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Gene: Slc26a4 MGI:1346029

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 26, member 4
Synonyms:
Pds,  pendrin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • 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.

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 Slc26a4 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 Slc26a4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... OMIM:600791
Pendred Syndrome
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... ORPHA:705
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713

The table below shows human diseases predicted to be associated to Slc26a4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... OMIM:600791
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Feeding difficulties OMIM:617787
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Pendred Syndrome
Hyperparathyroidism, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hyp... ORPHA:705
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Impaired pain sensation, Sensorineural hearing impairment, Impaired distal vibration sensation, H... OMIM:300905
Deafness, Autosomal Recessive 2
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment OMIM:600060
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 89
Sensorineural hearing impairment, Vestibular hypofunction OMIM:613916
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 18B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614945
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Unsteady gait, Cochlear nerve hypoplasia, Abnormal speech ... OMIM:300614
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Fetal Iodine Deficiency Disorder
Congenital hypothyroidism, Congenital goiter, Hearing impairment OMIM:228355
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d... OMIM:128101
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... ORPHA:52368
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Ravine Syndrome
Decreased body weight, Ataxia, Abnormal auditory evoked potentials, Anorexia, Atrophy/Degeneratio... ORPHA:99852
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Dystonia 30
Torticollis, Diffuse cerebral atrophy, Writer's cramp, Impulsivity, Aggressive behavior, Leg dyst... OMIM:619291
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Usher Syndrome Type 1
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... ORPHA:231169
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231183
Autosomal Recessive Spastic Paraplegia Type 24
Sensorineural hearing impairment, Tip-toe gait, Scissor gait ORPHA:101004
Deafness-Infertility Syndrome
Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato... OMIM:611102
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology ORPHA:3465
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Impaired vibration sensation at ankles, Dysdiadochokinesis, Abn... ORPHA:101007
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Hypotonia, Limb dystonia, Hearing im... OMIM:620270
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 37
Sensorineural hearing impairment OMIM:618533
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment OMIM:618778
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment OMIM:618410
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, EEG with parietal focal spike waves, Writer's cramp, Prolonged somatosensory... ORPHA:163727
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Sensorineural hearing impairment, Dystonia, Profound sensorineural hearing impairment, He... OMIM:619196
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Vertigo, Ataxia, Torticollis ORPHA:71518
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Fragile X Syndrome
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Periventricular heterotopia... OMIM:300624
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Deafness-Infertility Syndrome
Sensorineural hearing impairment ORPHA:94064
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Striatonigral Degeneration, Infantile
Optic atrophy, Dysphagia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive OMIM:271930
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Torticollis, Dystonia, Progressive cerebellar ataxia, Dysphagia, Craniofacial... OMIM:611694
Spinocerebellar Ataxia 31
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Limb ataxia, Gait ataxia OMIM:117210
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Dystonia, Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia ORPHA:1171
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
7Q31 Microdeletion Syndrome
Hyperactivity, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-... ORPHA:251061
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Abnormality of the auditory canal, Impaired proprioception, Upper l... ORPHA:319199
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia, Dystonia, Spasticity, Hearing impair... OMIM:617899
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Bilate... ORPHA:314603
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Spinocerebellar atrophy, Mil... ORPHA:95433
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age, Hypotonia, Bruxism, Spasticity ORPHA:356996
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Progressive hearing impairmen... OMIM:614296
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Cogwheel rigidity, Hypertonia, Attention deficit hyperactivity disorder, Dystonia, Decreased body... OMIM:618284
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms OMIM:606053
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Goiter, Elevated circulating thyr... OMIM:274300
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Multiple Mitochondrial Dysfunctions Syndrome 6
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Hypotoni... OMIM:617954
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia... OMIM:609425
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Sensorineural hearing impairment, Impaired vibration sensati... ORPHA:352675
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior OMIM:617270
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Hearing imp... OMIM:613724
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Cerebral cortical atrophy, Craniofacial dystonia ORPHA:370103
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Bruxism, EEG abnormality, Self-injurious behavior, Brai... OMIM:618718
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Dystonia 32
Limb dystonia, Torticollis, Brain atrophy, Dysphagia, Laryngeal dystonia OMIM:619637
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... OMIM:616291
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Low-set ears OMIM:601163
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Dysdiadochokinesis, Gait d... ORPHA:363710
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Blepharonasofacial Malformation Syndrome
Facial palsy, Torsion dystonia OMIM:110050
Dystonia 33
Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity OMIM:619687
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Hypotonia, EEG abnormality, Truncal ataxia, Abnormal repetitive mannerisms,... OMIM:608636
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Dystonia, Ataxia, Aggressive behavior, Chorea, EEG abnormality, Inappropriate la... OMIM:619150
Episodic Ataxia Type 4
Abnormal head movements, Vertigo, Ataxia ORPHA:79136
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys... OMIM:602629
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Tremor, Hypotonia, Spastic tetrapleg... ORPHA:599373
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, Dysphagia... OMIM:222300
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter ORPHA:3327
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Hypsarrhythmia, Generalized hypotonia, Abnormal repetitive manne... OMIM:617830
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... OMIM:125250
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Dystonia, Tremor, Impaired vibration sensation in the lower limbs, Impaired propr... ORPHA:251282
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Hypotonia, Hand tremor, Dysphagia, Gait ataxia, Atrophy/Degeneration affectin... OMIM:617862
Sandhoff Disease, Adult Form
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Dystonia, Spasticity ORPHA:309169
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Recurrent hand flapping, Posteriorly rotated ears, Low-set ears OMIM:618147
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Axial hypotonia, Chorea, EEG abnormality, Self-injurious behavior, Dystonia, Stereotypical hand w... OMIM:618760
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Ciliary Dyskinesia, Primary, 37
Goiter, Hypothyroidism, Hearing impairment OMIM:617577
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Ataxia, Sensorineural hearing impairment, Hypotonia, Obesity, Cerebral atr... OMIM:616756
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, EEG abnormality, Generalized hypotonia, Ab... OMIM:239500
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Dystonia, Inability to walk, Cerebral atrophy, Choreoathetosis, Bruxism, Conductive hearing impai... OMIM:618497
Leukodystrophy, Hypomyelinating, 18
Cerebellar atrophy, Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity... OMIM:618404
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Axial hypotonia, Generalized dyston... OMIM:619389
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Hypotonia, EEG abnormality, Self-injurious behavior, Dystonia, Spasticity, Abnormal repetitive ma... OMIM:617820
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Adult onse... ORPHA:1368
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Impulsivity, Tremor, Rigidity, Chorea, Optic atrophy, Dysphagia, Focal dystonia... ORPHA:216873
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Se... ORPHA:95716
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Dystonia, ... OMIM:300475
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Myotonic Dystrophy 1
Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... OMIM:160900
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Axial hypotonia, Tremor, Agitation, Compulsive behaviors, Dystonia, Failure to thrive OMIM:619651
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Ataxia, Sensorineural hearing impairment, Distal sensory impairment, Steppage gait... OMIM:617882
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Brain atrophy, Low-se... OMIM:619092
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Ataxia, Episodic generalized hypotonia, Sensorineural hearing impairment, Optic atrophy, Hypotoni... OMIM:601338
Leukoencephalopathy, Cystic, Without Megalencephaly
Ataxia, Sensorineural hearing impairment, Athetosis, Dystonia, Spasticity OMIM:612951
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Intellectual Developmental Disorder, Autosomal Recessive 73
Posteriorly rotated ears, Impulsivity, Gait ataxia, Low-set ears, Recurrent hand flapping OMIM:619717
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Spastic paraplegia, Dystonia OMIM:619681
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... ORPHA:382
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Familial Paroxysmal Ataxia
Torticollis, Ataxia, Vertigo, Dystonia, Tinnitus, Cerebellar vermis atrophy ORPHA:97
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Large e... OMIM:305400
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... ORPHA:101085
Apert Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... ORPHA:87
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Optic atrophy, Spastic tetraplegia, Generalized hypotonia, Dystonia, Failure ... OMIM:618237
Developmental And Epileptic Encephalopathy 107
Feeding difficulties in infancy, Abnormal repetitive mannerisms OMIM:620033
Developmental And Epileptic Encephalopathy 7
EEG with burst suppression, Hypotonia, Spastic tetraparesis, Dystonia OMIM:613720
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... OMIM:617695
N-Acetylaspartate Deficiency
Generalized hypotonia, Truncal ataxia, Decreased body weight, Abnormal repetitive mannerisms, Sel... OMIM:614063
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment, Heterochromia iridis OMIM:616460
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Hypotonia, Progressive cerebellar ataxia, Dystonia, Hearing impairment ORPHA:139485
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Idiopathic Hypercalciuria
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... ORPHA:2197
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Dysphagia, Dystonia OMIM:108600
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Severe muscular hypotonia, Oculogyric crisis, Chorea, Hypotonia, Cerebral atr... OMIM:614254
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:619947
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Sensory ataxia, Dystonia OMIM:619661
Spinocerebellar Ataxia, Autosomal Recessive 31
Axial hypotonia, Ataxia, Tremor, Optic atrophy, Bruxism, Cerebral atrophy, Dysphagia, Choreoathet... OMIM:619422
Christianson Syndrome
Cerebellar atrophy, Dystonia, Dysphagia, Gait ataxia, Neuronal loss in central nervous system, In... ORPHA:85278
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Sensorineural hearing impairment ORPHA:2597
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy, Hypotonia, Abnor... OMIM:619470
Dystonia 23
