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Gene: Cldn11 MGI:106925

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Gene Summary

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

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 gait Cldn11em1(IMPC)H HOM Early adult 2.48×10-13
increased blood urea nitrogen level Cldn11em1(IMPC)H HOM   Early adult 3.09×10-05
male infertility Cldn11em1(IMPC)H HOM Early adult 0.00
hyperactivity Cldn11em1(IMPC)H HOM Early adult 2.01×10-12
increased startle reflex Cldn11em1(IMPC)H HOM   Early adult 9.11×10-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Echo

M-Mode Images

32 Images

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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
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, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Azoospermia, Hypergonadotropic hypogonadism, Intention tremor, Head tremor, Hearing ... OMIM:613724
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abn... ORPHA:320401
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Prelingual sensorineural hearing impairment, Oromandibular dystonia... ORPHA:52368
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Bilateral sensorineur... OMIM:611102
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spastic Paraparesis And Deafness
Hearing impairment, Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, S... OMIM:601455
Spastic Paraplegia 79B, Autosomal Recessive
Hoffmann sign, Babinski sign, Optic atrophy, Impaired proprioception, Impaired vibration sensatio... OMIM:615491
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Bradykinesia, Optic atrophy, Progressive sensorineural hearing impairment, Truncal ataxia, Undete... OMIM:601338
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Decreased nerve cond... ORPHA:206443
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Recurrent otitis media, Absent sperm axoneme central pair... OMIM:301101
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Hearing impairment, Impaired vibratory sensa... ORPHA:217012
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H... OMIM:620085
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
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
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia OMIM:620448
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Hearing impairment, Tremor, Distal sensory impairment OMIM:614369
Spermatogenic Failure 17
Male infertility OMIM:617214
Schizophrenia 15
Hyperactivity OMIM:613950
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spinocerebellar Ataxia Type 1
Bradykinesia, Optic atrophy, Impaired proprioception, Progressive cerebellar ataxia, Abnormal fla... ORPHA:98755
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Vertigo, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Neuronal loss in central ne... OMIM:256600
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Abnormal amplitude of pattern rev... OMIM:125250
Mepan Syndrome
Optic atrophy, Cerebral atrophy, Axial dystonia, Chorea, Spasticity, Craniofacial dystonia, Cereb... ORPHA:508093
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Cerebellar atrophy, Testicular atrophy ORPHA:276183
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Krabbe Disease
Optic atrophy, Hypertonia, Decreased nerve conduction velocity, Abnormal flash visual evoked pote... OMIM:245200
Canavan Disease
Optic atrophy, Hypertonia, Hearing impairment, Abnormality of visual evoked potentials, EEG abnor... ORPHA:141
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Distal sensory impairment, Positive Romberg sign, Mild neurosensory hearing impair... OMIM:601152
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormality of visual evok... ORPHA:1933
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Cerebellar atrophy, Ataxia, Testicular atrophy OMIM:613909
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Ataxia With Vitamin E Deficiency
Hypertonia, Dysdiadochokinesis, Tremor, Abnormality of visual evoked potentials, Hemiplegia/hemip... ORPHA:96
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Hypertonia, Sensorineural hearing impairment, Low-set ears, Abnormality of visual ... ORPHA:2971
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebral atrophy, Undetectable electroretinogram, Abnormality of pattern visual evoked potentials... ORPHA:1947
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
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
Xq12-Q13.3 Duplication Syndrome
Hypsarrhythmia, Impaired pain sensation, Cleft earlobe, Abnormality of visual evoked potentials, ... ORPHA:314389
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal audi... OMIM:601382
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Gia... OMIM:601068
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Pelizaeus-Merzbacher Disease
Optic atrophy, Spasticity, Hearing impairment, Abnormality of visual evoked potentials, Cerebral ... ORPHA:702
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Hearing impairment, Optic di... OMIM:165300
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, EEG with spike-wave complexes, Cortical myoclonus, Spasticity, Cerebellar atrop... ORPHA:168491
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Decerebrate rigidity, Spastici... ORPHA:309263
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor, ... OMIM:617523
