Gene: Agtpbp1 MGI:2159437

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.

Human diseases associated with Agtpbp1 (2 diseases)
Human diseases predicted to be associated with Agtpbp1 (1408 diseases)

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		Tongue fasciculations, Spasticity, Global brain atrophy, Cerebellar atrophy, Hypoplasia of the po...	OMIM:618276
Pontocerebellar Hypoplasia Type 1		Optic atrophy, Tongue fasciculations, Spasticity, Cerebral cortical atrophy, Hypoplasia of the po...	ORPHA:2254

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

Disease	Matching phenotypes	Source
Spastic Paraplegia 34, X-Linked	Spastic paraplegia, Impaired vibratory sensation, Paraplegia, Babinski sign, Clonus, Spastic gait	OMIM:300750
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Spastic Paraplegia 72B, Autosomal Recessive	Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait	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, Clonus, Tip-toe gait	OMIM:607584
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spastic Paraplegia 61, Autosomal Recessive	Inability to walk, Spastic paraplegia, Spasticity, Scissor gait	OMIM:615685
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Ataxia-Oculomotor Apraxia Type 1	Gait disturbance, Ataxia	ORPHA:1168
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Posterior Column Ataxia	Impaired vibratory sensation, Impaired proprioception, Ataxia	OMIM:176250
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spinocerebellar Ataxia 41	Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait	OMIM:616410
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Episodic Ataxia Type 5	Truncal ataxia, Ataxia	ORPHA:211067
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi...	OMIM:614322
Cerebellar Ataxia, Benign, With Thermoanalgesia	Impaired temperature sensation, Progressive cerebellar ataxia	OMIM:212890
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Hypogonadotropic hypogonadism, Ataxia	ORPHA:1180
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe...	OMIM:615268
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration	Hepatosplenomegaly, Ataxia	OMIM:242520
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Abasia, Ataxia	OMIM:209100
Spinocerebellar Ataxia 32	Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility	OMIM:613909
Spastic Paraplegia 72A, Autosomal Dominant	Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho...	OMIM:615625
Spinocerebellar Ataxia Type 30	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia	ORPHA:211017
Spastic Ataxia With Congenital Miosis	Spastic ataxia, Hemiplegia/hemiparesis, Ataxia	ORPHA:1182
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Neuhauser-Eichner-Opitz Syndrome	Spasticity, Rigidity, Hypertonia, Ataxia	ORPHA:2672
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia	ORPHA:276183
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Spinocerebellar Ataxia 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ...	OMIM:616053
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop...	ORPHA:98765
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617769
Spastic Paraplegia-Glaucoma-Intellectual Disability Syndrome	Paraplegia, Spasticity	ORPHA:2818
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Cerebral Palsy, Ataxic, Autosomal Recessive	Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy	OMIM:605388
Stargardt Disease 1	Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy	OMIM:248200
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Ceroid Lipofuscinosis, Neuronal, 5	Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My...	OMIM:256731
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
X-Linked Complicated Spastic Paraplegia Type 1	Upper motor neuron dysfunction, Spastic paraplegia, Ataxia	ORPHA:306617
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Reticular pigmentary degeneration, Drusen, Retinal dystrophy	OMIM:267800
Spinocerebellar Ataxia Type 40	Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait,...	ORPHA:423275
Autosomal Recessive Spastic Paraplegia Type 24	Spastic paraplegia, Spasticity, Tip-toe gait, Scissor gait, Clonus	ORPHA:101004
Spinocerebellar Ataxia Type 23	Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista...	ORPHA:101108
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Ceroid Lipofuscinosis, Neuronal, 2	Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myoclonus, Retinal degeneration...	OMIM:204500
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Myelopathy, Htlv-1-Associated	Spastic paraparesis, Abnormal pyramidal sign	OMIM:159580
Spastic Paraplegia 27, Autosomal Recessive	Spastic paraplegia, Lower limb spasticity, Impaired vibration sensation at ankles, Babinski sign	OMIM:609041
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Retinitis Pigmentosa 36	Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti...	OMIM:610599
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Spinocerebellar Ataxia, Autosomal Recessive 25	Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia	OMIM:617584
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia	ORPHA:2274