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Head tremor, Limb dystonia, Cere... OMIM:614860
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Dyst... OMIM:617145
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Aggressive behavior, Chorea, Torsion dystonia, Choreoathetosis, Pa... ORPHA:98811
Leukoencephalopathy, Brain Calcifications, And Cysts
Tremor, Spasticity, Ataxia, Dystonia OMIM:614561
Combined Oxidative Phosphorylation Deficiency 13
Axial hypotonia, Severe muscular hypotonia, Decreased nerve conduction velocity, Sensorineural he... OMIM:614932
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Charcot-Marie-Tooth Disease, Type 4K
Sensorineural hearing impairment, Ataxia, Hearing impairment, Dystonia OMIM:616684
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Limb hypertonia, EEG abnormalit... OMIM:618247
Jeavons Syndrome
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... ORPHA:139431
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Hypotonia, Cerebral atrophy, Dysphagia, Chor... OMIM:618088
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Sensorineural hear... OMIM:157640
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick... OMIM:614104
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Sensorineural hearing impairment, Distal sensory impairment, Steppage gait, Dysphagia, Progressiv... OMIM:607736
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypsarrhythmia, Macrotia, Abnormal repetitive mannerisms, Hearing impairment OMIM:619877
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Dy... OMIM:617951
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Mepan Syndrome
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Hypoto... ORPHA:508093
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Hypotonia, Dysphagia, Hypertonia, Bilateral sensorineural hearing impairment, Low-... OMIM:264470
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... OMIM:617638
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Reduced sperm motility, Hearing impairment OMIM:619436
Episodic Ataxia, Type 9
Paroxysmal vertigo, Episodic ataxia, Vertigo, Dystonia OMIM:618924
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Cerebellar atrophy, Ataxia, Hypotonia, Dystonia, Spasticity, Failure to thrive, Global brain atrophy OMIM:618276
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... ORPHA:99950
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia OMIM:118800
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Dysphagia, Craniofacial dystonia OMIM:619565
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms, Feeding difficulties OMIM:616341
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Prolonged somatosensory evoked potentials, Paroxysmal dystonia, Writer's cramp, Hand tremor OMIM:608105
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder OMIM:618709
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Hypsarrhythmia, Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:251280
Spinocerebellar Ataxia 14
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Attent... OMIM:605361
Distal Deletion 10Q
Ataxia, Aggressive behavior, Congenital sensorineural hearing impairment, Unsteady gait, Cochlear... ORPHA:96148
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Dystonia OMIM:618425
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Huntington Disease-Like 2
Caudate atrophy, Chorea, Weight loss, Dystonia, Cerebral cortical atrophy ORPHA:98934
Leukodystrophy, Hypomyelinating, 21
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Optic atrophy, Athetosis, Dystonia, Failure ... OMIM:619310
Huntington Disease-Like 1
Cerebellar atrophy, Restlessness, Abnormal head movements, Chorea, Dysmetria, Gait ataxia, EEG ab... ORPHA:157941
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Tremor, Rigidity, Chorea, Inappropriate behavior, Dystonia ORPHA:401901
Usher Syndrome, Type Iiia
Abnormal vestibular function, Sensorineural hearing impairment OMIM:276902
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Compulsive behaviors, Dystonia ORPHA:36899
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Prolonged brainstem auditor... OMIM:616881
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Ataxia, Vertigo, Hypotonia, Truncal ataxia, Gait ataxia, Dystonia, Episodi... OMIM:614458
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Impaired proprioception, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor,... ORPHA:99027
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Cerebral a... OMIM:617916
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Spastic Ataxia 3, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Spasticity, Cerebra... OMIM:611390
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Infertility, Immotile sperm OMIM:618449
3-Methylglutaconic Aciduria, Type I
Ataxia, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Fa... OMIM:250950
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Macrotia, Abnormal repetitive mannerisms DECIPHER:45
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Failure to thrive, Spastic tetraparesis, Dystonia ORPHA:67046
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Phonic tics, Hippocampal atrophy, Co... OMIM:301107
Gorham-Stout Disease
Torticollis, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Tremor, Sensorineural hearing impa... OMIM:302800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Chorea, Cerebral atroph... ORPHA:500180
Hematuria, Benign Familial, 2
Sensorineural hearing impairment OMIM:620320
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Bruxism, Protruding... OMIM:618342
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Episodic Ataxia, Type 2
Abnormal vestibular function, Vertigo, Progressive cerebellar ataxia, Paresthesia, Dystonia, Epis... OMIM:108500
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Cerebral atrophy, Dystonia, Spasticity, Neuronal loss in central n... OMIM:615924
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... ORPHA:206443
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Hemidystonia, Spastic tetraparesis, Optic atrophy, Spastic gait OMIM:619052
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Sensorineural hearing impairment, Chorea, Optic... ORPHA:79097
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Restlessness, Ataxia, Spastic tetraplegia, Dystonia, Infantile muscular hypotonia ORPHA:263410
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Obsessive-compulsive trait, ... ORPHA:544254
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter ORPHA:319487
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dystonia, Ataxia, Cachexia, Tremor, Chorea, Dysmetria, Gait ataxia, Dysphagia OMIM:618093
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progressiv... ORPHA:248111
Developmental And Epileptic Encephalopathy 69
Axial hypotonia, Corpus callosum atrophy, Spastic tetraplegia, Hypsarrhythmia, EEG abnormality, D... OMIM:618285
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious behavior, Compulsive be... OMIM:618917
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Bruxism, Cerebral atrophy, Dysphagi... OMIM:617435
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent ear helix, Inability to walk, Multifocal epileptiform discharges, Hypsarrhythmia, Large... ORPHA:411986
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the outer ear, Self hugging, Head-banging, EE... OMIM:182290
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Hypsarrhythmia, Athetosis, EEG abnormality, Dystonia, Recurrent hand flapping OMIM:618141
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Optic atrophy, Dysphagia, Cogwheel rigidity, Ch... ORPHA:225154
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Postural tremor, Writer's cramp, Impaired distal vibration sensation... OMIM:128230
Siddiqi Syndrome
Sensorineural hearing impairment, Limb dystonia OMIM:618635
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... ORPHA:1215
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Resting tremor, Ataxia, Aggressive behavior, Tremor, Cerebral atrophy, Dyspha... OMIM:615157
Crouzon Syndrome
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment ORPHA:207
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Atrophy/Degeneration affecting the brainstem, Hypotonia, Generalized hypotonia, Dystonia, Brain a... OMIM:616277
Parkinsonism-Dystonia 1, Infantile-Onset
Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Chorea, Cogwheel rigidity, Hypert... OMIM:613135
Ogden Syndrome
Abnormal head movements, Torticollis, Cerebral atrophy, Shuffling gait, Low-set ears, Macrotia ORPHA:276432
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Axial hypotonia, Facial hypotonia, Ataxia, Tremor, Spastic parapleg... OMIM:300055
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnormal repetiti... OMIM:618504
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, ... OMIM:617807
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Mitochondrial Complex I Deficiency, Nuclear Type 16
Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dyst... OMIM:618238
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Gait ataxia, Dystonia, Spasticity OMIM:607317
Sulfite Oxidase Deficiency, Isolated
Axial hypotonia, Generalized dystonia, Ataxia, Multifocal epileptiform discharges, Cerebral atrop... OMIM:272300
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Chorea, Multifocal epileptiform... OMIM:617493
Baker-Gordon Syndrome
Ataxia, Choreoathetosis, EEG abnormality, Self-injurious behavior, Dystonia, Neonatal hypotonia, ... OMIM:618218
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Rigidity, Chorea, Cerebral atrophy, Dysphagia, Neurodegener... OMIM:617672
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Self-injurious behavior, Bruxism, Macro... OMIM:618004
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
Spinocerebellar Ataxia Type 28
Limb dystonia, Kinetic tremor, Rigidity, Limb ataxia, Gait ataxia, Head tremor, Dystonia, Spasticity ORPHA:101109
Neurodevelopmental Disorder With Dystonia And Seizures
Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, EEG with photoparoxysmal response, At... OMIM:619922
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Neonatal hypotonia,... OMIM:619690
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Abnor... ORPHA:329284
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Dysphagia, Gait ataxia, Generalized hypotonia, L... ORPHA:71517
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Dysphagia, Bilateral conductive hearing ... OMIM:617802
Developmental And Epileptic Encephalopathy 17
EEG with burst suppression, Chorea, Cerebral atrophy, Hypsarrhythmia, Athetosis, Dystonia OMIM:615473
Spinocerebellar Ataxia 12
Axial dystonia, Cerebellar atrophy, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... OMIM:604326
Raynaud-Claes Syndrome
Lower limb spasticity, Aggressive behavior, Hypotonia, Cerebral atrophy, Progressive cerebellar a... OMIM:300114
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Familial Isolated Dilated Cardiomyopathy
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration ORPHA:154
Striatonigral Degeneration, Childhood-Onset
Dystonia, Hypotonia, Hypertonia, Dysphagia, Craniofacial dystonia OMIM:617054
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Spastic gait, Dystonia ORPHA:320411
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Neuropathy, Hereditary Sensory, Type Ie
Ataxia, Impulsivity, Sensorineural hearing impairment, Cerebral atrophy, Hearing impairment OMIM:614116
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Hypotonia, Cerebral atrophy, EEG abnormality, Self-injurious behavior, Generalized hypotonia, Dys... OMIM:617268
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Head titubation, Spasti... OMIM:312080
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Aggressive behavior, Rigidity, Chorea, Dysp... OMIM:607136
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Parkinsonism-Dystonia 2, Infantile-Onset
Axial hypotonia, Ataxia, Oculogyric crisis, Tremor, Hypotonia, Dysdiadochokinesis, Abnormal auton... OMIM:618049
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Dystonia OMIM:620245
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... OMIM:610706
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Recurrent hand flapping, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ... OMIM:620021
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, EEG with irregular generalized spike and wave complexes, Optic atrophy,... ORPHA:352596
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Op... ORPHA:1435
Autosomal Recessive Spastic Paraplegia Type 46
Hearing impairment, Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decre... ORPHA:320391
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Cerebellar atrophy, Broad-based gait, Ataxia, Sensorineural hearing impairment, Dysmetria, Dysphagia OMIM:618098
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Increased neuronal autofluorescent lipopi... ORPHA:79263
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Dysphagia, Dystonia, Progressive sensorineu... OMIM:304700
Dystonia-Deafness Syndrome 1
Generalized dystonia, Small for gestational age, Oculogyric crisis, Sensorineural hearing impairm... OMIM:607371
Leukodystrophy, Hypomyelinating, 16
Optic disc pallor, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hypertonia, Dystonia, Fail... OMIM:617964
