis OMIM:620358
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
X-Linked Centronuclear Myopathy
Inability to walk, Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 ... ORPHA:596
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... OMIM:608203
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy, Abnormal anteri... ORPHA:1145
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Arthrogryposis Multiplex Congenita 6
Akinesia, Hypospadias, Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogry... OMIM:619334
Multiple System Atrophy
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... ORPHA:102
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Facial palsy, Nemaline bodie... OMIM:255320
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Aganglionic megacolon, Gait imbalance, Retinal dystrophy... OMIM:209900
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic atrophy, Akinesia, Lower limb spasticity, Truncal ataxia, Cerebellar atrophy, Optic neuropa... OMIM:618249
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Dystonia, Ataxia, Parkinsonism OMIM:618049
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Increased variability i... OMIM:613157
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology, Ataxia ORPHA:435638
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum ORPHA:2570
Parkinson-Dementia Syndrome
Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism OMIM:260540
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration, Poor fine motor coordination ORPHA:542306
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:619028
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
X-Linked Intellectual Disability, Snyder Type
Inability to walk, Hypospadias, Camptodactyly, Involuntary movements, Abnormality of the Leydig c... ORPHA:3063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cerebellar hypoplasia, Retinal degeneration OMIM:615249
Pontocerebellar Hypoplasia, Type 13
Inability to walk, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Gait ataxia, Hypoplas... OMIM:618606
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Dystonia, Myoclonus, Abnormal pyramidal sign ORPHA:139485
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar... OMIM:614963
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Ring Chromosome 22 Syndrome
Impaired pain sensation, Azoospermia, Agenesis of corpus callosum, Gait ataxia ORPHA:1446
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Brea... ORPHA:2232
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis OMIM:300894
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Dysmetria OMIM:617916
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, Ataxia OMIM:614307
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Spasticity, Hypoplastic hippocampus, Lateral ventricle d... ORPHA:208447
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Diffuse cerebral atrophy, Vestibular arefle... ORPHA:3240
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Paraplegia, Pan... ORPHA:79124
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Paget Disease Of Bone 2, Early-Onset
Tetraparesis, Paraparesis OMIM:602080
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, ... ORPHA:240085
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Increased variability in muscle fiber diameter, Proximal amyotrophy, Skeletal... OMIM:614302
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism, Rigidity OMIM:614251
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy OMIM:620422
Myopathic Ehlers-Danlos Syndrome
Tip-toe gait, Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, ... ORPHA:536516
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Myo... ORPHA:79263
Pelizaeus-Merzbacher Disease In Female Carriers
Babinski sign, Difficulty walking, Inability to walk, Lower limb spasticity, Gait disturbance, Ha... ORPHA:280229
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Acute Transverse Myelitis
Babinski sign, Impaired proprioception, Paraplegia, Abnormality of extrapyramidal motor function,... ORPHA:139417
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertonia, Left ventricular noncompaction, Incre... OMIM:617228
X-Linked Charcot-Marie-Tooth Disease Type 2
Babinski sign, Steppage gait, Distal sensory impairment, Gait disturbance, Spastic paraparesis, H... ORPHA:101076
Pearson Syndrome
Hepatomegaly, Anemia, Pancytopenia, Reticulocytosis, Bone marrow hypocellularity, Macronodular ci... ORPHA:699
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia, Torticollis OMIM:314300
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Muscle fiber necrosis, Increased variability in muscle fiber diameter, Centrally nucleated skelet... OMIM:620138
Cap Myopathy
Tip-toe gait, Lower limb amyotrophy, Facial palsy, Frequent falls, Increased variability in muscl... ORPHA:171881
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Truncal ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Dysmetria OMIM:610185
