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Gene: Hip1 MGI:1099804

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Gene Summary

Name:
huntingtin interacting protein 1
Synonyms:
HIP-1,  A930014B11Rik,  E130315I21Rik,  2610109B09Rik

Order Alleles

IMPC Data Collections

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
hyperactivity Hip1em1(IMPC)Hmgu HOM Early adult 3.37×10-12
decreased locomotor activity Hip1em1(IMPC)Hmgu HOM Early adult 4.27×10-35
abnormal vertebrae morphology Hip1em1(IMPC)Hmgu HOM Early adult 1.22×10-08
corneal opacity Hip1em1(IMPC)Hmgu HOM Early adult 3.59×10-06
abnormal cornea morphology Hip1em1(IMPC)Hmgu HOM Early adult 3.38×10-05
decreased vertical activity Hip1em1(IMPC)Hmgu HOM Early adult 7.12×10-17
abnormal gait Hip1em1(IMPC)Hmgu HOM Early adult 3.02×10-08
decreased body length Hip1em1(IMPC)Hmgu HOM Early adult 2.66×10-07
increased bone mineral content Hip1em1(IMPC)Hmgu HOM Early adult 7.12×10-12
decreased circulating creatinine level Hip1em1(IMPC)Hmgu HOM Early adult 9.47×10-07