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Neurodegeneration, Compulsive behaviors, Dystonia, Oromandibular d... OMIM:615643
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... OMIM:612319
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait ... OMIM:617302
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Obesity, Protruding ear, Generalized hypoton... ORPHA:480907
Developmental And Epileptic Encephalopathy 27
Axial hypotonia, Chorea, Hypotonia, Hypsarrhythmia, Dystonia, Spasticity OMIM:616139
Cowden Syndrome 5
Hyperthyroidism, Goiter, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroi... OMIM:615108
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Chorea, Optic atrophy, Dystonia, Progressive extrapyramidal muscular rigi... ORPHA:401768
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Optic atrophy, Hypotonia, Cerebral atrophy, Dystonia OMIM:615338
Branchiootic Syndrome
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... ORPHA:52429
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ... OMIM:620292
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, S... OMIM:612716
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ... ORPHA:895
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia OMIM:619966
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Cryptorchidism, Compulsive behaviors, Low-set ears... ORPHA:352490
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis ORPHA:66633
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Restlessness, Axial hypotonia, Ataxia, Athetosis, Dystonia OMIM:615159
Coffin-Siris Syndrome 6
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... OMIM:617808
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms, Low-set ears OMIM:613443
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Pr... ORPHA:504476
Middle Ear Neuroendocrine Tumor
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... ORPHA:100084
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Inappropriate behavior, Disinhibition, Dystonia, Neu... OMIM:600795
Deafness-Vitiligo-Achalasia Syndrome
EEG abnormality, Sensorineural hearing impairment, Hypopigmented skin patches ORPHA:3239
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Small for gestational age, Ataxia, Hypotonia, Choreoathetosis, Limb dystonia, Cerebe... OMIM:619054
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Facial hypotonia, Overweight, Hypotonia, Spastic dysarthria, Dystonia, Spasti... ORPHA:280763
Atypical Rett Syndrome
Restrictive behavior, Impaired pain sensation, Tremor, Tongue thrusting, Hypotonia, Gait ataxia, ... ORPHA:3095
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... OMIM:619580
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, EEG abnormality, Hypocholesterolemia, Abnormal repetiti... OMIM:610883
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Paroxysmal choreoathetosis, Normal interictal EEG OMIM:602066
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Axial hypotonia, Chorea, Choreoathetosis, EEG abnormality, Hypertonia, Low-set ears, Dystonia, Sp... OMIM:618451
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural... OMIM:619260
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Chorea, Choreoathetosis, Dystonia ORPHA:98810
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypotonia, Dysphagia, Choreoathetosis, Hypertonia, Dystonia OMIM:261630
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Hypotonia, Cerebral atrophy, Spasticity, Failure to thrive, Abnormal repetitive mannerisms OMIM:617393
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Ataxia, Cachexia, Optic atrophy, Hypotonia, Choreoathetosis, Dyston... ORPHA:702
Spastic Paraplegia, Ataxia, And Mental Retardation
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... OMIM:607565
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryngeal dystoni... OMIM:617284
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Cowden Syndrome 6
Hyperthyroidism, Goiter, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroi... OMIM:615109
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Axial hypotonia, Continuous spike and waves during slow sleep, Chorea, Hypoto... OMIM:620149
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Spastic paraplegia, Dystonia OMIM:615030
Hemidystonia-Hemiatrophy Syndrome
Dystonia, Limb dystonia ORPHA:306741
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Chronic constipation, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Dentatorubral-Pallidoluysian Atrophy
Choreoathetosis, Chorea, Ataxia, Dystonia OMIM:125370
Pontocerebellar Hypoplasia, Type 9
Axial hypotonia, Facial hypotonia, Abnormal pinna morphology, Optic atrophy, Dysphagia, Hypertoni... OMIM:615809
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Sensorineural hearing impairment, Optic atrophy, Hypotonia, Generalized hypot... OMIM:614739
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Postural tremor, Atrophy/Degeneration affecting the brainstem, Chorea, Optic ... ORPHA:98755
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Dystonia, Cerebral cortical atrophy, Action tremor OMIM:606438
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Axial hypotonia, Dystonia, Facial palsy, Ataxia, Rigid... OMIM:608804
Waardenburg Syndrome, Type 4B
White eyelashes, Aganglionic megacolon, White eyebrow, Sensorineural hearing impairment, Blue iri... OMIM:613265
Developmental And Epileptic Encephalopathy 44
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Failure t... OMIM:617132
Developmental And Epileptic Encephalopathy 92
EEG abnormality, Spasticity, Ataxia, Dystonia OMIM:617829
Combined Oxidative Phosphorylation Defect Type 13
Axial hypotonia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoath... ORPHA:319514
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment OMIM:616351
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Tremor, Rigidity, Gait ataxia, Limb dystonia OMIM:605407
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Abnormal cranial nerve morphol... ORPHA:990
Microcephaly-Deafness-Intellectual Disability Syndrome
Sensorineural hearing impairment, Cupped ear, Low-set ears, Protruding ear ORPHA:2533
Warsaw Breakage Syndrome
Hypermelanotic macule, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Hearing impair... OMIM:613398
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment ORPHA:238750
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... ORPHA:529799
Leber Optic Atrophy And Dystonia
Dystonia, Optic atrophy, Athetosis, Dysphagia, Spasticity OMIM:500001
Immunodeficiency 70
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia OMIM:618969
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-in... OMIM:600430
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Tremor, Rigidity, Chorea, Dysphagia, Choreoathetosis, Blepharospasm, Neur... OMIM:606159
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... ORPHA:3306
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Optic atrophy, Hypotonia, Choreoat... OMIM:612438
Paroxysmal Kinesigenic Dyskinesia
Athetosis, Chorea, Writer's cramp, Dystonia ORPHA:98809
Blepharochalasis And Double Lip
Goiter OMIM:109900
Leigh Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Hypotonia, Generalized hypotonia, Dyston... OMIM:256000
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Deafness, Neural, With Atypical Atopic Dermatitis
Sensorineural hearing impairment OMIM:221700
Huntington Disease-Like 3
Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Dyst... ORPHA:157946
Developmental And Epileptic Encephalopathy 53
Hypotonia, Hypsarrhythmia, Spastic tetraplegia, Dystonia OMIM:617389
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Severe muscular hypotonia, Chorea, Hypotonia, Cerebral atrophy, Opisthotonus,... OMIM:616672
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Asymmetry of the ears, Cryptorchidism, Cupped ear, EEG abnormality, Abnormality of t... ORPHA:3063
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Friedreich Ataxia
Decreased motor nerve conduction velocity, Hearing impairment, Chorea, Optic atrophy, Impaired pr... ORPHA:95
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Foxg1 Syndrome
Dystonia, Hypotonia, Bruxism, Choreoathetosis, Decreased body weight, Spasticity, Abnormal repeti... ORPHA:561854
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617992
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Spinocerebellar Ataxia Type 2
Kinetic tremor, Postural tremor, Chorea, Cerebellar Purkinje layer atrophy, Gait ataxia, Progress... ORPHA:98756
Short Stature, Developmental Delay, And Congenital Heart Defects
Uveitis, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:617044
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Rigidity, Atrophy/Degeneration affecting... ORPHA:98759
Developmental And Epileptic Encephalopathy 6B
Axial hypotonia, Ataxia, Chorea, Hypotonia, Multifocal epileptiform discharges, EEG with spike-wa... OMIM:619317
Usher Syndrome Type 2
Sensorineural hearing impairment, Abnormality of the inner ear, Subcortical cerebral atrophy, Cer... ORPHA:231178
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Madras Motor Neuron Disease
Facial palsy, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Tinnitus ORPHA:137867
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, EEG abnormality, Generalized hypotonia, Dystonia OMIM:617836
Coffin-Siris Syndrome 7
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... OMIM:618027
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Axial hypotonia, Ataxia, Sensorineural hearing impairment, Obesity, Cerebr... ORPHA:464282
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Ataxia, Hypoesthesia, Chorea, Dysmetria, Brain atrophy, Dysphagia OMIM:618317
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Pelizaeus-Merzbacher Disease, Classic Form
Axial hypotonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Hypotonia, T... ORPHA:280219
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Hypotonia, Truncal ataxia, Prominent antihelix, Generalized hypotonia, Dystoni... OMIM:614407
Episodic Kinesigenic Dyskinesia 2
Chorea, Dystonia OMIM:611031
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Optic atrophy, Dystonia ORPHA:330050
Amyotrophic Lateral Sclerosis 2, Juvenile
Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lower motor ... OMIM:205100
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology OMIM:214300
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment... OMIM:612674
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Decreased body weight, Axial hypotonia, Facial hypotonia, Pain insensitivi... OMIM:300260
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, Truncal ataxia,... OMIM:617101
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Recurrent otitis media, Abnormal r... OMIM:617751
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Dystonia 15, Myoclonic
Writer's cramp, Dystonia OMIM:607488
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Unsteady gait, Pica, EEG abnormality, Low-set ears, Recurrent hand flapping OMIM:618480
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Tors... OMIM:128100
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Ataxia, Impaired distal proprioception, Optic atrophy, Impaired vibration sensat... ORPHA:447896
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia OMIM:314250
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Hypotonia, Brain atrophy, Dystonia OMIM:620359
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, EEG abnormality, Dystonia OMIM:612126
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... ORPHA:254881
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Sandifer Syndrome
Abnormal head movements, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflu... ORPHA:71272
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Aggressive behavior, Feeding difficulties, High palate... OMIM:616809
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia, Attention defici... OMIM:617384
Dystonia 16
Generalized dystonia, Postural tremor, Dysphagia, Retrocollis, Limb dystonia, Laryngeal dystonia OMIM:612067
Optic Atrophy-Intellectual Disability Syndrome
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Protruding ear, Abnormal h... ORPHA:401777
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Small for gestational age, Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis,... OMIM:261640
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Sensorineural hearing impairment ORPHA:3225
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Spastic tetraparesis, Optic atrophy, Hypotonia, Spastic d... ORPHA:391428
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Sensorineural hearing impairment, Aganglionic megacolon ORPHA:2155
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Ataxia, Dysphagia, Dysmetria, Spastic dysarthria, EEG abnormality, Dysdiadoch... ORPHA:313772
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Hypertonia, Dystonia, Failure to thrive, Infantile muscular hypotonia ORPHA:26792
Huntington Disease
Caudate atrophy, Oral-pharyngeal dysphagia, Rigidity, Aggressive behavior, Chorea, Cerebral atrop... ORPHA:399
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia OMIM:614249
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Continuous Spikes And Waves During Sleep
Dystonia, EEG with generalized polyspikes, Aggressive behavior, EEG with centrotemporal focal spi... ORPHA:725
Infantile Convulsions And Choreoathetosis