Waardenburg Syndrome, Type 4A
Spastic paraparesis, Ataxia OMIM:277580
Lead Poisoning
Decreased male libido, Poor gross motor coordination, Infertility, Oligozoospermia, Poor fine mot... ORPHA:330015
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park... OMIM:619725
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Gaucher Disease, Type Iii
Spastic paraparesis, Ataxia, Myoclonus OMIM:231000
Pparg-Related Familial Partial Lipodystrophy
Maternal diabetes, Abnormality of skeletal muscle fiber size, Secondary amenorrhea, Calf muscle p... ORPHA:79083
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Incoordination, Poor fine motor coordination, Rod-cone dystrophy, Patchy atrophy of the retinal p... ORPHA:436245
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... ORPHA:99750
Agammaglobulinemia, X-Linked
Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepat... OMIM:300755
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Hydranencephaly
Optic nerve hypoplasia, Chorioretinal atrophy, Cerebral cortical atrophy, Opisthotonus, Dysgenesi... ORPHA:2177
Ullrich Congenital Muscular Dystrophy 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... OMIM:616470
Arachnoid Cyst
Distal sensory impairment, Inability to walk, Gait disturbance, Paraparesis, Hemiparesis, Tetrapa... ORPHA:2356
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hypertonia, Ataxia, Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum, Ocular... ORPHA:2720
Agammaglobulinemia 1, Autosomal Recessive
Panhypogammaglobulinemia, B lymphocytopenia, Rectal abscess, Decreased circulating antibody level... OMIM:601495
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decreased nerve conduct... ORPHA:909
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity, Impaired proprioception, Babinski sign, Abnormal cranial ... ORPHA:79138
Typical Nemaline Myopathy
Facial diplegia, Waddling gait, Facial palsy, Gait disturbance, Nemaline bodies, Arthrogryposis m... ORPHA:171436
Poliomyelitis
Hyperkinetic movements, Inability to walk, Fasciculations, Paraparesis, Paralysis, Paresthesia ORPHA:2912
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, Mothe... OMIM:226670
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Retinal degeneration, Rod-cone dystrophy, Chiari type I malformation ORPHA:166035
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia ORPHA:70594
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly... ORPHA:443811
48,Xxxy Syndrome
Hypoplasia of penis, Azoospermia, Infertility, Tremor, Decreased testicular size, Type II diabete... ORPHA:96263
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Dandy-Walker malformation, Gait ataxia, Hypoplasia of the pons, Cerebellar hypoplasia, Retinal de... OMIM:618479
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus... OMIM:612953
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Isolated Succinate-Coq Reductase Deficiency
Babinski sign, Spasticity, Spastic tetraparesis, Frequent falls, Lower limb hypertonia, Ataxia, L... ORPHA:3208
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Ullrich Congenital Muscular Dystrophy 1A
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... OMIM:254090
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia OMIM:620133
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Spastic paraplegia, D... OMIM:300055
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Distal sensory impairment, Skeletal... OMIM:151800
Leber Congenital Amaurosis 15
Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat... OMIM:613843
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Hypertonia, Abnormal auditory evoked potentials, Cerebral... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Hypertonia, Abnormal auditory evoked potentials, Cerebral... ORPHA:529799
Prune1-Related Neurological Syndrome
Inability to walk, Tongue fasciculations, Spastic tetraparesis, Clonus, Spastic paraparesis ORPHA:544469
Lissencephaly 9 With Complex Brainstem Malformation
Cerebellar vermis hypoplasia, Spasticity, Cerebellar hemisphere hypoplasia, Dysgenesis of the hip... OMIM:618325
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased sensory nerve conduction velocity, Spastic paraplegia, Increased variability in muscle ... OMIM:619026
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
49,Xxxxy Syndrome
Hypoplasia of penis, Azoospermia, Infertility, Tremor, Decreased testicular size, Type II diabete... ORPHA:96264
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho... OMIM:615607
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Decreased response to growth hormone stimulation test, Hypospadi... ORPHA:96179
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly... ORPHA:221139
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Positive Romberg sign, Intention tre... OMIM:105210
