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Gene: Pla2g6 MGI:1859152

Gene Summary

Name:

phospholipase A2, group VI

Synonyms:

iPLA2, iPLA2beta

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
male infertility		Pla2g6^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	0.00

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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.

X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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DSS Histology

Images

6 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Pla2g6^{tm1a(EUCOMM)Wtsi}
WT, Female, WTSI

View all 80 images

Pla2g6^{tm1a(EUCOMM)Wtsi}
head, abnormal snout morphology, upturned snout, HOM, Female, WTSI

Pla2g6^{tm1a(EUCOMM)Wtsi}
abnormal snout morphology, asymmetric snout, head, HOM, Female, WTSI

Pla2g6^{tm1a(EUCOMM)Wtsi}
head, abnormal snout morphology, asymmetric snout, HOM, Female, WTSI

Pla2g6^{tm1a(EUCOMM)Wtsi}
head, abnormal snout morphology, upturned snout, asymmetric snout, HOM, Male, WTSI

View all 6 images

Pla2g6^{tm1a(EUCOMM)Wtsi}
abnormal retinal blood vessel pattern, HOM, Female, WTSI

Human diseases caused by Pla2g6 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 Pla2g6 (5 diseases)
Human diseases predicted to be associated with Pla2g6 (2183 diseases)

The table below shows human diseases associated to Pla2g6 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Cerebral atrophy, Gait ataxia...	OMIM:610217
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab...	OMIM:256600
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ...	OMIM:612953
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Unsteady gait, Op...	ORPHA:35069