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Cone-Rod Dystrophy 7	Bull's eye maculopathy, Macular atrophy, Retinal flecks, Cone/cone-rod dystrophy	OMIM:603649
Cerebellar Ataxia And Neurosensory Deafness	Ataxia	OMIM:212850
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a...	ORPHA:94122
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber...	OMIM:616515
Macular Dystrophy, Patterned, 3	Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy	OMIM:617111
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Hydrocephaly-Cerebellar Agenesis Syndrome	Cerebellar agenesis, Ataxia	ORPHA:1397
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Retinal dysplasia	OMIM:615041
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spastic Paraparesis-Deafness Syndrome	Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia	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, Gait disturbance, Choreoathetosis, Ataxia	ORPHA:67047
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Retinoschisis 1, X-Linked, Juvenile	Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,...	OMIM:312700
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility	ORPHA:98797
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Autosomal Spastic Paraplegia Type 30	Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ...	ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Spasticity, Spastic paraparesis, Difficulty walking, Babinski sign,...	ORPHA:320370
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat...	ORPHA:726
Mitochondrial Complex Iv Deficiency, Nuclear Type 17	Spastic tetraparesis, Ataxia	OMIM:619061
Spinocerebellar Ataxia, Autosomal Recessive 24	Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy	OMIM:617133
Macular Dystrophy, Retinal, 1, North Carolina Type	Abnormality of macular pigmentation, Drusen, Macular dystrophy, Peripheral retinal atrophy	OMIM:136550
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Inability to walk, Cerebellar atrophy, Ataxia	OMIM:619333
Macular Dystrophy, Retinal, 2	Granular macular appearance, Perifoveal ring of hyperautofluorescence, Macular dystrophy, Retinal...	OMIM:608051
Autosomal Recessive Spastic Paraplegia Type 27	Spastic paraplegia, Abnormality of somatosensory evoked potentials, Sensorineural hearing impairm...	ORPHA:101007
Kennedy Disease	Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Gait disturbance, Testic...	ORPHA:481
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity	OMIM:619491
Developmental And Epileptic Encephalopathy 60	Global brain atrophy, Hippocampal malrotation, EEG with burst suppression, Inability to walk, Hyp...	OMIM:617929
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Late-Onset Retinal Degeneration	Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-...	OMIM:605670
Stargardt Disease 3	Macular atrophy, Macular dystrophy, Macular flecks	OMIM:600110
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Leber Congenital Amaurosis 19	Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration	OMIM:618513
Exudative Vitreoretinopathy 7	Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold	OMIM:617572
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Ataxia, Unsteady gait, Frequent falls	OMIM:615945
Spinocerebellar Ataxia 31	Cerebellar atrophy, Limb ataxia, Gait ataxia, Ataxia	OMIM:117210
Episodic Ataxia, Type 8	Ataxia, Slurred speech, Intention tremor, Episodic ataxia	OMIM:616055
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Spastic Ataxia 4, Autosomal Recessive	Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax...	OMIM:613672
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Cerebral atrophy, Abnormal cerebellum morphology, Myoclonus,...	OMIM:204200
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy	OMIM:609923
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Cerebellar dentate nucleus calcification, Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sig...	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	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Macular degeneration, Spasticity, Chorea, Dysmetria, Tremo...	OMIM:164500
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Rod-cone dystroph...	ORPHA:1178
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency	Limb ataxia, Gait ataxia	ORPHA:284282
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Sorsby Pseudoinflammatory Fundus Dystrophy	Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H...	ORPHA:59181
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Cerebellar atrophy, Retinal dystrophy, Ataxia	OMIM:614706
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Tremor Of Intention, Ataxia, And Lipofuscinosis	Intention tremor, Ataxia	OMIM:190200
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Impaired distal proprioception	ORPHA:231445
Night Blindness, Congenital Stationary, Type 1D	Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne...	OMIM:613830
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration, Distal sensory impairment	OMIM:619764
