Gene Summary

Name:
claudin 11
Synonyms:
Otm,  Osp,  oligodendrocyte-specific protein

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Cldn11em1(IMPC)H HOM Early adult 1.87×10-12
abnormal gait Cldn11em1(IMPC)H HOM Early adult 4.22×10-13
increased startle reflex Cldn11em1(IMPC)H HOM   Early adult 1.48×10-07
increased blood urea nitrogen level Cldn11em1(IMPC)H HOM   Early adult 3.32×10-05

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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.

Phenotype associated images not available

Human diseases caused by Cldn11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Cldn11 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukodystrophy, Hypomyelinating, 22
Inability to walk OMIM:619328

The table below shows human diseases predicted to be associated to Cldn11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Bilateral sensorineural hearing impairment, Reduced s... OMIM:611102
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spastic Paraparesis And Deafness
Hypogonadism, Tremor, Spastic paraparesis, Hearing impairment OMIM:312910
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Immunodeficiency 8
Hyperactivity OMIM:615401
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... ORPHA:98798
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mohr-Tranebjaerg Syndrome
Optic atrophy, Vestibular dysfunction, Babinski sign, Abnormality of somatosensory evoked potenti... ORPHA:52368
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Decreased nerve con... OMIM:601455
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Acroparesthesia, Abnormality of visua... ORPHA:206443
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... ORPHA:1215
Cln5 Disease
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Atrophy/Degeneration affecting the... ORPHA:228360
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Hearing impairment, Tremor, Impaired vibratory sensation, Spasticity, Gait at... ORPHA:217012
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged s... OMIM:616648
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility, Hearing impairment OMIM:608653
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Neurodegeneration, Ne... OMIM:256600
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function, Undetectable electroretinogram OMIM:276900
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Vertigo, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Krabbe Disease
Progressive spasticity, Optic atrophy, Abnormal flash visual evoked potentials, Neurodegeneration... OMIM:245200
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility ORPHA:276183
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... OMIM:601152
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Sensorineural heari... ORPHA:1933
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Hearing impairment, Hypertonia, EEG abnor... ORPHA:141
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Impaired proprioception, Cerebellar atrophy, Abnormality of somat... ORPHA:98755
Spinocerebellar Ataxia 32
Testicular atrophy, Cerebellar atrophy, Infertility, Azoospermia, Ataxia OMIM:613909
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Optic Atrophy 2
Tremor, Optic atrophy, Dysdiadochokinesis, Babinski sign OMIM:311050
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Sensorineural hearing impairment, Hyperto... ORPHA:2971
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... ORPHA:261529
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Xq12-Q13.3 Duplication Syndrome
Cleft earlobe, Optic disc pallor, Abnormality of visual evoked potentials, Decreased serum insuli... ORPHA:314389
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... OMIM:125250
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment OMIM:600501
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Azoospermia, Torticollis, Intention tremor, Hypergonadotropic h... OMIM:613724
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormality of visual evoked potentials, EEG with series of focal spikes, EEG... ORPHA:168491
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials, Ataxia, Spasti... ORPHA:99852
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function, Hearing impairmen... OMIM:165300
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Babinski sign, Impaired vibration sensation at ankles, Infertility, Ce... ORPHA:320391
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Gait disturbance, Bradykinesia, Tremor OMIM:168100
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Premature ovarian insufficiency, Spasticit... OMIM:615889
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Clumsiness, Optic disc pallor, Cerebellar atrophy, Undetectable electroretinogram, Frequent falls... ORPHA:1947
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials, Choreoathetosis, Hearing impairment, Atax... ORPHA:702