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Hippocampal malrotation OMIM:614402
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Reduced antigen-specific T cell proliferation, Eo... OMIM:616433
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Tremor, Gait ataxia, Ataxia, Abnormal pyramidal sign, Dysmetria OMIM:614831
Familial Glucocorticoid Deficiency
Azoospermia, Tetraplegia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchid... ORPHA:361
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
4H Leukodystrophy
Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper motor neuron dysf... ORPHA:289494
Bilateral Perisylvian Polymicrogyria
Limb hypertonia, Oromotor apraxia, Lower limb spasticity, Spasticity, Paraparesis, Spastic tetrap... ORPHA:98889
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske... OMIM:616867
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Panhypogammaglobulinemia, Cutaneous anergy, Viral hepatitis, Biliary tract abnormali... OMIM:209920
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ... ORPHA:83471
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal muscle fibers, ... OMIM:255310
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Tremor, Impaired T cell function, Ataxia, Splenomegaly OMIM:201100
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Postural tremor, Hypogonadotropic hypogonadi... OMIM:607694
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Spasticity, Tremor, Frequent falls, Gait ataxia OMIM:616719
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... ORPHA:752
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Macular atrophy, Chorioretinal coloboma, Retinal dystrophy OMIM:212550
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic spleen OMIM:601186
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Tremor, Ataxia, Spastic ataxia, Abnormal pyramidal sign OMIM:616795
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Limb dystonia, A... ORPHA:352649
Scheie Syndrome
Retinal degeneration OMIM:607016
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Spasticity, In... OMIM:618213
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Agenesis of corpus callosum OMIM:109120
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Secondary amenorrhea, Skeletal muscle hypertrophy, Dys... ORPHA:2348
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Oromandibular dystonia, Generalized dystonia, Scissor gait, Spastici... OMIM:617013
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo... ORPHA:158048
Epilepsy, Progressive Myoclonic, 10
Progressive cerebellar ataxia, Spasticity, Ataxia, Spastic ataxia, Myoclonus, Spastic tetraplegia OMIM:616640
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir... OMIM:301000
Intellectual Developmental Disorder, Autosomal Dominant 65
Low-set ears, Dysgenesis of the hippocampus, Macrotia, Posteriorly rotated ears, Ataxia, Agenesis... OMIM:619320
Cockayne Syndrome
Delayed puberty, Retinal atrophy, Cerebellar atrophy, Action tremor, Cerebellar dentate nucleus c... ORPHA:191
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Abnormal lymphocyte physiology, I... ORPHA:1830
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... OMIM:601777
Fatty Acid Hydroxylase-Associated Neurodegeneration
Progressive spastic paraparesis, Falls, Upper motor neuron dysfunction, Progressive extrapyramida... ORPHA:329308
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,... OMIM:128100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebral atrophy, Ankle flexion contracture, Knee flexion contracture, Cerebellar vermis hypoplas... OMIM:619461
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Muscular dystrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia,... OMIM:236670
Optic Atrophy-Intellectual Disability Syndrome
Optic atrophy, Optic nerve hypoplasia, Abnormal helix morphology, Spasticity, Hearing impairment,... ORPHA:401777
Farber Disease
Spasticity, Paraparesis, Myoclonus ORPHA:333
Combined Oxidative Phosphorylation Deficiency 59
Retinal degeneration OMIM:620646
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Slc35A2-Cdg
Cerebral atrophy, Inability to walk, Hypsarrhythmia, Atrophy/Degeneration affecting the brainstem... ORPHA:356961
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Hemiplegia/hemiparesis, Dystonia, Ataxia, Abnormal pyrami... ORPHA:96
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Portal hypertension, Decreased circulating IgG level, Severe B lymphocy... OMIM:620005
Paget Disease Of Bone 5, Juvenile-Onset
Retinopathy, Macular scar, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Pancytopenia, Cho... OMIM:614576
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Distal sensory impa... OMIM:609136
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration ORPHA:168549
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Ritscher-Schinzel Syndrome 4