Chorea, Choreoathetosis, Athetosis, Dystonia, Normal interictal EEG ORPHA:31709
Mitochondrial Complex I Deficiency, Nuclear Type 5
Cerebellar atrophy, Axial hypotonia, Ataxia, Optic atrophy, Hypotonia, Dysphagia, Generalized hyp... OMIM:618226
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Aggressive behavior, Tremor, Chorea, Dysphagia, Hypertonia, Dystonia,... OMIM:619738
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Abnormal earlobe m... ORPHA:500159
Deafness And Myopia
Sensorineural hearing impairment OMIM:221200
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Cowden Syndrome 1
Hyperthyroidism, Goiter, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid ... OMIM:158350
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru... ORPHA:247815
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s... OMIM:618430
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Cerebral atrophy, Dystonia OMIM:610181
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Chorea, Choreoathetosis, EEG abnormality, Hypertonia, Dystonia, Spasticity ORPHA:71277
22Q11.2 Duplication Syndrome
Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno... ORPHA:1727
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Sensorineural hearing impairment, Dysphagia, Cerebral cort... OMIM:615911
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Choreoathetosis, EEG abnormality, Spasticity OMIM:606777
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, EEG abnormality, Dystonia, ... ORPHA:457205
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Ataxia, Oculogyric crisis, Rigidity, Chorea, Hypotonia, Dysphagia, Opisthotonus, Ch... ORPHA:13
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Impulsivity, Sensorineural hearing impairment, Hypotonia, Protrudi... OMIM:617854
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Optic disc pallor, Dystonia, Generalized hypotonia, Dysphagia OMIM:618230
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Sensorineural hearing impairment, Impaired vibration sensation in the lower limbs, Impaired propr... ORPHA:352641
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Cerebra... OMIM:611890
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Infantile axial hypotonia, Tremor, Scissor gait, Cerebral atrophy, Dystonia, ... ORPHA:521406
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements ORPHA:240103
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Dystonia, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Interictal ep... OMIM:619157
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Axial hypotonia, Ataxia, Anteverted ears, Multifocal epileptiform discharges, Dysmetria, Dystonia... OMIM:618087
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Decreased serum iron, Repetitive compulsive behavior, Abnormality of the ear, EEG abnormality, At... ORPHA:391372
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... OMIM:227010
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Spastic diplegia, Ataxia, Dystonia OMIM:619065
Combined Oxidative Phosphorylation Deficiency 35
Cerebral atrophy, EEG abnormality, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive OMIM:617873
16P11.2P12.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Dystonia ORPHA:261204
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated interests, Tics, Attentio... OMIM:617788
Alternating Hemiplegia Of Childhood 2
Choreoathetosis, Ataxia, Dystonia OMIM:614820
Developmental And Epileptic Encephalopathy 1
Axial hypotonia, Spastic tetraparesis, EEG with burst suppression, Dysphagia, Hypsarrhythmia, Cho... OMIM:308350
New-Onset Refractory Status Epilepticus
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... ORPHA:363558
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Severe temper tantrums, Ataxia, Ag... OMIM:617710
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, S... ORPHA:209905
Spinocerebellar Ataxia, Autosomal Recessive 17
Cerebellar atrophy, Ataxia, Hypotonia, Dysmetria, Gait ataxia, Truncal ataxia, Limb ataxia, Appen... OMIM:616127
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Rigidity, Chorea, Optic atrophy, Hypotonia, Dysphagia, Blepharospasm, ... OMIM:617282
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Postural tremor, Ataxia, Rigidity, Impaired vibration sensatio... ORPHA:98808
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Sensorineural hearing impairment, Short-segment aganglionic megacolon OMIM:619465
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Limb dystonia,... ORPHA:93958
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Increased circula... ORPHA:3240
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Cri-Du-Chat Syndrome
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Optic atrophy, P... OMIM:123450
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Craniometaphyseal Dysplasia
Conductive hearing impairment, Sensorineural hearing impairment, Facial palsy, Abnormal cranial n... ORPHA:1522
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Cerebellar atrophy, Decreased motor nerve conduction velocity, Sensorineural hearing impairment, ... OMIM:616192
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair ... OMIM:612650
Partington Syndrome
Limb dystonia, Lower limb spasticity, EEG abnormality, Focal dystonia OMIM:309510
Alazami Syndrome
Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... ORPHA:319671
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses... OMIM:617796
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Posteriorly rotated ears, Thyroid agenesis, Cryptorchidism, Abnormal antiheli... ORPHA:3047
Alternating Hemiplegia Of Childhood 1
Choreoathetosis, Dystonia OMIM:104290
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Gait ataxia, Brain atrophy, Low-set ears, Abnormal repetitive mannerisms... OMIM:616579
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Postural tremor, Ataxia, Tremor, Optic atrophy, Dysphagia, Dysmetria, Dystoni... OMIM:607694
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Cachexia, Chorea, Hypotonia, Athetosis, Hypertonia,... ORPHA:52503
Saethre-Chotzen Syndrome
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... ORPHA:794
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Cachexia, Head titu... ORPHA:300605
Spinocerebellar Ataxia 28
Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Lower limb hypertonia,... OMIM:610246
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements OMIM:245348
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Aggressive behavior, Tremor, Rigidity, Cerebral atrophy, Neurodegeneration, A... OMIM:300894
Dystonia 9
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms, Abnormal circulating... ORPHA:79155
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Small for gestational age, Sensorineural hearing impairment, Hypotonia, Cerebral atrophy, Athetos... OMIM:612073
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Ataxia, Hand tremor, Neurodegeneration, Dystonia, Spasticity OMIM:615889
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana... OMIM:609166
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Gait imbalance, Low-set ears, Dy... OMIM:619312
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Axial hypotonia, Dystonia OMIM:619647
Spinocerebellar Ataxia Type 11
Progressive cerebellar ataxia, Dysphagia, Dystonia ORPHA:98767
Infantile Krabbe Disease
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, ... ORPHA:206436
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysphagia, Dysmetria, Dysdiadochokinesis, Dystonia, S... OMIM:614487
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... ORPHA:206448
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, Hearing impairment, External ear malformation, A... ORPHA:138
Hereditary Methemoglobinemia
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Temporal cortical atrophy, At... ORPHA:621
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Hypotonia, Microtia, D... OMIM:616977
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, ... ORPHA:289494
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Low-set ears, Abnormal... OMIM:618205
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Abnormal autonomic nervous system physiology, Hashimoto thyroiditis, Goiter ORPHA:83601
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Torticollis, Head titubation, Hypotonia, Truncal ataxia, Limb ataxia, Limb dy... OMIM:617560
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Dysphagia, Dystonia OMIM:300857
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, EEG with burst suppression, Chorea, Opisthotonus, Hypsarrhythmia, Large earlobe,... OMIM:618792
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Axial hypotonia, Optic atrophy, Dysphagia, Hypsarrhythmia, Dystonia, Cer... OMIM:617669
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhy... ORPHA:457351
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Protruding ear, EEG abnormality, Athetosis, Bruxism, Abnormal... OMIM:613454
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Chorea, Cogwheel rigidity, Attention deficit hyperactivity disorder, Dyst... OMIM:619725
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Spastic paraplegia, Optic atrophy, Spastic tetraplegia, Dystonia, Neonatal hypotonia OMIM:245349
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Spinocerebellar Ataxia Type 3
Abnormal vestibular function, Progressive cerebellar ataxia, Dystonia ORPHA:98757
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti... OMIM:619435
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Azoospermia, Infertility, At... ORPHA:10
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Facial palsy, Impaired distal proprioception, Rigidity, Sensorineural hearing... OMIM:258450
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Rigidity, Hypotonia, Focal dyst... ORPHA:101150
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia OMIM:241520
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Sensorineural hearing impairment, Incomplete partition of the cochlea type II OMIM:617660
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Limb ataxia, Upper limb spasticity, Dystonia OMIM:618418
Deafness, Autosomal Recessive 103
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia OMIM:616042
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Spastic paraplegia, Dysmetria, Upper... OMIM:609195
Björnstad Syndrome
Sensorineural hearing impairment ORPHA:123
Facioscapulohumeral Dystrophy
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration ORPHA:269
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia ORPHA:53583
Anaplastic Thyroid Carcinoma
Nodular goiter, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, EEG with abnormally slow frequencies, Chorea, Hypotonia, Multifocal... ORPHA:70472
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Transketolase Deficiency
Elevated circulating ribitol concentration, Self-injurious behavior, Attention deficit hyperactiv... ORPHA:488618
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... ORPHA:90024
Basal Ganglia Calcification, Idiopathic, 1
Tremor, Rigidity, Chorea, Athetosis, Dysdiadochokinesis, Dystonia, Limb dysmetria OMIM:213600
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Rigidity, Cerebral atrophy, Dystonia OMIM:600116
Lesch-Nyhan Syndrome
Self-injurious behavior, Testicular atrophy, Dysphagia OMIM:300322
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Cerebral atrophy, Low-set ears, Dystonia, Spasticity OMIM:610333
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Hypercalcemia ORPHA:2668
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Optic disc pallor, Axial hypotonia, Cerebral atrophy, Low-set ears, Dyst... OMIM:617762
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Polydipsia, Enlarged vestibular aqueduct ORPHA:18
Dystonia 28
Torticollis, Generalized dystonia, Leg dystonia, Arm dystonia, Attention deficit hyperactivity di... ORPHA:589618
Dystonia 12
Tremor, Torticollis, Dysphagia, Dystonia OMIM:128235
Dystonia 16
Torticollis, Postural tremor, Dysphagia, Limb dystonia ORPHA:210571
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis OMIM:614602
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Isotretinoin-Like Syndrome
Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi... ORPHA:2306
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms, EEG with... ORPHA:397612
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation OMIM:300486
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res... OMIM:146510
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Hypotonia, Dysmetria, Gait ataxia, Dystonia OMIM:203740
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Generalized hypotonia, D... OMIM:233910
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Cerebral atrophy, Progressi... ORPHA:309246
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Dystonia OMIM:618239
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... OMIM:617061
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ... ORPHA:449291
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, D... OMIM:614898
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Protruding ear, EEG abnormality, Hypercholesterolemia, Abnormal... ORPHA:2479
Rett Syndrome
Cachexia, Bruxism, Truncal ataxia, Gait ataxia, EEG abnormality, Dystonia, Spasticity, Cerebral c... OMIM:312750
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Low-set ear... OMIM:616393
