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Gene: Gal3st1 MGI:1858277

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Gene Summary

Name:
galactose-3-O-sulfotransferase 1
Synonyms:
3'-phosphoadenylylsulfate-galactosylceramide 3'-sulfotransferase,  Cst,  Gcst,  galactosylceramide sulfotransferase,  GalCer sulfotransferase

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
abnormal epididymis morphology Gal3st1em1(IMPC)Rbrc HOM Early adult 0.00
tremors Gal3st1em1(IMPC)Rbrc HOM Early adult 3.48×10-15
abnormal gait Gal3st1em1(IMPC)Rbrc HOM Early adult 3.48×10-15
small testis Gal3st1em1(IMPC)Rbrc HOM Early adult 0.00
abnormal liver morphology Gal3st1em1(IMPC)Rbrc HOM Early adult 0.00
small epididymis Gal3st1em1(IMPC)Rbrc HOM Early adult 0.00
small liver Gal3st1em1(IMPC)Rbrc HOM Early adult 0.00
increased anxiety-related response Gal3st1em1(IMPC)Rbrc HOM Early adult 5.57×10-05
decreased locomotor activity Gal3st1em1(IMPC)Rbrc HOM Early adult 1.68×10-09
abnormal behavior Gal3st1em1(IMPC)Rbrc HOM Early adult 7.67×10-09
short tibia Gal3st1em1(IMPC)Rbrc HOM Early adult 4.65×10-05
abnormal bone structure Gal3st1em1(IMPC)Rbrc HOM Early adult 0.00
abnormal vertebral arch morphology Gal3st1em1(IMPC)Rbrc HOM Early adult 2.39×10-06
hyperactivity Gal3st1em1(IMPC)Rbrc HOM Early adult 4.57×10-07
abnormal testis morphology Gal3st1em1(IMPC)Rbrc HOM Early adult 0.00
abnormal brain morphology Gal3st1em1(IMPC)Rbrc HOM Early adult 0.00
increased thigmotaxis Gal3st1em1(IMPC)Rbrc HOM Early adult 7.67×10-09
improved glucose tolerance Gal3st1em1(IMPC)Rbrc HOM Early adult 7.29×10-06

Download data as:  TSV  XLS

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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.

Gross Pathology and Tissue Collection

Images

28 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Gal3st1 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 Gal3st1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 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 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... ORPHA:3077
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Ankle flexion contracture, Inability to walk, Babinski sign, Spastic tetraplegia, ... OMIM:616657
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
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
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 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... ORPHA:216873
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Sp... OMIM:615768
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia OMIM:617018
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Coronal cleft vertebrae, Short long bone, Short 3rd metacarpal,... OMIM:118651
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Small hand, Inappropriate laughter... OMIM:616269
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility, Ataxia OMIM:613909
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... ORPHA:401901
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spinocerebellar Ataxia 37
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Spermatogenic Failure 17
Male infertility OMIM:617214
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Short neck, Tremor, Micrognathia, Choreoathetosis, Male hypogonadism, Ataxia, Parkinsonism, Shuff... OMIM:300055
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Abnormal myelination, Spas... ORPHA:401820
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Cerebral palsy, Kyphoscoliosis, Aggressive behavior, Unsteady gait, Phonic tics, C... OMIM:301107
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Spasticity, Aggressive behavior OMIM:615493
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Bruxism, Small hand, Bradykin... OMIM:617435
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dy... OMIM:615924
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Classic Galactosemia
Reduced bone mineral density, Lethargy, Male infertility, Hepatomegaly, Premature ovarian insuffi... ORPHA:79239
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... OMIM:128235
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Sandhoff Disease, Adult Form
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Spasticity ORPHA:309169
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga OMIM:620270
Bent Bone Dysplasia Syndrome 2
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome... OMIM:620076
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... OMIM:617145
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Gait disturbance... ORPHA:3095
Autosomal Recessive Spastic Paraplegia Type 46
Lower limb spasticity, Broad-based gait, Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic ... ORPHA:320391
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spinal Muscular Atrophy, Jokela Type
Pes planus, Tremor, Calf muscle hypertrophy, Hammertoe, Fasciculations, Difficulty walking, Pes c... OMIM:615048
Slc35A2-Cdg
Elevated hepatic transaminase, Osteopenia, Camptodactyly of finger, Craniosynostosis, Spastic tet... ORPHA:356961
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Head trem... OMIM:613724
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors OMIM:159900
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Migraine, Familial Hemiplegic, 1
Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis, Pes cavus OMIM:158580
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... ORPHA:66624
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Decreased fertility, Fasciculations OMIM:313200
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
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small scrotum, Hypospadias, Hypoglycemia, Rhizomelia, Short femur, Sandal gap, Cry... OMIM:607143
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... OMIM:249700
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... ORPHA:251282