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Decreased fertility, Limb muscle weakness, Tremor, Calf muscle hypertrophy, 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	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Cone-Rod Dystrophy 22	Hypoautofluorescent retinal lesion, Hyperautofluorescent macular lesion, Attenuation of retinal b...	OMIM:619531
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Difficulty walking, Cerebellar vermis atrophy, Limb ataxia, Truncal ataxia, Brain atrophy	ORPHA:363432
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Retinal Cone Dystrophy 1	Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:180020
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Limb ataxia, Rigidity, Babinski sign, Parkinsonism, Hypertonia, Cerebellar calcifications, Bradyk...	OMIM:618824
Leukoencephalopathy With Dystonia And Motor Neuropathy	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Head tremor, Azoospermia...	OMIM:613724
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Retinopathy, Pericentral Pigmentary, Dominant	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ...	OMIM:180210
Olivopontocerebellar Atrophy-Deafness Syndrome	Optic atrophy, Cerebral cortical atrophy, Chorioretinal coloboma, Olivopontocerebellar atrophy, H...	ORPHA:2732
X-Linked Spinocerebellar Ataxia Type 4	Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	ORPHA:85292
Autosomal Recessive Spastic Paraplegia Type 46	Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Reduced sperm ...	ORPHA:320391
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed...	ORPHA:52901
Spinocerebellar Ataxia 11	Cerebellar atrophy, Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebel...	OMIM:604432
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at...	OMIM:616948
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm...	OMIM:617514
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Ataxia	OMIM:136600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Ataxia, Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired dista...	OMIM:619742
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Myoclonus, ...	OMIM:600143
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Spinocerebellar Ataxia 35	Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o...	OMIM:613908
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr...	ORPHA:276193
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Myoclonus, Cerebellar Ataxia, And Deafness	Myoclonus, Ataxia	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	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Babinski si...	ORPHA:254343
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl...	OMIM:271150
Retinitis Pigmentosa 32	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor...	OMIM:609913
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Ataxia	ORPHA:85334
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, R...	OMIM:610951
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu...	OMIM:618876
Cach Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Go...	ORPHA:135
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Hypogonadism, Male	Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis	OMIM:241100
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Spasticity, Broad-based gait, Cerebellar atrophy, Difficulty walking, Cerebellar vermis atrophy, ...	ORPHA:284332
Oculorenocerebellar Syndrome	Spastic diplegia, Choreoathetosis, Retinal degeneration	OMIM:257970
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Cone-Rod Dystrophy 11	Macular degeneration, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Rod-cone dystrophy, Ataxia	OMIM:158500
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Retinal pigment epithelial mottling, Inability to walk, Cerebellar vermis atr...	OMIM:619389
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential...	ORPHA:320401
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly...	OMIM:157640
Autosomal Recessive Spastic Paraplegia Type 71	Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait	ORPHA:401840
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Spasticity, Macular degeneration, Cerebral atrophy, Increased neuronal autofluores...	OMIM:256730
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Cerebellar hypoplasia, Optic atrophy, 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	Hand tremor, Postural tremor, Chorea, Parkinsonism, Cerebellar calcifications, Athetosis, Thalami...	OMIM:615483
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Falls, Necrotizing myopathy, Ske...	ORPHA:178464
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait	OMIM:617917
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis, Steppage gait, Distal sensory impairment	OMIM:302802
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:610359
Bothnia Retinal Dystrophy	Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Abnormal choro...	ORPHA:85128
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Poretti-Boltshauser Syndrome	Cerebellar vermis hypoplasia, Retinal thinning, Cerebellar dysplasia, Dilated fourth ventricle, R...	OMIM:615960
Impaired Intellectual Development 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	Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata...	ORPHA:95434