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Failure to thrive, Axial hypotonia, Hyperactivity, Ataxia, Aggressive beha... OMIM:300912
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Ataxia, Tremor, Chorea, Axonal degeneration, Impaired distal vibration sensat... OMIM:208920
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst... ORPHA:261197
Tick-Borne Encephalitis
Somatic sensory dysfunction, Facial palsy, Anorexia, Tremor, Vertigo, Abnormal cranial nerve morp... ORPHA:297
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Generalized hypotonia, Dystonia OMIM:618224
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Ataxia, Impulsivity, Aggressive behavior, Limb ataxia, Cogwh... OMIM:607454
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Facial palsy, Rigidity, Truncal titubation, Chorea, Dysphagia, Opisthotonus, Cog... OMIM:607483
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Optic atrophy, Cerebral atrophy, Dysphagi... OMIM:610217
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... ORPHA:168491
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cachexia, Facial diplegia, Low-set... OMIM:618186
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Primary Dystonia, Dyt4 Type
Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, ... ORPHA:98805
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia, Failure to thrive ORPHA:79312
2,4-Dienoyl-Coa Reductase Deficiency
Cerebellar atrophy, Ataxia, Optic atrophy, Hypotonia, Cerebral atrophy, Choreoathetosis, Dystonia... OMIM:616034
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Gastroesophageal reflux ORPHA:85277
Congenital Disorder Of Glycosylation, Type Ii
Dystonia, Sensorineural hearing impairment, Hypsarrhythmia, Low-set ears, Decreased body weight, ... OMIM:607906
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor, Obesity, Recurr... OMIM:619680
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Axial hypotonia, Ataxia, Cerebral atrophy, Dysmetria, Pseudobulbar paralys... OMIM:616140
D-Glyceric Aciduria
Axial hypotonia, Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Hypo... OMIM:220120
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded superior helices, Gait ... OMIM:300352
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Recurrent o... OMIM:614874
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysphagia, Dysmetria, Gait ataxia, Dysdiadocho... OMIM:614381
Kleefstra Syndrome 1
Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri... OMIM:610253
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, E... OMIM:616050
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Hypertriglyceridemia, Hypercalcemia, Multifocal epileptiform discharges, EEG ... ORPHA:369837
Allan-Herndon-Dudley Syndrome
Axial hypotonia, Small for gestational age, Failure to thrive in infancy, Ataxia, Spastic tetrapl... ORPHA:59
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner... OMIM:618914
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Rigidity, Limb ataxia, Hypertonia, Limb dystonia OMIM:618824
Chromosome 5P13 Duplication Syndrome
Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r... OMIM:613174
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Ataxia, Head titubation, Dysesthesia, Cerebral atrophy, Generalized hypotonia... ORPHA:527497
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Chorea, Dystonia, Limb hypertonia ORPHA:324588
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Dystonia, Failure to thrive OMIM:250620
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Aggressive behavior, Feeding difficulties in infancy, Chronic constipation, High palate, Attentio... OMIM:618825
Pontocerebellar Hypoplasia, Type 14
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619301
Aicardi-Goutieres Syndrome 3
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:610329
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia OMIM:260300
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:252650
Posttransplant Acute Limbic Encephalitis
Ataxia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Abnormal au... ORPHA:163921
Jaberi-Elahi Syndrome
Appendicular spasticity, Tremor, Optic atrophy, Hypotonia, Dysmetria, Protruding ear, Choreoathet... OMIM:617988
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Progressive cerebellar ataxia, Dy... OMIM:277460
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Cerebellar atrophy, Dystonia, Optic atrophy, EEG abnormality, Progressive cerebellar ataxia, Dysp... OMIM:618868
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cerebellar atrophy, Dystonia, Posteriorly rotated ears, Ataxia, Prominent crus of helix, Inabilit... OMIM:617804
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Reduced sperm motility OMIM:602271
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, EEG abnormality, Generalized hypotonia, Dystonia, Spasticity OMIM:613970
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Encephalopathy Due To Prosaposin Deficiency
Hypotonia, Dystonia ORPHA:139406
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Generalized hypo... OMIM:312170
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Hyperactivity, Axial hypotonia, Ataxia, Spastic tetraparesis, Impulsivity, Op... ORPHA:35069
Albinism-Deafness Syndrome
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... ORPHA:998
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Truncal ataxia, Dysmetria, Gait ataxia, Nonprogressive cerebellar ataxia, Dystonia, Infantile mus... ORPHA:453521
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Focal polymicrogyria, Cryptorchidism, Head-banging, Attention deficit hyperactivity ... OMIM:619103
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Axial hypotonia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, ... OMIM:618321
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait disturbance, Difficulty ... ORPHA:90321
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Neuromuscular dysphagia, Limb ataxia, ... ORPHA:227510
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Optic atrophy, Limb ataxia, Chor... OMIM:617595
Spastic Paraplegia 47, Autosomal Recessive
Overweight, Spastic paraplegia, Hypertonia, Dystonia, Neonatal hypotonia, Spasticity OMIM:614066
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Dystonia, Limb h... ORPHA:70594
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Chorea, Hypotonia, Choreoathetosis, Dystonia, Limb hypertonia OMIM:606703
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss
Sensorineural hearing impairment OMIM:267300
Shigellosis
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, B... ORPHA:810
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Optic atrophy, Truncal ataxia, Dystonia, Neonatal hypotonia, Spasticity OMIM:252011
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Optic atrophy, Hypotonia, Dysphagia, Choreoathetosis, Dystonia, Spast... OMIM:617664
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Aggressive behavior, Narrow palate, Feeding difficulties, Self-... ORPHA:313892
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear ORPHA:261144
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypot... ORPHA:251347
Ataxia-Telangiectasia-Like Disorder 1
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Hypotonia, Dysmetria, Gait ataxia, Cho... OMIM:604391
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Axial hypotonia, Spastic tetraparesis, Hypotonia, EEG abnormality, Dystonia, Cerebral cortical at... OMIM:617668
Nabais Sa-De Vries Syndrome, Type 2
Posteriorly rotated ears, Failure to thrive in infancy, Chorea, Protruding ear, Microtia, Low-set... OMIM:618829
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Sensorineural hearing impairment, Hypotonia, Spastic tetraplegia, Opis... OMIM:619847
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Increased theta frequency activity in EEG, EEG with focal epileptifo... ORPHA:1929
Metachromatic Leukodystrophy, Late Infantile Form
Dystonia, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxi... ORPHA:309256
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... ORPHA:102
3P25.3 Microdeletion Syndrome
Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac... ORPHA:435638
Infantile Dystonia-Parkinsonism
Axial hypotonia, Oculogyric crisis, Chorea, Hypertonia, Dystonia, Limb hypertonia ORPHA:238455
Congenital Disorder Of Glycosylation, Type Iia
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L... OMIM:212066
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Pseudobulbar paralysis, Dystonia, Cerebral cortical atrophy, Impaired vibr... ORPHA:101006
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Intellectual Developmental Disorder, Autosomal Recessive 41
Abnormal repetitive mannerisms, Self-injurious behavior, Recurrent pneumonia, High palate OMIM:615637
Ocular Albinism With Late-Onset Sensorineural Deafness
Sensorineural hearing impairment, Ocular albinism ORPHA:1000
Harel-Yoon Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Optic atrophy, Hypotonia, Dystonia, Spasticity OMIM:617183
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Axial hypotonia, Posteriorly rotated ears, EEG with focal spike waves, Ata... OMIM:619229
Pontocerebellar Hypoplasia, Type 15
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619302
Smith-Magenis Syndrome
Impaired pain sensation, EEG abnormality, Self-injurious behavior, Gait disturbance, Attention de... ORPHA:819
Alg3-Cdg
Abnormal pinna morphology, Spastic tetraparesis, Hypotonia, Subcortical cerebral atrophy, Hyperto... ORPHA:79321
Mitochondrial Myopathy With Lactic Acidosis
Spasticity, Hypotonia, Dysmetria, Dystonia OMIM:251950
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Ataxia, Hypotonia, Hypsarrhythmia, Head tremor, Contin... OMIM:619428
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Hypokalemic Tubulopathy And Deafness
Sensorineural hearing impairment, Increased circulating renin level OMIM:619406
Perrault Syndrome 2
Sensorineural hearing impairment OMIM:614926
Gapo Syndrome
Dysmenorrhea, Hearing impairment, Optic atrophy, Oligozoospermia, Hypogonadism, Low-set ears, Ame... ORPHA:2067
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Lower limb hypertonia, Pseudo... ORPHA:438114
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Phelan-Mcdermid Syndrome
Broad-based gait, Impaired pain sensation, Aggressive behavior, Tongue thrusting, Unsteady gait, ... OMIM:606232
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Low-set ears, Dystonia, Spasticity OMIM:619286
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Tremor, Chorea, Impaired distal vi... OMIM:606002
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... OMIM:171400
Rett Syndrome
Stereotypical hand wringing, EEG abnormality, Agitation, Abnormal autonomic nervous system physio... ORPHA:778
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Brain Dopamine-Serotonin Vesicular Transport Disease
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Dysdiadochoki... ORPHA:352649
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Chorea, Hypotonia, Attention deficit hyperactivity disorder, Recurr... OMIM:617600
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Dystonia, Optic nerve hypoplasia, Inability to walk, Sensorineural h... ORPHA:300570
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia ORPHA:99657
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Dystonia ORPHA:314632
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Spastic paraplegia, Optic atrophy, ... ORPHA:254913
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Decerebrate rigidity... ORPHA:309263
Dilated Cardiomyopathy With Ataxia
Dystonia, Ataxia, Repetitive compulsive behavior, Optic atrophy, Bilateral sensorineural hearing ... ORPHA:66634
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... OMIM:301074
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... ORPHA:525731
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Pheochromocytoma, Elevated circulating calcitonin concentration, Nod... ORPHA:1332
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Truncal ataxia, Dysphagia, Li... OMIM:109150
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... OMIM:615656
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Bilateral Generalized Polymicrogyria
Axial hypotonia, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Self-injuriou... ORPHA:208447
Leukodystrophy, Hypomyelinating, 25
Gait ataxia, Hypotonia, Dystonia OMIM:620243
Hijazi-Reis Syndrome
Chronic constipation, Abnormal repetitive mannerisms, Gastroesophageal reflux, Gastrostomy tube f... OMIM:301094
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Failure to thrive, Axial hypotonia, Hypotonia, Cerebral atrophy, Prominent antihelix, Hypertonia,... OMIM:615802
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Bowel incontinence ORPHA:168782
White-Sutton Syndrome
Waddling gait, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behavi... OMIM:616364
Lead Poisoning
Abnormal sperm morphology, Decreased female libido, Anorexia, Abnormality of the menstrual cycle,... ORPHA:330015
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Generalized hypotonia, Attention def... OMIM:610042
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Baralle-Macken Syndrome
Obesity, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy OMIM:619255
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:619224