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Optic atrophy, Babinski sign, Abnormality of visual evoked potentials, Frequent falls... ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Optic atrophy, Babinski sign, Neoplasm of the gallbladder, Orthostatic hypotension du... ORPHA:309271
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Dysmetria, Tremor, Ataxia, Hypertonia, Dysdiadochokinesi... ORPHA:96
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Azotemia, Familial
Azotemia OMIM:109160
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Friedreich Ataxia
Impaired proprioception, Optic atrophy, Babinski sign, Abnormality of visual evoked potentials, D... OMIM:229300
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Optic atrophy, Babinski sign, Abnormality of visual evoked potentials, Frequent falls... ORPHA:309256
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Infantile Krabbe Disease
Optic atrophy, Abnormality of visual evoked potentials, Opisthotonus, Myoclonus, Hyperesthesia, D... ORPHA:206436
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Hearing impairment, Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Spinocerebellar Ataxia 43
Rigidity, Tremor, Cerebellar vermis atrophy, Ataxia, Distal sensory impairment, Limb ataxia, Gait... OMIM:617018
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma... ORPHA:99
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Myoclonus, Cogwheel rigidity, Limb dysmetria, Sensorineural hearing i... ORPHA:363710
Micro Syndrome
Hypoplastic labia minora, Optic atrophy, Abnormality of visual evoked potentials, Low-set, poster... ORPHA:2510
Warburg Micro Syndrome 2
Hypoplastic labia majora, Optic atrophy, Asymmetry of the ears, Global brain atrophy, Macrotia, M... OMIM:614225
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cerebellar atrophy, Hypogonadism, Tremor, Truncal ataxia, Spasticity, Ankle clonus... OMIM:615768
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Congenital sensorineural hearing impa... ORPHA:432
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the ... ORPHA:99027
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Adult onset sensorineural hearing impairment, Sensorineural ... ORPHA:1368
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:601068
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Macrotia, Low-set ears, Poor fine motor coordination, Incoordination, Undetectable visual evoked ... ORPHA:436245
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism OMIM:614307
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potential... ORPHA:35069
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Hearing impairment, Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Optic atrophy, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Sensorine... OMIM:270500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis, Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairm... OMIM:617519
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Gabriele-De Vries Syndrome
Tremor, Cryptorchidism, Abnormality of the pinna, Posteriorly rotated ears OMIM:617557
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia OMIM:615703
Spastic Paraplegia 46, Autosomal Recessive
Upper limb dysmetria, Babinski sign, Knee clonus, Cerebellar atrophy, Infertility, Upper limb spa... OMIM:614409
Metachromatic Leukodystrophy
Progressive spasticity, Neoplasm of the gallbladder, Abnormality of visual evoked potentials, Fre... ORPHA:512
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Decreased sensory nerve ... OMIM:609260
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Undetectable electroretinogram, Increased ne... OMIM:204500
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Ataxia OMIM:165500
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
White-Sutton Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Posteriorly rotated ears, Abnormality of ... OMIM:616364
Mogs-Cdg
Optic atrophy, Abnormality of visual evoked potentials, Inappropriate antidiuretic hormone secret... ORPHA:79330
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Abnormal electroretinogram OMIM:165510
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Limb hypertonia, Diffuse cerebellar atrop... ORPHA:480898
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy OMIM:618195
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Chronic otitis media, Stereotypy, Tremor, At... ORPHA:10
Adult Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Babinski sign, Hoffmann sign, Acropar... ORPHA:206448
Retinitis Pigmentosa
Conductive hearing impairment, Optic atrophy, Type II diabetes mellitus, Hypogonadism, Abnormal t... ORPHA:791
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, Spasticity, Cerebral atrophy OMIM:609304
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Hearing impairment, Tremor, Ataxia ORPHA:101078
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Thymic hormone decreased, Abnormality of visu... OMIM:216400
49,Xyyyy Syndrome