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Scolio... ORPHA:306669
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Ataxia, Tremor, Depression, Hemiparesis, Abnormality of the liver... OMIM:614307
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... ORPHA:363710
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Pes planus, Hyperactivity, Hypospadias, Sandal gap, Aggressive behavior, Tremor, Kyphosis, Crypto... OMIM:300354
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetria, CNS hyp... OMIM:607694
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity ORPHA:599373
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Depression, Irritability,... ORPHA:248111
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Aggressive behavior, Spastic tetraparesis, Cryptorchidism, Micrognath... OMIM:604317
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... ORPHA:314632
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... ORPHA:100973
Rapid-Onset Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, ... ORPHA:71517
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... ORPHA:401830
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Pes planus, Aggressive behavior, Cryptorchidism, Chorea, Un... ORPHA:485350
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Dysphagia, Di... ORPHA:276435
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Short palm, Thoracic scoliosis, Broad-based gait, Ataxia, Tremor, Small hand, Dysmetria, Gait ata... OMIM:610185
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Delayed CNS myelination, Hypospadias, Ataxia, Head titubation, Babinski sign, Dysmetria, Leukodys... OMIM:618688
Hartnup Disorder
Hyperactivity, Hypertonia, Attention deficit hyperactivity disorder, Episodic ataxia, Emotional l... OMIM:234500
Kennedy Disease
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... ORPHA:481
4H Leukodystrophy
Ataxia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Abn... ORPHA:289494
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Hepatosplenomegaly, Clumsiness, Eyelid myoclonus, Myocl... ORPHA:2590
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl... ORPHA:521406
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Abnormal repe... OMIM:619470
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,... OMIM:300434
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Urocanase Deficiency
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
X-Linked Charcot-Marie-Tooth Disease Type 3
Equinovarus deformity, Tremor, Inability to walk, Abnormal foot morphology, Hip dysplasia, Gait d... ORPHA:101077
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism... OMIM:616710
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Myoclonus, Lethargy OMIM:605899
Spinocerebellar Ataxia 48
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression... OMIM:618093
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Long pe... ORPHA:1988
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait atax... OMIM:618387
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... OMIM:615362
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Kyphosis, Inability to walk, Chorea, A... ORPHA:500180
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Abnormal... ORPHA:208441
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Decreased response to growth hormone stimulation test, Tremor, Cranial... ORPHA:457240
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... ORPHA:157941
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dysphagia OMIM:261630
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination ORPHA:401835
Autosomal Recessive Spastic Paraplegia Type 57
Inability to walk, Babinski sign, Spastic paraplegia, Abnormal myelination, Spasticity ORPHA:431329
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... OMIM:309548
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... OMIM:619217
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tandem gait, Myoclonus, O... OMIM:619028
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spinocerebellar Ataxia Type 27
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait di... ORPHA:98764
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Insulin resistance, Hyperin... ORPHA:363400
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Sc... OMIM:615157
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Myoclonic-Atonic Epilepsy
Ataxia, Tremor, Eyelid myoclonus, Scoliosis, Attention deficit hyperactivity disorder OMIM:616421
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Parkinsonis... ORPHA:240085
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Distal sensory imp... OMIM:609260
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation OMIM:615010
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,... ORPHA:99750
48,Xxyy Syndrome
Pes planus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Talipes, Tremor, Cryptor... ORPHA:10
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity OMIM:300983
Manganese Poisoning
Decreased female libido, Postural tremor, Dystonia, Akinesia, Aggressive behavior, Hypersexuality... ORPHA:306682
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Coffin-Siris Syndrome 8
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-injurious behavior, Scoliosis OMIM:618362
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, C... OMIM:614381
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Diabetes mellitus, Hypospadias, Short metacarpal, Cryptorchidism, Short metatarsal... OMIM:614613
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia, Loss of ambulation OMIM:617916
Usmani-Riazuddin Syndrome, Autosomal Dominant
Pes planus, Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, 2-3 toe syndactyly, Depress... OMIM:619467
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia, Delayed menarche ORPHA:330050