Dandy-Walker malformation, Chorea, Athetosis, Dysgenesis of the hippocampus, Macrotia, Ataxia, Ag... OMIM:619435
Congenital Myopathy 22A, Classic
Ragged-red muscle fibers, Waddling gait, Scapular winging, Congenital finger flexion contractures... OMIM:620351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Cerebellar cyst, Retinal dysplasia, Spasticity, Retinal atrophy, Cerebellar dyspla... OMIM:253280
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformation of the hepatic... OMIM:615415
Cystathioninuria
Tremor ORPHA:212
Rift Valley Fever
Paralysis, Decerebrate rigidity, Hemiparesis, Paraparesis ORPHA:319251
Perry Syndrome
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism ORPHA:178509
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... ORPHA:448237
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Optic atrophy, Low-set ears, Spastic tetraparesis, Hearing impairment, Hypoplas... OMIM:614261
Werner Syndrome
Retinal degeneration, Hypogonadism OMIM:277700
8P11.2 Deletion Syndrome
Retinal dystrophy, Hypoplasia of penis, Azoospermia, Abnormality of the hypothalamus-pituitary ax... ORPHA:251066
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Spinocerebellar Ataxia Type 27
Limb ataxia, Truncal ataxia, Tremor, Gait ataxia, Hand tremor ORPHA:98764
Leukodystrophy, Hypomyelinating, 3
Abnormal pyramidal sign, Spastic paraparesis, Appendicular spasticity OMIM:260600
Oculodentodigital Dysplasia
Tetraparesis, Spasticity, Ataxia, Paraparesis OMIM:164200
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Trichothiodystrophy
Gonadal dysgenesis, Hypertonia, Macular degeneration, Spasticity, Gait ataxia, Intention tremor, ... ORPHA:33364
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Chorioretinal coloboma, Optic disc coloboma OMIM:602499
Papillorenal Syndrome
Chiari type I malformation, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Reti... OMIM:120330
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, Ataxia, Abnormal... OMIM:614381
Hypokalemic Periodic Paralysis
Respiratory paralysis, Adrenocortical adenoma, Periodic hypokalemic paresis, Increased intramyoce... ORPHA:681
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Absent circulating B cells, Enteroviral hepatitis, Panhypogammaglobulinemia, Abnormal T cell count OMIM:307200
Pseudoxanthoma Elasticum
Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr... OMIM:264800
Parkinson Disease 8, Autosomal Dominant
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607060
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Truncal ataxia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia OMIM:208920
Nephronophthisis 11
Retinal degeneration OMIM:613550
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Oculopharyngodistal Myopathy 1
Difficulty walking, Brain atrophy, Distal amyotrophy, Rimmed vacuoles, Tremor, Facial palsy, Auto... OMIM:164310
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Hypertonia, Tremor, Spasticity, Rigidity OMIM:176500
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebral atrophy, Brain atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Inc... OMIM:604377
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Cerebral atrophy, Abnormality of macular pigmentation, Poor fine... ORPHA:79282
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Abnormal pyramidal sign OMIM:618060
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency... OMIM:269200
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Intention tremor, Cerebral cortical atrophy, Short ear, Nonprogressive cerebellar ataxia, Hypopla... ORPHA:314647
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Mucopolysaccharidosis Type 3
Optic atrophy, Hypertonia, Spasticity, Central nervous system degeneration, Gait disturbance, Voc... ORPHA:581
Aprosencephaly And Cerebellar Dysgenesis
Cerebellar dysplasia, Poorly formed metencephalon, Retinal dysplasia OMIM:601374
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Increased variability in muscle fiber diameter, Right ventricular hypertrophy, Myoclo... OMIM:612949
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating antibody level, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology... ORPHA:293978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Cerebellar cyst, Skeletal muscle hypertrophy, Congenital contracture, Cerebel... OMIM:613150
Cockayne Syndrome Type 3
Difficulty walking, Retinal dystrophy, Brain atrophy, Retinal atrophy, Retinal hemorrhage, Intent... ORPHA:90324
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Intention tremor, Spastic paraplegia, Head titubation, Dystonia, Ataxia, ... OMIM:312080
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... ORPHA:99429
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Skeletal muscle at... OMIM:620278
Myopathy With Lactic Acidosis, Hereditary
Difficulty walking, Frequent falls, Increased variability in muscle fiber diameter, Rhabdomyolysi... OMIM:255125