Azoospermia, External genital hypoplasia, Low-set, posteriorly rotated ears, Increased circulatin... ORPHA:99330
Ruvalcaba Syndrome
Cryptorchidism, Abnormality of visual evoked potentials, Abnormal electroretinogram, Delayed puberty ORPHA:3121
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... OMIM:601596
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Cerebellar atrophy, Limb hypertonia, Abnormality of visual evoked potentials, Corp... OMIM:616875
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Abnormal mitochondrial shape, Optic disc pallor, Cerebellar atrophy, Abnormality o... ORPHA:485421
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent lipopigment,... ORPHA:79263
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Cerebellar atrophy, Tongue fasciculations, Dysmetria, Hearing impairment, Tremor, ... OMIM:618170
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Babinski sign, Clonus, Optic disc pallor, Limb hypertonia, Diabetes insipidus, Sensorineural hear... ORPHA:423479
Cerebrotendinous Xanthomatosis
Abnormal auditory evoked potentials, Global brain atrophy, Axonal degeneration, Paraparesis, Abno... ORPHA:909
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Ring Chromosome 21 Syndrome
Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, EEG abnormality, Spasticity ORPHA:1445
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials, Frequent falls OMIM:617523
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Cerebellar atrophy, Dysmetria, Bradykinesia, Hearing impairment, Intention tremo... OMIM:300623
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Babinski sign, Choreoathetosis, Spastic gait, Macrotia, Bradykinesia, EEG with ge... OMIM:300055
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Peho Syndrome
Optic atrophy, Cerebellar atrophy, Neuronal loss in central nervous system, Myoclonus, Hypsarrhyt... OMIM:260565
Riboflavin Transporter Deficiency
Progressive hearing impairment, Optic disc pallor, Abnormal cranial nerve morphology, Diabetes in... ORPHA:97229
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Usher Syndrome Type 1
Abnormal cochlea morphology, Subcortical cerebral atrophy, Sensorineural hearing impairment, Atax... ORPHA:231169
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Conductive hearing impairment, Azoospermia OMIM:601076
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Macrotia, Abnormal electroretinogram, Low-set ears, Cryptorc... ORPHA:166035
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Impaired pain sensation, Hearing impairment, Tremor, Ataxia, Paraparesis, Abnormal... ORPHA:99014
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, Hemiplegia, Abnormal py... OMIM:614561
Opticocochleodentate Degeneration
Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Hyperactivity, Ataxia, Transient hyperphenylalaninemia OMIM:612716
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Jerk-locked premyoclonus spikes, Enhancement of the C-reflex OMIM:615127
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Mpdu1-Cdg
Optic atrophy, Decreased serum insulin-like growth factor 1, Hypsarrhythmia, Hypertonia, Undetect... ORPHA:79323
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Low-set ears, Posteriorly rotated ears ORPHA:163961
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Vertigo, Bradykinesia, Isometric t... ORPHA:101110
Spinocerebellar Ataxia Type 38
Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction ORPHA:423296
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Hypogonadotropic hypogonadism, Hemiplegia/hemiparesis, Abnormality of the hypothal... ORPHA:1173
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Ataxia OMIM:239500
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Optic atrophy, Babinski sign, Abnormality of visual evok... OMIM:231550
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, Bradykinesi... OMIM:615157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Impaired distal proprioception, Rigidity, Facial palsy,... OMIM:157640
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Abnormality of visual evoked potentials ORPHA:1389
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials, Abno... OMIM:133540
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Low-set ears, Decreased response to growth hormone s... ORPHA:280679
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Hypertonia, Brain atrophy, Spastic tetraplegia, Abnormality of visual evoked potentials OMIM:614457
Young Syndrome
Azoospermia OMIM:279000
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials, Abnorma... OMIM:125310
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Tremor, Fasciculations, Decreased fertility OMIM:313200
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Usher Syndrome Type 3
Sensorineural hearing impairment, Ataxia, Abnormal electroretinogram, Vestibular hypofunction, Ab... ORPHA:231183
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Spinocerebellar Ataxia 37