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Ataxia, Sandal gap, Abnormal repetitive mannerisms, Cryptorch... ORPHA:228402
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis, Abnormali... ORPHA:382
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyphosis, Inability to ... OMIM:128100
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... OMIM:612716
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Hepatic fibrosis, Talip... OMIM:616719
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Stuve-Wiedemann Syndrome 1
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, S... OMIM:601559
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis, Pes cavus ORPHA:101075
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Scoliosis, Spasticity ORPHA:457260
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... ORPHA:240094
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Progressive Supranuclear Palsy-Corticobasal Syndrome
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Hand cle... ORPHA:240103
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Aggressive behavior, Tapered finger, Long fingers, Gait ataxia, Clinodactyly of th... OMIM:609425
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Achilles tendon contract... OMIM:617013
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat... OMIM:606159
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Micrognathia, Repetitive compulsive behavior, Kyphosis, Cryptorchi... ORPHA:352490
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... OMIM:235200
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Tonne-Kalscheuer Syndrome
Pes planus, Broad-based gait, Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Micrognat... OMIM:300978
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... OMIM:618060
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation, Pes cavus OMIM:614018
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Agitation, Pancreatic islet-cell hyperplasia, Fa... ORPHA:276608
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis, Pes cavus ORPHA:101078
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubation, Bradykinesia, Gait ... ORPHA:225147
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... OMIM:609945
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Type I diabetes mellitus ORPHA:1192
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism OMIM:619647
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Incoordination, Tremor, Paraparesis, Babi... OMIM:302800
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Kyphosis... ORPHA:3344
Ataxia-Telangiectasia
Elevated hepatic transaminase, Diabetes mellitus, Ataxia, Tremor, Polycystic ovaries, Gait distur... ORPHA:100
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia... ORPHA:239
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Syndac... OMIM:305400
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Spasticity, Dystonia OMIM:304700
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Im... OMIM:300623
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity OMIM:616494
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri... ORPHA:227510
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... ORPHA:454887
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... OMIM:618718
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Ataxia, Postaxial polydactyly, Abnormal eating behavior, Tremor, Poor coordination, ... ORPHA:544254
Landau-Kleffner Syndrome
Speech apraxia, Hyperactivity, Impulsivity, Aggressive behavior, Slurred speech, Depression, Gait... ORPHA:98818
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... OMIM:606693
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Slurred speech, Tetraplegia, Clum... ORPHA:206443
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Ataxia, Arachnodactyly, Tremor, Clinodactyly, Gait ataxia, Hypertonia, Thoracic kypho... OMIM:619092
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity OMIM:213200
Parkinsonism-Dystonia 3, Childhood-Onset
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... OMIM:619738
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Generalized Epilepsy With Febrile Seizures-Plus
Pes planus, Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Limited k... ORPHA:36387
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Cr... OMIM:308750
Ck Syndrome
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Micrognathia, Irritability, Scoliosi... OMIM:300831
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Hypoplasia of penis, Broad-based gait, Toe syndactyly, Sandal gap, Short neck, Agg... ORPHA:85293
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Inability to walk, Limb fasciculations, Abnormal glucose homeostasis, Dysphagia ORPHA:90117
Fragile X Syndrome
Macroorchidism, postpubertal, Pes planus, Hyperactivity, Self-biting, Scoliosis, Recurrent hand f... OMIM:300624
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Dysphagia, Tongue fasciculations, Difficulty walking, Scoliosis, Myoclonus, Frequent falls OMIM:159950
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... OMIM:616795
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... OMIM:620023
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Dysmyelinating leukodystrophy, Unsteady g... ORPHA:137898
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic movements, Dysphagia, Let... OMIM:233910
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Spinocerebellar Ataxia, Autosomal Recessive 31
Dystonia, Ataxia, Tremor, Bruxism, Choreoathetosis, Lumbar kyphoscoliosis, Dysphagia, Clinodactyl... OMIM:619422
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Intellectual Developmental Disorder, X-Linked 12
Tremor, Cryptorchidism, Depression, Hyperkinetic movements, Gait disturbance, Microphallus, Spast... OMIM:300957
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Tremor, Clinodactyly of the 5th finger, Cryptorch... ORPHA:96263