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Hemiplegia/hemiparesis, Spastic ataxia, Gait disturbance, Aplasia/Hypoplasia of th...	ORPHA:2572
Ataxia, Deafness, And Cardiomyopathy	Ataxia	OMIM:208750
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Apraxia, Ataxia	ORPHA:85338
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo...	ORPHA:363710
Spastic Paraplegia 48, Autosomal Recessive	Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,...	OMIM:613647
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Cerebral cortical atrophy, Macular degeneration, Skeletal muscle atrophy, Tip...	OMIM:604360
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Mast Syndrome	Spastic paraplegia, Spastic paraparesis, Incoordination, Babinski sign, Apraxia, Gait disturbance...	OMIM:248900
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Retinal at...	ORPHA:370022
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe...	OMIM:615957
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Leber Congenital Amaurosis With Early-Onset Deafness	Peripapillary atrophy, Retinal pigment epithelial mottling, Retinal degeneration	OMIM:617879
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Amenorrhea, Ata...	OMIM:619425
Central Areolar Choroidal Dystrophy	Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyperautofluorescent macular...	ORPHA:75377
Deleted in azoospermia	Azoospermia	OMIM:400003
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Tremor, Hereditary Essential, 6	Kinetic tremor, Postural tremor, Head tremor, Vocal tremor	OMIM:618866
Camos Syndrome	Optic atrophy, Spasticity, Aplasia/Hypoplasia of the cerebellum, Ataxia, Progressive extrapyramid...	ORPHA:83472
Wagner Vitreoretinopathy	Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin...	OMIM:143200
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Truncal ataxia, Optic atrophy, Cerebellar atrophy, Cerebral atrophy	OMIM:611726
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Distal sensory impairment, Rigidity, Tremor,...	OMIM:606693
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F...	OMIM:618848
Macular Degeneration, Age-Related, 1	Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ...	OMIM:603075
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity	ORPHA:228169
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal...	OMIM:620402
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Nescav Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Cerebellar ve...	OMIM:614255
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Epilepsy, Familial Adult Myoclonic, 1	EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s...	OMIM:601068
Nephronophthisis 14	Cerebellar vermis hypoplasia, Retinal degeneration	OMIM:614844
Intellectual Developmental Disorder, Autosomal Recessive 6	Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor	OMIM:611092
Alexander Disease Type I	Spasticity, Cerebellar atrophy, Abnormal pyramidal sign, Ataxia, Abnormal thalamic MRI signal int...	ORPHA:363717
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Retinitis Pigmentosa 81	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:617871
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal thalamus morphology, Dysgyria, Ocu...	ORPHA:467166
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility	OMIM:620103
Autosomal Recessive Spastic Paraplegia Type 25	Spastic paraplegia, Paraparesis	ORPHA:101005
Retinitis Pigmentosa 11	Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,...	OMIM:600138
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Retinitis Pigmentosa 68	Retinal atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615725
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Progressive Myoclonic Epilepsy Type 1	Limb ataxia, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor	ORPHA:308
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory impairment, Dysmetr...	OMIM:302800
Nephronophthisis 15	Cerebellar vermis hypoplasia, Retinal degeneration	OMIM:614845
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Gordon Holmes Syndrome	Cerebellar atrophy, Cerebral atrophy, Chorea, Primary amenorrhea, Hypogonadotropic hypogonadism, ...	OMIM:212840
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor	OMIM:608029
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Spasticity	OMIM:607624
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Cerebral atrophy, Inability to walk, Gait ataxia, T2 hypointense thalamus, Cl...	ORPHA:1947
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypop...	OMIM:615768
Cone-Rod Dystrophy 5	Macular degeneration, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:600977
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Retinitis Pigmentosa 13	Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat...	OMIM:600059
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Distal amyotrophy, Decreased response to growth hormone stimulation test,...	OMIM:275400
Cerebellar Ataxia, Cayman Type	Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Abnormal retinal morpho...	OMIM:601238
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Macular degeneration, Cerebellar atrophy, Fasciculations, Limb ata...	ORPHA:284289