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Chorea, Decerebrate rigidity, ... ORPHA:309271
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Autosomal Recessive Spastic Paraplegia Type 46
Cerebral atrophy, Babinski sign, Abnormal sperm head morphology, Spastic dysarthria, Impaired vib... ORPHA:320391
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Decerebrate rigidity, Spastici... ORPHA:309256
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Brain atrophy, Spasticity, Abnormality of visual evoked potentials, EEG with bu... OMIM:609304
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Friedreich Ataxia
Limb ataxia, Babinski sign, Decreased sensory nerve conduction velocity, Optic atrophy, Impaired ... OMIM:229300
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait ataxia, Hyp... OMIM:617145
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Spasticity, Abnormal auditory evoked potentials, At... ORPHA:99852
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,... OMIM:617018
Micro Syndrome
Optic atrophy, Delayed puberty, Low-set, posteriorly rotated ears, Hypoplasia of penis, Spasticit... ORPHA:2510
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Unsteady gait, Aggressive behavior OMIM:301107
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Hearing impairment, Bicornuate uterus, Azoospermia ORPHA:2578
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Sensorineural hearing impairment, Cogwheel... ORPHA:363710
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Adult ... ORPHA:1368
Warburg Micro Syndrome 2
Optic atrophy, Global brain atrophy, Undetectable visual evoked potentials, Macrotia, Small scrot... OMIM:614225
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Hearing impairment, Ataxia ORPHA:101075
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Erectile dysfunction, Sensorineural hearing impairment, Atrophy/Degeneration affect... ORPHA:99027
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:607453
Deleted in azoospermia
Azoospermia OMIM:400003
Epilepsy, Familial Adult Myoclonic, 4
Enhancement of the C-reflex, EEG with polyspike wave complexes, Tremor, Myoclonus, Jerk-locked pr... OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Hypogonadism,... OMIM:615768
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Increased female libido, Hypoplasia of the uterus, Male hypog... ORPHA:432
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Sensorineural hearing impairment, Inappropriate antid... ORPHA:79330
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Exaggerated startle response OMIM:617028
Infantile Neuroaxonal Dystrophy
Optic atrophy, Spasticity, Progressive spasticity, Spastic tetraparesis, Abnormal autonomic nervo... ORPHA:35069
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Poor fine motor coordination, Attached earlobe, Low-set ea... ORPHA:436245
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Babinski sign, Cerebral atrophy, Lower limb spasticity, Ankle clonus, Upper limb dy... OMIM:614409
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Hypertonia, Distal sen... OMIM:609260
Epilepsy, Familial Adult Myoclonic, 3
Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, Myoclonus, Jerk-locke... OMIM:613608
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Hyperprolinemia, Aggressive behavior OMIM:239500
Optic Atrophy 1
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Ataxia OMIM:165500
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Optic Atrophy 5
Optic atrophy, Abnormality of pattern visual evoked potentials, Optic disc pallor OMIM:610708
Lichtenstein-Knorr Syndrome
Limb ataxia, Vestibular hypofunction, Sensorineural hearing impairment, Dysdiadochokinesis, Cereb... OMIM:616291
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Ataxia, Aggressive behavior OMIM:620270
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Impaired pain sensation, Tremor, Hearing impairment, Ataxia ORPHA:101078
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, Progressive sp... ORPHA:512
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Babinski sign, Limb hypertonia, Diabetes insipidus, Undetectable visual evoked potentials, Sensor... ORPHA:423479
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity, Tremor, Dystonia, Ataxia OMIM:615924
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Cerebral atrophy, Limb hypertonia, Brain atrophy, Cerebellar atrophy, Corpus callo... OMIM:616875
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Ruvalcaba Syndrome
Delayed puberty, Abnormality of visual evoked potentials, Cryptorchidism, Abnormal electroretinogram ORPHA:3121
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypergonadotropic h... OMIM:617872
48,Xxyy Syndrome
Chronic otitis media, Azoospermia, Hypoplasia of penis, Infertility, Tremor, Hypergonadotropic hy... ORPHA:10
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Acropar... ORPHA:206448
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Tremor, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Ataxia, Myoclonus, EEG with generalized epileptiform discharges OMIM:616187
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 75
Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormone level, Male inf... OMIM:619949
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Peho Syndrome