The table below shows human diseases predicted to be associated to Pla2g6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
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 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
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
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Nondisjunction	Decreased fertility	OMIM:158250
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy	Distal lower limb amyotrophy, Somatic sensory dysfunction, Quadriceps muscle atrophy, Triceps wea...	ORPHA:482601
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Impaired distal vibrat...	OMIM:614436
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Peroneal muscle atrophy, Hand muscle weakness, Axonal degeneration, Axonal l...	ORPHA:98856
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Striatal Degeneration, Autosomal Dominant 1	Symmetric lesions of the basal ganglia, Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesi...	OMIM:609161
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen...	DECIPHER:29
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di...	OMIM:600116
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ...	OMIM:604484
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with...	OMIM:607060
Nystagmus 2, Congenital, Autosomal Dominant	Mildly reduced visual acuity, Reduced visual acuity, Visual impairment	OMIM:164100
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
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:214400
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Leber Congenital Amaurosis 11	Reduced visual acuity, Visual impairment	OMIM:613837
Retinitis Pigmentosa 35	Blindness, Reduced visual acuity, Nyctalopia	OMIM:610282
Miyoshi Myopathy	Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric...	ORPHA:45448
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa...	OMIM:300423
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner...	OMIM:302800
Waisman Syndrome	Resting tremor, Parkinsonism, Megalencephaly, Rigidity, Cogwheel rigidity, Bradykinesia, Shufflin...	OMIM:311510
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal...	ORPHA:98762
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Cerebral cort...	ORPHA:306692
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Scoliosis	OMIM:616155
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Leukoencephalopathy...	OMIM:221820
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Impaired prop...	ORPHA:95434
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Corneal Dystrophy, Avellino Type	Reduced visual acuity, Visual impairment	OMIM:607541
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Optic atrophy,...	ORPHA:99013
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Decreased testicular size, Decreased motor nerve conduction veloc...	OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2U	Hand muscle atrophy, Peripheral axonal neuropathy, Hand muscle weakness, Distal sensory impairmen...	OMIM:616280
Optic Atrophy 9	Red-green dyschromatopsia, Paracentral scotoma, Reduced visual acuity, Visual impairment	OMIM:616289
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Neuronal ...	OMIM:168600
Macular Dystrophy, Vitelliform, 5	Central scotoma, Reduced visual acuity, Moderately reduced visual acuity	OMIM:616152
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ...	ORPHA:90103
Cataract 7	Visual loss, Mildly reduced visual acuity	OMIM:115660
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ...	OMIM:208920
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady...	ORPHA:101010
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Cerebral calcification, Ataxia, Isometric tremor, Upper limb postural tremor,...	ORPHA:101110
Spastic Paraplegia 38, Autosomal Dominant	Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Babinski sign, Spastic para...	OMIM:612335
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Shuffling gait, Gait imbalance, D...	ORPHA:75567
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration, Mental deterioration	OMIM:610951
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Lewy bodies	OMIM:614251
Autosomal Dominant Spastic Paraplegia Type 3	Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle...	ORPHA:100984
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Cerebral atrophy, Gait ataxia...	OMIM:610217
Parkinson Disease 21	Parkinsonism, Rigidity, Tremor, Bradykinesia, Lewy bodies	OMIM:616361
Newfoundland Rod-Cone Dystrophy	Nyctalopia, Scotoma, Visual impairment, Color vision defect	OMIM:607476
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Bradykin...	ORPHA:521406
Huntington Disease-Like 2	Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Dystonia, Cerebral cor...	ORPHA:98934
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1	Babinski sign, Upper limb muscle weakness, Distal amyotrophy, Hypertonia, Chronic axonal neuropat...	OMIM:182960
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, D...	OMIM:618276
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Babinsk...	OMIM:614298
Caribbean Parkinsonism	Weakness due to upper motor neuron dysfunction, Parkinsonism, T2 hypointense basal ganglia, Rigid...	ORPHA:97355
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Axonal degeneration, Impai...	ORPHA:88628
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Bab...	OMIM:619063
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Basal ganglia calcification, Chorea, Hypoesthesia, Abnormal pyramidal sign,...	OMIM:618317
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy,...	OMIM:617018
Diaminopentanuria	Neurodegeneration, Ataxia	OMIM:222350
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig...	OMIM:616840
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Rigidity, C...	OMIM:607136
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus...	OMIM:168601
Parkinsonian-Pyramidal Syndrome	Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradyki...	ORPHA:171695
Spastic Paraplegia 43, Autosomal Recessive	Ankle flexion contracture, Babinski sign, Spastic paraplegia, Optic atrophy, Distal sensory impai...	OMIM:615043
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Mitochondrial Dna Depletion Syndrome 18	Clonus, Axonal degeneration, Falls, Tongue fasciculations, Scoliosis, Failure to thrive	OMIM:618811
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Flexion con...	OMIM:611105
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Nystagmus 1, Congenital, X-Linked	Mildly reduced visual acuity, Reduced visual acuity	OMIM:310700
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma...	ORPHA:314632
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste...	ORPHA:497764
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Neuronopathy, Distal Hereditary Motor, X-Linked	Spinal muscular atrophy, Unsteady gait, Distal sensory impairment, Abnormal peripheral nervous sy...	OMIM:300489
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Impaired distal vibration sensation...	OMIM:128230
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba...	OMIM:615157
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Neuronal loss in basal ganglia, Ataxia, Rigidity, Chorea, G...	ORPHA:248111
Retinitis Pigmentosa 78	Reduced visual acuity, Nyctalopia, Photopsia, Visual field defect	OMIM:617433
Charcot-Marie-Tooth Disease, Axonal, Type 2Q	Skeletal muscle atrophy, Somatic sensory dysfunction, Impaired distal vibration sensation, Diffic...	OMIM:615025
Senior-Loken Syndrome 6	Reduced visual acuity, Visual impairment	OMIM:610189
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Spastic Paraplegia 73, Autosomal Dominant	Skeletal muscle atrophy, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, ...	OMIM:616282
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Amyotrophic Lateral Sclerosis Type 4	Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Spastic paraplegia, Abnormal...	ORPHA:357043
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par...	OMIM:607641
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Decreased nerve conduction velocity, Kyphosis, Axonal degeneration, Waddling gait	OMIM:618138
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Blindness, Reduced visual acuity	OMIM:601553
Spastic Paraplegia 63, Autosomal Recessive	Skeletal muscle atrophy, Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia, Gai...	OMIM:615686
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous...	OMIM:143100
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ...	ORPHA:100070
Leber Congenital Amaurosis 12	Congenital blindness	OMIM:610612
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Basal ganglia calcification, Chorea, Rigidity, Abnormal pyramidal sign, Bra...	OMIM:213600
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Waddling gait, Somatic sensory dysfunction, Spinal muscular atrophy, Type 2 muscle fiber predomin...	OMIM:158600
Spastic Paraplegia 57, Autosomal Recessive	Hand muscle atrophy, Lower limb spasticity, Somatic sensory dysfunction, Babinski sign, Spastic p...	OMIM:615658
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Delayed Encephalopathy Due To Carbon Monoxide Poisoning	Bradykinesia, Abnormal periventricular white matter morphology, Rigidity	ORPHA:306686
Macular Dystrophy, Vitelliform, 1	Reduced visual acuity, Visual impairment, Visual field defect	OMIM:153840
Retinitis Pigmentosa 29	Blindness	OMIM:612165
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Iron accumula...	ORPHA:329284
Cavitary Optic Disc Anomalies	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:611543
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Claw hand deformity, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:618511
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, H...	OMIM:615643
Chorea, Benign Hereditary	Chorea, Dementia, Gait disturbance	OMIM:118700
Choroideremia	Myopia, Nyctalopia, Abnormality of vision, Progressive visual loss, Visual impairment	ORPHA:180
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Broad-based gait, Ataxia, Corpus callosum atrophy, Abnormal sperm head morpho...	ORPHA:320391
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br...	ORPHA:412066
Spastic Paraplegia 62, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Clonus, Babinski sign, Tip-toe gait, Difficulty w...	OMIM:615681
Leukoencephalopathy With Calcifications And Cysts	Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl...	ORPHA:542310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Peripheral axonal neuropathy, Diaphragmatic paralysis, Axonal degenerati...	OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2D	Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Distal sensory impairment, ...	OMIM:601472
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity	ORPHA:228169
Retinitis Pigmentosa 85	Progressive night blindness, Reduced visual acuity	OMIM:618345
Parkinsonism With Polyneuropathy	Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res...	OMIM:619279
Cone-Rod Dystrophy 12	Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect	OMIM:612657
Prolonged Electroretinal Response Suppression 2	Photophobia, Difficulty adjusting to changes in luminance, Mildly reduced visual acuity, Reduced ...	OMIM:620344
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5	Distal lower limb amyotrophy, Spinal muscular atrophy, Distal sensory impairment, Gait disturbanc...	OMIM:614881
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Focal T2 hyperintense basal ganglia ...	OMIM:619052
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia	ORPHA:210571
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Parkinsonism, Rigidity, Basal ganglia calcification, Babinski sign, Limb ataxia, Bradykinesia, Hy...	OMIM:618824
Stargardt Disease 3	Reduced visual acuity, Visual impairment	OMIM:600110
Spastic Paraplegia 31, Autosomal Dominant	Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Distal sensory...	OMIM:610250
Temporal Arteritis	Blindness	OMIM:187360
Macular Dystrophy, Retinal, 3	Central scotoma, Reduced visual acuity, Color vision defect	OMIM:608850
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel...	OMIM:253400
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,...	ORPHA:320370
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac...	ORPHA:99947
Autosomal Dominant Spastic Paraplegia Type 4	Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Distal amyotrophy, Leg muscle stiffne...	ORPHA:100985
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb...	OMIM:618418
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Cerebral cortical hemiatroph...	ORPHA:306669
Cone Rod Dystrophy	Photophobia, Nyctalopia, Visual impairment, Color vision defect	ORPHA:1872
Autosomal Recessive Spastic Paraplegia Type 76	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ...	ORPHA:488594
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Depression, Dementia, Neurodegeneration	OMIM:615889
X-Linked Neurodegenerative Syndrome, Hamel Type	Blindness	ORPHA:85336
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor	OMIM:610297
Autosomal Recessive Spastic Paraplegia Type 63	Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity	ORPHA:401805
Retinitis Pigmentosa 18	Nyctalopia, Progressive visual field defects, Scotoma	OMIM:601414
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Retinitis Pigmentosa 92	Paracentral scotoma, Nyctalopia, Constriction of peripheral visual field, Visual impairment	OMIM:619614
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Autosomal Recessive Spastic Paraplegia Type 62	Lower limb spasticity, Skeletal muscle atrophy, Clonus, Knee flexion contracture, Tip-toe gait, D...	ORPHA:401785
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:615490
Retinitis Pigmentosa 20	Nyctalopia, Visual impairment, Severely reduced visual acuity	OMIM:613794
Hsd10 Mitochondrial Disease	Optic atrophy, Abnormal mitochondrial morphology, Spastic tetraplegia, Choreoathetosis, Spasticit...	OMIM:300438
Leber Congenital Amaurosis 3	Visual loss, Nyctalopia, Constriction of peripheral visual field	OMIM:604232
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity	OMIM:616079
Spastic Paraplegia 2, X-Linked	Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,...	OMIM:312920
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus...	ORPHA:101097
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Macular Dystrophy, Retinal, 4	Nyctalopia, Reduced visual acuity	OMIM:619977
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia	ORPHA:71517
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd	Steppage gait, Distal amyotrophy, Impaired distal vibration sensation, Foot dorsiflexor weakness	OMIM:618036
Primary Lateral Sclerosis, Juvenile	Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu...	OMIM:606353
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Cone-Rod Dystrophy, X-Linked, 1	Myopia, Nyctalopia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:304020
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Impaired tactile ...	OMIM:619216
Congenital Arthrogryposis With Anterior Horn Cell Disease	Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Paucity of ante...	OMIM:611890
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Chorea, Ataxia	OMIM:618683
Bietti Crystalline Dystrophy	Blindness, Constriction of peripheral visual field, Large central visual field defect, Central sc...	ORPHA:41751
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly...	OMIM:604320
Spastic Paraplegia 77, Autosomal Recessive	Babinski sign, Spastic paraplegia, Lower limb amyotrophy, Upper limb muscle weakness, Lower limb ...	OMIM:617046
Spinocerebellar Ataxia 18	Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis...	OMIM:607458
X-Linked Progressive Cerebellar Ataxia	Unsteady gait, Babinski sign, Dysmetria, Limb ataxia, Spastic dysarthria, Progressive cerebellar ...	ORPHA:1175
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Parkinson Disease 5, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity	OMIM:613643
Parkinsonism-Dystonia 1, Infantile-Onset	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cogwheel rigidity, Bradykinesia,...	OMIM:613135
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai...	OMIM:615528
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Parkinsonism with favorable response to dopamin...	ORPHA:411602
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Huntington Disease-Like 2	Rigidity, Chorea, Bradykinesia, Cerebral cortical atrophy, Action tremor	OMIM:606438
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal lower limb amyotrophy, Claw hand deformity, Paralysis, Decreased number of large periphera...	OMIM:605285
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr...	OMIM:617435
Usher Syndrome, Type Iiia	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:276902
Dystonia 16	Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal sign, Bradykinesia, Gait...	OMIM:612067
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Retinitis Pigmentosa 80	Blindness, Progressive visual loss, Nyctalopia	OMIM:617781
Corneal Dystrophy, Gelatinous Drop-Like	Photophobia, Reduced visual acuity, Visual impairment, Blurred vision	OMIM:204870
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Inability to walk, Babinski sign, Spastic paraple...	OMIM:611225
Fleck Retina, Familial Benign	Nyctalopia, Visual impairment	OMIM:228980
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, ...	ORPHA:98755
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Hyperlordosis, Gait disturbance, Difficulty walking, Slender build	ORPHA:352470
Night Blindness, Congenital Stationary, Type 1H	Hypermetropia, Photophobia, Nyctalopia, Mild myopia	OMIM:617024
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Onion bulb formation, Tibialis anterior muscle atrophy, Peripheral axonal ...	OMIM:615035
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Cerebellar atrophy, Gait ataxia	ORPHA:217012
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu...	ORPHA:454887
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to...	OMIM:616710
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Decreased number of peri...	OMIM:607706
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Lowe...	OMIM:613710
Fundus Albipunctatus	Nyctalopia, Fundus albipunctatus	OMIM:136880
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy...	OMIM:500002
Hereditary Motor And Sensory Neuropathy V	Peripheral axonal neuropathy, Babinski sign, Abnormal pyramidal sign, Limb muscle weakness, Dista...	OMIM:600361
Inherited Creutzfeldt-Jakob Disease	Progressive extrapyramidal muscular rigidity, Spastic hemiparesis, Tremor, Chorea, Diffuse spongi...	ORPHA:282166
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus	Skeletal muscle atrophy, Ataxia	OMIM:158500
Sorsby Fundus Dystrophy	Blindness	OMIM:136900
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai...	OMIM:616230
Macular Dystrophy, Patterned, 2	Reduced visual acuity	OMIM:608970
Leber Congenital Amaurosis 16	Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment	OMIM:614186
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Cerebral atrophy, Distal sensory impairment, Bradykinesia, Abnormal c...	ORPHA:254886
Cerebral Sclerosis, Diffuse, Scholz Type	Blindness	OMIM:302700
Dysequilibrium Syndrome	Skeletal muscle atrophy, Cerebral palsy, Ataxia, Gait disturbance	ORPHA:1766
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia, Cerebellar atrophy	OMIM:615945
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Palatal tremor, Abnormal pyramidal sign, Spasticity, Abnormal cerebra...	ORPHA:363717
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia	OMIM:128235
Adrenomyeloneuropathy	Peripheral axonal degeneration, Back pain, Abnormal libido, Atrophy/Degeneration involving the co...	ORPHA:139399
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin...	OMIM:619911
Mental Retardation With Optic Atrophy, Deafness, And Seizures	Blindness, Severely reduced visual acuity	OMIM:309555
Spastic Paraplegia 42, Autosomal Dominant	Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:612539
Huntington Disease	Caudate atrophy, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sig...	ORPHA:399
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Babinski sign, S...	OMIM:610357
Dystonia 23	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dys...	OMIM:614860
Retinitis Pigmentosa 3	Constriction of peripheral visual field, Ring scotoma, Nyctalopia, Reduced visual acuity, High my...	OMIM:300029
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Rigidity, Parkinsonism	OMIM:605909
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Generalized amyotro...	ORPHA:401820
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis	OMIM:158580
Cone-Rod Dystrophy 21	Photophobia, Nyctalopia, Reduced visual acuity	OMIM:616502
Persistent Placoid Maculopathy	Scintillating scotoma, Metamorphopsia, Reduced visual acuity, Amblyopia	ORPHA:97341
Retinitis Pigmentosa 27	Blindness, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Visual imp...	OMIM:613750
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Impaired vibratory sensation, Mitochondrial hypertrophy, Decreased activity of mitochondrial comp...	OMIM:500013
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Abnormal basal...	ORPHA:157941
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Broad-based gait...	OMIM:614895
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy...	OMIM:616053
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis	OMIM:611067
Autosomal Recessive Dopa-Responsive Dystonia	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Gait ataxia, Bradykinesia, Abnorm...	ORPHA:101150
Primary Lateral Sclerosis, Adult, 1	Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ...	OMIM:611637
Juvenile Primary Lateral Sclerosis	Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper...	ORPHA:247604
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Cone-Rod Dystrophy 15	Constriction of peripheral visual field, Nyctalopia, Photophobia, Progressive visual loss, Color ...	OMIM:613660
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Retinitis Pigmentosa 63	Nyctalopia, Blurred vision	OMIM:614494
Macular Dystrophy, Retinal, 2	Central scotoma, Dyschromatopsia, Reduced visual acuity	OMIM:608051
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Cone-Rod Dystrophy 24	Pericentral scotoma, Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Color visio...	OMIM:620342
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Parkinsonism, Abnormal basal ganglia morphology, Cerebral atrophy,...	ORPHA:1320
Retinitis Pigmentosa 73	Ring scotoma, Constriction of peripheral visual field, Photopsia, Central scotoma, Nyctalopia, Bl...	OMIM:616544
Mitochondrial Membrane Protein-Associated Neurodegeneration	Abnormal substantia nigra morphology, Parkinsonism, Rigidity, Abnormal globus pallidus morphology...	ORPHA:289560
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I...	OMIM:616756
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Hand mus...	ORPHA:101077
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Axonal degeneration, Poor coordination, Decreased activity of mitochondrial com...	ORPHA:478029
Tritanopia	Photophobia, Tritanomaly, Color vision test abnormality, Reduced visual acuity	ORPHA:88629
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1	Central scotoma, Reduced visual acuity	OMIM:619382
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Parkinsonism, Microcephaly, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atroph...	OMIM:618877
Macular Dystrophy, Vitelliform, 2	Reduced visual acuity, Visual impairment	OMIM:153700
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Neuronal loss in central nervous system, Apraxia, Lewy bod...	OMIM:607485
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn...	OMIM:607317
Retinitis Pigmentosa 68	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:615725
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege...	OMIM:118210
Neurodegeneration With Brain Iron Accumulation 3	Cavitation of the basal ganglia, Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, C...	OMIM:606159
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Blue Cone Monochromacy	Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Visual impairment	OMIM:303700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Impaired vibration sensation in the l...	ORPHA:94124
Congenital Stationary Night Blindness	Myopia, Nyctalopia, Reduced visual acuity, Congenital stationary night blindness with normal fund...	ORPHA:215
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia...	OMIM:610743
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at...	OMIM:137440
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs,...	ORPHA:435387
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Distal lower limb amyotrophy, Impaired distal vibration sensation, Distal sensory impairment, Wea...	OMIM:619519
Macular Dystrophy, Patterned, 3	Reduced visual acuity	OMIM:617111
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Limb ataxia, Dysmetri...	OMIM:603516
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign,...	OMIM:614409
Retinitis Pigmentosa Inversa With Deafness	Blindness	OMIM:268010
Myopathy And Diabetes Mellitus	Impaired vibratory sensation, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Inabili...	ORPHA:2596
Retinitis Pigmentosa 17	Photophobia, Nyctalopia, Color vision defect	OMIM:600852
Manganese Poisoning	Postural tremor, Akinesia, Abnormal globus pallidus morphology, Abnormality of mitochondrial meta...	ORPHA:306682
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Optic atr...	OMIM:612319
Retinitis Pigmentosa 4	Blindness, Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:613731
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Spastic Paraplegia 76, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Spastic paraplegia, Dysmet...	OMIM:616907
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Roussy-Lévy Syndrome	Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem...	ORPHA:3115
Polyglucosan Body Neuropathy, Adult Form	Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Distal sensory impairm...	OMIM:263570
Alzheimer Disease 3	Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Gait disturbance, Myoclonus, Abnorm...	OMIM:607822
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Distal amyotro...	OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Upper limb mus...	OMIM:607677
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Rigidity...	OMIM:183090
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,...	OMIM:617207
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia...	OMIM:617854
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Lewy bodies	OMIM:619133
Muscular Atrophy, Malignant Neurogenic	Skeletal muscle atrophy, Respiratory paralysis	OMIM:158650
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Cortical dysplasia, Bradykinesia, Poor fine motor coordination, G...	ORPHA:36387
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Macular Degeneration, Atrophic, X-Linked	Reduced visual acuity	OMIM:300834
Migraine, Familial Hemiplegic, 3	Photophobia, Blindness	OMIM:609634
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Distal sensory impai...	OMIM:618387
Night Blindness, Congenital Stationary, Type 1F	Congenital stationary night blindness, Nyctalopia, Reduced visual acuity, High myopia	OMIM:615058
Retinal Cone Dystrophy 3A	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia	OMIM:610024
Dementia, Lewy Body	Lewy bodies, Parkinsonism	OMIM:127750
Infantile Dystonia-Parkinsonism	Cerebral palsy, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, Hypertonia, Limb hyp...	ORPHA:238455
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Tremor,...	OMIM:609260
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Skeletal muscle at...	OMIM:604360
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Ataxia, Tremor, Rigidity	OMIM:617836
Retinitis Pigmentosa 11	Blindness, Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:600138
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Gemignani Syndrome	Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy, Impaired pain sensation	ORPHA:2074
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti...	OMIM:300623
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Microcephaly, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, ...	OMIM:261640
Spinocerebellar Ataxia Type 38	Tremor, Cerebellar atrophy, Gait ataxia	ORPHA:423296
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome	Bradykinesia, Lower limb spasticity	OMIM:618878
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m...	OMIM:271150
Retinitis Pigmentosa 1	Myopia, Constriction of peripheral visual field, Scotoma, Nyctalopia, Reduced visual acuity	OMIM:180100
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa...	OMIM:615924
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Ravine Syndrome	Decreased body weight, Ataxia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the ...	ORPHA:99852
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Decreased activity of m...	OMIM:616811