Intellectual Developmental Disorder, Autosomal Recessive 61
Hyperactivity, Clonus, Aggressive behavior, Tapered finger, Long fingers, Unsteady gait, Babinski... OMIM:617773
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Irritability, Bradykinesia, Hy... OMIM:261640
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Myoclonus, Aggressive behavior ORPHA:2382
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Subacute Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Symmetric peripheral demyelination, Demyelinating motor neuropathy, ... ORPHA:206594
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Short neck, Tremor, Low frustration tolerance, Clinodactyly o... ORPHA:96264
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia,... ORPHA:254881
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... ORPHA:96
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gait, Gait disturbance... ORPHA:216866
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor apraxia, Cerebral... OMIM:612438
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Dysmetria, Dysphagia, ... OMIM:210000
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Hypothyroidism, Limited mobility of proxim... OMIM:222300
Trisomy X
Tremor, Secondary amenorrhea, Depression, Hip dysplasia, Attention deficit hyperactivity disorder... ORPHA:3375
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Brachydactyly, Aggressive behavior, Micrognathia, Cryptorchidism, Ba... OMIM:300534
Hsd10 Disease
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dysphagia, Spastic parapa... ORPHA:391417
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Decreased number of large peripheral myelinated nerve fibers, Tremor, Chorea, I... OMIM:208920
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Head tit... OMIM:312080
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Dystonia, Parkinsonism, Head titubation, Inability to walk, Tremor, Rigi... OMIM:618877
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Ataxia, Clonus, Short neck, Tremor, S... OMIM:615673
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, Dystonia OMIM:612126
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular at... ORPHA:465508
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Pes cavus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parki... OMIM:157640
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... OMIM:616300
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Short tibia, Glandular hypospadias, Talipes equinovarus, Lethargy, Limb hypertonia OMIM:620306
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Depression, Cholestatic live... ORPHA:79095
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Craniosynostosis, Short neck, Absent thumb, Humeroradial synostosis, Ab... OMIM:251230
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Fasciculations ORPHA:65684
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... OMIM:263520
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesi... OMIM:607483
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Short neck, Micrognathia, Postaxial polydactyly, Preaxial pol... OMIM:617925
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Cerebral palsy, Ataxia, Lower limb spasticity, Aggressive behavior, ... ORPHA:163681
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis, Pes cavus ORPHA:99014
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty... ORPHA:477673
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
X-Linked Adrenoleukodystrophy
Hyperactivity, Incoordination, Aggressive behavior, Paralysis, Paraparesis, Progressive spastic p... ORPHA:43
Spondyloepimetaphyseal Dysplasia, Missouri Type
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared met... OMIM:602111
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Aggressive behavior, Precocious puberty, Scoliosis, Spasticity OMIM:300958
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Short neck, Micrognathia, Hemivertebrae, Tibial bowing, Hypoplastic ... ORPHA:96334
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Disin... OMIM:168605
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... ORPHA:240071
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Hyperactivity, Short metacarpal, Hypospadias, Pes planus, Aggressi... OMIM:123450
Atelosteogenesis Type Iii
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... ORPHA:56305
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Dysphagia OMIM:618637
Omodysplasia 2
Dyspareunia, Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Short 1st metacarpal, Uter... OMIM:164745
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Hypogonadism, Emotional lability, Decre... OMIM:201100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... OMIM:613280
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Self-... ORPHA:3306
Intellectual Developmental Disorder, Autosomal Dominant 45
Pes planus, Hyperactivity, Cerebral palsy, Arachnodactyly, Chorea, Myoclonus, Attention deficit h... OMIM:617600
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteopenia, Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Crigler-Najjar Syndrome Type 1
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Tremor, Impaired tandem gait, Polyminimyoclonus, Areflexia of lower limbs, Clubbi... OMIM:619574
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Spasticity, Gait ataxia, Myoclonus, Crouch gait OMIM:620145
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Ataxia, Hyperlordosis, Hepat... ORPHA:354
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign OMIM:260540
Sialidosis Type 2
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Kyphosis, Osteoporosis, Pedal edema ORPHA:87876
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Riboflavin Transporter Deficiency
Ataxia, Tremor, Hypogonadism, Myoclonus, Diabetes insipidus ORPHA:97229
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk... OMIM:137440