Optic atrophy, Hypsarrhythmia, Undetectable visual evoked potentials, Neuronal loss in central ne... OMIM:260565
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Hypertonia ORPHA:1389
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Dystonia, Ataxia, Abnormal pyra... OMIM:614561
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Ataxia, Palatal tremor, Optic atrophy, Babinski sign, Decreased nerve conduct... ORPHA:909
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormal mitochondrial shape,... ORPHA:485421
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Cerebral atrophy, Limb hypertonia, Abnormal pinna morphology, Corpus callosum atro... ORPHA:480898
Stxbp1-Related Encephalopathy
Hypsarrhythmia, Spasticity, Tremor, EEG with focal epileptiform discharges, Dystonia, Ataxia, EEG... ORPHA:599373
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Abnormality of the endocrine system, Low-set ear... ORPHA:166035
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Undetectable electroretinogram, Chorea, Spasticity, Tremor, Poor fine motor coo... ORPHA:79263
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
49,Xyyyy Syndrome
External genital hypoplasia, Low-set, posteriorly rotated ears, Azoospermia, Abnormality of the t... ORPHA:99330
Ring Chromosome 21 Syndrome
Azoospermia, Diabetes insipidus, Spasticity, Infertility, Amenorrhea, EEG abnormality ORPHA:1445
Lesch-Nyhan Phenotype With Normal Hgprt
Choreoathetosis, Self-mutilation, Hyperuricemia OMIM:308950
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Spastic tetraplegia, Abnormality of visual evoked potentials, Brain atrophy, Limb hypertonia OMIM:614457
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Babinski sign, Bradykinesia, Apraxia, Resting tremor, Tremor, Spastic paraplegia, M... OMIM:300055
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Paraparesis, ... ORPHA:99014
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Low-set ears... ORPHA:280679
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Vertigo, Cerebellar atrophy, Gait atax... ORPHA:101110
Spinocerebellar Ataxia 50
Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Heari... OMIM:620158
Deafness-Hypogonadism Syndrome
Delayed puberty, Abnormality of the internal auditory canal, Progressive sensorineural hearing im... ORPHA:90646
Mpdu1-Cdg
Optic atrophy, Decreased response to growth hormone stimulation test, Hypertonia, Absence of acou... ORPHA:79323
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Low-set ears, Undetectable visual evoked potentials, Posteriorly rotated ears ORPHA:163961
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Babinski sign, Adrenocorticotropin receptor defect, Orthostatic hypotension, Abnor... OMIM:231550
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:216400
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal sensory impairment, Axonal deg... OMIM:601596
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atrophy, Frequent fall... OMIM:607317
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Undetectable visual evoked potentials, Truncal ataxia OMIM:619051
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Monomelic Amyotrophy
Fasciculations, Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn... ORPHA:65684
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Conductive hearing impairment, Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Riboflavin Transporter Deficiency
Diabetes insipidus, Abnormal cranial nerve morphology, Progressive hearing impairment, Tremor, Fa... ORPHA:97229
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Hearing impairment, Dystonia, Myoclonu... ORPHA:139485
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials, Hemipar... OMIM:125310
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Young Syndrome
Azoospermia OMIM:279000
Fragile X Tremor/Ataxia Syndrome
Bradykinesia, Premature ovarian insufficiency, Resting tremor, Poor fine motor coordination, Dysd... OMIM:300623
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Tremor, Vocal cord paralysis, Abnormal motor nerve conduction velocity OMIM:158580
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Global brain atrophy, Truncal ataxia, Dysdiadochokinesis, Tremor, Sensorineural hearing impairmen... OMIM:610185
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Aggressive behavior OMIM:300983
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Gai... OMIM:615957
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Impaired proprioception... ORPHA:251282
Glycine Encephalopathy 1
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Fasciculations, Tremor, Decreased fertility, Testicular atrophy OMIM:313200
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp... OMIM:618433
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
White-Sutton Syndrome
Cerebral atrophy, Sensorineural hearing impairment, Optic nerve hypoplasia, Abnormality of the ou... OMIM:616364
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:133540
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Impaired proprioception, Decreased nerve conduction velocity, Fasciculations, Sensor... ORPHA:101085
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In... OMIM:610532
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Sensorineural hearing impairment, Tremor, Limb myoclonus, Frequent falls, High-... ORPHA:2590