Autosomal Recessive Spastic Paraplegia Type 55
Babinski sign, Distal sensory impairment, Lower limb spasticity, Spasticity, Poor fine motor coor... ORPHA:320375
Native American Myopathy
Inability to walk, Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contractu... ORPHA:168572
Gapo Syndrome
Optic atrophy, Oligozoospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ... ORPHA:85167
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism with fav... ORPHA:240071
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Irregular menstruation, Ret... OMIM:216400
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Diffuse cerebella... ORPHA:71505
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Myotonic Dystrophy 2
Oligozoospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:602668
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
H Syndrome
Delayed puberty, Azoospermia, Camptodactyly, Decreased testicular size, Hypogonadism, Amenorrhea,... ORPHA:168569
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... OMIM:616866
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Decreased response to growth hormone stimulatio... ORPHA:1435
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Male infertility, Female external genitalia in individua... ORPHA:90793
Craniopharyngioma
Optic atrophy, Enlarged pituitary gland, Pituitary hypothyroidism, Abnormal hypothalamus morpholo... ORPHA:54595
Hereditary Cryohydrocytosis With Reduced Stomatin
Spastic paraplegia, Hypertonia, Ataxia, Decreased thalamic volume ORPHA:168577
Cockayne Syndrome Type 1
Optic atrophy, Difficulty walking, Lower limb spasticity, Tremor, Absent brainstem auditory respo... ORPHA:90321
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Intention tremor, Hearing impairment, Ataxia, Cerebral amyloid angiopathy OMIM:117300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Cerebellar cyst, Retinal dystrophy, Cerebellar vermis hypoplasia, Increased v... OMIM:616538
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone-rod dystrophy, ... OMIM:608940
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion... OMIM:619381
Senior-Loken Syndrome 8
Rod-cone dystrophy, Macular atrophy, Retinal dystrophy OMIM:616307
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage OMIM:177850
Igg4-Related Pachymeningitis
Somatic sensory dysfunction, Paraparesis ORPHA:449427
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Foix-Alajouanine Syndrome
Difficulty walking, Gait imbalance, Dysesthesia, Frequent falls, Unsteady gait, Progressive spast... ORPHA:79093
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials OMIM:193700
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Hand tremor, Unsteady gait, Dysmetria ORPHA:3041
Heterotaxy, Visceral, 2, Autosomal
Polysplenia, Abdominal situs inversus, Asplenia OMIM:605376
Hurler Syndrome
Retinal degeneration, Neurodegeneration OMIM:607014
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria OMIM:602481
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Spastic paraplegia, Pseudobulbar paralysis OMIM:616586
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism OMIM:168600
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hearing impairment, Hypoplastic hippocampus OMIM:617780
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Autosomal Recessive Spastic Paraplegia Type 20
Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Speech apraxia, Ankle clonus, Impair... ORPHA:101000
Vici Syndrome
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... OMIM:242840
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Asplenia OMIM:619123
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Retinal hemorrhage, Vitreous hemorrhage, Thalamic hemorrhage ORPHA:464321
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor... ORPHA:199351
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligozoospermia, Female pseudohermaphroditism, Oligomenorrhea, Precocious puberty, A... ORPHA:786
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Bradykinesia, Hypertonia, Difficulty walking, Truncal ataxia, Poor fine motor coordination, Dysdi... ORPHA:309854
Kniest Dysplasia
Retinal detachment, Vitreoretinopathy, Lattice retinal degeneration, Degenerative vitreoretinopat... ORPHA:485
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Norrie Disease
Abnormal chorioretinal morphology, Optic atrophy, Hypertonia, Abnormal vitreous humor morphology,... ORPHA:649
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Cerebral atrophy, Hypertonia, Hyperkinetic movements, Hypospadias, Ragged-red muscle fibers, Abno... ORPHA:17
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Flexion contracture of toe, Joint contract... OMIM:602782
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum, Cryptorchidism, Micropenis, Periventricu... OMIM:618929
Right Atrial Isomerism
Abdominal situs ambiguus, Polysplenia, Asplenia OMIM:208530