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Myoclonus, Interictal epileptiform activity, Hippocampal sclerosis, Tremor	OMIM:615400
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, U...	ORPHA:314978
Familial Drusen	Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi...	ORPHA:75376
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi...	OMIM:609161
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Subretinal deposits, Macular degeneration, Choriocapillaris atrophy	OMIM:601553
Polymyoclonus, Infantile	Myoclonus, Ataxia	OMIM:263550
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Spinocerebellar Ataxia 4	Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel...	OMIM:600223
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo...	ORPHA:98762
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Incoordination, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Truncal at...	OMIM:616204
Retinitis Pigmentosa 4	Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spicule pigme...	OMIM:613731
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Hypogonadism, Cryptorchidism, Retinal degeneration, Ataxia, Micropenis	ORPHA:3363
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Ataxia, Sensory, 1, Autosomal Dominant	Sensory ataxia, Decreased amplitude of sensory action potentials, Abnormal cerebellum morphology,...	OMIM:608984
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	ORPHA:609
Epilepsy, Progressive Myoclonic 7	EEG with generalized epileptiform discharges, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616187
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Cerebellar hypoplasia, Cerebral cortical atrophy, Decreased thalamic volume, Simplified gyral pat...	OMIM:619072
Ravine Syndrome	Spasticity, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, At...	ORPHA:99852
Spastic Paraplegia 15, Autosomal Recessive	Spastic paraplegia, Macular degeneration, Paraplegia, Abnormal cerebellum morphology, Retinal deg...	OMIM:270700
Autosomal Dominant Spastic Paraplegia Type 73	Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib...	ORPHA:444099
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im...	OMIM:601382
Retinitis Pigmentosa 38	Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy	OMIM:613862
Urocanase Deficiency	Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia	OMIM:276880
Ceroid Lipofuscinosis, Neuronal, 10	Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment,...	OMIM:610127
Macular Degeneration, Age-Related, 3	Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Distal s...	OMIM:608895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus...	OMIM:601954
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:619733
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress...	ORPHA:101112
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Spasticity, Decreased thalamic volume, Diffuse cerebral atrophy, Clonus, Hypertonia	OMIM:613668
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet...	ORPHA:506353
Diaminopentanuria	Neurodegeneration, Spasticity, Ataxia	OMIM:222350
Dentatorubral-Pallidoluysian Atrophy	Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Choreoathetosis	OMIM:125370
Retinitis Pigmentosa 90	Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret...	OMIM:619007
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ...	ORPHA:277
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c...	OMIM:614493
Frontotemporal Dementia With Motor Neuron Disease	Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function, Babinski sign, Parkin...	ORPHA:275872
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Dysmetria, Unsteady gait, Intent...	OMIM:615386
Spastic Paraplegia 30, Autosomal Dominant	Spastic paraplegia, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasticity, Ataxia, Spasti...	OMIM:610357
Episodic Kinesigenic Dyskinesia 2	Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea	OMIM:611031
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Retinitis Pigmentosa 73	Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret...	OMIM:616544
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation, Ataxia	ORPHA:2579
Boucher-Neuhauser Syndrome	Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Chorioretina...	OMIM:215470
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Decreased thalamic volume, Spastic tetraplegia	OMIM:618646
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Gait ataxia, Ataxia	OMIM:615705
Mucolipidosis Iv	Optic atrophy, Cerebellar atrophy, Retinal degeneration, Babinski sign, Spastic tetraplegia	OMIM:252650
Cone-Rod Dystrophy 13	Macular degeneration, Cone/cone-rod dystrophy	OMIM:608194
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Ophthalmoplegia, External, And Myopia	Chorioretinal degeneration, Retinal degeneration	OMIM:311000
Epilepsy, Progressive Myoclonic, 8	Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, EEG with photoparoxysmal res...	OMIM:616230
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri...	OMIM:607688
Kallmann Syndrome With Spastic Paraplegia	Spastic paraplegia, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypog...	OMIM:308750