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
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
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Lesch-Nyhan Syndrome
Dystonia, Hip dislocation, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of... OMIM:300322
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-muti... OMIM:615516
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, External genital hypoplasia, Short neck, Micrognathia, Tibial bowing, Hypertonia, Cli... ORPHA:251028
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, ... ORPHA:530983
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... ORPHA:442835
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Cryptorchidism, Abnormal posturing OMIM:614857
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Hypergonadotropic hypogonadism, Tremor, Hypoesthesia, Primary ameno... OMIM:619737
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tremor, Babinski sign, Abnormal pyramida... OMIM:614298
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Charcot-Marie-Tooth Disease And Deafness
Tremor, Split hand, Talipes calcaneovalgus, Hammertoe, Steppage gait, Gait disturbance, Pes cavus OMIM:118300
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Tremor, Hemivertebrae, Attention deficit hyperactivity disorder, Compulsive behav... ORPHA:370079
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tremor, Hyperinsulinemia, Glycosuria, Pancreatic isl... ORPHA:263455
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Kyphoscoliosis, Aggressive behavior, Abnormal repetitive mannerisms OMIM:615541
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test,... ORPHA:485405
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Amelia, Clinodactyly of the 5th finger, Decreased skull ossification,... OMIM:601163
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotional lability, Spasticity ORPHA:542310
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Short neck, Cryptorchidism, ... OMIM:258315
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Tremor, Kyphosis, Small hand, Short foot, Self-injurious ... ORPHA:238750
Stankiewicz-Isidor Syndrome
Sacral dimple, Hyperactivity, Hypospadias, Micrognathia, Absent thumb, Cryptorchidism, Short thum... OMIM:617516
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Restlessness, Hyperactivity, Incoordination, Ataxia, Syndactyly, Aggressive behavior, Short neck,... ORPHA:369891
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
19P13.3 Microduplication Syndrome
Hyperactivity, Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Precocious puberty, Long ... ORPHA:447980
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Spasticity, Gait ataxia, Low frustration tolerance,... OMIM:300486
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Decreased circulating cortisol level, Ataxia, Spastic tetra... ORPHA:139396
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ... ORPHA:683
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... ORPHA:93356
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors OMIM:619405
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Aggressive behavior, Tremor, Cryptorchidism, Jaundice, Micrognathi... OMIM:608093
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Quadriceps m... ORPHA:845
19P13.12 Microdeletion Syndrome
Finger syndactyly, Hyperactivity, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, Sh... ORPHA:254346
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... ORPHA:280210
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Intellectual Developmental Disorder, Autosomal Dominant 7
Hallux valgus, Hyperactivity, Incoordination, Ataxia, Micrognathia, Gait disturbance, Inappropria... OMIM:614104
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder OMIM:619556
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia... OMIM:610217
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, D... OMIM:617675
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavi... ORPHA:98794
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Micrognathia, Kyphos... ORPHA:958
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... OMIM:620141
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tapered finger, Tremor, Babinski sign, Dysmetria, Gait ataxia, Steppage gait, Hypertonia,... OMIM:616505
Alexander Disease
Osteopenia, Diabetes mellitus, Ataxia, Clonus, Short neck, Hyperlordosis, Kyphosis, Precocious pu... ORPHA:58
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Hyperactivity, Ivory epiphyses, Hypospadias, Abnormal finger flexio... OMIM:210600
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomotor apraxia, Pes cavus OMIM:614867
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic pa... OMIM:300894
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Spasticity, Depression, Bradykinesia, Male sexual d... ORPHA:2828
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Ri... ORPHA:48818
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Aggressive behavior, Ab... ORPHA:247585
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Hypoplastic iliac wing, Abnor... ORPHA:93315
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Leg muscle stiff... OMIM:615530
Fg Syndrome 3
Cryptorchidism, Hyperactivity, Broad hallux, Broad thumb OMIM:300406
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Lumbar hyperlordosis, Small scrotum, Broad-based gait, Craniosynostosis, Short nec... OMIM:609625
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3... OMIM:206920
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Lower limb spasticity, Hypoplasia of penis, Ataxia, Bilateral cryp... ORPHA:66634
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, D... OMIM:617710
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Impotence, Positiv... OMIM:105210
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadi... OMIM:300998