Primary Ciliary Dyskinesia
Polysplenia, Asplenia ORPHA:244
Choreoacanthocytosis
Chorea, Abnormal autonomic nervous system physiology, Head titubation, Lateral ventricle dilatati... ORPHA:2388
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Tremor, Facial palsy, Clonus OMIM:619424
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Involuntary movements, Rigidity, Dystonia, Parkinsonism, Eyelid apraxia OMIM:615530
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Spastic paraparesis, Ataxia ORPHA:369891
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Tremor, Opisthotonus OMIM:250800
Contractures-Developmental Delay-Pierre Robin Syndrome
Chiari type I malformation, Microtia, Lop ear, Abnormal hippocampus morphology, Overfolded helix ORPHA:436003
Say-Barber-Miller Syndrome
Optic atrophy, Babinski sign, Knee flexion contracture, Macular degeneration, Elbow flexion contr... ORPHA:3132
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Cholelithiasis, Asplenia OMIM:240300
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor ORPHA:99965
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Retinopathy, Dia... ORPHA:125
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... OMIM:618056
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor function, Spasticity, ... OMIM:614298
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Upper motor neuron dysfunction, Gait disturbance, Hemiparesis, Ataxia, Spa... ORPHA:395
Bohring-Opitz Syndrome
Optic atrophy, Annular pancreas, Inability to walk, Cholelithiasis, Facial hypotonia, Dandy-Walke... ORPHA:97297
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Cholelithiasis OMIM:232800
Scheie Syndrome
Spastic paraparesis, Cerebral palsy ORPHA:93474
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Delayed puberty, Hypertonia, Oculomotor apraxia, Azoospermia, Broad-based gait, Chol... ORPHA:2072
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Type II diabetes mellitus, Azoospermia OMIM:210900
Trisomy 10P
Low voltage EEG, Dandy-Walker malformation, EEG with focal spikes, Abnormal auditory evoked poten... ORPHA:171929
Cockayne Syndrome B
Cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Cerebellar calcifications, ... OMIM:133540
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Young-Onset Parkinson Disease
Bradykinesia, Spasticity, Tremor, Male sexual dysfunction, Rigidity, Dystonia, Female sexual dysf... ORPHA:2828
Holoprosencephaly 7
Agenesis of corpus callosum, Panhypopituitarism, Partial agenesis of the corpus callosum, Fusion ... OMIM:610828
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Tremor, Impotence, Rigidity, Ataxia, Parkinsonism OMIM:146500
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Oligozoospermia, Clitoral hypoplasia OMIM:614813
Duplication Of The Pituitary Gland
Congenital stationary night blindness, Lower limb spasticity, Abnormal pituitary gland morphology... ORPHA:314621
Amoebiasis Due To Free-Living Amoebae
Facial palsy, Abnormal medulla oblongata morphology, Abnormal cerebellum morphology, Abnormal hyp... ORPHA:68
Atypical Werner Syndrome
Delayed puberty, Neoplasm of the thyroid gland, Premature ovarian insufficiency, Hyperinsulinemia... ORPHA:79474
Fanconi Anemia
Aganglionic megacolon, Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertili... ORPHA:84
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, T lymphocytopenia, Thromboc... OMIM:251260
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Oculomotor apraxia, Chorea, Tremor, Head tremor, Gait ataxia, Dystonia, Progressive ... OMIM:606002
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Mucopolysaccharidosis Type 2
Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi... ORPHA:580
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Spastic paraparesis, Broad-based gait ORPHA:391408
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Lipodystrophy, Congenital Generalized, Type 4
Muscular dystrophy, Hyperinsulinemia, Skeletal muscle hypertrophy, Increased variability in muscl... OMIM:613327
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Mitochondrial swelling OMIM:615595
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Sp... OMIM:181000
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism ORPHA:1578
Lethal Congenital Contracture Syndrome 9
Abnormality of the diaphragm, Wrist flexion contracture, Congenital contracture, Arthrogryposis m... OMIM:616503
Argininemia
Spastic gait, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls OMIM:207800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia ORPHA:99776
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve... ORPHA:83617
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... OMIM:612716
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Feingold Syndrome 1
Annular pancreas, Accessory spleen, Vocal cord paralysis, Asplenia, Polysplenia OMIM:164280