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy, Hypotonia, Abnormal temper tantrums, Abnormal repetitive ma... ORPHA:530983
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti... ORPHA:468678
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-dehydrocholes... ORPHA:401973
Spinocerebellar Ataxia Type 8
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Dysphagia, Gait ataxia, Spast... ORPHA:98760
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Spastic tetraplegia, Dystonia OMIM:618646
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Oromandibular dystonia OMIM:602124
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Rigidity, Gait ataxia, Progressive cerebellar at... ORPHA:98933
Blepharophimosis-Impaired Intellectual Development Syndrome
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Attention deficit hyperactivity disorder, ... OMIM:619293
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Agitation, Abnormal autonomic nervous system physiology, Bruxism, Recurrent hand flapping OMIM:617903
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Caudate atrophy, Aggressive beha... OMIM:200150
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Brain atrophy, Cerebral cortical hemiatrophy, Generalized hypotonia ORPHA:306669
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Pontocerebellar Hypoplasia, Type 2A
Restlessness, Chorea, Optic atrophy, Dysphagia, Opisthotonus, Dystonia, Cerebral cortical atrophy OMIM:277470
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Optic atrophy, Hypotonia, Dystonia, Spasticity, Failure to thrive OMIM:614702
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism, Self-injuriou... ORPHA:228402
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Ab... OMIM:619695
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia OMIM:615905
Developmental And Epileptic Encephalopathy 86
Small for gestational age, Generalized hypotonia, Dystonia OMIM:618910
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Huntington Disease-Like 3
Caudate atrophy, Ataxia, Chorea, Frontal cortical atrophy, Dystonia, Spasticity OMIM:604802
Dentatorubral Pallidoluysian Atrophy
Ataxia, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Choreoath... ORPHA:101
Cimdag Syndrome
Ataxia, Sensorineural hearing impairment, Chorea, Hypotonia, Cerebral atrophy, Pontocerebellar at... OMIM:619273
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Frontal cortical atrophy, Abnormal repetitive mannerisms, Hypotonia ORPHA:228384
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Opisthotonus, Choreoathetosis, Dysto... OMIM:619653
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment OMIM:606943
Parkinson Disease 6, Autosomal Recessive Early-Onset
Rigidity, Resting tremor, Dystonia OMIM:605909
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Resting tremor, Ataxia, Abnor... ORPHA:909
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Spasticity, Ataxia, Hypotonia, Dystonia OMIM:620094
Blepharonasofacial Malformation Syndrome
External ear malformation, Optic atrophy, Torsion dystonia, Hearing impairment ORPHA:1252
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Impulsi... OMIM:614298
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Neuromuscular dysphagia, Rigidity, Dystonia ORPHA:240085
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Hea... ORPHA:420492
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Weight loss, Opisthotonus, Attention deficit hyperactivi... ORPHA:216866
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia ORPHA:289916
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Spastic tetraplegia, Dysmetria, Facial diplegia, Attention def... OMIM:619121
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Impaired or... ORPHA:53351
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Abnormal vestibular function, Cerebellar atrophy, Dysphag... ORPHA:276244
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Infertility, ... OMIM:613808
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Axial hypotonia, Spastic tetraplegia, Cerebral atrophy, Generalized hypotonia... OMIM:619125
Leukodystrophy, Hypomyelinating, 20
Cerebellar atrophy, Torticollis, Spastic tetraplegia, Hypertonia, Dystonia OMIM:619071
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Optic atrophy, Dysphagia, Macrotia, Abnormal repetitive man... ORPHA:496641
Filippi Syndrome
Cerebellar atrophy, Decreased body weight, Optic atrophy, Dystonia OMIM:272440
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Aggressive behavior, Tremor, Rigidity, Spastic paraplegia, Dysphagia, Distal... OMIM:606693
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Multinodular goiter OMIM:620189
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Axial hypotonia, Generalized dystonia, Dystonia, Tremor, Scissor gait, Hypoto... OMIM:617013
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Ataxia, Obesity, Dystonia ORPHA:459033
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Facial palsy, Temporal cortical atrophy, Brain atrophy, Dystonia, Frontal cortical atrophy OMIM:167320
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Macrotia, Bilateral sensorineural hearing impairment, Congenital hypothyroidism ORPHA:521445
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive spastic quadriplegia, Pro... ORPHA:309271
Autosomal Dominant Progressive External Ophthalmoplegia
Cerebellar atrophy, Hyperthyroidism, Diabetes mellitus, Facial palsy, Goiter, Facial diplegia, Hy... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Sensorineural hearing impairment, Hypotonia, Cerebral atrophy, Dystonia OMIM:620167
Developmental And Epileptic Encephalopathy 29
Axial hypotonia, Chorea, Cerebral atrophy, Blepharospasm, Limb dystonia, Spasticity, Failure to t... OMIM:616339
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... ORPHA:652
Machado-Joseph Disease Type 1
Cerebellar atrophy, Abnormal vestibular function, Dysphagia, Progressive cerebellar ataxia, Progr... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Abnormal vestibular function, Dysphagia, Progressive cerebellar ataxia, Progr... ORPHA:276241
Spinocerebellar Ataxia Type 6
Dystonia, Dysphagia, Gait ataxia, Blepharospasm, Progressive cerebellar ataxia, Choking episodes,... ORPHA:98758
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ataxia, EEG with focal sharp waves, Hypotonia, Cerebral atrophy, Hypsa... ORPHA:79243
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Hypotonia, Truncal ataxia, Hypsarrhythmia, Dystonia, Failure to thrive ORPHA:88639
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Low-set ears, Abnormal repe... ORPHA:457279
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Head-banging, Self-injurious behavior, Low-set ears, Attention ... OMIM:619575
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Charge Syndrome
Mixed hearing impairment, Facial palsy, Aplasia of the semicircular canal, Sensorineural hearing ... OMIM:214800
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Pill-rolling tremor, Dystonia, Spasticity, Limb hypertonia OMIM:615528
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Recurrent otitis media, Conductive hearing impairment, Abno... ORPHA:244
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular... ORPHA:420485
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Hypertonia, Compulsive behaviors... OMIM:300986
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... ORPHA:1001
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Severe muscular hypotonia, Ataxia, Tremor, Rigidity, Vertigo, Ch... ORPHA:25
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Obesity, Atrophy/Degeneration... OMIM:616267
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Increased theta frequency activity in EEG, EEG with focal spikes, Attention ... ORPHA:98784
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... ORPHA:521426
Cardiospondylocarpofacial Syndrome
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... OMIM:157800
Mitochondrial Membrane Protein-Associated Neurodegeneration
Rigidity, Optic atrophy, Hand tremor, Dysphagia, Dystonia, Spastic paraparesis, Spasticity ORPHA:289560
Gaucher Disease Type 2
Spasticity, Dysphagia, Dystonia ORPHA:77260
Childhood Absence Epilepsy
Punding, Jerky head movements, Attention deficit hyperactivity disorder, EEG with spike-wave comp... ORPHA:64280
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Fair hair, Optic atrophy ORPHA:79330
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Decreased body weight, Abnormal repetitive mannerisms, Paroxysmal bursts of l... OMIM:618347
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Hypotonia, Spastic tetraplegi... OMIM:250100
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Chorea, Hypotonia, Cerebral ... OMIM:272750
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Cerebral atrophy, Dystonia, Spasticity ORPHA:542310
Leber Optic Atrophy
Ataxia, Postural tremor, Optic neuropathy, Optic atrophy, Dystonia OMIM:535000
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Cerebral atrophy, Dysphagia, L... ORPHA:79264
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Optic atrophy, Spastic tetra... OMIM:616878
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morphology, EEG... ORPHA:649
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Infantile axial hypotonia, EEG with burst suppression, Hypsarrhythmia, Motor tics,... OMIM:616973
Pontocerebellar Hypoplasia, Type 2B
Cerebellar atrophy, Axial hypotonia, Chorea, Hypotonia, Cerebral atrophy, Opisthotonus, Dysphagia... OMIM:612389
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Cerebellar atrophy, Abnormal pinna morphology, Small for gestational age, Ataxia, Hypotonia, Cere... OMIM:615471
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... ORPHA:324964
Duane Retraction Syndrome
External ear malformation, Sensorineural hearing impairment, Blepharospasm, Stenosis of the exter... ORPHA:233
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Neuroferritinopathy
Resting tremor, Caudate atrophy, Writer's cramp, Chorea, Leg dystonia, Dysphagia, Focal dystonia,... ORPHA:157846
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... OMIM:619802
Myopathy With Extrapyramidal Signs
Hyperactivity, Ataxia, Tremor, Chorea, Optic atrophy, Hypotonia, Choreoathetosis, Dystonia OMIM:615673
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Choreoathetosis, Ataxia, Generalized hypotonia, Dystonia OMIM:618416
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity OMIM:619616
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... ORPHA:98813
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Reduced sperm motility OMIM:608647
Developmental Malformations-Deafness-Dystonia Syndrome
Sensorineural hearing impairment, Generalized dystonia, Dysphagia ORPHA:79107
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Ataxia, Dystonia OMIM:230650
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Tremor, Rigidity, Head titubation, Hypotonia, Cerebral atrophy, Gait ataxia, Choreoathetosis, Tru... OMIM:618877
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Kleefstra Syndrome
Aggressive behavior, Chronic otitis media, Self-injurious behavior, Cerebral cortical atrophy, Th... ORPHA:261494
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Nausea and vomiting, Hyperactivity, Aggressive behavior, Gastroesophageal reflux, High palate, At... OMIM:620242
Coenzyme Q10 Deficiency, Primary, 5
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia OMIM:614654
Gm1 Gangliosidosis
Failure to thrive, Generalized dystonia, Ataxia, Tremor, Optic atrophy, Hypotonia, Dysphagia, Wei... ORPHA:354
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Ataxia, Dystonia OMIM:616113
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Liang-Wang Syndrome
Cerebellar atrophy, Axial hypotonia, Ataxia, Cerebral atrophy, Dystonia OMIM:618729
Treacher-Collins Syndrome
Cryptorchidism, Microtia, Hypoplasia of the thymus, Abnormality of the adrenal glands, Conductive... ORPHA:861
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Axial hypotonia, Optic nerve hypoplasia, Dysphagia, Spasticity, Abnormal repetitive mannerisms ORPHA:572013
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Cerebral atrophy, D... ORPHA:572798
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Hypotonia, Dystonia OMIM:246900
Partington Syndrome
EEG abnormality, Lower limb spasticity, Limb dystonia ORPHA:94083
Aicardi-Goutieres Syndrome 6
Tremor, Rigidity, Dystonia OMIM:615010
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Dysphagia, Abnormal autonomic nervous system physiology, Dyston... OMIM:168600
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Posteriorly rotated ears, Oligozoospermia, Clitoral hypoplasia, Microtia, Low-... OMIM:614813
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Premature thelarche, Polycystic ovaries, Type I diabetes mellitus, Nodular goiter ORPHA:371428
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Dysphagia, Hypsarrhythmia, Protruding ear, Brain atrophy, Low-set ea... ORPHA:447997
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overf... OMIM:617330
Polyendocrine-Polyneuropathy Syndrome
Progressive hearing impairment, Ataxia, Dystonia ORPHA:453533
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Agitation, ... ORPHA:927
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... ORPHA:33543
