Gene: Cldn11 MGI:106925

Gene Summary

Name:

claudin 11

Synonyms:

Otm, Osp, oligodendrocyte-specific protein

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
hyperactivity	Cldn11^em1(IMPC)H	HOM	Early adult	1.87×10^-12
abnormal gait	Cldn11^em1(IMPC)H	HOM	Early adult	4.22×10^-13
increased startle reflex	Cldn11^em1(IMPC)H	HOM	Early adult	1.48×10^-07
increased blood urea nitrogen level	Cldn11^em1(IMPC)H	HOM	Early adult	3.32×10^-05

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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.

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.

Human diseases associated with Cldn11 (1 diseases)
Human diseases predicted to be associated with Cldn11 (736 diseases)

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	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-Küster-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

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