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Falls, Parkinsonism with favorable response to dopaminergic medic...	ORPHA:240085
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur...	OMIM:616286
Central Areolar Choroidal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity, Slow decrease in visual acuity, Dyschromatopsia, ...	ORPHA:75377
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Parkinsonism, Microcephaly, Tremor, Inability to walk, Babinski sign, Scissor...	OMIM:617013
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ...	OMIM:182980
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Spinocerebellar atrophy, ...	OMIM:215470
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Abnormal mitochondrial shape, Ataxia, Periventricul...	ORPHA:543470
Leber Optic Atrophy And Dystonia	Bradykinesia, Athetosis, Spasticity, Upper motor neuron dysfunction	OMIM:500001
Retinal Cone Dystrophy 3B	Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia	OMIM:610356
Spastic Paraplegia 45, Autosomal Recessive	Lower limb spasticity, Skeletal muscle atrophy, Dysplastic corpus callosum, Babinski sign, Spasti...	OMIM:613162
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Nyctalopia, Decreased retinol-binding protein level, Reduced visual acuity, Tritanomaly, Visual i...	OMIM:615147
Spinal Muscular Atrophy, Type Ii	Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell...	OMIM:253550
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Distal amyotrophy...	ORPHA:468661
Retinal Capillary Malformation	Myopia, Blindness, Photopsia, Vitreous floaters, Amblyopia, Reduced visual acuity, Paracentral sc...	ORPHA:71213
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Impaired pain sensation, K...	OMIM:618124
Spastic Paraplegia 85, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Torticollis, Cerebellar atrophy, Peripheral ...	OMIM:619686
Optic Atrophy 12	Photophobia, Dyschromatopsia, Abnormal Ishihara plate test, Reduced visual acuity	OMIM:618977
Spinocerebellar Ataxia 12	Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Retinitis Pigmentosa	Nyctalopia, Constriction of peripheral visual field	OMIM:268000
Mucous Membrane Pemphigoid	Blindness	ORPHA:46486
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Large central visual field defect, Visual loss, Nyctalopia, Severely reduced visual ac...	ORPHA:59181
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Ataxia, Parkinsonism, Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Sp...	OMIM:300055
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste...	ORPHA:98760
Leber Congenital Amaurosis 4	Blindness, Reduced visual acuity, Nyctalopia	OMIM:604393
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Broad-based gait, Parkinsonism, Bradykinesia, Hypertonia, Limb hypertonia	OMIM:617384
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Hand muscle atrophy, Onion bulb formation, Facial palsy, Impaired pain sensation, Nemaline bodies...	OMIM:607684
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc...	OMIM:619725
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia	OMIM:613402
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Reduced visual acuity, Visual impairment	OMIM:616335
Autosomal Dominant Spastic Paraplegia Type 8	Lower limb spasticity, Clonus, Lower limb muscle weakness, Peroneal muscle atrophy, Degeneration ...	ORPHA:100989
Neuroferritinopathy	Resting tremor, Caudate atrophy, Parkinsonism, Involuntary movements, Abnormal putamen morphology...	ORPHA:157846
Autosomal Dominant Spastic Paraplegia Type 19	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:100999
Corneal Dystrophy, Lattice Type Iiia	Reduced visual acuity, Visual impairment	OMIM:608471
Charcot-Marie-Tooth Disease, Axonal, Type 2N	Distal lower limb amyotrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal senso...	OMIM:613287
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor,...	OMIM:615491
Cone-Rod Dystrophy 13	Photophobia, Reduced visual acuity, Visual impairment, Color vision defect	OMIM:608194
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:605588
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Cone-Rod Dystrophy 2	Blindness, Metamorphopsia, Constriction of peripheral visual field, Central scotoma, Nyctalopia, ...	OMIM:120970
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy	OMIM:162100
Macular Degeneration, Early-Onset	Reduced visual acuity	OMIM:616118
Charcot-Marie-Tooth Disease Type 4A	Impaired distal proprioception, Impaired pain sensation, Hand muscle weakness, Quadriceps muscle ...	ORPHA:99948
Retinitis Pigmentosa 62	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:614181
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ske...	OMIM:613954
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Inability to walk, Optic atrophy, Abnormali...	ORPHA:330050
Macular Dystrophy, Retinal, 1, North Carolina Type	Central scotoma, Reduced visual acuity	OMIM:136550
Autosomal Dominant Spastic Paraplegia Type 42	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:171863
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Reduced visual acuity	OMIM:165510
Pontocerebellar Hypoplasia Type 1	Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Hypoplasia of the pons, Optic atro...	ORPHA:2254
Retinitis Pigmentosa 69	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:615780
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616187
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Cone Dystrophy 4	Photophobia, Dyschromatopsia, Reduced visual acuity, Visual impairment	OMIM:613093
Intellectual Developmental Disorder, X-Linked 110	Bradykinesia	OMIM:301095
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp...	ORPHA:240094
Machado-Joseph Disease	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculat...	OMIM:109150
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista...	OMIM:608673
Autosomal Dominant Spastic Paraplegia Type 38	Lower limb spasticity, Peroneal muscle atrophy, Thenar muscle atrophy, Degeneration of the latera...	ORPHA:171617
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Cone Dystrophy 3	Photophobia, Reduced visual acuity, Progressive visual loss	OMIM:602093
Amyotrophic Lateral Sclerosis 11	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor ...	OMIM:612577
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Hypogonadotropic hypogonadism, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia,...	ORPHA:48431
Facial Onset Sensory And Motor Neuronopathy	Skeletal muscle atrophy, Paresthesia, Fasciculations	ORPHA:85162
Distal Hereditary Motor Neuropathy Type 5	Impaired vibratory sensation, Thenar muscle atrophy, Thenar muscle weakness, Unsteady gait, Upper...	ORPHA:139536
Stargardt Disease 4	Reduced visual acuity	OMIM:603786
Spastic Paraplegia 70, Autosomal Recessive	Skeletal muscle atrophy, Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, ...	OMIM:620323
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Retinitis Pigmentosa 47	Nyctalopia, Visual impairment	OMIM:613758
Late-Onset Retinal Degeneration	Visual loss, Adult-onset night blindness, Scotoma	OMIM:605670
Parkinson Disease 4, Autosomal Dominant	Lewy bodies, Parkinsonism	OMIM:605543
Retinitis Pigmentosa 79	Photophobia, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:617460
Retinitis Pigmentosa 76	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:617123
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Macular Dystrophy, Patterned, 1	Photophobia, Nyctalopia, Metamorphopsia, Reduced visual acuity	OMIM:169150
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ataxia, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia, Hypertonia, Falls,...	ORPHA:13
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Impaired vibratory sensation, Cerebellar atrophy, Decreased number of peripheral myelinated nerve...	OMIM:607250
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe...	OMIM:205100
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ...	ORPHA:139578
Retinitis Pigmentosa 2	Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Central scoto...	OMIM:312600
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Hand muscle weakness, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, D...	OMIM:608323
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Generalized amyotrophy, Intent...	ORPHA:2589
Pontocerebellar Hypoplasia, Type 1C	Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo...	OMIM:616081
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Axonal degeneration/regeneration, Thenar muscle atrophy, Segmental peripheral demyelination/remye...	OMIM:606483
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Ataxia, Segmental peripheral demyelination/remyelination, Hypoesthesia, Distal sensory impairment...	OMIM:601098
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye...	ORPHA:2590
Macular Dystrophy, Vitelliform, 3	Metamorphopsia, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:608161
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Fatty replacement of skeletal muscle, Impaired distal vibration sensatio...	OMIM:618279
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop...	OMIM:159950
Night Blindness, Congenital Stationary, Type 1E	Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia	OMIM:614565
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve co...	ORPHA:101075
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Skeletal muscle atrophy, Hand muscle weakness, Impaired proprioception, Hand...	ORPHA:101085
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Upper mot...	ORPHA:52430
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Incoordination, Ataxia, Dysmetria, Gait ataxia, Bradykinesia, Hemiparesis, Truncal ataxia, Episod...	OMIM:601338
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Abnormal cerebellar pedu...	ORPHA:98
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Steppage gait...	OMIM:620378
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Distal lower limb muscle weakness, Difficulty walking, Paralysis	OMIM:608634
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex...	ORPHA:137898
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Retinitis Pigmentosa 19	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment	OMIM:601718
Lethal Congenital Contracture Syndrome 4	Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis	OMIM:614915
Spinocerebellar Ataxia Type 2	Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce...	ORPHA:98756
Retinitis Pigmentosa 7	Nyctalopia, Constriction of peripheral visual field, Adult-onset night blindness	OMIM:608133
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Spinal muscular atrophy, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration o...	OMIM:607596
Retinitis Pigmentosa 61	Nyctalopia, Visual impairment	OMIM:614180
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Temporal ...	OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Distal lower limb amyotrophy, Decreased number of peripheral myelinated nerve fibers, Somatic sen...	OMIM:600882
Retinopathy, Pericentral Pigmentary, Dominant	Blindness, Nyctalopia	OMIM:180210
Usher Syndrome, Type Iid	Nyctalopia	OMIM:611383
Cone-Rod Dystrophy 5	Photophobia, Central scotoma, Reduced visual acuity, Color vision defect	OMIM:600977
Cln3 Disease	Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Generalized cerebral ...	ORPHA:228346
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Babinski sign, Ragged-r...	OMIM:616924
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Hand tremor, Bradykinesia, Blepharospasm, Shuffling gait, Difficulty walk...	ORPHA:53351
Porphyria, Acute Hepatic	Hemolytic anemia, Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive	OMIM:612740
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Babinski sign, Abn...	OMIM:616479
Retinitis Pigmentosa 38	Nyctalopia, Constriction of peripheral visual field, Progressive visual loss	OMIM:613862
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro...	ORPHA:363710
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration, Gait ataxia	ORPHA:438134
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, ...	ORPHA:99014
Spinocerebellar Ataxia 23	Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Neuronal loss in ...	OMIM:610245
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C...	OMIM:105500
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gait disturbance, Myoclonus, Aprax...	OMIM:221770
Spastic Ataxia 9, Autosomal Recessive	Ataxia, Babinski sign, Hoffmann sign, Abnormal pyramidal sign, Dysmetria, Impaired distal vibrati...	OMIM:618438
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Impaired distal vibration sensation, Distal amyotrophy, Steppage ga...	OMIM:610100
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Limb joint contracture, Abno...	ORPHA:309162
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tet...	OMIM:617892
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Spastic Paraplegia 17, Autosomal Dominant	Lower limb spasticity, Postural tremor, Impaired distal proprioception, Thenar muscle atrophy, Th...	OMIM:270685
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Distal lower limb amyotrophy, Ce...	ORPHA:276244
Retinitis Pigmentosa 81	Nyctalopia, Reduced visual acuity	OMIM:617871
Leber Congenital Amaurosis 14	Photophobia, Congenital blindness, Nyctalopia, Reduced visual acuity	OMIM:613341
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Color vision defect	OMIM:616732
Lethal Congenital Contracture Syndrome 8	Flexion contracture, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Distal amy...	OMIM:616287
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Cerebrotendinous Xanthomatosis	Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Mitochondrial respiratory chain ...	ORPHA:909
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Microcephaly, Tremor, Rigidity, Bradykinesia, Limb hypertonia	ORPHA:70594
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Postural tremor, Rigidit...	ORPHA:98808
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:180800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibra...	OMIM:258450
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T...	OMIM:607225
Postencephalitic Parkinsonism	Resting tremor, Abnormal substantia nigra morphology, Involuntary movements, Akinesia, Rigidity, ...	ORPHA:97349
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Kyphosis, Tremor, Gait dist...	ORPHA:101078
De Sanctis-Cacchione Syndrome	Ataxia, Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atro...	OMIM:278800
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia,...	OMIM:616719
Cataract 11, Multiple Types	Blindness	OMIM:610623
Achromatopsia 3	Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatopsia, Severe...	OMIM:262300
Achromatopsia 7	Photophobia, Central scotoma, Achromatopsia, Reduced visual acuity	OMIM:616517
Spinal Muscular Atrophy, Facioscapulohumeral Type	Skeletal muscle atrophy, Spinal muscular atrophy	OMIM:182970
Acute Peripheral Arterial Occlusion	Paralysis, Leukocytosis, Paresthesia, Impaired distal tactile sensation, Limb muscle weakness	ORPHA:90064
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesis, Hyperto...	ORPHA:71277
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo...	OMIM:608030
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Inability to wal...	OMIM:618184
Leber Congenital Amaurosis 2	Photophobia, Blindness, Reduced visual acuity, Nyctalopia	OMIM:204100
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Incoordination, Ataxia, Impaired distal proprioception, Babinski sign, Abnormal pyramidal sign, I...	OMIM:616688
Retinitis Pigmentosa 70	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:615922
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Spinal muscular atrophy, Lower limb muscle weakness, Fasciculations, Difficulty walking, Weakness...	OMIM:615575
Retinitis Pigmentosa 30	Nyctalopia, Visual impairment	OMIM:607921
Amyotrophic Lateral Sclerosis 1	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal...	OMIM:105400
Multiple System Atrophy	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br...	ORPHA:102
Bothnia Retinal Dystrophy	Large central visual field defect, Ring scotoma, Central scotoma, Nyctalopia, Visual field defect...	ORPHA:85128
Pulmonary Blastoma	Weight loss	ORPHA:64741
Cone-Rod Dystrophy And Hearing Loss 2	Photophobia, Reduced visual acuity	OMIM:618358
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate...	OMIM:271245
Retinitis Pigmentosa 28	Nyctalopia, Constriction of peripheral visual field	OMIM:606068
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil...	OMIM:608907
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Multiple System Atrophy, Cerebellar Type	Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sig...	ORPHA:227510
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia...	ORPHA:1020
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Macular Dystrophy With Central Cone Involvement	Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, High myopia, Visual impairment	OMIM:616170
Retinitis Pigmentosa 90	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:619007
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Bradykinesia, Blepharospasm, Parkinsonism with favorab...	OMIM:606324
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Cone-Rod Dystrophy 20	Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, High myopia, Tri...	OMIM:615973
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Axonal loss, Athetosis, Amyotrophic lateral sclerosis, Paralysis	OMIM:300857
Optic Atrophy 1	Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Centrocecal scotoma, Tritanoma...	OMIM:165500
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis	OMIM:619099
Retinitis Pigmentosa 54	Nyctalopia, Visual impairment	OMIM:613428
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Lower limb spasticity, Proximal muscle weakness in upper limbs, Babinski sign...	ORPHA:496689
Lethal Congenital Contracture Syndrome 3	Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita	OMIM:611369
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Torticollis, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, B...	ORPHA:98768
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign,...	OMIM:608627
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity	OMIM:606777
Nemaline Myopathy 5C, Autosomal Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakne...	OMIM:620389
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Dysplastic corpus callosum, Decreased activity of mitochondrial complex IV,...	OMIM:614924
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski...	OMIM:600363
Retinal Cone Dystrophy 4	Photophobia, Constriction of peripheral visual field, Reduced visual acuity, Visual impairment	OMIM:610478
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Gait ataxia, Br...	ORPHA:98933
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Increased mitochondrial number, Tremor, Dysmetria	OMIM:615578
Leukodystrophy, Hypomyelinating, 14	Blindness	OMIM:617899
Juvenile Amyotrophic Lateral Sclerosis	Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, Parkinsonism, Hea...	ORPHA:300605
Spastic Paraplegia 64, Autosomal Recessive	Skeletal muscle atrophy, Spasticity, Spastic paraplegia, Gait disturbance	OMIM:615683
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central...	OMIM:254110
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Adrenoleukodystrophy	Limb ataxia, Impotence, Dementia, Hypogonadism, Neurodegeneration, Attention deficit hyperactivit...	OMIM:300100
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Usher Syndrome Type 3	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231183
Tuberculosis	Weight loss	ORPHA:3389
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Impaired distal proprioceptio...	OMIM:270800
Retinitis Pigmentosa 33	Nyctalopia, Visual impairment	OMIM:610359
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Blindness	OMIM:607674
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Microcephaly, Bradykinesia, Slowed slurred speech, Lissencephaly, Pachygyria	OMIM:619827
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, Decreased activity of mitochond...	OMIM:618237
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Distal lower limb muscle weakness, Paralysis	OMIM:158590
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy, Scoliosis, Loss o...	OMIM:619518
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios...	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios...	ORPHA:276241
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Nyctalopia	OMIM:277350
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Visual impairment, Nyctalopia	OMIM:258870
Retinitis Pigmentosa 66	Constriction of peripheral visual field, Central scotoma, Nyctalopia, Reduced visual acuity, Visu...	OMIM:615233
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab...	OMIM:256600
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Isaacs Syndrome	Fasciculations, Weight loss	ORPHA:84142
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Skeletal muscle atrophy, Distal sensory impairment, Fasciculations, Sensory axonal neuropathy, Fo...	OMIM:137200
Autosomal Dominant Spastic Paraplegia Type 37	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:171612
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ...	ORPHA:98763
Charcot-Marie-Tooth Disease Type 1A	Skeletal muscle atrophy, Sensory ataxia, Distal sensory impairment, Calf muscle hypertrophy, Pare...	ORPHA:101081
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di...	OMIM:612020
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Decreased number of ...	OMIM:270550
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Adult-Onset Nemaline Myopathy	Bradykinesia, Poor fine motor coordination, Difficulty walking	ORPHA:171442
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal sensory impairment, Distal amyotrop...	OMIM:118300
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysme...	ORPHA:79263
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py...	OMIM:602099
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Babinski sign, Flexion contracture, Spastic tetraplegia, Dysmetria, Progressi...	OMIM:618404
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi...	ORPHA:93256
Bothnia Retinal Dystrophy	Nyctalopia	OMIM:607475
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Decreased activity...	OMIM:613662
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Chronic axonal neuropathy, Impaired vibratory sensation, Lower limb spasticit...	ORPHA:88644
Spinocerebellar Ataxia 1	Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Dorsal column degeneration, ...	OMIM:164400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Charcot-Marie-Tooth Disease, Type 4B3	Skeletal muscle atrophy, Onion bulb formation, Distal sensory impairment, Upper limb muscle weakn...	OMIM:615284
Cone-Rod Dystrophy 16	Photophobia, Nyctalopia, Reduced visual acuity, Progressive visual loss	OMIM:614500
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Blindness	ORPHA:2787
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Ataxia, Delayed peripheral myelination, Kyphosis, Unsteady ...	ORPHA:464282
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:145900
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Myopia 22, Autosomal Dominant	Reduced visual acuity, High myopia	OMIM:615420
Triose Phosphate-Isomerase Deficiency	Central nervous system degeneration, Skeletal muscle atrophy, Diaphragmatic paralysis	ORPHA:868
Nemaline Myopathy 6	Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies	OMIM:609273
Ceroid Lipofuscinosis, Neuronal, 3	Blindness, Reduced visual acuity, Progressive visual loss	OMIM:204200
Classic Progressive Supranuclear Palsy Syndrome	Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharospasm, Slowed slur...	ORPHA:240071
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Neuronal loss in central ner...	ORPHA:683
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Abnormal mitochondrial shape, Unsteady gait, Cerebral atrophy, Gait disturban...	ORPHA:412217
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle...	ORPHA:370980
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Anterior beaking of lu...	OMIM:230650
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls, Agenesis of cor...	OMIM:616540
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Neurofibrillary tangles, ...	OMIM:601104
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Spastic diplegia, Cerebral atrophy, Tetraparesis, Failure to thriv...	ORPHA:255182
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Neuronal loss in basal ganglia, Postural tremor, Parkinsonism, Akinesia, Neurofib...	OMIM:609454
Leber Congenital Amaurosis 1	Photophobia, Blindness, Reduced visual acuity, Nyctalopia	OMIM:204000
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Distal sensory impairment, Upper limb muscle we...	OMIM:607791
Myopia 23, Autosomal Recessive	Reduced visual acuity, Visual impairment, High myopia	OMIM:615431
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Bradykinesia, Gait ataxia, Gait ...	ORPHA:225147
Autosomal Dominant Spastic Paraplegia Type 17	Hand muscle atrophy, Postural tremor, Hand muscle weakness, Abnormality of the foot musculature, ...	ORPHA:100998
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Babinski sign, Abnorma...	ORPHA:513436
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Onion bulb formation, Ataxia, Dysmetria, Dysdiadochokinesis, ...	OMIM:614487
Corneal Dystrophy, Epithelial Basement Membrane	Reduced visual acuity	OMIM:121820
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Hypogonadism, Abnormal autonomic nervo...	ORPHA:97229
Charcot-Marie-Tooth Disease, Dominant Intermediate G	Waddling gait, Ataxia, Babinski sign, Lower limb amyotrophy, Distal sensory impairment, Steppage ...	OMIM:617882
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:85317
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Postural tremor, Ba...	ORPHA:100988
Night Blindness, Congenital Stationary, Type 1C	Congenital stationary night blindness, Myopia, Reduced visual acuity	OMIM:613216
Amyotonia Congenita	Skeletal muscle atrophy	OMIM:205000
Albinism, Oculocutaneous, Type Vi	Photophobia, Reduced visual acuity, Visual impairment	OMIM:113750
Åland Islands Eye Disease	Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, Color vision defect	ORPHA:178333
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F...	OMIM:616437
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity	OMIM:614808
Retinitis Pigmentosa 32	Photophobia, Nyctalopia, Reduced visual acuity	OMIM:609913
Pontocerebellar Hypoplasia, Type 11	Skeletal muscle atrophy, Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poo...	OMIM:617695
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Nyctalopia, Reduced visual acuity	OMIM:610156
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne...	OMIM:608340
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Cerebellar atrophy, Ataxia, Dysmetria	OMIM:617917
Autosomal Dominant Spastic Paraplegia Type 12	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I...	ORPHA:100993
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity, Ataxia, Spastic tetraplegia, Tetraparesis	ORPHA:263410
Usher Syndrome, Type Iv	Nyctalopia, Constriction of peripheral visual field, Ring scotoma	OMIM:618144
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Ataxia, Inability to walk, Optic atrophy, Dysmetria, Atrophy/Degeneration aff...	OMIM:617954
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ...	OMIM:612953
Hypermanganesemia With Dystonia 1	Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm...	OMIM:613280
Childhood-Onset Nemaline Myopathy	Waddling gait, Clumsiness, Poor fine motor coordination, Bradykinesia, Difficulty walking	ORPHA:171439
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Somatic sensory dysfunction, Optic atrophy, Generalized limb muscle atrophy, Gait ataxia, Hepatos...	ORPHA:466794
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof...	OMIM:601162
Musk, Inability To Smell	Blindness	OMIM:254150
Choroideremia	Nyctalopia, Constriction of peripheral visual field, Progressive visual loss, Visual impairment	OMIM:303100
Usher Syndrome Type 1	Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia	ORPHA:231169
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Opti...	OMIM:609541
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Upper limb a...	ORPHA:99953
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Nanophthalmos 4	Reduced visual acuity, Hypermetropia	OMIM:615972
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, A...	ORPHA:98759
Retinopathy Of Prematurity	Blindness	ORPHA:90050
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Failure to thrive, Ataxia, Tongue fasciculations	OMIM:620007
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Perry Syndrome	Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss	ORPHA:178509
Autosomal Spastic Paraplegia Type 58	Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr...	ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par...	ORPHA:139480
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Autosomal Recessive Spastic Paraplegia Type 5A	Impaired vibratory sensation, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, S...	ORPHA:100986