Wiedemann-Steiner Syndrome
Pes planus, Sacral dimple, Hyperactivity, Broad-based gait, Aggressive behavior, Micrognathia, Cr... OMIM:605130
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Progres... OMIM:207800
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia, Sh... OMIM:168600
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shu... OMIM:168601
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Lower limb spasticity, Hyperactivity, Hypospadias, Micrognathia, Long fingers, Tics, In... ORPHA:363686
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... OMIM:608768
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal... ORPHA:765
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short palm, Pes planus, Aggressive behavior, Tremor, Kyphosis, Micrognathia, Unilateral radial ap... ORPHA:476126
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Kyphoscoliosis, Aggressive behavior, 2-3 toe synd... ORPHA:391307
Intellectual Disability-Strabismus Syndrome
Hyperactivity, Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to g... ORPHA:363528
Myoclonic-Astatic Epilepsy
Syndactyly, Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emoti... ORPHA:1942
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Combined Oxidative Phosphorylation Deficiency 32
Dystonia, Kyphoscoliosis, Tremor, Inability to walk, Choreoathetosis, Dysphagia, Spasticity OMIM:617664
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Pes planus, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidis... ORPHA:449291
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... OMIM:617865
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Craniosynostosis, Puberty and gonadal... ORPHA:525731
Floating-Harbor Syndrome
Short neck, Humeral pseudarthrosis, Compulsive behaviors, Dislocated radial head, Short metacarpa... ORPHA:2044
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Micrognathia, Insulin resistance, Osteoporosis, Hypogonadism, Attent... ORPHA:73272
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia,... ORPHA:529665
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Talipes, Tremor, Calf muscle hypertrophy, Shuffling gait, Fasciculations, Loss of ... ORPHA:209335
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Infantile Neuroaxonal Dystrophy
Hyperactivity, Dystonia, Ataxia, Impulsivity, Spastic tetraparesis, Unsteady gait, Abnormal pyram... ORPHA:35069
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Angelman Syndrome
Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Aggressive behavior, Trem... ORPHA:72
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
13Q12.3 Microdeletion Syndrome
Hyperactivity, Kyphoscoliosis, Cryptorchidism, Hip dysplasia, Camptodactyly, Self-mutilation, Hem... ORPHA:412035
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Reduced bone mineral den... ORPHA:83629
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Abnor... ORPHA:209905
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulat... ORPHA:2388
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Speech apraxia, Ataxia, Dystonia, Hyp... OMIM:615356
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Cerebr... OMIM:612164
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Patent ductus arteriosus, Fasciculations, L... OMIM:620327
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturi... OMIM:137920
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F... ORPHA:1788
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Gait ataxia, Glucose intolerance, Abnormality of the liver, Hypertonia, Lethargy, Hypothy... ORPHA:254892
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Craniosynostosis, Fibular aplasia OMIM:218550
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Splenomegaly, Ovoid thoracolumbar vertebrae, De... OMIM:252920
Adenylosuccinase Deficiency
Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthotonus, Inappropriate l... OMIM:103050
Ataxia-Telangiectasia
Diabetes mellitus, Female hypogonadism, Ataxia, Tremor, Inability to walk, Slurred speech, Abnorm... OMIM:208900
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly, Poor coordination, D... OMIM:620242
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Abnormality of the musculature of the lower limbs, Parkinsonism, Tremor, Depression, F... ORPHA:329478
Metachromatic Leukodystrophy
Incoordination, Ataxia, Dystonia, Tremor, Abnormal gallbladder morphology, Hemobilia, Tip-toe gai... ORPHA:512
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Depression, Bradykinesia... ORPHA:411602
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Dysphag... OMIM:252930
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, Hypoplasia of the ulna, Split hand, Bicornuate uterus, Split foot, U... OMIM:200980
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria OMIM:252900
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progressive gait ataxia, Low f... ORPHA:646
Classic Phenylketonuria
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv... ORPHA:79254
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Ataxia, Tremor, Myoclonus, Dysphagia, Loss of ambulation, Right h... OMIM:607426
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Gabriele-De Vries Syndrome
Waddling gait, Hallux valgus, Sandal gap, Micrognathia, Tremor, Cryptorchidism, Long fingers, Tip... OMIM:617557
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Increased mitochondrial number, Dysmetria OMIM:615578
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Involuntary movements, Kyphoscoliosis, Arachnodactyly, Kyphosis, Cryptorch... ORPHA:3063
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Hyperactivity, Restlessness, Thoracic scoliosis, Pilonidal sinus, Epiphyseal dyspla... OMIM:252940
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5t... OMIM:136140
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... OMIM:618056