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Viewing: all phenotypes

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 Whole Body Dorso Ventral

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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Human diseases caused by Hip1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Spermatogenic Failure 17
Male infertility OMIM:617214
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Cataract 29
Cataract OMIM:115800
Nanophthalmos 2
Microphthalmia OMIM:609549
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... OMIM:611225
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
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 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 44
Developmental cataract OMIM:616509
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Microphthalmia/Coloboma 7
Iris coloboma, Microphthalmia OMIM:614497
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity, Ataxia ORPHA:3177
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma OMIM:604219
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Anophthalmia, Microphthalmia OMIM:616428
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Scoliosis, Tremor, Ataxia OMIM:213000
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Spinal muscular atrophy, Tremor, Loss of ambulation, Proximal ... OMIM:182980
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column, Corneal opacity ORPHA:351
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Trichomegaly
Cataract OMIM:190330
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Hypospadias ORPHA:1381
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... OMIM:614561
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Spinocerebellar Ataxia 43
Distal amyotrophy, Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia OMIM:617018
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture OMIM:611105
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal upper limb amyotrophy, Distal lower limb amyotrophy, Tremor, Gait disturbance, Ataxia, Sco... ORPHA:101075
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Kyphosis, Lumbar hypolordosis, Squared-off platyspondyly, Intervertebr... OMIM:271530
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Tongue fasciculations, Proximal muscle weakness in lower limbs, Proximal muscle ... ORPHA:276435
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Corneal opacity, Generalized osteoporosis, ... OMIM:277950
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ankle cl... OMIM:616053
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... OMIM:615290
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Loss of ambulation, Babinski sign,... ORPHA:521406
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Spastic paraparesis, Distal amyotrophy, Hand muscle weak... ORPHA:101077
Osteomesopyknosis
Low back pain, Infertility OMIM:166450
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Spinal muscular atrophy, Tremor, Cal... OMIM:615048
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia/Coloboma 5
Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Blindness-Scoliosis-Arachnodactyly Syndrome
Lens subluxation, Cataract, Microphakia, Scoliosis ORPHA:171844
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Spasticity, Ankle flexion contracture, Proximal muscle w... OMIM:616668
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Microphthalmia ORPHA:2432
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Sclerocornea, Corneal opacity, Ocular anterior segment dysgenesis, Anterio... OMIM:269400
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Scissor gait, Park... OMIM:260300
Hemochromatosis, Type 1
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impoten... OMIM:235200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Obesity, Lower limb spasticity, Ataxia... OMIM:616756
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Tip-toe gait, Gait disturbance, Lower limb spasticity, Hyperlordosis, Proximal amyotrophy, Short ... OMIM:617404
Galactokinase Deficiency
Cataract, Nuclear cataract, Failure to thrive, Hepatosplenomegaly, Premature ovarian insufficienc... ORPHA:79237
Foveal Hypoplasia 2
Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia OMIM:609218
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia OMIM:120433
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Nathalie Syndrome
Cataract ORPHA:2663
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae, Microphthalmia OMIM:156900
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Leg muscle s... ORPHA:391411
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Corneal opacit... OMIM:610202
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Limb m... OMIM:610687
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Microcephalic sperm head, Reduced progressive sperm mo... OMIM:301101
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy, Ataxia OMIM:271310
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Morquio Syndrome C
Platyspondyly, Corneal opacity OMIM:252300
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Facial myokymia, Ataxia, Short stature, Kyphosis OMIM:620007
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Ataxia, Distal amyotrophy, Tremor, Kyphoscoliosis OMIM:619099
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Deleted in azoospermia
Azoospermia OMIM:400003
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Tremor ORPHA:423296
X-Linked Retinoschisis
Cataract ORPHA:792
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spastic ataxia, Corneal dystrophy, Developmental cataract OMIM:271320
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Tremor, Vocal cord paralysis OMIM:158580
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Gait ataxia, Myoclonus... OMIM:607317
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Elbow flexion contracture, R... ORPHA:306692
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Knee flexi... ORPHA:496689
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Ant... OMIM:604229
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Gait disturbance, Developmental cataract, Ataxia, Corneal dystrophy ORPHA:2572
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness, Tremor, Dysmetria, Progressive gait ataxia, Babins... OMIM:607458
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia, Hypomimic face OMIM:128235
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Platyspondyly, Short neck, Aplasia/Hypoplasia of the lens, Micro... ORPHA:85194
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Hand tremor, Lower limb... OMIM:253400
Roussy-Lévy Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Frequent falls, Difficult... ORPHA:3115
Dystonia 16
Bradykinesia, Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis,... ORPHA:210571
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... OMIM:239500