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a...	ORPHA:500180
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Involuntary movements, Tongue fasciculations, Increased variability in m...	ORPHA:238329
Retinitis Pigmentosa	Blindness, Photophobia, Hypogonadism, Progressive night blindness, Abnormal testis morphology, Vi...	ORPHA:791
Congenital Myopathy 23	Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, T...	OMIM:609285
Achromatopsia	Myopia, Central scotoma, Monochromacy, Reduced visual acuity, Hypermetropia, Color vision test ab...	ORPHA:49382
Reticular Dystrophy Of Retinal Pigment Epithelium	Nyctalopia	OMIM:179840
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotr...	ORPHA:352447
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi...	ORPHA:391428
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity	OMIM:611895
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Atrophy of the spinal cord, Atrophy/Degeneration affecting the brainstem, Bab...	ORPHA:445062
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Gait ataxia, Failure to th...	OMIM:612075
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Nyctalopia, Constriction of peripheral visual field, Hypermetropia	OMIM:267760
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona...	ORPHA:254930
Autosomal Dominant Spastic Paraplegia Type 41	Lower limb spasticity, Hand muscle weakness, Degeneration of the lateral corticospinal tracts, Sp...	ORPHA:320355
Bestrophinopathy, Autosomal Recessive	Reduced visual acuity, Hypermetropia	OMIM:611809
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Congenital blindness, Hypertriglyceridemia	ORPHA:436182
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Optic atrophy, Choreoathetosis, Gait di...	ORPHA:702
Chromosome Xq21 Deletion Syndrome	Nyctalopia, Constriction of peripheral visual field, Progressive visual loss	OMIM:303110
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ...	OMIM:617404
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Lafora bodies, Progressive cerebellar ataxia, Myoclo...	OMIM:616640
Microphthalmia, Isolated 5	Photophobia, High hypermetropia, Nyctalopia, Reduced visual acuity	OMIM:611040
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Spastic dysarthria, Abnormal...	ORPHA:313772
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Cone-Rod Dystrophy 18	Central scotoma, Reduced visual acuity, High myopia	OMIM:615374
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand muscle weakness, Segmental peripheral demyelination/remyelination, Hypoesthesia, Vocal cord ...	OMIM:162500
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical hemiatrophy...	ORPHA:33445
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S...	OMIM:615290
Adult Krabbe Disease	Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata...	ORPHA:206448
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Neuropathy, Ataxia, And Retinitis Pigmentosa	Blindness	OMIM:551500
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Dystonia	OMIM:617916
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis	OMIM:300861
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia	ORPHA:796
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Somatic sensory dysfunction, Peripheral axonal neuropathy, Inability to walk, Upper limb muscle w...	ORPHA:99939
Night Blindness, Congenital Stationary, Type 2A	Congenital stationary night blindness, Reduced visual acuity, Visual impairment	OMIM:300071
Optic Atrophy 7 With Or Without Auditory Neuropathy	Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Dyschromatopsia,...	OMIM:612989
Scapuloperoneal Myopathy, X-Linked Dominant	Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper...	OMIM:300695
Retinitis Pigmentosa 50	Nyctalopia, Reduced visual acuity	OMIM:613194
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas...	OMIM:300816
Retinitis Pigmentosa 9	Nyctalopia, Constriction of peripheral visual field	OMIM:180104
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progressive spastic parapl...	ORPHA:466722
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuro...	ORPHA:98771
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, F...	ORPHA:319199
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu...	ORPHA:466768
Mitochondrial Complex I Deficiency, Nuclear Type 31	Skeletal muscle atrophy, Failure to thrive, Myoclonus, Dysmetria	OMIM:618251
Gómez-López-Hernández Syndrome	Ataxia, Abnormal brainstem morphology, Impaired pain sensation	ORPHA:1532
O'Sullivan-Mcleod Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Eosinophilia, Ha...	ORPHA:99965
Retinitis Pigmentosa 59	Cryptorchidism, Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:613861
Gyrate Atrophy Of Choroid And Retina	Myopia, Blindness, Constriction of peripheral visual field, Progressive visual loss, Progressive ...	ORPHA:414
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Ataxia, Axonal loss, Difficulty walking, Peripheral demyelination	OMIM:616684
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon con...	OMIM:606612
Early-Onset Lafora Body Disease	Ataxia, Myoclonus, Spastic tetraparesis, Lafora bodies	ORPHA:324290
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, W...	ORPHA:3208
Ceroid Lipofuscinosis, Neuronal, 1	Blindness, Progressive visual loss	OMIM:256730
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait	OMIM:168605
Retinitis Pigmentosa 93	Constriction of peripheral visual field, Reduced visual acuity	OMIM:619845
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Abnormal brainstem morphology, Ab...	ORPHA:79279
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, Pseudobulbar paralysis, Gait distu...	ORPHA:101006
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity	OMIM:612069
Autosomal Recessive Spastic Paraplegia Type 15	Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign,...	ORPHA:100996
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Spastic ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti...	ORPHA:496756
Krabbe Disease	Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Neurode...	OMIM:245200
Autosomal Dominant Spastic Paraplegia Type 36	Lower limb spasticity, Impaired distal proprioception, Impaired temperature sensation, Abnormal b...	ORPHA:320365
Retinitis Pigmentosa 6	Nyctalopia, Constriction of peripheral visual field	OMIM:312612
Retinitis Pigmentosa 40	Nyctalopia	OMIM:613801
Retinitis Pigmentosa 96	Constriction of peripheral visual field, Reduced visual acuity	OMIM:620228
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Abnormal pyramidal sign, Optic atrophy, Brain...	OMIM:618228
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibration...	OMIM:157640
Retinitis Pigmentosa 51	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Visual impairment	OMIM:613464
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Abnormal pyramidal sign, Impa...	ORPHA:352641
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy	OMIM:618453
Ataxia-Deafness-Intellectual Disability Syndrome	Skeletal muscle atrophy, Ataxia, Cerebral cortical atrophy	ORPHA:1188
Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodeg...	ORPHA:803
Retinitis Pigmentosa 12	High hypermetropia, Nyctalopia, Reduced visual acuity	OMIM:600105
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Ataxia, Small for gestational age, Failure to thrive in infancy, Babinsk...	ORPHA:59
Charcot-Marie-Tooth Disease, Type 4D	Kyphoscoliosis, Impaired distal proprioception, Segmental peripheral demyelination/remyelination,...	OMIM:601455
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Hypogonadism, Decreased testicular size, Gait disturbance	ORPHA:1875
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc...	OMIM:608358
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Peripheral axonal neuropathy, Rhabdomyolysis, Ragged-red muscle fibers, ...	OMIM:617070
Angioedema, Hereditary, 1	Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration	OMIM:106100
Spinocerebellar Ataxia, Autosomal Recessive 3	Blindness	OMIM:271250
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Inability ...	ORPHA:206559
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impa...	OMIM:616586
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Mitochondrial hypertrophy, Facial palsy	OMIM:602541
Retinitis Pigmentosa 71	Nyctalopia	OMIM:616394
Cone-Rod Dystrophy, X-Linked, 3	Myopia, Central scotoma, Reduced visual acuity, Photophobia, Visual impairment, Color vision defect	OMIM:300476
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, G...	OMIM:610185
Bardet-Biedl Syndrome 4	Cryptorchidism, Nyctalopia, Hypogonadism	OMIM:615982
Chromosome 16Q12 Duplication Syndrome	Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Paracentral scotoma, Tritanomaly	OMIM:619649
Posterior Column Ataxia With Retinitis Pigmentosa	Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ...	OMIM:609033
Usher Syndrome, Type 1M	Nyctalopia	OMIM:618632
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis, Small for gestational age, Decreased body weight	OMIM:618392
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Kyphosis, Limb ataxia, Gait ataxia, S...	OMIM:248800
Baralle-Macken Syndrome	Inability to walk, Kyphosis, Obesity, Spasticity, Global brain atrophy	OMIM:619255
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles, Cerebral cortex with spongiform changes, Senile plaques	OMIM:605055
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:118220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Pontocerebellar Hypoplasia Type 10	Spasticity, Hypertonia, Optic atrophy, Abnormal brainstem morphology	ORPHA:411493
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Retinitis Pigmentosa 37	Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac...	OMIM:611131
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Blindness	OMIM:204850
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Night Blindness, Congenital Stationary, Type 1B	Hemeralopia, Myopia, Nyctalopia, Congenital stationary night blindness	OMIM:257270
Autosomal Dominant Progressive External Ophthalmoplegia	Cerebellar atrophy, Resting tremor, Ataxia, Tremor, Rigidity, Gait ataxia, Bradykinesia, Cogwheel...	ORPHA:254892
Leber Congenital Amaurosis 9	Ultra-low vision with retained light perception, Nyctalopia, Reduced visual acuity, Hypermetropia...	OMIM:608553
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Optic Pathway Glioma	Visual loss, Blindness, Reduced visual acuity, Visual field defect	ORPHA:2086
Idiopathic Achalasia	Weight loss	ORPHA:930
Niemann-Pick Disease, Type C1	Ataxia, Neurofibrillary tangles, Gait ataxia, Cataplexy, Spasticity, Neuronal loss in central ner...	OMIM:257220
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait	OMIM:303350
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal pyramidal sign, Limb muscle weakness, Gait imbalance, Loss of a...	ORPHA:329336
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Scapular winging, Facial palsy, Eosinophilia, Flexion contracture, Clumsiness, Proximal...	OMIM:253600
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Spinocerebellar Ataxia 36	Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ...	OMIM:614153
Morm Syndrome	Photophobia, Progressive night blindness, Visual impairment	ORPHA:75858
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ab...	ORPHA:139396
Retinitis Pigmentosa 88	Nyctalopia, Reduced visual acuity	OMIM:618826
Legg-Calvé-Perthes Disease	Skeletal muscle atrophy	ORPHA:2380
Prolactinoma	Bitemporal hemianopia, Blindness, Dyspareunia, Hypogonadotropic hypogonadism, Decreased female li...	ORPHA:2965
Christianson Syndrome	Cerebellar atrophy, Decreased muscle mass, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis ...	ORPHA:85278
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d...	OMIM:614898
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Lower limb spasticity, Somatic sensory dysfunction, Abnormal pyramidal sign, Optic atrophy, Progr...	ORPHA:1177
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Leber Congenital Amaurosis With Early-Onset Deafness	Photophobia, High hypermetropia, Reduced visual acuity	OMIM:617879
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Nephronophthisis 15	Blindness	OMIM:614845
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Diaphragmatic paralysis, Knee flexion contracture, Distal sensory...	OMIM:612954
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, Cerebellar vermi...	OMIM:213200
Cone-Rod Dystrophy 6	Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Photophobia, Hemeralopia, Progre...	OMIM:601777
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypogonadotropic hypogon...	ORPHA:298
Flynn-Aird Syndrome	Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral cortical atrophy	ORPHA:2047
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis	ORPHA:505652
Cog8-Cdg	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem...	ORPHA:95428
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration	OMIM:146500
Non-24-Hour Sleep-Wake Syndrome	Blindness	ORPHA:73267
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Flexion contract...	OMIM:616505
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Retinitis Pigmentosa 60	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Peripheral visual fie...	OMIM:613983
Exudative Vitreoretinopathy 5	Reduced visual acuity, Visual impairment	OMIM:613310
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Flexion contracture, Degenera...	OMIM:301830
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Macrocytic anemia, Ataxia, Corpus ...	ORPHA:98673
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Distal lower limb amyotrophy, Decreased number of peripheral myelinated nerve fibers, Exaggerated...	ORPHA:320406
Retinitis Pigmentosa 49	Nyctalopia, Reduced visual acuity, Peripheral visual field loss	OMIM:613756
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Neurodegeneration, Cognitive impairment	ORPHA:309246
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy	OMIM:208100
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Central scotoma, Red-green dyschromatopsia, Reduced visual acuity, Centrocecal scotoma, Tritanoma...	OMIM:125250
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Hand muscle atrophy, Skeletal muscle atrophy, Distal sensory impairment, Gait disturbance, Periph...	ORPHA:99944
Retinitis Pigmentosa 83	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Vitreous floaters	OMIM:618173
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro...	OMIM:617710
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Distal amyotro...	OMIM:118200
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, D...	OMIM:615217
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Cerebral atrophy	OMIM:618637
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy	OMIM:203740
Retinitis Pigmentosa 84	Nyctalopia, Visual acuity no light perception	OMIM:618220
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Bietti Crystalline Corneoretinal Dystrophy	Constriction of peripheral visual field, Reduced visual acuity, High myopia, Paracentral scotoma,...	OMIM:210370
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Retinitis Pigmentosa 95	Constriction of peripheral visual field, Reduced visual acuity	OMIM:620102
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v...	ORPHA:485421
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Skeletal muscle atrophy, Impaired distal proprioception, Decreased number of large peripheral mye...	OMIM:162400
Leukoencephalopathy With Vanishing White Matter 1	Blindness, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea	OMIM:603896
Alzheimer Disease, Familial, 1	Neurofibrillary tangles, Parkinsonism	OMIM:104300
Alzheimer Disease 2	Neurofibrillary tangles, Parkinsonism	OMIM:104310
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Blindness, Reduced visual acuity	ORPHA:440727
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Flexion contracture...	OMIM:275900
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Foot dorsiflexor weakness, Distal sensory impairment, Distal amyotrophy, Steppage gait, Periphera...	OMIM:607736
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Limb muscle weakness, Spa...	ORPHA:363722
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Reduced visual acuity, Secondary amenorrhea	OMIM:617175
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Clonus, Reduced muscle fi...	ORPHA:370959
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy	OMIM:255600
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy,...	OMIM:615084
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spinal cord les...	ORPHA:401866
Charcot-Marie-Tooth Disease Type 1B	Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Skeletal musc...	ORPHA:101082
Atypical Rett Syndrome	Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Limb myoclon...	ORPHA:3095
Non-Functioning Pituitary Adenoma	Macroorchidism, postpubertal, Bitemporal hemianopia, Blindness, Decreased female libido, Hypogona...	ORPHA:91349
Cone-Rod Dystrophy 19	Reduced visual acuity, High myopia	OMIM:615860
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, N...	OMIM:616239
Retinitis Pigmentosa 72	Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, High myopia, Photophobia	OMIM:616469
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Spasticity, Intention tremor	OMIM:117300
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity	ORPHA:2429
Immunoneurologic Disorder, X-Linked	Nyctalopia	OMIM:300076
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles, Senile plaques	DECIPHER:48
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Autosomal Recessive Spastic Paraplegia Type 66	Lower limb spasticity, Progressive spastic paraplegia, Impaired vibration sensation in the lower ...	ORPHA:401815
Cataract 48	Reduced visual acuity, Amblyopia	OMIM:618415
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal basal ganglia MRI signal intensity, Microcephaly, Rigidity, Abnormal globus pallidus mor...	ORPHA:309854
Chromosome Xp11.3 Deletion Syndrome	Moderate myopia, Constriction of peripheral visual field, Blindness, Cryptorchidism, Nyctalopia, ...	OMIM:300578
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Tremor, Rigidity, Dysmetria, Gait ataxia	OMIM:618090
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Distal amyotrophy, Steppage g...	OMIM:302802
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Achilles tendon contracture, Babinski sign, Optic atrophy, Dysmetria,...	OMIM:612674
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia	OMIM:612126
Cone-Rod Dystrophy 8	Photophobia, Blindness, Peripheral visual field loss, Nyctalopia	OMIM:605549
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m...	OMIM:617760
Kearns-Sayre Syndrome	Hemiplegia/hemiparesis, Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy	ORPHA:480
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax...	ORPHA:276198
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Short neck, Inability to walk, Cerebral atrophy, Hyperton...	OMIM:616801
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction...	OMIM:606070
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Clonus, Atrophy of the spinal cord, Babinski...	OMIM:256840
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Inability to walk, Optic atrophy, Cerebral atrop...	ORPHA:457205
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Narp Syndrome	Abnormal visual field test, Blindness, Constriction of peripheral visual field	ORPHA:644
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Paresthesia	ORPHA:640
Developmental And Epileptic Encephalopathy 46	Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia	OMIM:617162
Jalili Syndrome	Scotoma, Nyctalopia, Monochromacy, Photophobia, High hypermetropia, Visual impairment	OMIM:217080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Myopia, Blindness, Elevated circulating creatine kinase concentration	OMIM:615181
Corneal Dystrophy, Meesmann, 1	Photophobia, Reduced visual acuity	OMIM:122100
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Kyphoscoliosis, Cryptorc...	OMIM:214150
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Unsteady gait, Dist...	ORPHA:600
Stargardt Disease	Central scotoma, Nyctalopia, Reduced visual acuity, Color vision defect	ORPHA:827
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Fatal Familial Insomnia	Ataxia, Weight loss, Myoclonus, Abnormal autonomic nervous system physiology, Neuronal loss in ce...	OMIM:600072
Mohr-Tranebjaerg Syndrome	Myopia, Constriction of peripheral visual field, Cerebral visual impairment, Reduced visual acuit...	OMIM:304700
Bardet-Biedl Syndrome 21	Myopia, Blindness, Constriction of peripheral visual field	OMIM:617406
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Hemi...	ORPHA:300573
Rigid Spine Syndrome	Waddling gait, Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring con...	ORPHA:97244
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Cerebral cortex with spongiform changes, Parkinsonism	OMIM:606688
Peroxisome Biogenesis Disorder 6B	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Impaired distal vibration sensation, Un...	OMIM:614871
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Rett Syndrome	Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking, Primary micr...	ORPHA:778
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Speech apraxia, Lower limb spasticity, Cerebellar atrophy, Postural tremor, Rigidity, Corpus call...	ORPHA:412057
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intr...	OMIM:620285
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance	ORPHA:157973
Barth Syndrome	Failure to thrive, Gait disturbance, Abnormal mitochondrial morphology	OMIM:302060
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo...	ORPHA:420492
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Inability to walk, Weight loss, Opisthotonus, Tip-toe gait, Gait disturbance, ...	ORPHA:216866
Joubert Syndrome 31	Oculomotor apraxia, Molar tooth sign on MRI, Hypoplasia of the corpus callosum, Truncal ataxia	OMIM:617761
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Rett Syndrome	Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity, Cerebral co...	OMIM:312750
Neuroblastoma, Susceptibility To, 1	Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Gang...	OMIM:256700
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness	OMIM:614514
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Inability to walk, Opt...	OMIM:617481
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ...	OMIM:253601
Alpers-Huttenlocher Syndrome	Abnormality of vision, Blindness	ORPHA:726
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas...	OMIM:612438
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Platysp...	OMIM:618476
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Hypoplasia of the pons, Optic atrophy, Spastic tetraplegia, Abnormality ...	OMIM:619527
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Titubation, Cerebral atrophy	OMIM:619405
Mitochondrial Complex I Deficiency, Nuclear Type 17	Rigidity, Skeletal muscle atrophy, Ataxia, Gait disturbance	OMIM:618239
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Fried Syndrome	Skeletal muscle atrophy, Gait disturbance, Spastic diplegia	ORPHA:85335
Retinitis Pigmentosa 77	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:617304
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Severe Canavan Disease	Blindness	ORPHA:314911
Lennox-Gastaut Syndrome	Falls, Myoclonus, Abnormal brainstem morphology	ORPHA:2382
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Japanese Encephalitis	Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis...	ORPHA:79139
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Inability to walk...	OMIM:128100
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Hypoplasia ...	OMIM:605013
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Optic atrophy, Dy...	OMIM:617988
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Corpus callosum atrophy, Kyphosi...	ORPHA:171629
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Atrophy/Degeneration affecti...	ORPHA:228360
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Thrombocytopenia	OMIM:274240
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Inability to walk, Babinski sign, Cerebral atrophy, Hypoplasia of the br...	OMIM:616420
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:614831
Horner Syndrome, Congenital	Paralysis	OMIM:143000
X-Linked Immunoneurologic Disorder	Nyctalopia	ORPHA:2571
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Optic atrophy, Decreased b...	ORPHA:477814
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age	ORPHA:85288
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Obes...	ORPHA:3085
Chronic Hiccup	Weight loss	ORPHA:396
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Tremor, Cryptorchidism, Kyphosis, Gait ataxia, Abdominal obesity, Hypogonadism, Decreased testicu...	OMIM:300354
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Abnormal mitochondrial shape, Microcephaly, Unsteady...	ORPHA:17
Irvan Syndrome	Photophobia, Blurred vision, Reduced visual acuity, Vitreous floaters	ORPHA:209943
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Corneal Dystrophy And Perceptive Deafness	Reduced visual acuity	OMIM:217400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Chronic axonal neuropathy, Cerebellar atrophy, Peripheral axonal neuropathy, Tremor, Chorea, Impa...	OMIM:606002
Autosomal Recessive Spastic Paraplegia Type 11	Peripheral axonal neuropathy, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overwei...	ORPHA:2822
Ataxia-Telangiectasia	Skeletal muscle atrophy, Lymphopenia, Ataxia, Tremor, Gait disturbance, Spasticity, Failure to th...	ORPHA:100
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Oligozoospermia	ORPHA:3000
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Small for gestational age, Loss of ability to walk in early childhood, M...	OMIM:612073
Cone-Rod Dystrophy 10	Photophobia, Nyctalopia, Progressive visual loss, Peripheral visual field loss	OMIM:610283
Pyruvate Dehydrogenase E2 Deficiency	Broad-based gait, Dementia, Neurodegeneration, Gait disturbance, Difficulty walking	ORPHA:79244
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the vertebral bodies	ORPHA:93941
Distal Anoctaminopathy	Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m...	ORPHA:399096
Superficial Siderosis	Cerebellar atrophy, Back pain, Ataxia, Impaired temperature sensation, Impaired pain sensation, A...	ORPHA:247245
Kufor-Rakeb Syndrome	Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Ble...	ORPHA:306674
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Tetraparesis, Muscular dystrophy,...	OMIM:616827
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity	OMIM:618323
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls	OMIM:300718
Usher Syndrome	Myopia, Blindness, Nyctalopia, Decreased fertility, Visual field defect, Progressive visual loss,...	ORPHA:886
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Joubert Syndrome 25	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI	OMIM:616781
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spast...	OMIM:616795
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Cerebral atro...	OMIM:615838
Myopathy, Tubular Aggregate, 1	Nyctalopia, Elevated circulating creatine kinase concentration	OMIM:160565
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal...	OMIM:301900
Friedreich Ataxia	Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Decreased pyruvate ...	OMIM:229300
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle...	OMIM:158900
Retinitis Pigmentosa 14	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:600132
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100083
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature	OMIM:617069
Methanol Poisoning	Hyperlipidemia, Blindness, Visual impairment, Blurred vision	ORPHA:31825
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Alzheimer Disease 4	Neurofibrillary tangles, Senile plaques, Apraxia, Cerebral amyloid angiopathy	OMIM:606889
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Mitochondrial swelling, Vocal cord paralysis	ORPHA:397744
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ata...	OMIM:210000
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Lafora Disease	Ataxia, Inability to walk, Lafora bodies, Gait disturbance, Myoclonus, Brain atrophy, Erratic myo...	ORPHA:501
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Hyperlipidemia, Familial Combined, 3	Hyperlipidemia, Elevated circulating apolipoprotein B concentration, Elevated circulating apolipo...	OMIM:144250
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Retinitis Pigmentosa 58	Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity	OMIM:613617
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia, Horner syndrome	OMIM:141300
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Spasticity	ORPHA:2828
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Nyctalopia	ORPHA:436274
Idiopathic Panuveitis	Blindness, Vitreous floaters, Reduced visual acuity, Abnormality of vision, Photophobia, Blurred ...	ORPHA:280921