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Dumbbell-shaped long bo... ORPHA:3144
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, D... ORPHA:100924
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Micrognathia, Tremor, Primary amenorrhea, Depression, Dysmetria, Progressive cer... ORPHA:502423
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... OMIM:616586
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femu... ORPHA:666
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Dysmetria, Gait a... OMIM:617988
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa... ORPHA:1454
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation ORPHA:52503
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Clumsiness, Progressive gait ataxia, Scolio... OMIM:105830
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Short neck, Mi... ORPHA:2879
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... OMIM:276820
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Tremor, Chorea, Oculomotor apraxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, ... OMIM:606002
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Microretrognathia, Sacral dimple, Dystonia, Ataxia, Short neck, Oral-pharyngeal dysph... OMIM:300966
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Aggressive behavior, Micr... OMIM:309520
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence OMIM:146500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Distal Duplication 17Q
Accessory spleen, Hallux valgus, Hyperactivity, Arachnodactyly, Rhizomelia, Overlapping toe, Micr... ORPHA:3379
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelination, Spasticity OMIM:618527
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Tics, C... OMIM:619475
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Lumbar hyperlordosis, Broad hallux, Sandal gap, Aggressive behavior, Hyperlordosis... OMIM:616078
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Wilson Disease
Acute hepatic failure, Tremor, Hand tremor, Pedal edema, Limb dystonia, Hepatic steatosis, Hypopa... OMIM:277900
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... OMIM:610042
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Tapered finger, Attention... OMIM:619680
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... ORPHA:1827
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis OMIM:613987
Cousin Syndrome
Short neck, Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen... OMIM:260660
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Impaired vibratory sensation, Somatic sensory dysfunction, Abnormal peripheral myelination, Tremo... ORPHA:466768
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... ORPHA:273
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Rhizomelia, Micrognathia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, ... OMIM:616271
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... OMIM:208500
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Myhre Syndrome
Vertebral fusion, Ataxia, Overlapping toe, Short neck, Cryptorchidism, Short toe, 2-3 toe syndact... OMIM:139210
Spastic Paraplegia 29, Autosomal Dominant
Lower limb spasticity, Hyperactivity, Clonus, Babinski sign, Spastic paraplegia, Upper limb spast... OMIM:609727
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Lower limb spasticity, Ataxia, Foot joint contractur... ORPHA:90321
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... OMIM:114290
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Positional foot deformity, Spastic tetraplegi... ORPHA:572798
Joubert Syndrome
Ataxia, Tremor, Abnormal form of the vertebral bodies, Hand polydactyly, Gait disturbance, Foot p... ORPHA:475
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Abnormal myelination ORPHA:289266
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Distal Deletion 12Q
Short neck, Micrognathia, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the 3rd fi... ORPHA:96149
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Tremor, Babinski sign, 2-3 toe syndactyly, Irritability, Glucose intolerance, Hypertonia, Cirrhos... OMIM:616539
Charcot-Marie-Tooth Disease Type 4B2
Pes planus, Kyphoscoliosis, Tremor, Inability to walk, Abnormal foot morphology, Vocal cord paral... ORPHA:99956
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Ataxia, Tremor, Cryptorchidism, Intention tremor OMIM:614052
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Alternating Hemiplegia Of Childhood
Skewfoot, Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity... ORPHA:2131
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polydactyly, Postaxial h... OMIM:236680
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Short neck, Hypopl... OMIM:228520
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Fa... ORPHA:25
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Ataxia, Tremor, Metaphyseal sclerosis, Osteoporosis, Abnorm... OMIM:612199
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Agitation, Myoclonus, Hepatic f... ORPHA:43116
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykin... OMIM:601104
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... ORPHA:309854
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Ataxia, Micrognathia, Bilateral cryptorchidism, Tremor, Centra... ORPHA:2754
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... OMIM:270400
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Extrapyramidal muscular rigidity, Dystonia, Tre... ORPHA:51
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Early Infantile Epileptic Encephalopathy
Hyperactivity, Precocious puberty, Tremor, Spasticity, Choreoathetosis, Self-injurious behavior, ... ORPHA:1934
Osteogenesis Imperfecta, Type Viii
Osteopenia, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Femoral bowing, Tibi... OMIM:610915
Tsh-Secreting Pituitary Adenoma
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... ORPHA:91347