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Carney Complex
Testicular neoplasm, Decreased fertility in males, Ovarian dermoid cyst, Oligozoospermia, Pituita... ORPHA:1359
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Macroglossia, Hypoplasia of the thymus, Torticollis OMIM:617022
Epidermal Nevus Syndrome
Babinski sign, Hypertonia, Progressive spastic paraparesis ORPHA:35125
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Pitt-Hopkins Syndrome
Incoordination, Gait ataxia, Hypoplastic hippocampus, Thickened helices, Cupped ear OMIM:610954
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Azoospe... ORPHA:534
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Tetrasomy 9P
Abnormal chorioretinal morphology, Dandy-Walker malformation, Polymicrogyria, Infertility, Oligoz... ORPHA:3310
Williams Syndrome
Gait imbalance, Hypoplasia of penis, Abnormality of extrapyramidal motor function, Spasticity, Tr... ORPHA:904
Mend Syndrome
Low-set ears, Dandy-Walker malformation, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
Glycogen Storage Disease Xii
Muscle fiber splitting, Delayed puberty, Cholelithiasis, Increased variability in muscle fiber di... OMIM:611881
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Retinal atrophy, Cranial nerve compression, Abnormal retinal morphology, Tetraparesis ORPHA:2785
Eales Disease
Spastic paraparesis ORPHA:40923
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Recurrent otitis media, Cerebellar vermis hypoplasia, Underdeveloped tragus, Low-set ears, Anteve... OMIM:620654
Meckel Syndrome
Accessory spleen, Asplenia, Congenital hepatic fibrosis, Cystic liver disease, Pancreatic fibrosi... ORPHA:564
Immunodeficiency 58
Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr... OMIM:618131
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Macular degeneration, Attenuation of retinal blood vessels, Ataxia, Rod-cone d... OMIM:266920
Adrenomyeloneuropathy
Spastic gait, Babinski sign, Distal sensory impairment, Spasticity, Dysesthesia, Progressive spas... ORPHA:139399
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology... ORPHA:228123
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Cerebral cortical atrophy, Atretic vas deferens, Reduced sperm mo... OMIM:137920
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Abdominal situs inversus OMIM:306955
Biotinidase Deficiency
Spastic paraparesis, Ataxia ORPHA:79241
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Spastic paraparesis OMIM:619234
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Oculodentodigital Dysplasia
Spastic paraparesis, Spasticity, Ataxia, Gait disturbance ORPHA:2710
Aicardi-Goutières Syndrome
Hypertonia, Difficulty walking, Abnormality of extrapyramidal motor function, Extrapyramidal musc... ORPHA:51
Meckel Syndrome, Type 1
Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Malformation of the hepatic du... OMIM:249000
Apert Syndrome
Chronic otitis media, Chiari type I malformation, Hearing impairment, Agenesis of corpus callosum... OMIM:101200
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs ambiguus, Abdominal situs inversus, Asplenia OMIM:270100
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Hurler Syndrome
Abnormal pyramidal sign, Spastic paraparesis, Cerebral palsy ORPHA:93473
Digeorge Syndrome
Anemia, Cholelithiasis, Hypoplasia of the thymus, Impaired T cell function, Hemiparesis, Thromboc... OMIM:188400
22Q11.2 Deletion Syndrome
Cholelithiasis, Abnormality of the tonsils, Hypoplasia of the thymus, Impaired T cell function, T... ORPHA:567
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Pulmonary lymphangiectasia, Asplenia OMIM:265380
Stickler Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Lattice retinal degeneration, Hemiplegia/... ORPHA:828
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Weakness of facial musculature, Macular atrophy, Agenesis of corpus callosum, Primary amenorrhea OMIM:619418
Cystinosis, Nephropathic
Cerebral atrophy, Male infertility, Retinopathy, Male hypogonadism, Retinal pigment epithelial mo... OMIM:219800
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Incoordination, Ataxia, Retinal pigment ep... ORPHA:64
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Enlarged cerebellum, Aganglionic megacolon, Recurrent otitis media, Chiari type I malformation, I... ORPHA:261537
Mowat-Wilson Syndrome
Enlarged cerebellum, Aganglionic megacolon, Recurrent otitis media, EEG with spike-wave complexes... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Enlarged cerebellum, Optic atrophy, Aganglionic megacolon, Recurrent otitis media, Chiari type I ... ORPHA:261552
Mowat-Wilson Syndrome
Aganglionic megacolon, Recurrent otitis media, Uplifted earlobe, Abnormal enteric ganglion morpho... OMIM:235730
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
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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