Fumarase Deficiency	Decreased fumarate hydratase activity, Microcephaly, Mitochondrial swelling, Cerebral atrophy, Hy...	OMIM:606812
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Cerebral atrophy, M...	ORPHA:442835
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
Hypokalemic Periodic Paralysis	Abnormal muscle fiber morphology, Paralysis, Respiratory paralysis, Increased intramyocellular li...	ORPHA:681
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Onion bulb formation, Peripheral axonal neuropathy, Tremor, Inability to...	OMIM:218000
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Skeletal muscle atrophy, Flexion contracture, Cerebral atrophy, Tongue fascic...	OMIM:614678
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Spastici...	OMIM:607694
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Abnorm...	OMIM:312080
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Facial palsy, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Gait imbalance, S...	OMIM:211530
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Abnormal me...	ORPHA:297
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Combined Oxidative Phosphorylation Deficiency 7	Skeletal muscle atrophy, Failure to thrive, Ataxia, Optic atrophy, Distal sensory impairment, Fac...	OMIM:613559
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Failure to thrive, Babinski sign, Spastic paraplegia	ORPHA:477673
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Ataxia, Head titubation, Abnormal brainstem morphology, Oculomotor apraxia, Elongated superior ce...	ORPHA:370022
Spastic Paraplegia 15, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Babinski sign, Spastic parap...	OMIM:270700
Variegate Porphyria	Paralysis	OMIM:176200
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Skeletal muscle atrophy, Ataxia, Inability to walk, Flexion contracture, Hypoplasia of the brains...	ORPHA:481152
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Abnormality of the musculature of the lower limbs, Dysesthesia, Myel...	ORPHA:268882
Exudative Vitreoretinopathy 4	Blindness, Reduced visual acuity	OMIM:601813
Bardet-Biedl Syndrome 3	Nyctalopia, Visual impairment	OMIM:600151
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Abnormality of mitochondrial metabolis...	ORPHA:314404
Mulibrey Nanism	Cachexia	ORPHA:2576
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Skeletal muscle atrophy, Onion bulb formation, Optic neuropathy, Tibialis ...	ORPHA:320375
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic disc pallor, Optic atrophy, Limb muscle weakness, Distal sensory impairment, Distal amyotro...	OMIM:601152
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Im...	ORPHA:99949
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Fuchs Endothelial Corneal Dystrophy	Visual loss, Nyctalopia, Reduced visual acuity	ORPHA:98974
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,...	ORPHA:99027
Retinitis Pigmentosa 75	Myopia, Nyctalopia, Peripheral visual field loss	OMIM:617023
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Obesity, Tetra...	OMIM:616267
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac...	ORPHA:98863
Deafness, X-Linked 5, With Peripheral Neuropathy	Skeletal muscle atrophy, Unsteady gait, Sensory axonal neuropathy, Distal sensory impairment	OMIM:300614
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Spastic paraplegia, Optic atrophy, Cereb...	OMIM:614969
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Paresthesia, Muscular edema	ORPHA:3165
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac...	ORPHA:98853
Familial Cervical Artery Dissection	Paresthesia, Facial palsy, Paralysis	ORPHA:36382
Neurogenic Arthrogryposis Multiplex Congenita	Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ...	ORPHA:1143
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu...	OMIM:616867
Canavan Disease	Blindness, Visual impairment	ORPHA:141
Nemaline Myopathy 10	Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,...	OMIM:616165
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration	OMIM:615919
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:2597
Extensor Tendons Of Finger Anomalies	Skeletal muscle atrophy, Camptodactyly of finger	ORPHA:3294
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ...	ORPHA:209335
Herpes Simplex Virus Stromal Keratitis	Blindness, Reduced visual acuity	ORPHA:137599
Mitochondrial Complex I Deficiency, Nuclear Type 4	Blindness	OMIM:618225
Mitochondrial Complex I Deficiency, Nuclear Type 11	Decreased activity of mitochondrial complex I, Kyphosis, Failure to thrive, Scoliosis	OMIM:618234
Myopathy, Centronuclear, 2	Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis	OMIM:255200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Foix-Alajouanine Syndrome	Hyperintensity of MRI T2 signal of the spinal cord, Distal lower limb amyotrophy, Somatic sensory...	ORPHA:79093
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Joubert Syndrome 4	Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Thic...	OMIM:609583
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Cryptorchidism, Kyphosis, Cerebral atrophy, Scoliosis	OMIM:619797
Kanzaki Disease	Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment	OMIM:609242
Gm1 Gangliosidosis	Ataxia, Hyperlordosis, Tremor, Kyphosis, Unsteady gait, Optic atrophy, Abnormal form of the verte...	ORPHA:354
Retinitis Pigmentosa 10	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:180105
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy	ORPHA:324737
Retinitis Pigmentosa 89	Nyctalopia, Constriction of peripheral visual field	OMIM:618955
Leber Congenital Amaurosis 15	Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Hypermetropia...	OMIM:613843
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber...	OMIM:602771
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia	ORPHA:98764
Retinitis Pigmentosa 45	Nyctalopia, Peripheral visual field loss	OMIM:613767
Niemann-Pick Disease, Type C2	Neurofibrillary tangles, Spasticity, Ataxia, Cataplexy	OMIM:607625
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,...	OMIM:310300
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Decreased size of nerve terminals, ...	OMIM:608931
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Skeletal muscle atrophy, Limb muscle weakness, Hemolytic anemia, Paralysis	OMIM:612300
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Peroneal muscle...	OMIM:181405
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Myoclonic Epilepsy Of Lafora	Apraxia, Gait disturbance, Myoclonus, Lafora bodies	OMIM:254780
Lissencephaly 8	Appendicular spasticity, Skeletal muscle atrophy, Hypoplasia of the brainstem, Optic atrophy	OMIM:617255
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Babinski sign, Optic atrophy, Gait ataxia, H...	OMIM:620089
Congenital Microcoria	Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision	ORPHA:566
Microphthalmia-Brain Atrophy Syndrome	Blindness	ORPHA:77299
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Blindness	OMIM:250940
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Flexion contracture, Loss of ability to walk...	OMIM:300243
Osteoporosis-Pseudoglioma Syndrome	Congenital blindness, Severely reduced visual acuity, Visual acuity light perception with project...	ORPHA:2788
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Small for gestational age, Cryptorchidism, Kyphosis, Hypertonia, Scoliosis, Spast...	ORPHA:352490
Sialidosis Type 2	Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Flexion contracture	ORPHA:87876
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Poor coordination, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Gait ata...	OMIM:616878
Secondary Syringomyelia	Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Paraplegia, Sens...	ORPHA:99857
Peroxisome Biogenesis Disorder 9B	Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity	OMIM:614879
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Inability to walk, Babinski...	OMIM:617339
Vitreoretinochoroidopathy	Blindness, Dyschromatopsia, Color vision defect, Nyctalopia	OMIM:193220
Mitochondrial Complex I Deficiency, Nuclear Type 23	Skeletal muscle atrophy	OMIM:618244
Usher Syndrome Type 2	Myopia, Scotoma, Visual loss, Nyctalopia, Hemianopia	ORPHA:231178
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Flexion contracture, Sk...	ORPHA:682
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Blindness-Scoliosis-Arachnodactyly Syndrome	Visual loss, Blindness	ORPHA:171844
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Nyctalopia	OMIM:616108
Tubulinopathy-Associated Dysgyria	Oculomotor apraxia, Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology	ORPHA:467166
Albinism, Oculocutaneous, Type Vii	Photophobia, High hypermetropia, Reduced visual acuity	OMIM:615179
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia, Camptodactyly	ORPHA:444051
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ...	OMIM:620161
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Difficu...	ORPHA:254875
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Postural tremor, Corpus callosum atrophy, Babinski sign, Tetraplegia, Ti...	ORPHA:447760
Allergic Bronchopulmonary Aspergillosis	Cerebral cortical atrophy, Weight loss	ORPHA:1164
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Bone-marrow foam cells, Microcytic anemia, Rigidity, Inability to walk, ...	OMIM:257200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Ataxia, Cachexia	ORPHA:1933
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ...	OMIM:618443
Fetal Akinesia Deformation Sequence 4	Cryptorchidism, Kyphosis, Short neck	OMIM:618393
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Abnormal g...	ORPHA:221098
Snakebite Envenomation	Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis, ...	ORPHA:449285
Retinitis Pigmentosa 25	Photophobia, Nyctalopia, Constriction of peripheral visual field	OMIM:602772
Sarcosinemia	Congenital blindness	ORPHA:3129
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Inability to walk...	ORPHA:2912
Choreoacanthocytosis	Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Caudate...	OMIM:200150
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Myopia, Nyctalopia	ORPHA:1390
Tay-Sachs Disease	Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Lower l...	ORPHA:845
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Obesity, Scoliosis	ORPHA:276630
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis	OMIM:614198
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Skeletal muscle atrophy, Corpus callosum atrophy, Tetraplegia, Opisthotonus, ...	OMIM:619272
Retinal Dystrophy With Or Without Macular Staphyloma	Photophobia, Central scotoma, Nyctalopia, Reduced visual acuity	OMIM:617547
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Skeletal muscle atrophy	OMIM:614932
Cach Syndrome	Blindness, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea	ORPHA:135
Ethylmalonic Encephalopathy	Ataxia, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Abnormality of extrapyr...	ORPHA:51188
Mcdonough Syndrome	Cryptorchidism, Cachexia, Kyphosis, Scoliosis	ORPHA:2471
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Ataxia, Rigidity, Optic atrophy, Myopathy, Hypertonia, Muscular dystroph...	ORPHA:559
Sialidosis Type 1	Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Slurred speech, Abnormal form of t...	ORPHA:812
Retinitis Pigmentosa 41	Nyctalopia, Peripheral visual field loss, Severely reduced visual acuity	OMIM:612095
Juvenile Neuronal Ceroid Lipofuscinosis	Visual loss, Large central visual field defect, Blindness	ORPHA:79264
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy, Truncal ataxia	OMIM:613612
Retinitis Pigmentosa 43	Nyctalopia, Peripheral visual field loss, Visual impairment	OMIM:613810
Wieacker-Wolff Syndrome, Female-Restricted	Facial palsy, Short neck, Kyphosis, Inability to walk, Scoliosis, Brain atrophy, Oculomotor aprax...	OMIM:301041
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Neurodegeneration	OMIM:620210
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spastic dysarthria, ...	ORPHA:95433
Acute Zonal Occult Outer Retinopathy	Myopia, Constriction of peripheral visual field, Blind-spot enlargment, Scotoma, Photopsia, Visua...	ORPHA:284454
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Megalencephaly, Microcephaly, Hypoplasia of the pons, Perisylvian p...	ORPHA:280195
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Periodic paralysis	OMIM:613345
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ata...	OMIM:617193
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Ataxia, Chorea, Cerebral atrophy, Gait ataxia, Irritability, Neurodegeneration	OMIM:618321
Reticular Dysgenesis	Failure to thrive, Abnormality of mitochondrial metabolism, Weight loss	ORPHA:33355
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Mohr-Tranebjaerg Syndrome	Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, ...	ORPHA:52368
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Nathalie Syndrome	Skeletal muscle atrophy	OMIM:255990
Retinitis Punctata Albescens	Central scotoma, Nyctalopia, Progressive visual field defects, Peripheral visual field loss, Phot...	ORPHA:52427
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis	OMIM:618512
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss	ORPHA:86893
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Caudate atrophy, Self-mutilation of tongue and lips...	ORPHA:2388
Lead Poisoning	Somatic sensory dysfunction, Decreased female libido, Abnormality of the menstrual cycle, Oligozo...	ORPHA:330015
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Unsteady gait, Midline brainstem ...	OMIM:617542
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok...	OMIM:614381
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner...	ORPHA:447788
Exudative Vitreoretinopathy 1	Blindness, Reduced visual acuity, Vitreous floaters	OMIM:133780
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap...	ORPHA:2926
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Blindness	OMIM:618731
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Retinitis Pigmentosa 56	Nyctalopia, Reduced visual acuity, Visual field defect	OMIM:613581
Schaaf-Yang Syndrome	Failure to thrive in infancy, Cryptorchidism, Kyphosis, Inability to walk, Obesity, Hypogonadism,...	OMIM:615547
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l...	ORPHA:94080
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia, Weight loss	ORPHA:100024
Adenylosuccinase Deficiency	Cerebellar atrophy, Skeletal muscle atrophy, Inability to walk, Cerebral atrophy, Opisthotonus, G...	OMIM:103050
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Neutropenia, Agene...	ORPHA:506
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Elevated hemoglobin A1c, Babinski sign, Cerebral atrophy, Sensory ataxia, Gai...	OMIM:616192
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Abnormal dense granules, Tremor, Thrombocytope...	OMIM:214500
Moynahan Syndrome	Cachexia	ORPHA:2574
Wolfram Syndrome, Mitochondrial Form	Blindness	OMIM:598500
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Metatropic Dysplasia	Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ...	OMIM:156530
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Rhabdomyolysis, Periodic paralysis	OMIM:188580
Hypomelanosis Of Ito	Kyphosis, Scoliosis, Cerebral atrophy	OMIM:300337
Retinitis Pigmentosa 13	Nyctalopia, Constriction of peripheral visual field	OMIM:600059
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ...	ORPHA:280210
Familial Exudative Vitreoretinopathy	Reduced visual acuity, Severely reduced visual acuity, Blindness, Vitreous floaters	ORPHA:891
Hypotrichosis With Juvenile Macular Degeneration	Blindness	ORPHA:1573
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Ataxia, Cachexia, Myopathy, Distal arthrogryposis	ORPHA:42
Tsh-Secreting Pituitary Adenoma	Bitemporal hemianopia, Blindness, Abnormal visual field test, Hypogonadotropic hypogonadism, Decr...	ORPHA:91347
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Blindness	OMIM:236270
Achromatopsia 2	Nyctalopia, Reduced visual acuity, Photophobia, Hemeralopia, Achromatopsia	OMIM:216900
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Weight loss, Distal amyotrophy, Difficulty wal...	OMIM:164310
Winchester Syndrome	Kyphosis	OMIM:277950
Bardet-Biedl Syndrome 20	Constriction of peripheral visual field, Bilateral cryptorchidism, Nyctalopia, Hypermetropia, Hem...	OMIM:619471
Classic Hodgkin Lymphoma	Splenomegaly, Ataxia, Bone marrow hypocellularity, Weight loss	ORPHA:391
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Cryptorchidism, Kyphosis, Gait disturbance, Scoliosis, Difficulty ...	ORPHA:90322
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Limb joint contracture, Cachexia, Babinski sign, Flexion contracture, Facial ...	OMIM:618186
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Optic atrophy, Abnormal pyramidal sign, Spastic tetraplegia, Joint contr...	OMIM:615419
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Myelin outfoldings, Hand muscle weakness, Tremor, Inabil...	ORPHA:99956
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Cataract 17, Multiple Types	Reduced visual acuity, Amblyopia	OMIM:611544
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis	OMIM:615834
Neuraminidase Deficiency	Skeletal muscle atrophy, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Slurred sp...	OMIM:256550
Joubert Syndrome 7	Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Oculomotor apraxia, Molar tooth sign on...	OMIM:611560
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Scoliosis	OMIM:618484
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ...	OMIM:601650
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Facial diplegi...	ORPHA:171436
Congenital Bile Acid Synthesis Defect Type 1	Nyctalopia	ORPHA:79301
Vitreoretinopathy, Neovascular Inflammatory	Blindness	OMIM:193235
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Canavan Disease	Blindness, Visual impairment	OMIM:271900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy	OMIM:613723
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Abnormal testis morphology, Scoliosis	ORPHA:1548
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Failure to thrive	ORPHA:536516
Rhabdoid Tumor	Hemiplegia, Cerebral palsy, Weight loss	ORPHA:69077
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Ck Syndrome	Kyphosis, Slender build, Scoliosis, Hyperlordosis	OMIM:300831
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal...	OMIM:607155
Intellectual Developmental Disorder And Retinitis Pigmentosa	Nyctalopia, Reduced visual acuity	OMIM:618195
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Abnormal brainstem MRI signal intensity, Babinski sign, Spastic paraplegia, Cerebral atro...	ORPHA:83629
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
L1 Syndrome	Skeletal muscle atrophy, Aqueductal stenosis, Hemiplegia/hemiparesis, Gait disturbance, Spasticity	ORPHA:275543
Aica-Ribosiduria	Congenital blindness	ORPHA:250977
X-Linked Creatine Transporter Deficiency	Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia	ORPHA:52503
Attrv30M Amyloidosis	Impotence, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Late-Onset Retinal Degeneration	Red-green dyschromatopsia, Visual loss, Nyctalopia, Photophobia, Abnormal best corrected visual a...	ORPHA:67042
Keratoconus 9	Reduced visual acuity	OMIM:617928
Erythrokeratodermia Variabilis	Abnormal testis morphology, Weight loss	ORPHA:317
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis	ORPHA:2617
Wieacker-Wolff Syndrome	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Scoliosis, Apraxia, Oculomot...	OMIM:314580
Eales Disease	Reduced visual acuity, Blindness, Photopsia, Vitreous floaters	ORPHA:40923
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ...	ORPHA:206436
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Unsteady gait, Op...	ORPHA:35069
Alpha-N-Acetylgalactosaminidase Deficiency	Blindness	ORPHA:3137
Ophthalmomandibulomelic Dysplasia	Blindness	ORPHA:2741
Wilson Disease	Thrombocytopenia, Splenomegaly, Increased body weight, Weight loss, Clumsiness, Proximal muscle w...	ORPHA:905
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling	OMIM:618250
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Photophobia, Myopia, Nyctalopia, Visual loss	ORPHA:5
Slc35A2-Cdg	Cerebellar atrophy, Cerebral white matter atrophy, Abnormal midbrain morphology, Spastic tetrapar...	ORPHA:356961
Peripheral Primitive Neuroectodermal Tumor	Torticollis, Somatic sensory dysfunction, Spinal cord tumor, Weight loss, Lower limb muscle weakn...	ORPHA:370348
Congenital Myopathy 19	Skeletal muscle atrophy, Congenital contracture, Facial hypotonia, Gait disturbance	OMIM:618578
Infantile Refsum Disease	Nyctalopia, Constriction of peripheral visual field, Visual impairment	ORPHA:772
Alstrom Syndrome	Blindness, Hypertriglyceridemia, Constriction of peripheral visual field, Hypergonadotropic hypog...	OMIM:203800
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Skeletal muscle atrophy, Failure to thrive, Agenesis of corpus callosum	OMIM:618603
Familial Acute Necrotizing Encephalopathy	Rigidity, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Spastic tetrapl...	ORPHA:88619
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Short neck, Kyphosis, Failure to thrive, Global brain atrophy	OMIM:608776
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Mitochondrial swelling	OMIM:615595
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Partial agenesis of the corpus callosum, Vocal cord paralysis, Optic atro...	ORPHA:500144
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Ciliary Dyskinesia, Primary, 12	Reduced sperm motility, Immotile sperm	OMIM:612650
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis	OMIM:612164
Isolated Atp Synthase Deficiency	Blindness, Hypogonadism	ORPHA:254913
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy	ORPHA:300179
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Periodic paralysis	OMIM:170400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Tip-toe gait, Gait d...	ORPHA:98855
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Late Infantile Neuronal Ceroid Lipofuscinosis	Visual loss, Myopia, Blindness, Reduced visual acuity	ORPHA:168491
Focal Myositis	Weight loss	ORPHA:48918
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Corneal Dystrophy, Posterior Polymorphous, 4	Reduced visual acuity	OMIM:618031
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Ataxia, Limb joint contracture, Spl...	OMIM:301072
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy	ORPHA:79327
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive	OMIM:234250
Albers-Schönberg Osteopetrosis	Blindness, Visual impairment	ORPHA:53
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Waddling gait	ORPHA:98896
Sjögren-Larsson Syndrome	Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Ophthalmomandibulomelic Dysplasia	Blindness	OMIM:164900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Immotile sperm	OMIM:613807
Mucopolysaccharidosis, Type Ii	Papilledema, Short neck, Kyphosis, Neurodegeneration, Cervical cord compression	OMIM:309900
Late-Infantile/Juvenile Krabbe Disease	Visual loss, Blindness, Visual impairment	ORPHA:206443
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Progressive night blindness, Constriction of peripheral visual field, Progressive visual loss	ORPHA:436245
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls	ORPHA:75840
Anaplastic Thyroid Carcinoma	Weight loss, Vocal cord paralysis, Abnormal skeletal muscle morphology	ORPHA:142
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Small for gestational age, Cerebral atrophy,...	OMIM:615471
Cinca Syndrome	Blindness, Elevated circulating C-reactive protein concentration, Visual impairment	ORPHA:1451
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Thymic Carcinoma	Diaphragmatic paralysis, Weight loss	ORPHA:99868
Dilated Cardiomyopathy With Ataxia	Lower limb spasticity, Ataxia, Optic atrophy, Hypochromic microcytic anemia, Normochromic microcy...	ORPHA:66634
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Spina bifida occulta, Gait disturbance	ORPHA:2840
Triosephosphate Isomerase Deficiency	Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Optic disc pallo...	OMIM:615512
Alexander Disease	Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Chorea, Tremor, Abnormal pyram...	ORPHA:58
Pyruvate Dehydrogenase E1-Alpha Deficiency	Blindness	ORPHA:79243
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Wei...	OMIM:619487
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Sideroblastic anemia, Rhabdomyolysis, Myopathy, Leukopenia, Increased in...	OMIM:255125
Lissencephaly 9 With Complex Brainstem Malformation	Involuntary movements, Hypoplasia of the pons, Hypoplastic anterior commissure, Hypoplasia of the...	OMIM:618325
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Cryptorchidism, Kyphosis, Scoliosis, Short neck	ORPHA:178148
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Friedreich Ataxia 2	Impaired vibratory sensation, Incoordination, Ataxia, Abnormal medulla oblongata morphology, Babi...	OMIM:601992
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Hypogonadism, Scoliosis, Decre...	ORPHA:85293
Mccune-Albright Syndrome	Increased circulating cortisol level, Blindness	OMIM:174800
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Hypertonia, Ataxia	ORPHA:31
Polyarteritis Nodosa	Polyneuritis, Sensory axonal neuropathy, Weight loss	ORPHA:767
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Follicular Lymphoma	Weight loss	ORPHA:545
Mast Cell Sarcoma	Weight loss	ORPHA:66661
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Ciliary Dyskinesia, Primary, 26	Infertility, Reduced sperm motility	OMIM:615500
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number	ORPHA:263297
Holocarboxylase Synthetase Deficiency	Ataxia, Thrombocytopenia, Weight loss	ORPHA:79242
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Skeletal muscle atrophy, Spasticity, Temporal cortical atrophy	OMIM:618862
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Kyphoscoliosis, Kyphosis, Difficulty walking, Scoliosis	OMIM:300280
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Spinal muscular atrophy, type I, with congenital bone fractures	Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration...	OMIM:271225
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Harrod Syndrome	Cryptorchidism, Kyphosis, Scoliosis, Failure to thrive, Cerebral cortical atrophy	ORPHA:2115
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Widening of cervical spinal canal	OMIM:253310
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contractu...	ORPHA:371364
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness	OMIM:615980
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis, Failure to thrive, Slender build	OMIM:254090
Pleural Mesothelioma	Weight loss	ORPHA:50251
Retinitis Pigmentosa 86	Nyctalopia, Progressive visual loss	OMIM:618613
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, ...	ORPHA:496641
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cryptorchidism, Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity, Sl...	ORPHA:364028
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Acute Disseminated Encephalomyelitis	Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal brainstem MRI signal intensi...	ORPHA:83597
Joubert Syndrome 35	Nyctalopia, Progressive visual loss	OMIM:618161
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Fasciculations, Brain atrophy, Cerebral...	OMIM:620327
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro...	ORPHA:507
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Babinski sign, Cerebral atrophy, Hypertonia, Spasticity, Failure to thri...	OMIM:615802
Autosomal Recessive Spastic Paraplegia Type 20	Speech apraxia, Impaired vibratory sensation, Skeletal muscle atrophy, Babinski sign, Slurred spe...	ORPHA:101000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae	ORPHA:2522
Cohen Syndrome	Myopia, Nyctalopia, Reduced visual acuity, Visual impairment	OMIM:216550
Xfe Progeroid Syndrome	Blindness, Premature ovarian insufficiency, Hypoalbuminemia, Visual impairment	OMIM:610965
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy	ORPHA:2013
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Kyphosis, Scoliosis, Spina bifida occulta, Cerebral cortical atrophy	OMIM:618291
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertonia, Opisthotonus	OMIM:616896
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Obesity, Scoliosis	OMIM:300602
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv...	OMIM:253010
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata...	OMIM:618056
Sandhoff Disease	Skeletal muscle atrophy, Exaggerated startle response, Ataxia, Impaired temperature sensation, He...	OMIM:268800
Trisomy 20P	Incoordination, Spina bifida, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebra...	ORPHA:261318
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer...	ORPHA:3226
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Pfapa Syndrome	Weight loss	ORPHA:42642