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Hyperactivity, Toe syndactyly, Hypospadias, Anterior pituitary hypoplasia, Arachno... ORPHA:464306
Monosomy 18Q
Bilateral cryptorchidism, Patent ductus arteriosus, Poor coordination, Choreoathetosis, Abnormal ... ORPHA:1600
Hyperlysinemia
Hyperactivity, Neck hypertonia, Poor motor coordination, Craniosynostosis, Spastic tetraparesis, ... ORPHA:2203
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... OMIM:214800
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Arachnodactyly, Akinesia, Aggressive behavio... ORPHA:86309
Triosephosphate Isomerase Deficiency
Dystonia, Tremor, Splenomegaly, Jaundice, Kyphosis, Unsteady gait, Cholecystitis, Prolonged neona... OMIM:615512
Mend Syndrome
Hyperactivity, Sacral dimple, Broad hallux, Overlapping toe, Aggressive behavior, Micrognathia, C... ORPHA:401973
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Micrognathia, Short metatarsal, Femoral bowing, Tibial bo... OMIM:304120
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Kinsship Syndrome
Osteopenia, Pes planus, Sacral dimple, Spastic tetraparesis, Short neck, Micrognathia, Coxa valga... OMIM:619297
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Tremor, Abnormality of the pancreas, Jaundice, Depression, Abnorma... ORPHA:69665
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hepatic hema... OMIM:193300
Mend Syndrome
Microretrognathia, Hyperactivity, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyp... OMIM:300960
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Short neck, Cryptorchidism, Long fingers, Polysplenia, Attention deficit hyperacti... OMIM:614294
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hyp... ORPHA:447753
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Hallux valgus, Pes planus, Ataxia, Kyphoscoliosis, Impulsivity, Aggressive behavi... OMIM:300967
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Abnormal myelination ORPHA:352682
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Ulbright-Hodes Syndrome
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal ... ORPHA:3404
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Back pain, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic ... ORPHA:892
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the cervical spine, Hyperactivity, Hypospadias, Broad hallux, Impulsivity, Aggress... ORPHA:353281
Orofaciodigital Syndrome Type 4
Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognathia, Aplasia/Hypopla... ORPHA:2753
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:424
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Finger syndactyly, Brachydactyly, Ataxia, Tarsal synostosis, Micro... ORPHA:2750
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Ir... ORPHA:1578
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short palm, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Micrognathia, 2-3 toe c... OMIM:614756
Gaucher Disease
Osteopenia, Hepatomegaly, Increased bone mineral density, Ataxia, Tremor, Splenomegaly, Hemiplegi... ORPHA:355
Cranioectodermal Dysplasia 1
Hepatomegaly, Brachydactyly, Broad toe, Rhizomelia, Short humerus, Malformation of the hepatic du... OMIM:218330
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Gabriele-De Vries Syndrome
Waddling gait, Hallux valgus, Sandal gap, Decreased response to growth hormone stimulation test, ... ORPHA:506358
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormality of th... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormality of th... ORPHA:353277
Williams Syndrome
Osteopenia, Hypoplasia of penis, Micrognathia, Tremor, Abnormal form of the vertebral bodies, Dys... ORPHA:904
Tibial Hemimelia
Absent tibia OMIM:275220
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypoplasti... ORPHA:3455
Vici Syndrome
Abnormal posturing, Penile hypospadias, Abnormal thymus morphology OMIM:242840
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Decreased response to ... ORPHA:67045
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Short neck, Micrognathia, Talipes calcaneovalgus, Micropenis, Paroxysmal bursts of... OMIM:309580
African Trypanosomiasis
Tremor, Choreoathetosis, Hepatomegaly, Abnormal central motor function, Paralysis, Abnormality of... ORPHA:3385
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Dystonia, Inability to walk, Chorea, Delayed myelination, Athetosis, Hyperkinetic movements, Myoc... ORPHA:404454
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination OMIM:617333
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniofacial osteosclerosis, Osteopathi... OMIM:300373
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Sotos Syndrome
Tremor, Pedal edema, Hypothyroidism, Abnormal vertebral morphology, Hypospadias, Cryptorchidism, ... ORPHA:821
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Hip subluxation... ORPHA:444077
Cockayne Syndrome Type 3
Unsteady gait, Difficulty walking, Abnormal myelination, Demyelinating peripheral neuropathy, Int... ORPHA:90324
Orofaciodigital Syndrome Type 14
Bilateral cryptorchidism, Epispadias, Patent ductus arteriosus, Abnormal myelination ORPHA:434179
Degcags Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Vocal cord paralysis, Chordee, Abnormal my... OMIM:619488
Noonan Syndrome 1
Male infertility, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hypogonadism OMIM:163950
Cystic Fibrosis
Male infertility OMIM:219700

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 Gal3st1

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 Gal3st1.

No publications found that use IMPC mice or data for Gal3st1.

Order Mouse and ES Cells

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
Gal3st1em1(IMPC)Rbrc Intra-exon deletion Mice
Gal3st1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Gal3st1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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