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic... OMIM:615157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Premature ovarian insufficiency, Secondary amenorrhea, Resting tremor, Sensorineura... OMIM:157640
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Par... OMIM:618718
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensation, Abnormal sens... ORPHA:276435
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle... OMIM:616053
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Hypertonia, Delayed brainstem auditory evoked response conduction time, Lower limb... OMIM:616881
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Distal sensory impairment, Axonal degeneration, Incoordination, Sensorineural hear... OMIM:302800
4H Leukodystrophy
Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Abnormalit... ORPHA:289494
Parkinsonism With Polyneuropathy
Bradykinesia, Decreased compound muscle action potential amplitude, Resting tremor, Parkinsonism ... OMIM:619279
Wolfram Syndrome 1
Optic atrophy, Cerebral atrophy, Diabetes insipidus, Sensorineural hearing impairment, Tremor, He... OMIM:222300
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Hsd10 Disease
Optic atrophy, Frontotemporal cerebral atrophy, Tremor, Hearing impairment, Rigidity, Ataxia, Myo... ORPHA:391417
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst... OMIM:610245
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous sys... OMIM:615362
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Absence of acoustic reflex, Sensorineural hearing impairment, Tremor, Hypergonadotrop... OMIM:619737
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
EEG with spike-wave complexes, EEG with polyspike wave complexes, Chorea, Truncal ataxia, Tremor,... OMIM:618587
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Resting tremor, Tremor... ORPHA:3077
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hypertonia, Sensorineural hearing impairment, Tremor, Cerebral cortical atrophy, Type I diabetes ... ORPHA:1192
48,Xxxy Syndrome
Chronic otitis media, Azoospermia, Hypoplasia of penis, Infertility, Tremor, Decreased testicular... ORPHA:96263
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... ORPHA:2232
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Low-set, posteriorly rota... ORPHA:1772
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... ORPHA:261519
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Male infertility OMIM:300991
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Babinski sign, Delayed puberty, Spasticity, Tremor, Cerebellar atrophy, Cerebral c... OMIM:607694
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Undetectable electroretinogram, Sensorineural hearing impairment, Brain atrophy... OMIM:619260
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Tremor, Distal senso... OMIM:118300
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Interictal epileptiform activity, Tremor, Myoclonus OMIM:615400
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
49,Xxxxy Syndrome
Chronic otitis media, Azoospermia, Hypoplasia of penis, Infertility, Tremor, Decreased testicular... ORPHA:96264
Spastic Ataxia 2, Autosomal Recessive
Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro... OMIM:611302
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Tremor, Ble... OMIM:607876
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Ring Chromosome 22 Syndrome
Gait ataxia, Macrotia, Impaired pain sensation, Azoospermia ORPHA:1446
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Hypospadias, Undetectable visual evoked potentials, Tongue fasciculations, Spastic... OMIM:252010
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Tremor, Delayed menarche, Cerebellar atrophy, Dystonia, Diffuse... ORPHA:330050
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media OMIM:618948
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Abnormal flash visual evoked potentials, Optic disc pallor OMIM:618195
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Distal... OMIM:609136
Multiple System Atrophy
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... ORPHA:102
Juvenile Huntington Disease
Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Gait ataxia, Dystonia, Ataxia ORPHA:248111
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Babinski sign, Hypertonia, Cerebral atrophy, Progressive cerebellar ataxia, Impair... ORPHA:137898
Autosomal Recessive Spastic Paraplegia Type 11
Abnormality of pattern visual evoked potentials, Orthostatic hypotension, Abnormality of extrapyr... ORPHA:2822
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Hyperactivity, Impulsivity, Gait ataxia, Dystonia, Dysphagia, Aggressive behavior ORPHA:500180
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, EEG abnormality, Dys... OMIM:617810
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Limb fasciculations, Distal sensory impairment, Tremor, Abno... ORPHA:90117
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebral atrophy, Hypertonia, Cerebral cortical neurodegeneration, Neuronal loss in central nervo... OMIM:203700
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Spasticity, Tremor, Dystonia, Abnormal electroretin... OMIM:304700
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia, EEG abnormality OMIM:617836
Crigler-Najjar Syndrome Type 1
Hearing impairment, Tremor ORPHA:79234
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid... ORPHA:98763