Developmental Malformations-Deafness-Dystonia Syndrome	Blindness	ORPHA:79107
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy	OMIM:245400
Brachyolmia Type 3	Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis	OMIM:113500
Refsum Disease	Abnormality of vision, Nyctalopia, Progressive visual loss, Visual impairment	ORPHA:773
Rodrigues Blindness	Blindness	OMIM:268320
Gangliocytoma	Abnormal brainstem morphology, Spinal cord tumor, Syringomyelia, Paresthesia, Ganglioneuroma	ORPHA:251937
Abetalipoproteinemia	Blindness, Scotoma, Nyctalopia, Hypoalbuminemia, Progressive visual loss, Abnormal circulating ap...	ORPHA:14
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Kyphosis, Unsteady gait, Optic atrophy, Obesity, Scoliosis	OMIM:618493
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Blindness, High myopia	OMIM:220500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Ciliary Dyskinesia, Primary, 11	Reduced sperm motility	OMIM:612649
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Tetraplegia, Weight...	ORPHA:79102
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Anemia	ORPHA:371
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Oculomotor apraxia, Skeletal muscle atrophy	OMIM:619759
Renpenning Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:3242
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Poems Syndrome	Papilledema, Weight loss, Paresthesia, Hypogonadism, Hyperesthesia, Erectile dysfunction, Sclerot...	ORPHA:2905
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:276621
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Decreased activity of mi...	OMIM:620351
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Cerebrooculonasal Syndrome	Blindness	ORPHA:66625
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Cranioectodermal Dysplasia 4	Nyctalopia, Hypermetropia, Visual impairment	OMIM:614378
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis	ORPHA:3454
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Optic nerve hypoplasia, Facial palsy, Kyphosis, Optic atrophy, Hypogonadis...	ORPHA:261349
X-Linked Intellectual Disability, Seemanova Type	Small for gestational age, Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive sp...	ORPHA:85323
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Myopia, Nyctalopia, High myopia	OMIM:617763
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Abnormality of neutrophils, Abnormal brainstem morphology, Hypertonia, Hypochromic anemia	ORPHA:2720
Emanuel Syndrome	Sacral dimple, Torticollis, Cryptorchidism, Kyphosis, Cerebral atrophy, Scoliosis, Failure to thrive	OMIM:609029
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Blindness	OMIM:560000
Joubert Syndrome 2	Ataxia, Brainstem dysplasia, Optic disc coloboma, Hypoplasia of the brainstem, Oculomotor apraxia...	OMIM:608091
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coc...	OMIM:300966
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc...	ORPHA:98850
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Severe X-Linked Intellectual Disability, Gustavson Type	Blindness	ORPHA:3078
Kennedy Disease	Skeletal muscle atrophy, Gait disturbance	ORPHA:481
Majeed Syndrome	Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contracture, Hypochr...	ORPHA:77297
Plasminogen Deficiency, Type I	Blindness, Decreased level of plasminogen	OMIM:217090
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Intention tremor	OMIM:619708
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness	ORPHA:713
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Camurati-Engelmann Disease	Waddling gait, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Optic atrophy, Abnormalit...	ORPHA:1328
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Urban-Rogers-Meyer Syndrome	Short neck, Cryptorchidism, Kyphosis, Obesity, Hypogonadism	ORPHA:3409
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Progressive flexion contractures	ORPHA:2028
Chromosome 3Q13.31 Deletion Syndrome	Cryptorchidism, Kyphosis, Decreased testicular size	OMIM:615433
Spinocerebellar Ataxia Type 7	Blindness, Visual loss, Reduced visual acuity, Photophobia, Hemeralopia	ORPHA:94147
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Eosinophilia, Hemiplegia/hemiparesis, Weight loss, Central nervous system degeneration,...	ORPHA:183
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss	ORPHA:424
Melorheostosis	Skeletal muscle atrophy, Failure to thrive	ORPHA:2485
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Blindness	OMIM:601499
15Q24 Microdeletion Syndrome	Small for gestational age, Cryptorchidism, Kyphosis, Obesity, Scoliosis, Failure to thrive	ORPHA:94065
Tay-Sachs Disease	Blindness	OMIM:272800
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy, Spastic paraplegia	OMIM:105300
Bone Dysplasia, Lethal Holmgren Type	Weight loss, Failure to thrive, Short neck	ORPHA:1842
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Camurati-Engelmann Disease, Type 2	Hip contracture, Skeletal muscle atrophy, Waddling gait, Knee flexion contracture	OMIM:606631
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp...	OMIM:203700
Micro Syndrome	Cryptorchidism, Kyphosis, Optic atrophy, Scoliosis, Spasticity, Cerebral cortical atrophy	ORPHA:2510
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Hypergonadotropic hypogonadism, Trem...	OMIM:212065
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis	OMIM:251450
Severe Early-Childhood-Onset Retinal Dystrophy	Myopia, Nyctalopia, Blurred vision, Reduced visual acuity, Peripheral visual field loss, Photopho...	ORPHA:364055
Ciliary Dyskinesia, Primary, 15	Infertility, Immotile sperm	OMIM:613808
Enhanced S-Cone Syndrome	Hemeralopia, Nyctalopia	OMIM:268100
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Limb joint contracture, Upper motor neuron dysfunction	OMIM:612079
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs	ORPHA:565899
Joubert Syndrome 1	Optic disc pallor, Hemifacial spasm, Ataxia, Brainstem dysplasia, Optic disc coloboma, Macrogloss...	OMIM:213300
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis	ORPHA:684
Liposarcoma	Paresthesia, Weight loss	ORPHA:69078
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Hepatosplenomegal...	ORPHA:367
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of vision, Blindness	ORPHA:1806
Diastrophic Dysplasia	Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical ...	ORPHA:628
Granular Corneal Dystrophy Type Ii	Reduced visual acuity, Visual impairment, Blurred vision	ORPHA:98963
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Tremor, Abnormality of the spleen, Syringomyelia, Failure to thrive	ORPHA:94063
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven...	OMIM:615418
Lateral Meningocele Syndrome	Short neck, Hyperlordosis, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Dural...	ORPHA:2789
Senior-Loken Syndrome 3	Visual loss, Congenital blindness	OMIM:606995
Alveolar Echinococcosis	Liver abscess, Ataxia, Eosinophilia, Weight loss, Hemiparesis, Abnormal skeletal muscle morpholog...	ORPHA:284
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness	OMIM:603387
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Intention tremor, Atax...	OMIM:619475
Acquired Hypertrichosis Lanuginosa	Macroglossia, Weight loss	ORPHA:2221
Cap Polyposis	Weight loss	ORPHA:160148
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Thrombocytopenia, Weight loss, Neutropenia, Failure to thr...	ORPHA:47
Osteopetrosis, Autosomal Recessive 1	Blindness, Visual impairment	OMIM:259700
Giant Cell Arteritis	Optic atrophy, Paresthesia, Ataxia, Weight loss	ORPHA:397
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Blindness, Amblyopia, Cryptorchidism, Visual loss, Hypogonadism	ORPHA:2250
Lethal Ataxia With Deafness And Optic Atrophy	Blindness, Visual impairment	ORPHA:1187
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy	ORPHA:85283
Hermansky-Pudlak Syndrome 1	Photophobia, Severely reduced visual acuity, Blindness	OMIM:203300
Maternal Uniparental Disomy Of Chromosome 4	Nyctalopia, Visual field defect, Elevated circulating creatine kinase concentration, Hypocholeste...	ORPHA:96180
Congenital Disorder Of Glycosylation, Type Iio	Splenomegaly, Skeletal muscle atrophy, Hepatosplenomegaly	OMIM:616828
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Optic atrophy, Abnormal pyramida...	OMIM:617527
Ciliary Dyskinesia With Defective Radial Spokes	Immotile sperm	OMIM:242670
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Cachexia	ORPHA:2774
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cerebral degeneration,...	OMIM:230500
Bullous Pemphigoid	Weight loss	ORPHA:703
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Coffin-Lowry Syndrome	Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Sco...	ORPHA:192
Pituitary Dermoid And Epidermoid Cysts	Diplopia, Reduced visual acuity, Oligozoospermia, Sudden loss of visual acuity, Oligomenorrhea, H...	ORPHA:91351
Ruvalcaba Syndrome	Cryptorchidism, Kyphosis, Scoliosis	OMIM:180870
Joubert Syndrome With Oculorenal Defect	Blindness, Visual impairment	ORPHA:2318
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Subcortical cerebral atrophy, Hy...	ORPHA:2396
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Inability to wa...	ORPHA:70
Gitelman Syndrome	Ataxia, Paralysis, Rhabdomyolysis, Paresthesia, Failure to thrive	OMIM:263800
Becker Muscular Dystrophy	Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking	ORPHA:98895
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Cryptorchidism, Kyphosis, Hypogonadism, Gait disturbance, Scoliosis, Failure to thrive	ORPHA:500055
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Abnormal brainstem morphology	ORPHA:163961
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Cryptorchidism, Kyphosis, Abnormal form of t...	ORPHA:2311
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Facial palsy, Bilateral vestibular schwannoma, Myelopathy, Unsteady ...	ORPHA:637
Beta-Ketothiolase Deficiency	Ataxia, Leukocytosis, Weight loss, Extrapyramidal dyskinesia, Thrombocytosis, Spasticity	ORPHA:134
Ciliary Dyskinesia, Primary, 22	Infertility, Reduced sperm motility	OMIM:615444
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Abnormal brainstem MRI signal intensity, Ina...	ORPHA:258
Severe Congenital Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171430
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Chorea, Limb ataxia, ...	ORPHA:48818
Peritoneal Cystic Mesothelioma	Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss	ORPHA:168816
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Neurodegeneration, Biconcave vertebral ...	OMIM:607014
Stickler Syndrome, Type I	Myopia, Blindness	OMIM:108300
Osteosarcoma	Weight loss	ORPHA:668
Cockayne Syndrome	Progressive gait ataxia, Hypertonia, Intention tremor, Ataxia, Cryptorchidism, Gait disturbance, ...	ORPHA:191
47,Xyy Syndrome	Male infertility, Macroorchidism, Cryptorchidism, Oligozoospermia, Azoospermia, Congenital statio...	ORPHA:8
Farber Disease	Skeletal muscle atrophy, Paraparesis, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, ...	ORPHA:333
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Sézary Syndrome	Tremor, Skeletal muscle atrophy, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:3162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Optic atrophy, Calf m...	OMIM:253800
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Pantothenate Kinase-Associated Neurodegeneration	Blindness, Nyctalopia, Peripheral visual field loss, Visual field defect, Visual impairment	ORPHA:157850
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Dec...	ORPHA:98915
Trisomy 13	Cryptorchidism, Kyphosis, Optic atrophy, Scoliosis	ORPHA:3378
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Optic disc pallor, Ataxia, Babinski sign, Flexion contracture, Tetraparesis	OMIM:300232
Cockayne Syndrome A	Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials,...	OMIM:216400
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Flexion contracture, Cachexia, Weight loss	ORPHA:1979
Schwartz-Jampel Syndrome, Type 1	Waddling gait, Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps...	OMIM:255800
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Hypoesthesia, Ragged-red muscle fibers, Distal sensory impairment, Weight loss, Distal ...	OMIM:603041
4Q21 Microdeletion Syndrome	Tremor, Kyphosis, Scoliosis, Short neck	ORPHA:238750
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Visual Impairment And Progressive Phthisis Bulbi	Reduced visual acuity, Hypermetropia	OMIM:618283
Celiac Disease, Susceptibility To, 1	Failure to thrive, Ataxia, Infertility, Weight loss	OMIM:212750
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Corpus callosum atrophy, Cryptorchidism, Kyphosis, Cerebral atrophy	OMIM:619244
Osteopetrosis, Autosomal Recessive 2	Blindness	OMIM:259710
Lateral Meningocele Syndrome	Vertebral fusion, Tethered cord, Short neck, Cryptorchidism, Kyphosis, Dural ectasia, Syringomyel...	OMIM:130720
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy	ORPHA:3239
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nyctalopia	OMIM:615630
Rhizomelic Chondrodysplasia Punctata, Type 5	Skeletal muscle atrophy, Broad-based gait, Contractures of the large joints	OMIM:616716
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Gait ataxia, Scoliosis, C...	OMIM:617011
Isolated Permanent Neonatal Diabetes Mellitus	Peripheral axonal neuropathy, Ataxia, Weight loss, Apraxia, Failure to thrive	ORPHA:99885
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Whipple Disease	Myositis, Ataxia, Cachexia, Splenomegaly, Abnormal pyramidal sign, Myoclonus, Anemia	ORPHA:3452
3-Hydroxy-3-Methylglutaric Aciduria	Ataxia, Spastic hemiparesis, Leukocytosis, Weight loss, Leukopenia, Myoclonus, Thrombocytosis, Sp...	ORPHA:20
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Arthrogryposis, Distal, Type 5	Kyphosis, Hypertonia, Scoliosis	OMIM:108145
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Takayasu Arteritis	Anemia, Weight loss	ORPHA:3287
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,...	ORPHA:29072
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia, Paralysis	ORPHA:83601
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal midbra...	ORPHA:68
Edict Syndrome	Reduced visual acuity, Visual impairment	OMIM:614303
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita, Hepatosplenomegaly	OMIM:232500
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Spinal Arteriovenous Metameric Syndrome	Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Lynch Syndrome	Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Pa...	ORPHA:144
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Progressive spastic quadriplegia...	ORPHA:521426
Desmoplastic Small Round Cell Tumor	Cachexia, Weight loss	ORPHA:83469
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Spasticity, Optic atrophy, Ataxia	ORPHA:220295
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy	ORPHA:2400
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia, Short neck	ORPHA:1438
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy	OMIM:614300
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Hypogonadism, Short neck	ORPHA:2983
Foodborne Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:228371
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Skeletal muscle atrophy, Abnormal peripheral nerve morphology by anatomical site, Steppage gait, ...	ORPHA:168563
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p...	ORPHA:508533
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Small for gestational age, Cryptorchidism, Kyphosis, Gait disturbance, Scolios...	ORPHA:464311
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy	ORPHA:970
Cancer-Associated Retinopathy	Constriction of peripheral visual field, Photopsia, Testicular neoplasm, Visual loss, Central sco...	ORPHA:71505
Crisponi Syndrome	Kyphosis, Hypertonia, Scoliosis	ORPHA:1545
Myopathy Due To Myoadenylate Deaminase Deficiency	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Microcephaly 20, Primary, Autosomal Recessive	Blindness	OMIM:617914
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy,...	ORPHA:1344
Glioblastoma	Paralysis	ORPHA:360
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Obesity, Scoliosis, Short neck	ORPHA:3191
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Joint contracture	OMIM:615704
Felty Syndrome	Splenomegaly, Weight loss, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphocyte ...	ORPHA:47612
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Fetal And Neonatal Alloimmune Thrombocytopenia	Blindness	ORPHA:853
Familial Colorectal Cancer Type X	Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Pa...	ORPHA:440437
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Optic Nerve Hypoplasia, Bilateral	Reduced visual acuity, Visual impairment	OMIM:165550
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Gait disturbance, Myopathy	ORPHA:85329
Wolf-Hirschhorn Syndrome	Sacral dimple, Tethered cord, Ataxia, Cryptorchidism, Kyphosis, Optic atrophy, Abnormal form of t...	ORPHA:280
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thr...	ORPHA:90045
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Momo Syndrome	Blindness	OMIM:157980
Joubert Syndrome 6	Blindness	OMIM:610688
White-Sutton Syndrome	Myopia, Blindness, Hypermetropia, Visual impairment	ORPHA:468678
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Nyctalopia, Visual field defect	ORPHA:166035
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
Dermatoosteolysis, Kirghizian Type	Nyctalopia	ORPHA:1657
Cockayne Syndrome B	Ataxia, Abnormal peripheral myelination, Small for gestational age, Abnormal auditory evoked pote...	OMIM:133540
Retinitis Pigmentosa And Erythrocytic Microcytosis	Myopia, Nyctalopia, Ring scotoma	OMIM:616959
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Lymphopenia, Leukopenia, Thrombocytosis, Failure to thrive, An...	OMIM:615934
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Pemphigus Vulgaris	Weight loss	ORPHA:704
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Hypoglycosylation of alpha-dystroglycan, Abnormal pons morphology, Abnormal brainstem morphology	ORPHA:370997
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy	OMIM:254950
Familial Cerebral Saccular Aneurysm	Hemiparesis, Abnormal brainstem morphology	ORPHA:231160
Polymyositis	Weight loss, Gait disturbance, Abnormal muscle fiber morphology	ORPHA:732
Fountain Syndrome	Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta	ORPHA:3219
Symptomatic Form Of Hfe-Related Hemochromatosis	Hypogonadotropic hypogonadism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy...	ORPHA:465508
Marshall-Smith Syndrome	Thoracic scoliosis, Failure to thrive, Optic nerve hypoplasia, Kyphoscoliosis, Bilateral cryptorc...	OMIM:602535
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Webb-Dattani Syndrome	Cryptorchidism, Blindness	OMIM:615926
Prader-Willi Syndrome	Failure to thrive in infancy, Hypogonadotropic hypogonadism, Impaired pain sensation, Cryptorchid...	OMIM:176270
Postpoliomyelitis Syndrome	Skeletal muscle atrophy, Fasciculations	ORPHA:2942
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Leukopenia, Neutropenia, Anemia	ORPHA:520
Refsum Disease, Classic	Nyctalopia	OMIM:266500
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Lower limb spasticity, Hemolytic anemia, Pancytopenia, Spastic tetraparesis, ...	OMIM:615846
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Progressive spastic paraplegia	ORPHA:2821
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Splenom...	OMIM:252010
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia, Weight loss	ORPHA:75566
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Kaposi Sarcoma	Weight loss	ORPHA:33276
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss	ORPHA:324964
Aica-Ribosuria Due To Atic Deficiency	Congenital blindness	OMIM:608688
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Broad-based gait, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thro...	ORPHA:2072
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia, Weight loss	ORPHA:2070
Solitary Bone Cyst	Abnormal spinal cord morphology, Muscular edema	ORPHA:83468
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy, Spina bifida occulta	ORPHA:230839
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Small for gestational age, Cryptorchidism, Kyphosis, Gait disturbance, Scolios...	ORPHA:464306
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Thymic Neuroendocrine Tumor	Weight loss, Carcinoid tumor, Pancreatic islet cell adenoma, Neuroendocrine neoplasm	ORPHA:97289
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Abnormal brainstem MRI signal intensity, Failure to thrive, Right v...	ORPHA:444013
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Meningioma	Bitemporal hemianopia, Decreased circulating cortisol level, Blindness, Hypogonadotropic hypogona...	ORPHA:2495
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Cryptorchidism, Kyphosis, Increased body weight, Primary amenorrh...	ORPHA:398069
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom...	OMIM:605373
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Cryptorchidism, Kyphosis, Short neck	ORPHA:3082
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Lowry-Wood Syndrome	Nyctalopia, Peripheral visual field loss	OMIM:226960
Distal Triplication 15Q	Large for gestational age, Kyphosis, Hydrocele testis, Syringomyelia, Scoliosis	ORPHA:314588
Sturge-Weber Syndrome	Abnormality of vision, Blindness, Hemianopia	ORPHA:3205
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive	ORPHA:476126
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Cryptorchidism, Male hypogonadism, Kyphosis, Scoliosis	OMIM:615381
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ...	OMIM:617799
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Wild Type Attr Amyloidosis	Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens...	ORPHA:330001
Nephroblastoma	Weight loss	ORPHA:654
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia	OMIM:607598
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
19P13.12 Microdeletion Syndrome	Short neck, Cryptorchidism, Kyphosis, Obesity, Scoliosis	ORPHA:254346
Familial Glucocorticoid Deficiency	Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Azoospermia, Leydig cell...	ORPHA:361
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia, Failure to thrive	OMIM:169400
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Weight loss	ORPHA:2902
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Gait ataxia, Difficult...	ORPHA:457359
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat...	OMIM:254940
Ruvalcaba Syndrome	Cryptorchidism, Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology	ORPHA:3121
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Carnitine Palmitoyl Transferase 1A Deficiency	Hemiplegia/hemiparesis, Skeletal muscle atrophy	ORPHA:156
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ataxia, Knee flexion contracture	ORPHA:435638
Momo Syndrome	Blindness	ORPHA:2563
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Kyphosis, Pain insensitivity, Scoliosis	OMIM:617061
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Scoliosis, Decreased testicular ...	ORPHA:813
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Cachexia, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Ab...	ORPHA:800
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity	OMIM:613454
Ciliary Dyskinesia, Primary, 19	Male infertility	OMIM:614935
Congenital Tufting Enteropathy	Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
Tetrasomy 12P	Cachexia, Short neck	ORPHA:884
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:2479
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Facial palsy, Scoliosis	OMIM:617143
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Spasticity, Scoliosis, Cerebral atrophy	OMIM:616449
Alkuraya-Kucinskas Syndrome	Hypoplasia of the brainstem, Kinked brainstem, Camptodactyly, Oculomotor apraxia, Arthrogryposis ...	OMIM:617822
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Cryptorchidism, Kyphosis, Hemivertebrae, Cerebral atrophy, Scoliosis, Spasticity	OMIM:301040
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Autosomal Dominant Optic Atrophy And Cataract	Blindness, Red-green dyschromatopsia, Central scotoma, Reduced visual acuity, Tritanomaly, Visual...	ORPHA:67036
Cystic Echinococcosis	Abscess, Eosinophilia, Weight loss, Splenic cyst, Abnormality of the diaphragm, Peritoneal abscess	ORPHA:400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Myopia, Blindness, Elevated circulating creatine kinase concentration, Cryptorchidism	OMIM:236670
Multiple Myeloma	Spinal cord compression, Vertebral compression fracture, Paresthesia, Weight loss	ORPHA:29073
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Photophobia, Blindness	OMIM:148210
3C Syndrome	Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis	ORPHA:7
Cogan Syndrome	Photophobia, Blindness, Reduced visual acuity	ORPHA:1467
Basel-Vanagaite-Smirin-Yosef Syndrome	Inability to walk, Kyphosis, Cerebral atrophy, Difficulty walking, Scoliosis, Spasticity	ORPHA:464738
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, L...	ORPHA:99867
Primary Intestinal Lymphangiectasia	Weight loss, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4...	ORPHA:90362
Cronkhite-Canada Syndrome	Anemia, Splenomegaly, Cachexia	ORPHA:2930
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Aganglionic megacolon, Obesity	ORPHA:261222
8P23.1 Microdeletion Syndrome	Cryptorchidism, Weight loss, Obesity, Short neck	ORPHA:251071
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Myopia, Blindness, Cryptorchidism	ORPHA:847
Duplication Of The Pituitary Gland	Lower limb spasticity, Abnormal midbrain morphology, Abnormality of masseter muscle, Decreased bo...	ORPHA:314621
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation...	ORPHA:368
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ...	ORPHA:15
Microphthalmia, Lenz Type	Hyperlordosis, Cryptorchidism, Kyphosis, Optic disc coloboma, Scoliosis	ORPHA:568
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ...	ORPHA:93360
Yao Syndrome	Weight loss	OMIM:617321
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Pain insensitivi...	OMIM:256810
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Weight loss, Oligozoospermia, Hypogonadism, Abnorma...	ORPHA:85450
Cohen Syndrome	Failure to thrive in infancy, Cryptorchidism, Kyphosis, Optic atrophy, Obesity, Scoliosis	ORPHA:193
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Rheumatoid Arthritis	Digital flexor tenosynovitis, Weight loss	OMIM:180300
Myotonia, Potassium-Aggravated	Skeletal muscle hypertrophy, Skeletal muscle atrophy	OMIM:608390
Fucosidosis	Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa...	ORPHA:349
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Cranial nerve compression, Bone marrow hypocellularity, O...	OMIM:131300
Persistent Hyperplastic Primary Vitreous	Blindness, Reduced visual acuity, Amblyopia	ORPHA:91495
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Asparagine Synthetase Deficiency	Blindness, Cerebral visual impairment	OMIM:615574
Trisomy 17P	Macroglossia, Skeletal muscle atrophy, Hypertonia, Flexion contracture	ORPHA:261290
Wolman Disease	Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells	ORPHA:75233
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Weight loss, Anemia	ORPHA:54251
Secondary Short Bowel Syndrome	Failure to thrive, Weight loss	ORPHA:95427
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Riddle Syndrome	Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination	ORPHA:420741
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Fle...	ORPHA:2020
Medullary Thyroid Carcinoma	Pheochromocytoma, Weight loss	ORPHA:1332
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Decreased circulating cortisol level, Increased circulating corticosterone leve...	ORPHA:90793
Borjeson-Forssman-Lehmann Syndrome	Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity	ORPHA:127
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy,...	ORPHA:268261
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Failure to thrive, Cerebral palsy, Opisthotonus	OMIM:210210
Bardet-Biedl Syndrome 1	Myopia, Nyctalopia, Reduced visual acuity, Peripheral visual field loss, Hypogonadism, Decreased ...	OMIM:209900
Aredyld Syndrome	Cachexia, Scoliosis	ORPHA:1133
Mucoepithelial Dysplasia, Hereditary	Photophobia, Blindness	OMIM:158310
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Kyphosis, Scoliosis	ORPHA:404440
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100080
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Flexion contracture	ORPHA:75496
Acrodermatitis Enteropathica	Failure to thrive, Cerebral cortical atrophy, Weight loss	ORPHA:37
2Q31.1 Microdeletion Syndrome	Short neck, Cryptorchidism, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scolios...	ORPHA:251014
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Kyphosis, Optic nerve hypoplasia, Scoliosis	ORPHA:261250
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy	ORPHA:269
Inhalational Botulism	Paralysis	ORPHA:254504