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Cryptorchidism, Retinal degeneration, Rod-cone dystrophy	OMIM:615982
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, So...	OMIM:616924
Cone-Rod Dystrophy 24	Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Cone/cone-rod...	OMIM:620342
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Tetraparesis, Apraxia, Parkinsonism, Paraparesis, Extrapyramidal dyskinesia	OMIM:105550
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Epilepsy, Familial Adult Myoclonic, 3	Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl...	OMIM:613608
Spinocerebellar Ataxia 44	Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis	OMIM:617691
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait	ORPHA:284271
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:615424
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Spasticity, Cerebral cortical atrophy, Abnormal optic nerve morphology, Tremor, Ri...	ORPHA:33445
Macular Dystrophy, Vitelliform, 3	Vitelliform-like macular lesions, Choroidal neovascularization, Macular dystrophy, Drusen, Macula...	OMIM:608161
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ...	ORPHA:276435
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Retinal Dystrophy And Obesity	Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detachment, Re...	OMIM:616188
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Cerebral cortical atrophy, Myoclonus, T2 hypointense thalamus, Babinski sign, Apraxia, Gait distu...	OMIM:618193
Morm Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:75858
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Cerebral atrophy, Agenesis of corpus callosum, Hypoplastic hippoca...	ORPHA:85179
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Neuropathy, Ataxia, And Retinitis Pigmentosa	Ataxia, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy, Corticospinal tract...	OMIM:551500
Retinitis Pigmentosa 88	Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p...	OMIM:618826
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Pontocerebellar Hypoplasia, Type 1E	Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia	OMIM:619303
Retinitis Pigmentosa 19	Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,...	OMIM:601718
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Decreased muscle mass, Hypogonadism, Decreased te...	OMIM:229070
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy, Rod-cone dystrophy, Reduced sperm m...	OMIM:602271
Ataxia-Pancytopenia Syndrome	Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology...	ORPHA:2585
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypoplasia of the pons, Difficulty walking, Speech apraxia, Head tremor, Unsteady gait, Parietal ...	ORPHA:412057
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Spasticity, Difficulty walking, Impaired tactile sensation, Abnormal pyramidal sign, Ataxia, Unst...	ORPHA:98
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria	OMIM:617770
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Increased variability in muscle fiber diameter, Spasticity, Proximal muscle weakness in lower lim...	OMIM:613954
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Optic atrophy, Involuntary movements, Increased varia...	ORPHA:401768
Stargardt Disease	Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R...	ORPHA:827
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Cerebral atrophy, Tremor, Hypothyroidism, Ataxia, Testicul...	OMIM:222300
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga...	OMIM:607483
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia	OMIM:183050
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Hsd10 Mitochondrial Disease	Optic atrophy, Spasticity, Cerebral cortical atrophy, Retinal degeneration, Spastic tetraplegia, ...	OMIM:300438
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Focal T2 hyperintense thalamic lesion, Gait ataxia, Myoclonus, Dysmetria, Tremor, ...	ORPHA:254881
Bardet-Biedl Syndrome 16	Hypogonadism, Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Unsteady gait, Retinal degeneration	OMIM:520000
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Pigmentary retinopathy, Distal a...	OMIM:619473
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:617760
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ...	ORPHA:284324
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dys...	OMIM:616127
X-Linked Retinal Dysplasia	Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1852
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Myoclonus, Rigidity	OMIM:619057
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Fusion of the left and right thalami, Hemiparesis, Agenesis of corpus cal...	OMIM:617542
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia	OMIM:614229
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Ankle flexion contracture, Limb-girdle muscular d...	OMIM:608099
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Neurodegeneration, Bab...	OMIM:615889
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...

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