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
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Tremor, Dystonia, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, Ataxia OMIM:614307
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, A... ORPHA:98933
Kallmann Syndrome
Decreased fertility, Breast hypoplasia, Delayed puberty, Erectile dysfunction, Anterior hypopitui... ORPHA:478
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
EEG abnormality, Tremor, Ataxia, Gait ataxia OMIM:617831
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Azoospermia OMIM:618300
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Cerebellar vermis atrophy, Abnormal pinna morphology, Tremor, Gait ... OMIM:300354
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior OMIM:615516
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progressive gait ataxia, Dysmetria OMIM:607458
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, EEG with occipital epil... ORPHA:254881
Intellectual Developmental Disorder, X-Linked 12
Hyperkinetic movements, Sensorineural hearing impairment, Spasticity, Tremor, Microphallus, Crypt... OMIM:300957
Parkinson Disease 15, Autosomal Recessive Early-Onset
Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m... OMIM:260300
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Cerebral atrophy, Oromandibular dystonia, Scissor gait, Spasticity, ... ORPHA:521406
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Sensorineural hearing impairment, Im... OMIM:105210
Epilepsy, Progressive Myoclonic, 6
Tremor, EEG with spike-wave complexes, Ataxia, Myoclonus OMIM:614018
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Tremor, Rigidity, Ataxia, Decreased motor nerve cond... OMIM:603472
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Senile plaques, Global brain atrophy, Progressive cerebellar ataxia,... ORPHA:282166
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Abnormality of pain sensation, Tremor, Anteverted ears, Macrotia, Ataxia, Poor coord... ORPHA:544254
Cockayne Syndrome Type 1
Optic atrophy, Lower limb spasticity, Tremor, Absent brainstem auditory responses, Cryptorchidism... ORPHA:90321
Phenylketonuria
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Attention deficit hyperactivity disor... OMIM:261600
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Degeneration of the striatum, Dysdiadochokinesis, Tremor, Rigidity, Slurred speech OMIM:609161
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Orthostatic Hypotension 1
Increased blood urea nitrogen, Retrograde ejaculation, Hypomagnesemia, Elevated circulating dihyd... OMIM:223360
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Tremor, Bilateral sensorineural hearing impairment, Dystonia, At... OMIM:619422
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Brain atrophy, Tremor, Low-set ears, Gait ataxia, Ataxia,... OMIM:619092
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, EEG with spike-wave complexes (2.5-3.5 Hz), Myoclonus OMIM:616366
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Optic atrophy, Cerebral atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic ner... ORPHA:329284
Peroxisome Biogenesis Disorder 5B
Oculomotor apraxia, Sensorineural hearing impairment, Tremor, Cerebellar atrophy, Ataxia, Dysmetria OMIM:614867
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Cerebellar vermis atrophy, Spasticity, Tremor, Dysdiadochokinesis, Cerebellar atro... OMIM:614381
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:231111
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Cerebellar atrophy, Gait ataxia, Dystonia, Ataxia, Parkinsonism, D... OMIM:618093
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Cerebellar atrophy, Exaggerated startle r... OMIM:620327
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Transient hyperphenylalaninemia, Hyperactivity, Tremor, Hyperphenylalaninemia,... OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Abnormal autonomic nervous system ... OMIM:618049
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Cerebral atrophy, Hypertonia, Limb hypertonia, Undetectable visual evoked potentia... OMIM:259720
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment OMIM:607734
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor ORPHA:66633
Familial Glucocorticoid Deficiency
Azoospermia, Tetraplegia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchid... ORPHA:361
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Rigidity, Dystonia, Parkinsonism, Li... OMIM:213600
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Ab... OMIM:618060
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Ataxia, EEG abnormality OMIM:617106
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Abnormal pinna morphology, Abnormality of the hypothalamus-pitu... ORPHA:251066
Oculopharyngodistal Myopathy 3
Sensorineural hearing impairment, Tremor, Ataxia, Conductive hearing impairment OMIM:619473
Atypical Rett Syndrome
Pill-rolling tremor, Apraxia, Impaired pain sensation, Spasticity, Tremor, Abnormal autonomic ner... ORPHA:3095
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Head titubation, Diffuse cerebral atrophy, Vestibular arefle... ORPHA:3240
Autosomal Recessive Malignant Osteopetrosis
Optic nerve compression, Tremor, Hearing impairment, Abnormality of visual evoked potentials, Oti... ORPHA:667