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Walker-Warburg Syndrome	Skeletal muscle atrophy, Optic atrophy, Muscular dystrophy, Aplasia/Hypoplasia involving the skel...	ORPHA:899
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h...	OMIM:614162
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Paresthesia, Thr...	ORPHA:71493
Listeriosis	Brain abscess, Somatic sensory dysfunction, Liver abscess, Ataxia, Abscess, Tremor, Abnormal brai...	ORPHA:533
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Decreased fertility, Scoliosis	ORPHA:2616
Igg4-Related Aortitis	Hypereosinophilia, Weight loss	ORPHA:449400
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Aganglionic megacolon, Hyperlordosis, Kyphosis, Pheochromocytoma, S...	OMIM:162300
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Marden-Walker Syndrome	Cryptorchidism, Kyphosis, Scoliosis, Short neck	OMIM:248700
Corneodermatoosseous Syndrome	Photophobia, Nyctalopia, Hemeralopia	ORPHA:3194
Cataract 49	Reduced visual acuity	OMIM:619593
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Paresthesia, Cachexia	OMIM:175500
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Unsteady gait, Scoliosis, Brain atroph...	ORPHA:90324
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy	OMIM:221350
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
Mosaic Trisomy 20	Vertebral fusion, Cryptorchidism, Abnormal spinal cord morphology, Kyphosis, Spinal canal stenosi...	ORPHA:1724
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Mucopolysaccharidosis Type 3	Myopia, Blindness, Constriction of peripheral visual field, Nyctalopia	ORPHA:581
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
19Q13.11 Microdeletion Syndrome	Cryptorchidism, Failure to thrive, Cachexia	ORPHA:217346
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Cryptorchidism, Kyphosis, Scoliosis, ...	OMIM:610443
Gm1 Gangliosidosis Type 1	Blindness	ORPHA:79255
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy	ORPHA:1486
Congenital Disorder Of Glycosylation, Type Iie	Cerebellar atrophy, Skeletal muscle atrophy, Splenomegaly, Cerebral atrophy, Failure to thrive	OMIM:608779
Weill-Marchesani Syndrome 1	Blindness, High myopia	OMIM:277600
Neuroendocrine Tumor Of The Rectum	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100082
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Aplasia/Hypoplasia of the ab...	ORPHA:2990
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Rhabdomyosarcoma, T lymphocytopenia, B lymphocytopenia, Neurodegener...	OMIM:251260
Cystinosis, Nephropathic	Male infertility, Blindness, Reduced visual acuity, Photophobia, Male hypogonadism, Visual impair...	OMIM:219800
Ménétrier Disease	Weight loss	ORPHA:2494
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Myopia, Blindness, Amblyopia, Visual loss, Abnormality of vision	ORPHA:2526
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Inability to walk, Rhabdomyolysis, Increased intramyoc...	ORPHA:26791
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Elbow flexion contracture, Decreased body weight	OMIM:616200
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Abnormality of Krebs cycle metabolism, Chorea, Gait ataxia, Hypertonia, Focal T2 hyperint...	ORPHA:255210
Renal Nutcracker Syndrome	Dyspareunia, Orthostatic hypotension, Dysmenorrhea, Weight loss, Abnormal autonomic nervous syste...	ORPHA:71273
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia	OMIM:617190
Cono-Spondylar Dysplasia	Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive	ORPHA:420794
Cryptococcosis	Abnormality of vision, Blindness, Prostatitis	ORPHA:1546
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Limb-girdle muscle weakness, Splenomegaly, Rhabdomyolysis, Increased bod...	ORPHA:79240
Dysosteosclerosis	Blindness	OMIM:224300
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of...	ORPHA:444072
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Obesity, Abdominal obesity, Oligomenorrhea, Biconcave vertebral bodies, Vertebral compr...	OMIM:219090
Rift Valley Fever	Paralysis, Paraparesis, Thrombocytopenia, Hemiparesis, Decerebrate rigidity, Anemia	ORPHA:319251
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Cryptorchidism, Kyphosis, Scoliosis, Decreased body weight	OMIM:619005
Mgat2-Cdg	Kyphosis, Failure to thrive, Scoliosis, Brain atrophy	ORPHA:79329
Pycnodysostosis	Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Sp...	ORPHA:763
Cowden Syndrome 5	Hydrocele testis, Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Hemiplegia, Cachexia	ORPHA:3217
Koolen-De Vries Syndrome	Vertebral fusion, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:96169
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Dupuytren contracture, Hepatosplenomegaly, Hemophagocytosis, F...	ORPHA:39812
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Decreased body weight	OMIM:614856
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture	OMIM:619183
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Sacral dimple, Small for gestational age, Testicular neoplasm, Spina bifida, Hype...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Sacral dimple, Small for gestational age, Testicular neoplasm, Spina bifida, Hype...	ORPHA:363958
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Cryptorchidism, Kyphosis, Fused cervical vertebrae, Gait dis...	OMIM:265000
Erdheim-Chester Disease	Ataxia, Hypogonadotropic hypogonadism, Weight loss	ORPHA:35687
Primary Hepatic Neuroendocrine Carcinoma	Weight loss, Carcinoid tumor, Neuroendocrine neoplasm	ORPHA:100085
Donohue Syndrome	Severe failure to thrive, Skeletal muscle atrophy	OMIM:246200
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Congenital Heart Defects And Skeletal Malformations Syndrome	Cryptorchidism, Failure to thrive, Kyphosis, Scoliosis	OMIM:617602
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Spastic tetraplegia, Limb hypertonia	OMIM:619909
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Failure to thrive, Scoliosis, Tip-toe gait	OMIM:618050
Weaver Syndrome	Cryptorchidism, Kyphosis, Slurred speech, Hydrocele testis, Poor fine motor coordination, Hyperto...	OMIM:277590
Bronchial Neuroendocrine Tumor	Weight loss, Pulmonary carcinoid tumor	ORPHA:97287
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzyme level, Sple...	ORPHA:264580
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Weight loss	ORPHA:139402
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Cowden Syndrome 6	Hydrocele testis, Kyphosis, Scoliosis, Intention tremor	OMIM:615109
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Kyphoscoliosis, Cryptorchidism, Kyphosis, Unsteady gait, Inability to walk...	ORPHA:3063
Short Syndrome	Weight loss	ORPHA:3163
Saul-Wilson Syndrome	Nyctalopia	OMIM:618150
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Nyctalopia, Peripheral visual field loss	OMIM:250410
Behçet Disease	Ataxia, Orchitis, Abnormal pyramidal sign, Weight loss, Hemiparesis, Paresthesia, Gait disturbance	ORPHA:117
Simple Cryoglobulinemia	Weight loss, Paresthesia, Chronic lymphatic leukemia, Spontaneous pain sensation	ORPHA:91139
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Blindness	OMIM:612199
Norrie Disease	Blindness	OMIM:310600
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Constriction of peripheral visual field, Hypertriglyceridemia, Primary amenorrhea, Nyctalopia	OMIM:619418
Neu-Laxova Syndrome	Skeletal muscle atrophy, Spina bifida, Flexion contracture, Opisthotonus, Muscular dystrophy, Art...	ORPHA:2671
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Brucellosis	Liver abscess, Small for gestational age, Lung abscess, Hypersplenism, Thrombocytopenia, Chorea, ...	ORPHA:1304
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility	ORPHA:99429
Al Amyloidosis	Macroglossia, Howell-Jolly bodies, Anemia, Weight loss	ORPHA:85443
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Cryptorchidism, Kyphosis, Scoliosis	OMIM:619951
Klatskin Tumor	Weight loss	ORPHA:99978
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence	ORPHA:49041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombo...	ORPHA:37042
Isolated Complex I Deficiency	Blindness	ORPHA:2609
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Cryptorchidism, Kyphosis, Scoliosis, Slender build	OMIM:300967
Mucopolysaccharidosis Type 6	Kyphosis, Failure to thrive, Ovoid vertebral bodies, Short neck	ORPHA:583
Mitochondrial Complex I Deficiency, Nuclear Type 32	Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Cerebral atrophy	OMIM:618252
Osteogenesis Imperfecta	Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Vert...	ORPHA:666
7Q31 Microdeletion Syndrome	Speech apraxia, Skeletal muscle atrophy, Torticollis	ORPHA:251061
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Weight loss, Failure to thrive	ORPHA:199299
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Tetraparesis, Brain stem compression	OMIM:602080
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia	ORPHA:67
Semilobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Flexion contracture, Abnorm...	ORPHA:220386
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Obesity	ORPHA:110
Alobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Flexion contracture, Abnorm...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Flexion contracture, Abnorm...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Inability to walk, Oromotor apraxia, Flexion contracture, Abnorm...	ORPHA:93924
Solitary Fibrous Tumor	Low back pain, Weight loss	ORPHA:2126
Fanconi Anemia	Aganglionic megacolon, Spina bifida, Cryptorchidism, Weight loss, Azoospermia, Decreased fertilit...	ORPHA:84
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness	OMIM:112250
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Cryptorchidism...	ORPHA:536532
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral en...	ORPHA:3042
Multiple Pterygium-Malignant Hyperthermia Syndrome	Cryptorchidism, Kyphosis, Scoliosis	ORPHA:2215
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Splenomegaly, Leukocytosis, Failure to thrive, Anemia	OMIM:615895
Mucolipidosis Type Ii	Inability to walk, Kyphosis, Weight loss	ORPHA:576
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Type 2 muscle fiber predominance, Myopathy, Anemia, Thrombocytopenia	OMIM:619743
Pyomyositis	Leukocytosis, Recurrent cutaneous abscess formation, Myositis, Weight loss	ORPHA:764
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Lymphoid Interstitial Pneumonia	Failure to thrive, Weight loss	ORPHA:79128
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Truncal obesity	OMIM:219080
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Diastasis recti, Inability to walk, Macroglossia, Global brain atrophy	ORPHA:488632
Arima Syndrome	Ataxia, Brainstem dysplasia, Optic atrophy, Hypoplasia of the brainstem, Molar tooth sign on MRI,...	OMIM:243910
Neuroendocrine Tumor Of Stomach	Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss	ORPHA:100075
Fryns-Smeets-Thiry Syndrome	Cachexia, Scoliosis	ORPHA:2058
Primrose Syndrome	Ataxia, Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Kyphosis, Irreg...	OMIM:259050
Pierson Syndrome	Blindness, Hypoproteinemia, High myopia	OMIM:609049
Genitopalatocardiac Syndrome	Cryptorchidism, Kyphosis, Scoliosis	ORPHA:2075
Cowden Syndrome 1	Hydrocele testis, Kyphosis, Scoliosis, Intention tremor	OMIM:158350
Gitelman Syndrome	Paralysis, Rhabdomyolysis, Iron deficiency anemia, Paresthesia, Failure to thrive	ORPHA:358
Weill-Marchesani Syndrome 2	Blindness, High myopia	OMIM:608328
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy	ORPHA:1358
Trisomy 18	Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Spina bifida, Hypertonia	ORPHA:3380
Spondyloenchondrodysplasia	Kyphosis, Chorea, Platyspondyly, Spasticity	ORPHA:1855
Mucopolysaccharidosis, Type Iiid	Nyctalopia, Visual impairment	OMIM:252940
1P36 Deletion Syndrome	Cryptorchidism, Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Spinal canal stenosis, Obesity, ...	ORPHA:1606
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ...	ORPHA:2232
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Somatic sensory dysfunction, Neutrophilia, Eosinophilia, Thrombocytopeni...	ORPHA:3260
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Hydranencephaly	Abnormality of vision, Blindness	ORPHA:2177
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis, Irregular menstruation	OMIM:616482
Malignant Atrophic Papulosis	Pain insensitivity, Weight loss	ORPHA:679
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compr...	OMIM:259730
Osteootohepatoenteric Syndrome	Failure to thrive, Weight loss	OMIM:619377
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Leprosy	Skeletal muscle atrophy, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, A...	ORPHA:548
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Recon Progeroid Syndrome	Skeletal muscle atrophy, Thrombocytopenia, Anemia	OMIM:620370
Noonan Syndrome 14	Cryptorchidism, Kyphosis, Short neck	OMIM:619745
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Atelis Syndrome 2	Kyphosis, Sacral dimple, Dysmetria	OMIM:620185
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Kikuchi-Fujimoto Disease	Ataxia, Thrombocytopenia, Splenomegaly, Weight loss, Leukopenia, Lymphocytosis, Neutropenia, Anemia	ORPHA:50918
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Myopia, Blindness	OMIM:225400
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Werner Syndrome	Skeletal muscle atrophy, Slender build	ORPHA:902
Distal Renal Tubular Acidosis	Hemolytic anemia, Failure to thrive, Paralysis	ORPHA:18
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi...	OMIM:305620
Neurofibromatosis Type 1	Ataxia, Cryptorchidism, Kyphosis, Pheochromocytoma, Paresthesia, Plexiform neurofibroma, Scoliosi...	ORPHA:636
Multiple Endocrine Neoplasia Type 1	Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Decreased male libido, Amenorr...	ORPHA:652
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Flexion contracture, Decreased body weight, Failure to thrive, Anemia	ORPHA:89842
Primary Sjögren Syndrome	Normocytic anemia, Somatic sensory dysfunction, Myositis, Abnormal spinal cord morphology, Chorea...	ORPHA:289390
Pontocerebellar Hypoplasia Type 7	Skeletal muscle atrophy, Involuntary movements, Olivopontocerebellar hypoplasia, Optic atrophy, H...	ORPHA:284339
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Blindness, Elevated circulating creatine kinase concentration	OMIM:615287
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat...	OMIM:301074
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Microphthalmia With Linear Skin Defects Syndrome	Visual loss, Blindness, Abnormal testis morphology, Amblyopia	ORPHA:2556
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Dural ectasia	OMIM:616914
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Thrombocytopenia, Splenomegaly, Truncal obesity, Leukopenia, Hemophagocy...	OMIM:222700
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, Weight loss, Hepatosplen...	ORPHA:275761
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:109
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased body weight...	ORPHA:2298
Aspartylglucosaminuria	Kyphosis, Cerebral atrophy, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Macroorchidism, ...	OMIM:208400
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Williams Syndrome	Tremor, Dysmetria, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Spina bi...	ORPHA:904
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormality of the tongue muscle, Inabilit...	ORPHA:273
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Weight loss, Generalized amyotr...	ORPHA:171
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Rhabdomyosarcom...	ORPHA:647
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Native American Myopathy	Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital...	ORPHA:168572
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Truncal obesity, Secondary amenorrhea	OMIM:610489
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Small for gestational age, Poor coordination, Flexion contracture, Spast...	OMIM:309590
Microsporidiosis	Brain abscess, Myositis, Cachexia, Abnormality of the spleen, Weight loss, Decreased proportion o...	ORPHA:2552
Juvenile Dermatomyositis	Calcinosis, Myositis, Weight loss	ORPHA:93672
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Cryptorchidism, Kyphosis, Failure to thrive, ...	ORPHA:401973
Q Fever	Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Granuloma, Thrombocytopenia	ORPHA:781
Xq21 Microdeletion Syndrome	Progressive night blindness, Visual acuity test abnormality, Reduced visual acuity, Peripheral vi...	ORPHA:1435
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Polycythemia Vera	Splenomegaly, Acute leukemia, Weight loss	ORPHA:729
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Weight loss	ORPHA:100086
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Truncal obesity	OMIM:610475
Addison Disease	Orthostatic hypotension, Primary testicular failure, Premature ovarian insufficiency, Decreased f...	ORPHA:85138
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Acute Adrenal Insufficiency	Orthostatic hypotension, Failure to thrive, Decreased female libido, Weight loss	ORPHA:95409
Osteoporosis-Pseudoglioma Syndrome	Congenital blindness, Blindness	OMIM:259770
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic endocrine tumor, Leukocytosis, Increased body weight, Weight loss, Proximal amyotrophy...	ORPHA:99889
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Hurler-Scheie Syndrome	Kyphosis, Scoliosis	OMIM:607015
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis, Biconcave verte...	ORPHA:955
Norrie Disease	Clonus, Cachexia, Cryptorchidism, Optic atrophy, Hypertonia, Scoliosis, Erectile dysfunction, Fai...	ORPHA:649
Marden-Walker Syndrome	Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Arthrogryposis multiplex co...	ORPHA:2461
Classic Homocystinuria	Kyphosis, Optic atrophy, Scoliosis, Hemiplegia/hemiparesis	ORPHA:394
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en...	OMIM:143095
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:1969
Caroli Disease	Splenomegaly, Leukocytosis, Liver abscess, Weight loss	ORPHA:53035
Ciliary Dyskinesia, Primary, 1	Male infertility	OMIM:244400
Toxic Epidermal Necrolysis	Thrombocytopenia, Neutropenia, Anemia, Weight loss	ORPHA:537
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Joubert Syndrome 5	Congenital blindness, Reduced visual acuity	OMIM:610188
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils, Weight loss	ORPHA:36426
Ramon Syndrome	Optic disc pallor, Kyphosis, Scoliosis, Decreased body weight	OMIM:266270
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Renpenning Syndrome 1	Blindness, Decreased testicular size, Hypermetropia	OMIM:309500
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Scoliosis	OMIM:616894
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia, Weight loss	ORPHA:160
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Cryptorchidism, Kyphosis, Subcortical cerebral atrophy, Abnormality of the...	ORPHA:2273
Marfan Syndrome	Cachexia, Kyphosis, Dural ectasia, Scoliosis, Slender build, Spondylolisthesis	ORPHA:558
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:90289
Tyrosinemia, Type I	Splenomegaly, Failure to thrive, Anemia, Periodic paralysis	OMIM:276700
Congenital Erythropoietic Porphyria	Blindness, Reduced haptoglobin level	ORPHA:79277
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Short neck, Cryptorchidism, Kyphosis, Optic atrophy, Abnormal form of the ...	ORPHA:818
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Flexion contracture, Anemia, Weight loss	ORPHA:85408
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Kyphosis, Scoliosis	OMIM:619718
Pancreatoblastoma	Weight loss	ORPHA:677
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Rat-Bite Fever	Anemia, Tendonitis, Weight loss	ORPHA:31205
Mend Syndrome	Sacral dimple, Cryptorchidism, Kyphosis, Hypertonia, Failure to thrive	OMIM:300960
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Failure to thrive	OMIM:239000
Cowden Syndrome	Kyphosis, Failure to thrive, Ataxia, Scoliosis	ORPHA:201
Duane Retraction Syndrome	Blepharospasm, Skeletal muscle atrophy, Spina bifida occulta, Camptodactyly	ORPHA:233
Granulomatosis With Polyangiitis	Granulomatosis, Weight loss	OMIM:608710
Autosomal Dominant Polycystic Kidney Disease	Reduced sperm motility	ORPHA:730
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Moebius Syndrome	Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congeni...	ORPHA:570
Zttk Syndrome	Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis, Spasticity, Failure to thrive	OMIM:617140
Stickler Syndrome	Myopia, Blindness, Visual impairment	ORPHA:828
Lenz-Majewski Hyperostotic Dwarfism	Facial palsy, Cryptorchidism, Kyphosis, Hypogonadism, Scoliosis	ORPHA:2658
Cardiofacioneurodevelopmental Syndrome	Cryptorchidism, Kyphosis	OMIM:619123
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Cryptorchidism, Kyphosis, Hypertonia, Scoliosis	OMIM:619194
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Hermansky-Pudlak Syndrome	Neutropenia, Weight loss	ORPHA:79430
Fraser Syndrome 1	Cryptorchidism, Blindness	OMIM:219000
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Hepatoerythropoietic Porphyria	Blindness	ORPHA:95159
Tropical Pancreatitis	Weight loss	ORPHA:103918
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1507
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt...	OMIM:601701
Hyper-Igd Syndrome	Nyctalopia	OMIM:260920
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Tethered cord, Small for gestational age, Cryptorchidism, Kyphos...	OMIM:194190
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance	OMIM:614557
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Testicular adrenal rest tumor,...	ORPHA:90794
Seckel Syndrome	Cachexia, Scoliosis	ORPHA:808
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Weight loss, Abnormality of the extraocular muscles, Optic nerve compression, Thrombocy...	ORPHA:79078
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Abnormal central motor function, Kyphosis, Schwannoma, Glomus jugular ...	ORPHA:97685
Cleidocranial Dysplasia 1	Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Zollinger-Ellison Syndrome	Weight loss, Neuroendocrine neoplasm, Glucagonoma	ORPHA:913
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Small intestine carcinoid, Weight loss	ORPHA:100078
Familial Pancreatic Carcinoma	Back pain, Weight loss	ORPHA:1333
Monosomy 9Q22.3	Kyphosis, Abnormality of the vertebral column, Large for gestational age, Short neck	ORPHA:77301
Granulomatosis With Polyangiitis	Hemiplegia, Granulomatosis, Weight loss	ORPHA:900
Congenital Myopathy 13	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int...	OMIM:255995
Poland Syndrome	Short neck, Cryptorchidism, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Sp...	ORPHA:2911
Somatomammotropinoma	Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Imp...	ORPHA:314769
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture	ORPHA:77259
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Mucopolysaccharidosis Type 2, Severe Form	Nyctalopia, Peripheral visual field loss, Visual impairment	ORPHA:217085
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto...	OMIM:619381
Menke-Hennekam Syndrome 1	Cryptorchidism, Blindness, Hypermetropia	OMIM:618332
Grfoma	Pheochromocytoma, Intestinal carcinoid, Weight loss	ORPHA:97261
Dermatomyositis	Inflammatory myopathy, Abnormal eosinophil morphology, Weight loss	ORPHA:221
Mucopolysaccharidosis Type 2	Large central visual field defect, Peripheral visual field loss, Nyctalopia	ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form	Nyctalopia, Peripheral visual field loss, Visual impairment	ORPHA:217093
Ppoma	Intestinal carcinoid, Weight loss	ORPHA:97278
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi...	ORPHA:1772
Oculocerebrorenal Syndrome Of Lowe	Clonus, Cryptorchidism, Kyphosis, Azoospermia, Platyspondyly, Scoliosis, Failure to thrive	ORPHA:534
Postinfectious Vasculitis	Orchitis, Abnormality of the peripheral nervous system, Weight loss	ORPHA:48435
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Pulmonary Alveolar Microlithiasis	Testicular microlithiasis, Decreased fertility, Weight loss	ORPHA:60025
Vipoma	Ganglioneuroma, Weight loss	ORPHA:97282
Pineoblastoma	Papilledema, Paralysis	ORPHA:251909
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis	OMIM:619482
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Hemivertebrae, Scoliosis, Short neck	OMIM:618223
Acromegaly	Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, Imp...	ORPHA:963
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Nyctalopia, Hypoplasia of the ovary, Decreased testicular size	OMIM:619321
Renal Cysts And Diabetes Syndrome	Cerebral cortical atrophy, Reduced sperm motility	OMIM:137920
Malt Lymphoma	Weight loss	ORPHA:52417
Achondroplasia	Brain stem compression	OMIM:100800
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Microcytic anemia, Splenomeg...	OMIM:256040
Frank-Ter Haar Syndrome	Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Coffin-Siris Syndrome 1	Sacral dimple, Cryptorchidism, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta	OMIM:135900
Fraser Syndrome	Cryptorchidism, Blindness	ORPHA:2052
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Weight loss, Shuffling gait, Severe failure to thrive, Delayed menarche	ORPHA:740
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Photophobia, Visual loss, Blindness	ORPHA:95455
Sarcoidosis	Hemolytic anemia, Facial palsy, Eosinophilia, Thrombocytopenia, Increased T cell count, Weight lo...	ORPHA:797
Microphthalmia, Syndromic 6	Myopia, Blindness, Female hypogonadism, Cryptorchidism	OMIM:607932
Parathyroid Carcinoma	Testicular neoplasm, Weight loss	ORPHA:143
Reactive Arthritis	Weight loss	ORPHA:29207
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight	OMIM:182210
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Weight loss	OMIM:181000
Primary Fanconi Renotubular Syndrome	Weight loss, Decreased circulating carnitine concentration	ORPHA:3337
Dpagt1-Cdg	Nyctalopia	ORPHA:86309
Cdags Syndrome	Kyphosis	OMIM:603116
Glucagonoma	Acanthocytosis, Normochromic anemia, Weight loss	ORPHA:97280
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Myopathy, Difficulty walking	ORPHA:536545
Somatostatinoma	Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Cerebrocostomandibular Syndrome	Kyphosis, Spina bifida	ORPHA:1393
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Limb Body Wall Complex	Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnormal spinal cord morphology, ...	ORPHA:2369
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Ganglioneuroma, Abnormal midbrain morphology, Obesity, Impaired pain sensation	ORPHA:293987
Juvenile Polyposis Of Infancy	Anemia, Refractory anemia, Cachexia	ORPHA:79076
Carney Complex	Sertoli cell neoplasm, Testicular neoplasm, Testicular adrenal rest tumor, Oligozoospermia, Decre...	ORPHA:1359
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Short neck, Ky...	ORPHA:881
Nocardiosis	Brain abscess, Cutaneous abscess, Liver abscess, Weight loss	ORPHA:31204
Sotos Syndrome	Sacrococcygeal teratoma, Aganglionic megacolon, Tremor, Cryptorchidism, Kyphosis, Poor coordinati...	ORPHA:821
Lowe Oculocerebrorenal Syndrome	Cryptorchidism, Kyphosis, Platyspondyly, Scoliosis, Failure to thrive	OMIM:309000
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Proteus Syndrome	Testicular neoplasm, Cachexia, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Macroo...	ORPHA:744
Alström Syndrome	Blindness, Hypertriglyceridemia, Hypergonadotropic hypogonadism, Testicular fibrosis, Visual loss...	ORPHA:64
Atypical Werner Syndrome	Skeletal muscle atrophy, Calf muscle hypertrophy, Decreased body weight, Failure to thrive, Abnor...	ORPHA:79474
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Orthostatic hypotension	OMIM:304150
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Weight loss, Normochromic anemia, Reduced hematocrit	ORPHA:91500
Leprechaunism	Skeletal muscle atrophy, Failure to thrive, Decreased body weight	ORPHA:508
Igg4-Related Kidney Disease	Eosinophilia, Weight loss	ORPHA:449395
Chronic Graft Versus Host Disease	Pancytopenia, Flexion contracture, Weight loss	ORPHA:99921
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:198
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Cystic Fibrosis	Male infertility, Steatorrhea	OMIM:219700
Wrinkly Skin Syndrome	Cryptorchidism, Failure to thrive, Kyphosis, Scoliosis	OMIM:278250
Coffin-Lowry Syndrome	Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis	OMIM:303600
Tetrasomy 9P	Abnormal spinal cord morphology, Myositis	ORPHA:3310
Branchiooculofacial Syndrome	Facial palsy, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis	OMIM:113620
Tropical Endomyocardial Fibrosis	Splenomegaly, Cachexia, Eosinophilia, Myocardial calcification	ORPHA:75565
Microphthalmia, Syndromic 1	Cryptorchidism, Blindness	OMIM:309800
Viss Syndrome	Kyphosis, Failure to thrive, Butterfly vertebrae, Scoliosis	OMIM:619472
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450
Yunis-Varon Syndrome	Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy...	OMIM:216340