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Pancytopenia, Thrombocytopenia OMIM:613987
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Difficulty walking, Foot dorsiflexor weakness, Lower limb amyotrophy, Scoliosis, Kyphosis, Upper ... OMIM:617087
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Truncal ataxia OMIM:276880
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis, Kyphosis, Skeletal muscle hypertrophy ORPHA:99014
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism, Microphthalmia ORPHA:363741
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Gait ataxia, Kinetic tremor, Abnormal pyramidal s... ORPHA:101110
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... ORPHA:98762
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration... OMIM:255600
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Dermoids Of Cornea
Corneal opacity OMIM:304730
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia OMIM:615703
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Upper limb hypertonia, Gait disturbance, Clonus, Dystonia, Kyphosis, Lower li... OMIM:614898
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Tremor, Babinski ... OMIM:609260
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Difficulty walking, Limb ataxia, Tremor, Babinski sign,... ORPHA:251282
Masa Syndrome
Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Short statu... OMIM:303350
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Hand tremor, Lower limb muscle weakness, Head tremor, Limb dysmetria, Limb mu... OMIM:614409
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Limb muscle weakness, Facial dipleg... OMIM:609285
Spinocerebellar Ataxia Type 37
Falls, Limb dysmetria, Myoclonus, Cogwheel rigidity, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Parkinson Disease 19A, Juvenile-Onset
Shuffling gait, Spasticity, Pill-rolling tremor, Rigidity, Loss of ambulation, Dystonia, Parkinso... OMIM:615528
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Short stature, Small for gestational age, Waddling gait OMIM:618392
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... OMIM:300423
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Cataract, Microcornea, Microphthalmia ORPHA:2528
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Scoliosis, Kyphosi... OMIM:300718
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady... OMIM:300911
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Hypogonadism, Obesity, Cryptorchidism, Microphthalmia OMIM:601794
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Thoracic scoliosis, Tremor, Ataxia, S... OMIM:610185
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Death in childhood, Kyphoscoliosis, Developmental cataract, Microphthalm... OMIM:610756
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia, Scoliosis OMIM:614018
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi... OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia ORPHA:231736
Wolfram Syndrome 1
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Cataract 47
Cataract, Microcornea OMIM:612018
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Gait disturbance, Parkinso... ORPHA:314632
Adrenal Hypoplasia, Congenital
Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ... OMIM:300200
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia, Growth delay, Small for gestational age OMIM:278780
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Spinocerebellar Ataxia 38
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia OMIM:615957
Cataract 41
Nuclear cataract OMIM:116400
Cataract 18
Nuclear cataract OMIM:610019
X-Linked Intellectual Disability, Hedera Type
Frequent falls, Inability to walk, Extrapyramidal muscular rigidity, Obesity, Action tremor, Dysm... ORPHA:93952
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Foot dorsiflexor weakness, Loss of ambulation, Ataxia, Short stature, Unsteady gait, Sco... OMIM:618124
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Gait ataxia, Limb muscle weakness, Tremor, Dysmetria, Foot dorsiflexor weaknes... OMIM:618387
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Hyperlordosis, Corneal opacity,... ORPHA:577
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Corneal opacity ORPHA:2370
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Secondary amenorrhea, Decreased testicular size, Obesity, Cryptorchidism, Polycystic ov... ORPHA:3085
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Inability to walk, Multiple joint contractures, Tremor, Babi... OMIM:128100
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Frequent falls, Difficulty walking, Inability to walk... ORPHA:2590
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Spina bifida occul... OMIM:612109
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Skeletal muscle atrophy, Difficulty walking, Delayed menarche, Inability to wa... ORPHA:330050
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Scoliosis, Hyperlordosis ORPHA:2310
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl... OMIM:271150
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intrauterine growth retardation, Obesity, Limb dystonia, Tremor, Ataxia OMIM:620270
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Combined Oxidative Phosphorylation Deficiency 45
Short neck, Failure to thrive, Tremor, Ataxia OMIM:618951
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Facial myokymia, Parkinsonism, Dysdiadocho... OMIM:604326
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Frequent fal... OMIM:159950
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Autosomal Spastic Paraplegia Type 58
Spasticity, Distal amyotrophy, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... ORPHA:397946
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Finger joint contracture, Intrauterine growth retardation, Chorea, Intention tremor, Dysmetria, A... ORPHA:48431
Galactosemia Ii
Cataract OMIM:230200
Nanophthalmos 4
Microphthalmia OMIM:615972
Migraine, Familial Hemiplegic, 1
Hemiplegia, Hemiparesis, Tremor, Ataxia OMIM:141500
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech apraxia, Freezing of... ORPHA:99750
Spinocerebellar Ataxia Type 14
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Abnormality of the Achilles tendon, Progre... ORPHA:98763
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Mevalonic Aciduria
Cataract, Nuclear cataract, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in inf... OMIM:610377
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Short neck, Microphthalmia, Small for g... ORPHA:1617
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Hemiparkinsonism-Hemiatrophy Syndrome
Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism, Bradykinesia, Scoliosis ORPHA:306669
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Gait disturbance, Abnormal pyra... OMIM:213600
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Tip-toe gait, Frequent falls, Difficulty walking, Shoulder gird... OMIM:607155