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast... OMIM:616719
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
Stiff Person Spectrum Disorder
Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
H Syndrome
Delayed puberty, Azoospermia, Decreased testicular size, Hearing impairment, Hypogonadism, Amenor... ORPHA:168569
Pelizaeus-Merzbacher Disease
Optic atrophy, Global brain atrophy, Writer's cramp, Cerebellar vermis atrophy, Tremor, Intention... OMIM:312080
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Polyphagia, Inappropriate laughter, Ataxia ORPHA:411515
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Hyperkinetic movements, Tremor, Decreased ... ORPHA:457240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Dystonia 28, Childhood-Onset
Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial dystonia, Dyst... OMIM:617284
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spastici... ORPHA:397946
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Cerebellar vermis atrophy, Gait ataxia, Ataxia, ... OMIM:213200
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Distal sensory impairment, Truncal ataxia, Dysdiadochokinesis, Tremor, Hearing impai... OMIM:617675
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Tremor OMIM:274150
Corticobasal Syndrome
Bradykinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigidity, Tremo... ORPHA:454887
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Cerebral atrophy, Limb hypertonia, Hypsarrhythmia, EEG with multifocal slow activi... ORPHA:442835
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Menometrorrhagia ORPHA:79430
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Male infertility, Recurrent otitis media OMIM:612444
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, EEG with spike-wave complexes, Incoordination, Poor fine motor coordination, Tremor... ORPHA:36387
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, EEG abnor... ORPHA:529665
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Cryptorchidism, Abnormal auditory evoked potentials OMIM:193700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy ORPHA:529808
Parkinsonism-Dystonia 1, Infantile-Onset
Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor... OMIM:613135
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials, Cerebral palsy ORPHA:529799
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Ataxia-Telangiectasia
Delayed puberty, Spasticity, Tremor, Abnormal testis morphology, Ataxia, Type II diabetes mellitu... ORPHA:100
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypergonadotropic h... OMIM:154230
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Pontocerebellar atrophy, Facial palsy ORPHA:258
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, At... OMIM:612438
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia, Polyphagia ORPHA:251004
Neurodegeneration With Brain Iron Accumulation 3
Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Rigidity,... OMIM:606159
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, ... OMIM:208920
Behr Syndrome
Optic atrophy, Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Progressive spas... OMIM:210000
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Myotonic Dystrophy 1
Cerebral atrophy, Cholelithiasis, Facial diplegia, Hypogonadism, Testicular atrophy OMIM:160900
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Global brain atrophy, Chorea, Tremor, Cerebellar atrophy, Act... OMIM:619738
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Mitochondrial swelling, Decreased nerve conduction velocity, Bilateral sensorineural hearing impa... ORPHA:397744
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Sensorineural hearing impairment, Tremor, Cerebellar atrophy, Hypergonadotropic... OMIM:607426
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Sialidosis Type 1
Decreased nerve conduction velocity, Sensorineural hearing impairment, Tremor, Ataxia, Myoclonus,... ORPHA:812
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Retrograde ejaculation ORPHA:230
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Tay-Sachs Disease
Optic atrophy, Global brain atrophy, Ankle clonus, Fasciculations, Incoordination, Decerebrate ri... ORPHA:845
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media OMIM:619607
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response ORPHA:309246
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor... ORPHA:1170
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Dystonia, Ataxia, Abnormal circulating creatine concentration, Self-mut... ORPHA:52503
Igg4-Related Retroperitoneal Fibrosis
Anorexia, Retrograde ejaculation, Elevated circulating C-reactive protein concentration, Impotenc... ORPHA:49041
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Optic disc pallor, Hearing impairment,... ORPHA:502423
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Cerebellar atrophy, ... OMIM:616795
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Hypsarrhythmia, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosi... OMIM:612164
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc... ORPHA:247585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Cystathioninuria
Abnormal pinna morphology, Tremor ORPHA:212
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Recurrent otitis media, Immotile sperm, Absent inner ... OMIM:614874