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Hypotonia, Athetosis, Dystonia, Spasticity, Hearing impairment ORPHA:357058
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Postural tremor, Ataxia, Dysphagia, Choreoathetosis, Head tremor, Dy... ORPHA:64753
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Decre... OMIM:216400
Cadds
Cerebellar atrophy, Sensorineural hearing impairment, Dystonia ORPHA:369942
Metachromatic Leukodystrophy
Dystonia, Ataxia, Tremor, Decreased nerve conduction velocity, Addictive behavior, Decerebrate ri... ORPHA:512
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia... ORPHA:91351
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Goit... ORPHA:201
Lipoyltransferase 1 Deficiency
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia OMIM:616299
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic otitis media, Reduced progressive sperm motility OMIM:619608
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... ORPHA:431361
Pitt-Hopkins Syndrome
Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms OMIM:610954
Dystonia 26, Myoclonic
Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia OMIM:616398
Hermansky-Pudlak Syndrome 10
Axial hypotonia, Dystonia, Cerebral atrophy, EEG abnormality, Low-set ears, Generalized hypotonia... OMIM:617050
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia OMIM:618999
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Hypertonia, Dystonia ORPHA:96
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... ORPHA:329308
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Axial hypotonia, Dystonia ORPHA:289504
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Lingual thyroid OMIM:606519
Manganese Poisoning
Postural tremor, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Hypertonia, Inappropriat... ORPHA:306682
Wieacker-Wolff Syndrome
Facial palsy, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Low-set ears, Spasticity OMIM:314580
Pseudo-Torch Syndrome 1
Axial hypotonia, Hypotonia, Low-set ears, Dystonia, Spasticity, Failure to thrive OMIM:251290
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Dystonia, Impulsivity, Rigidity, Optic atrophy, Leg dystonia, Choreoatheto... ORPHA:157850
Perry Syndrome
Tremor, Rigidity, Weight loss, Inappropriate behavior, Disinhibition, Dystonia OMIM:168605
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Posteriorly rotated ears, Sensorineural hearing impairment, Cerebral atrophy, Microtia, Low-set e... OMIM:301040
Tay-Sachs Disease
Cerebellar atrophy, Exaggerated startle response, Dystonia, Tremor, Optic atrophy, Dysphagia, Dys... ORPHA:845
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Axial hypotonia, Optic atrophy, Dysphagia, Hypsarrhythmia, Increased cup-to-disc ratio, Dystonia,... ORPHA:500144
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga... ORPHA:96121
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Aggressive behavior... OMIM:614756
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Generalized hypotonia, ... OMIM:616811
Autosomal Recessive Spastic Paraplegia Type 78
Cerebellar atrophy, Progressive spastic quadriplegia, Progressive gait ataxia, Progressive cerebe... ORPHA:513436
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Head tremor, Dystonia OMIM:619724
Mucopolysaccharidosis Type 2
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Impulsivity, Aggre... ORPHA:580
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Small for gestational age, Hypotonia, Spastic tetraplegia, Hypsarrhythmia, Hypertonia, Dystonia, ... OMIM:620024
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, ... OMIM:608643
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Abnormal repetitive mannerisms OMIM:618067
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Axial hypotonia, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Ge... OMIM:616875
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Spasticity, Pallidal degeneration, Dysphagia, Dystonia OMIM:607236
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Head titubation, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysph... OMIM:619708
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, Ataxia, External ear m... ORPHA:438216
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Agitation, Abnormal autonomic nervous system physio... ORPHA:2828
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Atrophy of the spinal cord, Hypotonia, Focal dystonia, Spastic dysarthria, Progr... ORPHA:447757
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... ORPHA:540
Glutaric Acidemia I
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... OMIM:231670
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Perive... ORPHA:468631
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Intenti... OMIM:619475
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyro... OMIM:162300
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Aggressive behav... ORPHA:2131
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Self-in... OMIM:619512
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Dysphagia, Blepharospasm, Dystonia, Neuronal loss in central nervo... ORPHA:683
Chromosome 18P Deletion Syndrome
Small for gestational age, Posteriorly rotated ears, Hypotonia, Dystonia, Macrotia OMIM:146390
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Ataxia, Oral-pharyngeal dysphagia, Tremor, Spastic diplegia, Thickened ears, ... OMIM:300966
Corticobasal Syndrome
Limb dystonia, Somatic sensory dysfunction, Tremor, Dystonia, Progressive extrapyramidal muscular... ORPHA:454887
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... ORPHA:90038
Alzheimer Disease 3
Dystonia, Spastic tetraparesis, Dysphagia, Cerebral cortical atrophy, Optic ataxia OMIM:607822
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Cholesteatoma OMIM:610978
Caribbean Parkinsonism
Orthostatic hypotension, Rigidity, Progressive gait ataxia, Abnormal autonomic nervous system phy... ORPHA:97355
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Absent nipple, Aplasia of the thymus, Facial palsy, Optic disc coloboma... OMIM:620186
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Sensorineural hearing impairment, Chorea, Optic atrophy, Dysphagia, Gait ataxia, Hyperton... ORPHA:255210
Hereditary Late-Onset Parkinson Disease
Resting tremor, Impulsivity, Rigidity, Dysphagia, Weight loss, Agitation, Dystonia, Cerebral cort... ORPHA:411602
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Axial hypotonia, Asymmetry of the ears, EEG with burst suppression, Cerebral ... OMIM:619124
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Ataxia, Tremor, Rigidity, Optic atrophy, Phonic tics, Dysphagia, Bleph... OMIM:234200
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Infantile axial hypotonia, Chorea, Dysphagia, Titubation, Gait ataxia, ... ORPHA:225147
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... ORPHA:522077
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Bainbridge-Ropers Syndrome
Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set ears, Recurrent han... OMIM:615485
Schinzel-Giedion Syndrome
Abnormality of the stapes, Aganglionic megacolon, Dysphagia, Hypsarrhythmia, Abnormal cochlea mor... ORPHA:798
Atypical Juvenile Parkinsonism
Resting tremor, Rigidity, Gait ataxia, Brain atrophy, Dystonia ORPHA:391411
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Ataxia, Sensorineural hearing impairment, Optic atrophy, Dysphagia, Hypertonia, Dystonia, Global ... ORPHA:480864
Pyruvate Dehydrogenase Deficiency
Ataxia, Tremor, Hypotonia, Choreoathetosis, Dystonia, Spasticity ORPHA:765
Aicardi-Goutieres Syndrome 9
Axial hypotonia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Weig... OMIM:619487
Developmental And Epileptic Encephalopathy 38
Axial hypotonia, Ataxia, Hypsarrhythmia, Dystonia, Limb hypertonia OMIM:617020
Slc39A8-Cdg
Cerebellar atrophy, Severe muscular hypotonia, Failure to thrive in infancy, Hypsarrhythmia, Low-... ORPHA:468699
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia OMIM:250850
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Rigidity, Abnormal autonomic nervous system physiology, Limb dystonia, Spasticity... OMIM:616840
Otosclerosis 10
Otosclerosis OMIM:615589
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Gait ataxi... ORPHA:513456
Choreoacanthocytosis
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Dec... ORPHA:2388
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, EEG with spike-wave complexes, Tremo... ORPHA:1934
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Leigh Syndrome
Cerebellar atrophy, Failure to thrive, Dystonia, Ataxia, Sensorineural hearing impairment, Chorea... ORPHA:506
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Developmental And Epileptic Encephalopathy 51
Cerebellar atrophy, Corpus callosum atrophy, Hypotonia, Dystonia, Failure to thrive, Cerebral cor... OMIM:617339
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypotha... ORPHA:2166
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Reduced sperm motility OMIM:615434
Kcnq2-Related Epileptic Encephalopathy
EEG with burst suppression, Hypotonia, Cerebral atrophy, Hypsarrhythmia, Dystonia ORPHA:439218
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Hengel-Maroofian-Schols Syndrome
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Dystonia, Spasticity OMIM:619641
Niemann-Pick Disease, Type C1
Ataxia, Hypotonia, Dysphagia, Gait ataxia, Generalized hypotonia, Dystonia, Spasticity, Neuronal ... OMIM:257220
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Axial hypotonia, Small for gestational age, Ataxia, Optic atrophy, Hypotonia,... OMIM:251300
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Labial hypoplasia, ... OMIM:620073
Classic Galactosemia
Ataxia, Postural tremor, Attention deficit hyperactivity disorder, Dystonia, Action tremor ORPHA:79239
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Diffuse cerebral atrophy, Decerebrate rigidity, Low-set ears, Dysto... ORPHA:79255
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix OMIM:614576
Waardenburg Syndrome, Type 4C
White eyelashes, Aganglionic megacolon, White eyebrow, Sensorineural hearing impairment, Blue iri... OMIM:613266
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitiv... OMIM:301066
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Cerebral atrophy, Protruding ear, Microtia, Attention deficit hy... OMIM:301030
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Floating-Harbor Syndrome
Restlessness, Broad-based gait, Impulsivity, Aggressive behavior, Cochlear malformation, Compulsi... ORPHA:2044
3-Methylglutaconic Aciduria, Type Viii
Tremor, Sensorineural hearing impairment, Hypotonia, Cerebral atrophy, Dysphagia, Hypertonia, Gen... OMIM:617248
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Upper limb postural tremor, Aggressive behavior, Tremor, Rigidity... OMIM:612953
Parkinsonian-Pyramidal Syndrome
Rigidity, Dysphagia, Abnormal autonomic nervous system physiology, Dystonia, Spasticity, Intentio... ORPHA:171695
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low-set ears, Dysphagia, Abnormal repetitive mannerisms ORPHA:319182
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Impulsivity, Tremor, Neuromuscular dysphagia, Blepharospasm, Dystonia, Progressiv... ORPHA:240071
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Dystonia, Ataxia, Hearing impairment, Aggressive behavior,... ORPHA:646
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Nmda Receptor Encephalitis
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Rigidity, Hypersexuality, EE... ORPHA:217253
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... ORPHA:3260
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overfolded helix, Difficulty walking, Abnormal repetitive mannerisms, Low-set ears OMIM:618653
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Scis... ORPHA:466722
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Posteriorly rotated ears, Cupped ear, Optic atrophy, Cerebral atrophy, Protruding ... OMIM:309590
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... ORPHA:707
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplas... OMIM:620330
Fucosidosis
Hypotonia, Spastic tetraplegia, Cerebral atrophy, Low-set ears, Dystonia, Failure to thrive, Spas... OMIM:230000
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... ORPHA:476126
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermi... ORPHA:125
Aceruloplasminemia
Torticollis, Ataxia, Tremor, Rigidity, Chorea, Limb ataxia, Gait ataxia, Blepharospasm, Dystonia,... ORPHA:48818
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Hypospadias, Cryptorchidism, Abnormality of neuronal migration, Protruding ear... ORPHA:464311
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Atypical Progressive Supranuclear Palsy Syndrome
Extrapyramidal muscular rigidity, Tremor, Rigidity, Focal dystonia, Blepharospasm, Inappropriate ... ORPHA:99750
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Sepsis In Premature Infants
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... ORPHA:90051
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Japanese Encephalitis
Decreased motor nerve conduction velocity, Facial palsy, Anorexia, Tremor, Paucity of anterior ho... ORPHA:79139
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Thickened helices, Self-mutilation, Ataxia, Low-set ears, Bruxism, Limb hypertonia, Axial hypoton... OMIM:619950