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atrophy, Tip-to... OMIM:606612
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia ORPHA:1532
Nanophthalmos
Microphthalmia ORPHA:35612
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:280333
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Hyperlordosis, Elevated creatine kinase after exercise ORPHA:352470
Galactosemia Iv
Cataract OMIM:618881
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration ORPHA:90081
Glycine Encephalopathy 1
Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Imp... OMIM:605899
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... ORPHA:465508
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Kyphoscoliosis, Beaking of vertebral bodies, Short stature, Wad... OMIM:616583
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Lichtenstein-Knorr Syndrome
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Short stature, Dysdiadochokinesis OMIM:616291
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Limb dystonia, Gait ataxia, Parkinsonism, Craniofacial dystonia, Torticollis, Hyp... ORPHA:71517
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Obesity, Facial hypotoni... OMIM:300055
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Death in infancy, Neonatal death, Microphthalmia OMIM:613730
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Dystonia, Abnormal pyramidal sign, Hypertonia, Unsteady gait, B... OMIM:617435
Biemond Syndrome Type 2
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Microphthalmia, Hypospadias ORPHA:141333
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Gait ataxia, Cogwheel rigid... OMIM:600116
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Tremor, Babinski sign, Lower limb spasticity, Clo... OMIM:600363
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Tremor, Rigidity, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:240085
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma ORPHA:1473
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:408
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Chorea, Myoclonus, Facial myokymia, Limb hypertonia, Campt... OMIM:606703
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Primary Dystonia, Dyt4 Type
Blepharospasm, Upper limb postural tremor, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Myoclonus, Ataxia, Anterior beaking of lumbar vertebrae, ... OMIM:230650
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Obesity, Kyphoscoliosis, Distal lower li... ORPHA:459033
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Nuclear cataract, Truncal obesity OMIM:617547
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia OMIM:618093
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Facial diplegia, Foot ... ORPHA:329478
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Inability to walk, Postnatal growth retardation, Bilateral fa... ORPHA:319332
Cofs Syndrome
Cataract, Hypogonadism, Death in infancy, Short neck, Microphthalmia ORPHA:1466
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Megalocornea, Astigmatism, Corneal stromal edema, Develo... ORPHA:566
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Carpal osteolysis, Inability to walk, Metacarpal osteolysis, Metatarsal osteolysis, O... OMIM:166300
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Thenar muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness, Tremo... OMIM:118300
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Hypomimic face, Bradykinesia, Tip-toe gait... OMIM:617013
Fish-Eye Disease
Increased LDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Short stature, U... OMIM:213200
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb ... OMIM:619028
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, L... ORPHA:209335
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract, Lumbar hyperlordosis ORPHA:2848
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Resting tremor, Obesity, Tremor, Kyphoscoliosis, Parkinsonism, ... ORPHA:3077
Young Syndrome
Azoospermia OMIM:279000
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Pulmonary Blastoma
Weight loss ORPHA:64741
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Distal amyotrophy, Gait ataxia, Action tremor, Kyphoscoliosis OMIM:180800
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Neutral hyperaminoaciduria, Episodic ataxia OMIM:234500
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Absent pubertal growth spurt, Progressive spastic paraplegia, Difficulty walking, Obe... ORPHA:464282
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Scoliosis... OMIM:609223
Sandhoff Disease
Kyphosis, Failure to thrive, Ataxia ORPHA:796
Warburg Micro Syndrome 1
Microcornea, Failure to thrive, External genital hypoplasia, Cryptorchidism, Kyphoscoliosis, Deve... OMIM:600118
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to dopaminergic ... OMIM:616710
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Neonatal death, Microphthalmia, Bicornuate uterus OMIM:615524
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Nail-Patella Syndrome
Keratoconus, Microcornea, Cataract, Lumbar hyperlordosis, Lester's sign, Antecubital pterygium, M... OMIM:161200
Atypical Rett Syndrome
Spasticity, Involuntary movements, Growth delay, Limb myoclonus, Pill-rolling tremor, Hand apraxi... ORPHA:3095
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Spastic paraplegia, Distal amyotrophy, Inability to walk, Ankle clonus, Babinski sign, Exaggerate... OMIM:609541
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Scoliosis, Tremor, Ataxia OMIM:616421
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis, Hyperactivity ORPHA:85288
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Gait disturbance, Truncal obesity, Scoliosis, Kyphosis ORPHA:2429
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Kyphoscoliosis, Microphthalmia OMIM:300915
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Intrauterine growth retardation, Myopathy, Dystonia, Flexion contrac... OMIM:618237
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc... ORPHA:8
Proximal Myotonic Myopathy
Cataract ORPHA:606
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Developmental Delay And Seizures With Or Without Movement Abnormalities
Tremor, Rigidity, Dystonia, Ataxia, Short stature, Bradykinesia OMIM:617836
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Hand tremor, Hand muscle weakness, Difficulty walking, Incoordination, Distal lower... OMIM:302800
Sialidosis Type 2
Osteoporosis, Kyphosis, Corneal opacity, Ataxia ORPHA:87876
Stxbp1-Related Encephalopathy
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia ORPHA:599373
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Failure to thrive, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Progressive extrapyramidal movement disorder, Involun... ORPHA:401768