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypocalcemic seizures, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:2239
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Azoospermia, Sensorineural hearing impairm... OMIM:602782
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Pontocerebellar atrophy, Oculomotor apraxia, Chorea, Tremor... OMIM:606002
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Bloom Syndrome
Azoospermia, Type II diabetes mellitus, Protruding ear, Cryptorchidism, Decreased fertility in fe... OMIM:210900
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Cerebral atrophy, Resting tremor, Tremor, Cogwh... OMIM:600116
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Absent antihelix, Hypospadias, Tremor, Bilateral cryptorchidism, Gait ataxia, Decreased testicula... OMIM:300998
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic nervous system phy... OMIM:300894
X-Linked Adrenoleukodystrophy
Hyperactivity, Impotence, Gait disturbance, Disinhibition, Attention deficit hyperactivity disord... ORPHA:43
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Cerebral atrophy, Truncal ataxia, Spasticity, Tremor, Ga... OMIM:618877
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin... ORPHA:98794
Non-Functioning Paraganglioma
Tremor, Vocal cord paralysis, Cranial nerve compression, Paraganglioma of head and neck, Conducti... ORPHA:94080
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Distal sensory impairment, Torticollis, Spasticity, Park... OMIM:606693
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Oculogyric crisis, Tongue thrusting, Athetosis, Blepharospasm, Limb dystonia, Exagge... OMIM:608643
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Fanconi Anemia
Aganglionic megacolon, Hearing abnormality, Hypospadias, Abnormal preputium morphology, Azoosperm... ORPHA:84
Hypermanganesemia With Dystonia 2
Bradykinesia, Babinski sign, Cerebral atrophy, Oromandibular dystonia, Generalized dystonia, Scis... OMIM:617013
Trisomy 10P
Abnormality of the ear, Rectovaginal fistula, Low voltage EEG, EEG with focal spikes, Abnormal au... ORPHA:171929
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Sensorineural hearing impairment, Spasticity, Tremor, Optic disc pallor, Spastic p... OMIM:618527
Congenital Disorder Of Glycosylation, Type Ij
Hypsarrhythmia, Hypertonia, Cryptorchidism, Tremor OMIM:608093
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Impotence, Abnormal autonomic nervo... OMIM:146500
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Sensorineural hea... ORPHA:447753
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor functio... OMIM:614298
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Hypoplasia of penis, Tremor, Decreased testicular size, Hypogonadism... ORPHA:85293
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Mend Syndrome
Low-set ears, Cryptorchidism, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Decreased distal sensory nerve action potential, Babinski sign, Hypertonia, Impaired tactile sens... ORPHA:466768
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Otitis media, Di... ORPHA:125
Dystonia 1, Torsion, Autosomal Dominant
Babinski sign, Hypertonia, Oromandibular dystonia, Writer's cramp, Torticollis, Torsion dystonia,... OMIM:128100
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response OMIM:620114
Lesch-Nyhan Syndrome
Abnormality of extrapyramidal motor function, Spasticity, Dystonia, Opisthotonus, Choreoathetosis... OMIM:300322
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Delayed puberty, Hypertonia, Oculomotor apraxia, Cholelithiasis, Azoospermia, Sensor... ORPHA:2072
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Asymmetry of the ears, Small earlobe, Low-set ears, Abnormality of the Leydig cells,... ORPHA:3063
Primary Dystonia, Dyt2 Type
Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involuntary movements, Gener... ORPHA:99657
Migraine, Familial Hemiplegic, 2
Apraxia, Vertigo, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemipleg... OMIM:602481
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Distal sensory impairment, Sensor... ORPHA:99956
Parkinson Disease 14, Autosomal Recessive
Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Frontotemporal cerebral atrophy, Global brai... OMIM:612953
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... ORPHA:465508
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:610042
Young-Onset Parkinson Disease
Bradykinesia, Spasticity, Tremor, Abnormal autonomic nervous system physiology, Male sexual dysfu... ORPHA:2828
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Corpus callo... OMIM:616586
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent otitis media OMIM:614935
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Primary Ciliary Dyskinesia
Chronic otitis media, Male infertility, Recurrent otitis media, Hearing impairment, Conductive he... ORPHA:244
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar vermis at... ORPHA:98773
Japanese Encephalitis
Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Interictal epileptiform activi... ORPHA:79139
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Tremor, Cerebellar atrophy, Titubation, Ataxia, Dysmetria OMIM:619405
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysdiadochokinesis, Impulsivity, Gait ataxia, Intention tremor, Dystonia, Dysphagi... OMIM:610217