Tremor, Ataxia, Cerebellar atrophy, Frequent falls OMIM:615945
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Cer... OMIM:617862
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Paralysis, Cerebellar atrophy, Abnormality of visual evoked potentials, Bile duct proliferation, ... OMIM:203700
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Hearing impairment, Tremor, Progressive cerebellar ataxia, Abnorma... ORPHA:139485
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Tremor, Fasciculations, Degeneration of anterior horn... ORPHA:65684
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Broad-based gait OMIM:619470
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Cerebellar atrophy, Rigidity, Choreoathetosis, Hearing impairment, Tremor, Ataxia,... OMIM:612438
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, ... ORPHA:251282
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Cerebellar atrophy, Spasticity OMIM:616494
Hsd10 Disease
Optic atrophy, Rigidity, Choreoathetosis, Myoclonus, Hearing impairment, Tremor, Ataxia, Frontote... ORPHA:391417
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... OMIM:300200
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia OMIM:141500
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormality of the pinna, Tremor, Ataxia, Spasticity, Cerebral cortical atrophy OMIM:300983
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Impaired pain sensation, Cervical spinal cord atrophy, Opti... ORPHA:101085
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Hypergonadotropic hypogonadism, Low-set ears, Decreased response to growth hormone s... OMIM:300845
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Glycine Encephalopathy
Hyperactivity, Hyperglycinemia, Lethargy OMIM:605899
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Dysmetria, Hearing impairment, Tremor, Oculomotor apraxia, Dysdiadochokinesis... OMIM:617145
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormal electroretinogram, Ataxia ORPHA:2246
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Sensorineural hearing impairment, Tremor, ... ORPHA:2590
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Sensorineural hearing impairment, Tremor, Hypertonia, Type I diabetes mellitus, Cryptorchidism, C... ORPHA:1192
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... OMIM:617384
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Babinski sign, Cerebellar atrophy, Frequent falls, Dys... OMIM:302800
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... ORPHA:2232
Wolfram Syndrome 1
Testicular atrophy, Optic atrophy, Diabetes insipidus, Sensorineural hearing impairment, Tremor, ... OMIM:222300
Maternal Uniparental Disomy Of Chromosome X
Primary gonadal insufficiency, Ambiguous genitalia, Gonadal tissue inappropriate for external gen... ORPHA:261519
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
X-Linked Retinoschisis
Abnormal electroretinogram ORPHA:792
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Abnormality of somatosensory evoked potentials, Motor ... ORPHA:206594
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, Dysmetria, Neuronal loss in central nervous system, Tremor, Im... OMIM:610245
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of extra... ORPHA:289494
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tremor, Abnormal sensory nerve conduction velocity, Tongue fasciculations, Impair... ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:607317
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Macular Dystrophy, Vitelliform, 2
Abnormal electroretinogram OMIM:153700
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia OMIM:238700
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Long-segment aganglionic megacolon, Absent brainstem auditory responses, Decreased nerve conducti... OMIM:609136
Ring Chromosome 22 Syndrome
Gait ataxia, Macrotia, Impaired pain sensation, Azoospermia ORPHA:1446
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Spasticity, Ce... ORPHA:33445
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Cerebellar atrophy OMIM:616187
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Rigidity, Abnormal electroretinogram, Spasticity, Cerebral atrophy OMIM:616211
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Behr Syndrome
Progressive spasticity, Optic atrophy, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia OMIM:210000
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Low-set ears, Ataxia OMIM:618951
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Optic atrophy, Progressive spasticity, Cerebellar atrophy, Babinski sign, Impaired di... ORPHA:137898
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials, Limb ataxia, Truncal ataxia OMIM:619051
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Tremor, Ataxia, Incoordination, Abnormal pyramidal sign OMIM:614947
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Optic atrophy, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Up... ORPHA:216873