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Propionic Acidemia
Axial hypotonia, Cerebral atrophy, Dystonia, Failure to thrive, Limb hypertonia OMIM:606054
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Primary hyperp... ORPHA:653
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Ataxia, Tremor, Chorea, Hypotonia, Cerebral atrophy, Truncal ataxia, Athetosi... OMIM:615356
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Spasticity, Ataxia, Dystonia OMIM:617341
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, D... OMIM:616271
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal hypotonia, Optic atrophy, Low-set, posteriorly rotated ears, Dystonia ORPHA:457193
Kinsship Syndrome
Abnormal repetitive mannerisms, Brain atrophy, Low-set ears, Bruxism OMIM:619297
Coach Syndrome 1
Optic disc pallor, Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity OMIM:216360
Gabriele-De Vries Syndrome
Facial hypotonia, Posteriorly rotated ears, Tremor, Hypotonia, Low-set ears, Dystonia, Attention ... OMIM:617557
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Spastic tetraparesis, Dystonia ORPHA:404451
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Hyperactivity, Protruding ear, Gait disturbance, Macrotia, Abnormal repetitive... ORPHA:464306
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... ORPHA:544482
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Rigidity, Resting tremor, Postural tremor, Dystonia OMIM:619911
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Generalized dystonia, Dystonia, Spastic tetraparesis, Dysphagia, Failure to thrive OMIM:620358
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Small for gestational age, Failure to thrive in infancy, Hypotonia, Cerebral ... OMIM:618891
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivi... OMIM:618354
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... OMIM:615895
Phace Syndrome
Hypothyroidism, Optic nerve hypoplasia, Ectopic thyroid ORPHA:42775
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, He... ORPHA:391487
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Thyroid hypoplasia, Adrenal hypoplasia, Hearing impairment OMIM:308050
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Ataxia, Hypotonia, Dystonia OMIM:619167
Tetrasomy 9P
Absent gallbladder, Hyperactivity, Glue ear, Cryptorchidism, Abnormal earlobe morphology, Oligozo... ORPHA:3310
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... ORPHA:99867
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
Triosephosphate Isomerase Deficiency
Optic disc pallor, Tremor, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Spastici... OMIM:615512
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Hypotonia, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:607625
17Q24.2 Microdeletion Syndrome
Otosclerosis, Aggressive behavior, Microtia, Recurrent otitis media, Progressive conductive heari... ORPHA:529962
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Ataxia, Hypotonia, Low-set ears, Dystonia, Small earlobe, Failure to thrive OMIM:620083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammat... ORPHA:79259
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Aggressive behavior, Sensorineural hearing impairment, Cerebral atrophy, Choreoathetosis, Hyperto... ORPHA:17
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra... OMIM:607485
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... OMIM:229600
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... OMIM:618213
Legius Syndrome
Hyperactivity, Hypotonia, Vestibular schwannoma, Attention deficit hyperactivity disorder, Dyston... ORPHA:137605
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia, Cerebral cortical atrophy OMIM:277410
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cerebellar atrophy, Optic disc pallor, Facial hypotonia, Small for gestational age, Chorea, Optic... ORPHA:404454
Arboleda-Tham Syndrome
Dystonia, Posteriorly rotated ears, Anteverted ears, Abnormal repetitive mannerisms, Optic atroph... OMIM:616268
Mcleod Syndrome
Chorea, Impaired vibration sensation at ankles, Compulsive behaviors, Dystonia OMIM:300842
Stüve-Wiedemann Syndrome
Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid ORPHA:3206
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, Abnormal sal... ORPHA:79078
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, EEG abnormality, Attention deficit hyperactivity disorder, Decreased bod... OMIM:619005
Coffin-Siris Syndrome 12
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Sensorineural hearin... OMIM:619325
Developmental And Epileptic Encephalopathy 100
Axial hypotonia, Chorea, Hypotonia, Cerebral atrophy, EEG with photoparoxysmal response, Choreoat... OMIM:619777
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Developmental And Epileptic Encephalopathy 2
Inability to walk, EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhyt... OMIM:300672
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Abnormal repetitive manneri... ORPHA:508498
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Colitis, Intractable diarrhea, Depen... ORPHA:84064
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Cystinosis
Nephrogenic diabetes insipidus, Abnormal repetitive mannerisms, Delayed puberty, Type I diabetes ... ORPHA:213
Woodhouse-Sakati Syndrome
Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Dystonia, Hearing impairment OMIM:241080
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Posteriorly rotated ears, Facial palsy, Decreased response to growth hormone stimu... OMIM:615873
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... ORPHA:3261
1P36 Deletion Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidism, Sensorineura... ORPHA:1606
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Combined Oxidative Phosphorylation Deficiency 39
Cerebellar atrophy, Cerebral atrophy, Hypsarrhythmia, Dystonia, Spasticity OMIM:618397
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Joubert Syndrome 6
Abnormal repetitive mannerisms, Hypotonia, Ataxia OMIM:610688
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Dystonia, Rigidity, Dysphagia, Global brain atrophy OMIM:168601
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms, Hypotonia OMIM:617682
Adult-Onset Dystonia-Parkinsonism
Tremor, Rigidity, Dysphagia, Focal dystonia, Frontotemporal cerebral atrophy, Generalized cerebra... ORPHA:199351
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C... ORPHA:171
Pyruvate Carboxylase Deficiency
Ataxia, Anorexia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Compulsive behaviors, Recur... ORPHA:3008
Oculocerebrorenal Syndrome Of Lowe
Low-set, posteriorly rotated ears, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Protruding ... ORPHA:534
Aicardi-Goutieres Syndrome 1
Axial hypotonia, Cerebral atrophy, Dystonia, Spasticity, Self-mutilation OMIM:225750
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Hand tremor, Prominent antihelix, Hypertonia, Generalized hypotonia, Dystonia,... OMIM:618947
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... OMIM:301044
Combined Oxidative Phosphorylation Deficiency 12
Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Neonatal hypotonia, Failure to thrive OMIM:614924
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Hypotonia, Dystonia OMIM:614105
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Optic neuropathy, Tremor, Optic atrophy, Hypotonia, Generalized hypotonia, Dystonia, Neon... OMIM:610505
Primrose Syndrome
Restlessness, Calcification of the auricular cartilage, Elevated circulating alpha-fetoprotein co... OMIM:259050
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... ORPHA:906
Hypermanganesemia With Dystonia 1
Tremor, Dystonia, Rigidity, Spastic paraparesis OMIM:613280
Glycogen Storage Disease Ib
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... OMIM:232220
Pallister-Hall Syndrome
Low-set, posteriorly rotated ears, Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cr... ORPHA:672
Wolf-Hirschhorn Syndrome
Abnormal pinna morphology, Sensorineural hearing impairment, EEG abnormality, Conductive hearing ... OMIM:194190
Wiskott-Aldrich Syndrome
Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... OMIM:301000
Lipoid Proteinosis
Dysphagia, Dystonia ORPHA:530
Prader-Willi Syndrome Due To Translocation
Severe muscular hypotonia, Obesity, Head-banging, Attention deficit hyperactivity disorder, Compu... ORPHA:177907
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Protruding ear, Self-injurious behavior, Low-set ears, Abnormal... OMIM:612474
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Hydrocele testis, Microtia, Chordee, Low-s... OMIM:619522
Ataxia-Telangiectasia
Ataxia, Tremor, Choreoathetosis, Progressive cerebellar ataxia, Dysdiadochokinesis, Dystonia, Fai... OMIM:208900
Supranuclear Palsy, Progressive, 1
Axial dystonia, Tremor, Rigidity, Cerebral atrophy, Granulovacuolar degeneration, Dysphagia, Seni... OMIM:601104
Mercury Poisoning
Tremor, Anorexia, Dystonia ORPHA:330021
Glycogen Storage Disease Ic
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... OMIM:232240
Holoprosencephaly
Failure to thrive in infancy, External ear malformation, Chorea, Optic atrophy, Hypotonia, Abnorm... ORPHA:2162
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Optic atrophy, Dystonia, Spasticity OMIM:612199
Fumarase Deficiency
Necrotizing enterocolitis, Hepatic failure, High palate OMIM:606812
Aicardi-Goutières Syndrome
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Spastic tetraplegia, Hyperto... ORPHA:51
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,... OMIM:619573
Parkinson Disease 20, Early-Onset
Dystonia, Tremor, Rigidity, Dysphagia, Cerebral cortical atrophy OMIM:615530
Wilson Disease
Limb dystonia, Tremor, Rigidity, Decreased nerve conduction velocity, Hypoesthesia, Hand tremor, ... OMIM:277900
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,... OMIM:181000
Beta-Ureidopropionase Deficiency
Neonatal hypotonia, Hypsarrhythmia, Hypotonia, Dystonia OMIM:613161
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Ogden Syndrome
Cerebral atrophy, Protruding ear, Low-set ears, Dysphagia, Recurrent otitis media, Hyperbilirubin... OMIM:300855
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Ataxia, Tremor, Hypotonia, Dysphagia, Dysmetria, Truncal ataxia, Low-s... OMIM:220111
Gabriele-De Vries Syndrome
Facial hypotonia, Posteriorly rotated ears, Small for gestational age, Oral-pharyngeal dysphagia,... ORPHA:506358
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Encopresis, Feeding difficulties, Constipation, Gastroesop... OMIM:616682
Woodhouse-Sakati Syndrome
Choreoathetosis, Protruding ear, Bilateral sensorineural hearing impairment, Dystonia ORPHA:3464
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Rigidity, Truncal ataxia, Dysdiadochokinesis, Hypertonia, Dystonia, Spastic paraparesis, Action t... ORPHA:309854
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Axial hypotonia, Hypotonia, Opisthotonus, Hypertonia, Generalized hypotonia, Infantile axial hypo... ORPHA:508533
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Hypotonia, Cere... OMIM:615846
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Ataxia, Hypotonia, Distal sensory impairment, Painless fractures due to injur... OMIM:256810
Orofaciodigital Syndrome Type 1
Ataxia, Tremor, Dystonia, Chronic otitis media, Hearing impairment ORPHA:2750
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Congenital Horner syndrome, Decreased response to growth hormone stimulation test, Cryptorchidism... OMIM:619503
Proteus Syndrome
Macrotia, Low-set ears, Narrow internal auditory canal ORPHA:744
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Self-mutilation, Dystonia ORPHA:79233
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99413
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99226
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:881
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Cerebral atrophy, Dystonia ORPHA:1320
Mowat-Wilson Syndrome
Broad-based gait, Aganglionic megacolon, Posteriorly rotated ears, Uplifted earlobe, Impaired pai... ORPHA:2152
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Septate vagina,... ORPHA:261537
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B... OMIM:137920
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Posteriorly rotated ears, Aganglionic megacolon, Uplifted earlobe, Septate vagina,... ORPHA:261552
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Axial hypotonia, Brain atrophy, Dystonia OMIM:618278
Athyreosis
Thyroid agenesis, Hypothyroidism ORPHA:95713
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypotonia, Dystonia OMIM:618222
Lowe Oculocerebrorenal Syndrome
Cryptorchidism, Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dysphagia, Infantile muscular hypotonia, Dystoni... ORPHA:438213
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Limb dystonia, Cerebellar atrophy, Peripapillary atrophy, Dystonia, Spasticity, Facial paralysis OMIM:175780
Autosomal Recessive Cutis Laxa Type 1
Dystonia ORPHA:90349

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 Slc26a4

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 Slc26a4.

No publications found that use IMPC mice or data for Slc26a4.

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
Slc26a4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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