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 Pla2g6

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 Pla2g6.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Myeloid-specific deletion of group VIA calcium-independent phospholipase A2 induces pro-inflammatory LPS response predominantly in male mice via MIP-1α activation.	Biochimica et biophysica acta. Molecular basis of disease (January 2024)	Pla2g6^{tm1c(EUCOMM)Hmgu}	38198970
Myeloid- and hepatocyte-specific deletion of group VIA calcium-independent phospholipase A2 leads to dichotomous opposing phenotypes during MCD diet-induced NASH.	Biochimica et biophysica acta. Molecular basis of disease (November 2022)	Pla2g6^{tm1c(EUCOMM)Hmgu} Pla2g6^{tm1a(EUCOMM)Wtsi}	36334837
Metabolic Effects of Selective Deletion of Group VIA Phospholipase A2 from Macrophages or Pancreatic Islet Beta-Cells.	Biomolecules (October 2020)	Pla2g6^{tm1a(EUCOMM)Hmgu}	PMC7602969
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pla2g6^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Pla2g6^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pla2g6^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pla2g6^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pla2g6^{tm1a(EUCOMM)Wtsi}	PMC5827107

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pla2g6^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pla2g6^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pla2g6^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Pla2g6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pla2g6 MGI:1859152

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

DSS Histology

Anti-nuclear antibody assay

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Pla2g6 mutations

Histopathology

IMPC related publications

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