Classic Galactosemia
Decreased fertility in females, Secondary amenorrhea, Clumsiness, Postural tremor, Oligomenorrhea... ORPHA:79239
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Tremor, Abnormal peripheral action potential amplitude, Distal sensory impai... ORPHA:90117
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Kallmann Syndrome
Hypoplasia of penis, Abnormal morphology of female internal genitalia, Paraplegia, Hypogonadotrop... ORPHA:478
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atr... OMIM:619092
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal electroretinogram, Spasticity, Postlingual sensorineural hearing impairment, Pro... OMIM:304700
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Anteverted ears, Poor coordination, Abnormality of pain sensation, Macrotia, Tremor,... ORPHA:544254
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... OMIM:600363
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment ORPHA:79234
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Fasciculations, Sp... OMIM:611302
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Abnormality of the pinna, Hypogonadism, Cerebellar vermis atrophy, Micropenis, Tremo... OMIM:300354
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... ORPHA:98763
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, EEG with polyspike wave complexes, Truncal ataxia, Gait ataxia, EEG wi... OMIM:618587
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor function, Br... OMIM:300894
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Paraplegia, Hearing impairment, Tremor, Hem... OMIM:105210
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Cerebellar atrophy, Undetectable electror... OMIM:619260
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Bardet-Biedl Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ovary, Hearing impairment, Hypogonadism, Abn... ORPHA:110
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Multiple System Atrophy
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... ORPHA:102
Autosomal Recessive Spastic Paraplegia Type 11
Progressive spasticity, Orthostatic hypotension, Abnormality of extrapyramidal motor function, Pa... ORPHA:2822
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tr... OMIM:164500
Leber Congenital Amaurosis
Abnormality of the optic disc, Abnormal electroretinogram, Hemiplegia/hemiparesis, Hearing impair... ORPHA:65
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Glut1 Deficiency Syndrome 2
Choreoathetosis, Tremor, Ataxia, EEG abnormality, Cerebral atrophy OMIM:612126
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... OMIM:619274
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia OMIM:619553
Morm Syndrome
Hyperactivity ORPHA:75858
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, EEG with photoparoxysmal response, Giant somatosensory evoked po... OMIM:607876
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hypospadias, Babinski sign, Optic neuropathy, Optic disc pallor, Cerebellar atrophy, Sensorineura... OMIM:252010
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Tremor, Hyperactivity, Resting tremor, Broad-based gait ORPHA:3077
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Oculomotor apraxia, Tremor, Ataxia OMIM:614867
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Prolonged somatosensory evoked potentials, Myoclonus, Tremor OMIM:608105
Xeroderma Pigmentosum, Complementation Group F
Tremor, Ataxia, Brain atrophy, Hearing impairment OMIM:278760
48,Xxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Chronic otitis media, Small scrotum, Hypogon... ORPHA:96263
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations, Degenerat... OMIM:159950
Bloom Syndrome
Protruding ear, Type II diabetes mellitus, Azoospermia, Cryptorchidism, Decreased fertility in fe... OMIM:210900
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Spastic paraparesis, Tremor ORPHA:101077
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Central nervous system degeneration, Clumsiness, Babinski sign, Chorea, Glo... ORPHA:282166
Intellectual Developmental Disorder, X-Linked 12
Sensorineural hearing impairment, Tremor, Hyperkinetic movements, Spasticity, Cryptorchidism, Mic... OMIM:300957
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor ORPHA:66633
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Machado-Joseph Disease
Babinski sign, Cerebellar atrophy, Rigidity, Abnormal electrooculogram, Abnormality of extrapyram... OMIM:109150
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... ORPHA:240103
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Choreoathetosis, Tremor, Ataxia, Bilateral sensorineural hearing impairment, Cereb... OMIM:619422
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, EEG abnormality, Apraxia, Spasticity, Gait ... OMIM:617810