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Early Infantile Epileptic Encephalopathy
EEG with spike-wave complexes, Hypsarrhythmia, Spasticity, Uni- and bilateral multifocal epilepti... ORPHA:1934
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Tremor, Ataxia, Type II diabetes mellitus, Hypogonadism ORPHA:79095
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Aceruloplasminemia
Limb ataxia, Abnormal pancreas morphology, Torticollis, Chorea, Tremor, Blepharospasm, Craniofaci... ORPHA:48818
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone ... ORPHA:534
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Vertigo, Impotence, Female hypogonadism, Hypogonadism, Cen... ORPHA:91347
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Gait ... OMIM:137440
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Decreased testicular size, Ataxia, Hypogonadism, Decreased serum testosterone concentration OMIM:201100
Atypical Progressive Supranuclear Palsy Syndrome
Bradykinesia, Oculomotor apraxia, Tremor by anatomical site, Extrapyramidal muscular rigidity, Tr... ORPHA:99750
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Ataxia-Telangiectasia
Delayed puberty, Progressive cerebellar ataxia, Dysdiadochokinesis, Abnormal spermatogenesis, Tre... OMIM:208900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Tremor, Low-set ears, Intention tremor, Ataxia, Cryptorchidism OMIM:614052
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial nerve compression, Paraganglioma ... ORPHA:276621
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebral atrophy, Spasticity, Tremor, Overfolded helix, Low-set ears, Cerebellar atrophy, Posteri... OMIM:614080
Fanconi Anemia, Complementation Group A
Hearing impairment, Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Hyperalaninemia, Exaggerated startle response, Gait ataxia, Ataxia, Hyperprol... OMIM:620451
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Broad-based gait ORPHA:438216
Alexander Disease
Chorea, Tetraplegia, Tremor, Spasticity, Abnormal autonomic nervous system physiology, Facial pal... ORPHA:58
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Hypernatremia, Dystonia, Hyp... OMIM:620423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Undetectable electroretinogram, Spasticity, Decreased light- and dark-adapted elec... OMIM:253280
Argininemia
Spastic gait, Anorexia, Hyperactivity, Hyperargininemia, Hyperammonemia OMIM:207800
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Tick-Borne Encephalitis
Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morpho... ORPHA:297
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Conductive hearing impairment, Male infertility, Absent outer dynein arms OMIM:244400
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebral atrophy, Hyperkinetic movements, Chorea, Truncal ataxia, Tremor, Athetosis, Cerebellar a... OMIM:615356
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Impotence, Unconjugated hyperbilirubinemia, Increased blood urea nitro... ORPHA:447
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Neuronal loss in central nervous system, Tremor, Abnormal autonomic... OMIM:168600
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Inability to walk, Exaggerated startle response OMIM:617864
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Sandhoff Disease
Ataxia, Impotence, Exaggerated startle response OMIM:268800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Cranial nerve compression, Paraganglioma ... ORPHA:29072
Neurodegeneration With Brain Iron Accumulation 1
Obsessive-compulsive trait, Akinesia, Hyperactivity, Tremor, Blepharospasm, Gait disturbance, Pho... OMIM:234200
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Niemann-Pick Disease Type C
Cerebral atrophy, Frontal cortical atrophy, Lower limb spasticity, Axial dystonia, Chorea, Cerebe... ORPHA:646
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Adult-Onset Dystonia-Parkinsonism
Bradykinesia, Frontotemporal cerebral atrophy, Spasticity, Parkinsonism with favorable response t... ORPHA:199351
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... ORPHA:273
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Hypoasparaginemia, Exaggerated startle response OMIM:615574
Cystic Fibrosis
Hearing impairment, Absent vas deferens, Male infertility ORPHA:586
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response OMIM:617527
Noonan Syndrome 1
Male infertility, Hypospadias, Sensorineural hearing impairment, Low-set ears, Hearing impairment... OMIM:163950
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Exaggerated startle response, Stereotypical hand wringing, D... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Dysphagia, Exaggerated startle response OMIM:618367
Leukodystrophy, Hypomyelinating, 22
Inability to walk OMIM:619328
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Chordee, Dysphagia, Motor stereotypy, Attention deficit hyperactivi... OMIM:619522

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 Cldn11

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 Cldn11.

No publications found that use IMPC mice or data for Cldn11.

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
Cldn11em2(IMPC)H Inter-exon deletion Mice
Cldn11tm41511(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cldn11em1(IMPC)H Inter-exon deletion Mice

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