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Upper limb spasticity, Macrotia, Stereotypy, Tremor, Micropenis, Hyperkinetic movements, Decrease... ORPHA:457240
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... ORPHA:98933
49,Xxxxy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Chronic otitis media, Small scrotum, Hypogon... ORPHA:96264
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Rigidity, Decreased sensory nerve conduction velocity,... OMIM:603472
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Tremor OMIM:619473
Familial Glucocorticoid Deficiency
Decreased circulating aldosterone level, Testicular adrenal rest tumor, Adrenal insufficiency, Co... ORPHA:361
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Distal sensory impairment, Gait ataxia OMIM:618387
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Cockayne Syndrome Type 1
Optic atrophy, Macrotia, Absent brainstem auditory responses, Lower limb spasticity, Hearing impa... ORPHA:90321
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Pontocerebellar atrophy, Tremor, Oculomotor apraxia, Eyelid myoclonus, Ataxia, Incoordination, Ab... OMIM:618060
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Bradykinesia, Tremor, Ataxia, EEG abnormality OMIM:617836
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
H Syndrome
Amenorrhea, Azoospermia, Hearing impairment, Hypogonadism, Micropenis, Diabetes mellitus, Decreas... ORPHA:168569
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormal electroretinogram ORPHA:1574
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Hyperactivity, Inability to walk OMIM:618718
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... ORPHA:227510
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Parkinsonism... ORPHA:329284
Retinitis Pigmentosa 31
Abnormal electroretinogram OMIM:609923
Atypical Rett Syndrome
Involuntary movements, Limb myoclonus, Impaired pain sensation, Tongue thrusting, Tremor, Stereot... ORPHA:3095
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder, Maternal hyperphenylalaninemia, Hyperphe... OMIM:261600
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Ataxia, Cerebellar atrophy, Tremor OMIM:617917
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign OMIM:612016
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Rigidity, Global brain atrophy, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsoni... OMIM:612953
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... ORPHA:314632
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia, EEG abnormality OMIM:617831
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... OMIM:616719
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression, Hearing impairment, Tremor, Oti... ORPHA:667
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Cerebellar atrophy, Tremor, Diffuse cerebral atrophy, Delayed menarche ORPHA:330050
3-Methylglutaconic Aciduria, Type Viii
Sensorineural hearing impairment, Tremor, Hypertonia, Cerebral atrophy OMIM:617248
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Retinitis Pigmentosa 39
Abnormal electroretinogram OMIM:613809
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Cerebellar atrophy, Scissor gait, Bradykinesia, Tremor, Ankle clonus, Spasticity, ... ORPHA:521406
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Hearing impairment, Tremor, Ataxia, Hyperthyroidism, Dysdiadochokinesis, Distal sensor... OMIM:617675
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Tremor, Ataxia, Decreased testicular size, Decreased serum testosterone concentration OMIM:201100
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Jaberi-Elahi Syndrome
Optic atrophy, Cerebellar atrophy, Choreoathetosis, Dysmetria, Tremor, Spasticity, Low-set ears, ... OMIM:617988
Pelizaeus-Merzbacher Disease
Optic atrophy, Head titubation, Choreoathetosis, Hearing impairment, Tremor, Ataxia, Progressive ... OMIM:312080
Hypermanganesemia With Dystonia 2
Babinski sign, Cerebellar atrophy, Bradykinesia, Tremor, Ankle clonus, Spasticity, Cerebral atrop... OMIM:617013
8P11.2 Deletion Syndrome
Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Hypog... ORPHA:251066
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Ataxia OMIM:619028
Spinocerebellar Ataxia 48
Babinski sign, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gait ataxia OMIM:618093
Sorsby Fundus Dystrophy
Abnormal electroretinogram OMIM:136900
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen, Hyperuricosuria ORPHA:94088
Ataxia-Telangiectasia
Type II diabetes mellitus, Polycystic ovaries, Tremor, Abnormal testis morphology, Ataxia, Diabet... ORPHA:100
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti... ORPHA:397946
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Uremic Pruritus
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia ORPHA:94059
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Leigh Syndrome With Nephrotic Syndrome
Undetectable visual evoked potentials, EEG with focal spikes ORPHA:255249
Myotonic Dystrophy 1
Testicular atrophy, Facial diplegia, Cholelithiasis, Hypogonadism, Cerebral atrophy OMIM:160900
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Limb dystonia ORPHA:363400
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment OMIM:193700
Usher Syndrome Type 2
Subcortical cerebral atrophy, Sensorineural hearing impairment, Abnormality of the inner ear, Ata... ORPHA:231178
Spinocerebellar Ataxia Type 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Atrophy/Degeneration a... ORPHA:458803
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Spastic tetraplegia, Vestibular areflexia, ... ORPHA:3240
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Chronic otitis media, Hearing impairment, Tremor, Spastic diplegia, Low-set ears, Protruding ear ORPHA:480907
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Low-set ears OMIM:601163
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Global brain atrophy, Tremor, Dysdiadochokinesis, Truncal ataxia OMIM:610185
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormal electroretinogram, Facial palsy, Hemiplegia ORPHA:2743
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Male infertility OMIM:612444
Sialidosis Type 2
Tremor, Ataxia, Hearing impairment ORPHA:87876
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia, Cerebral atrophy OMIM:618637
Usher Syndrome
Vestibular areflexia, Sensorineural hearing impairment, Ataxia, Abnormal electroretinogram, Vesti... ORPHA:886
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Truncal ataxia, Tremor OMIM:616127
Parkinson Disease 2, Autosomal Recessive Juvenile
Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Parkinsonism OMIM:600116
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, ... OMIM:617435
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, EEG abnormality, Spasti... ORPHA:529665
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Menometrorrhagia ORPHA:79430
Hyperphenylalaninemia, Bh4-Deficient, A
Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Parkinsonism OMIM:261640
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal electroretinogram, Hypertonia, Low-set, posteriorly rotated ears ORPHA:1390
Woodhouse-Sakati Syndrome
Protruding ear, Streak ovary, Choreoathetosis, Insulin-resistant diabetes mellitus, Hypoplasia of... ORPHA:3464
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism OMIM:615528
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy ORPHA:529799
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Abnormality of visual evoked potentials, Facial palsy ORPHA:258
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Poor motor coordination, Dysmetria, Tremor, Cerebellar vermis atrophy, Oculom... ORPHA:1170
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Atrophy/Degeneration affecting the brainstem, Lower limb spasticity, Repetitive co... ORPHA:66634
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia OMIM:235400
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ... OMIM:614831
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Abnormal electroretinogram, Macrotia ORPHA:1154
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Spinocerebellar Ataxia 42
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... OMIM:616795
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Optic atrophy, Limb hypertonia, Rigidity, EEG with multifocal slow activit... ORPHA:442835
Corticobasal Syndrome
Involuntary movements, Oromotor apraxia, Limb myoclonus, Limb apraxia, Myoclonus, Bradykinesia, S... ORPHA:454887
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Dysmetria, Hearing impairment, Tremor, Progressive cerebellar ataxia, Hyperthy... ORPHA:502423
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia OMIM:618314
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Abnormal electroretinogram OMIM:616781
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Choreoathetosis, Axonal degeneration, Tremor, Oculomotor apraxia, Ataxia, Dis... OMIM:208920
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity OMIM:618342
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Azoospermia, Hearing impairment, Sensorineural hearing impairment, Micrope... OMIM:602782
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Male infertility, Immotile sperm OMIM:614874
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia OMIM:271980
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Facial diplegia, Decreased sensory nerve conduction ve... OMIM:218000
Sialidosis Type 1
Myoclonus, Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Ataxia,... ORPHA:812
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Tremor, Large fleshy ears, Hypertonia, Ataxia OMIM:619556
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Cerebellar atrophy, Dysmetria, Myoclonus, Intention tremor, Tremor,... OMIM:616505
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Tremor, Ataxia, Incoordination, Poor fine motor coordination, Generalized cerebral ... ORPHA:36387
Myoclonic-Atonic Epilepsy