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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... OMIM:618013
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Pendred Syndrome
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... OMIM:274600
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... 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
Attention deficit hyperactivity disorder, Motor stereotypy, Feeding difficulties OMIM:617787
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Deafness, Autosomal Dominant 75
Abnormal cochlea morphology, Sensorineural hearing impairment OMIM:618778
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration OMIM:258700
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormal circ... ORPHA:2843
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Deafness, Autosomal Recessive 35
Abnormal ear morphology, Sensorineural hearing impairment OMIM:608565
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Pendred Syndrome
Hyperparathyroidism, Goiter, Vertigo, Thyroid carcinoma, Sensorineural hearing impairment, Enlarg... ORPHA:705
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Impaired pain sensation, Hand tremor, Sensorineural hearing impairment, Steppage gait, Impaired d... OMIM:300905
Deafness, Autosomal Recessive 2
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment OMIM:600060
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 67
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... OMIM:610265
Deafness, Autosomal Recessive 100
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Recessive 31
Absent vestibular function, Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 57
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment OMIM:618003
Deafness, Autosomal Recessive 89
Vestibular hypofunction, Sensorineural hearing impairment OMIM:613916
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 18B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614945
Auditory Neuropathy, Autosomal Dominant 2
Abnormal speech discrimination, Sensorineural hearing impairment OMIM:620384
Deafness, Autosomal Dominant 40
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 117
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619174
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 66
Abnormal vestibular function, Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 113
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Recessive 99
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 53
Abnormal vestibular function, Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 25
Abnormal vestibular function, Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 15
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... OMIM:601869
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 76
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Deafness, Autosomal Dominant 4B
Abnormal vestibular function, Sensorineural hearing impairment OMIM:614614
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
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
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Deafness, X-Linked 5, With Peripheral Neuropathy
Hearing impairment, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia, Distal se... OMIM:300614
Mohr-Tranebjaerg Syndrome
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Global ... ORPHA:52368
Dystonia 4, Torsion, Autosomal Dominant
Hemidystonia, Generalized dystonia, Slender build, Limb dystonia, Gait ataxia, Torticollis, Torsi... OMIM:128101
Deafness, Autosomal Recessive 37
Abnormal vestibular function, Sensorineural hearing impairment OMIM:607821
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Recurrent... OMIM:301101
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism, Hearing impairment OMIM:228355
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Usher Syndrome, Type I
Absent vestibular function, Sensorineural hearing impairment OMIM:276900
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
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 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Failure to thrive, Anorexia, Decreased body weig... ORPHA:99852
Usher Syndrome Type 1
Cerebral cortical atrophy, Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Sub... ORPHA:231169
Deafness-Infertility Syndrome
Abnormal vestibular function, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sp... OMIM:611102
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Dystonia 30
Arm dystonia, Leg dystonia, Diffuse cerebral atrophy, Aggressive behavior, Oromandibular dystonia... OMIM:619291
Usher Syndrome Type 3
Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, Ataxia ORPHA:231183
Autosomal Recessive Spastic Paraplegia Type 27
Abnormality of somatosensory evoked potentials, Dysdiadochokinesis, Impaired vibration sensation ... ORPHA:101007
Autosomal Recessive Spastic Paraplegia Type 24
Scissor gait, Tip-toe gait, Sensorineural hearing impairment ORPHA:101004
Worster-Drought Syndrome
Abnormal cranial nerve morphology, Sensorineural hearing impairment ORPHA:3465
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Autosomal Dominant Focal Dystonia, Dyt25 Type
Laryngeal dystonia, Limb dystonia, Axial dystonia, Craniofacial dystonia, Lingual dystonia, Torti... ORPHA:329466
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
EEG with parietal sharp waves, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Wr... ORPHA:163727
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 37
Sensorineural hearing impairment OMIM:618533
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 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, 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
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
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 Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
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
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 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 Recessive 51
Sensorineural hearing impairment OMIM:609941
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Elevated circulating creatine kinase concentration, Hearing impairment, Sensorineural hearing imp... OMIM:310490
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Hearing impairment, Sensorineural hearing impairment, Profound sensorineural hearing impairment, ... OMIM:619196
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility, Sensorineural hearing impairment OMIM:608653
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Hypotonia, Obesity, Limb dystonia, Tremor, Aggressive behavior, Hyperactivity... OMIM:620270
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Chromosome Xq21 Deletion Syndrome
Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea... OMIM:303110
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Dystonia With Cerebellar Atrophy
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Dysphagia, Progressive cerebell... OMIM:611694
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Periventricular heterotopia, Macroorchidism, po... OMIM:300624
Spinocerebellar Ataxia 31
Cerebellar atrophy, Limb ataxia, Gait ataxia, Sensorineural hearing impairment, Ataxia OMIM:117210
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Striatonigral Degeneration, Infantile
Optic atrophy, Spasticity, Failure to thrive, Dystonia, Dysphagia, Choreoathetosis OMIM:271930
Spastic Paraplegia 90A, Autosomal Dominant
Failure to thrive, Appendicular spasticity, Sensorineural hearing impairment, Spastic gait, Dysto... OMIM:620416
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Hearing impairment, Cochlear degeneration, Spinocerebellar atrophy, Mildly elevate... ORPHA:95433
7Q31 Microdeletion Syndrome
Low-set ears, Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Enlarge... ORPHA:251061
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Sensorineural hearing impairment, Ataxia, Dystonia, Dysphagia ORPHA:1171
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Somatic sensory dysfunction, Abnormal motor evoked potential... ORPHA:320401
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Deafness, Autosomal Recessive 121
Vestibular hypofunction, Sensorineural hearing impairment OMIM:620551
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Hearing impairment, Limb ... ORPHA:319199
Spastic Paraplegia 90B, Autosomal Recessive
Failure to thrive, Appendicular spasticity, Sensorineural hearing impairment, Dystonia, Dysphagia... OMIM:620417
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Cerebral cortical atrophy, Spasticity, Gait ataxia, Dysmetria, Spastic ataxia, Bilateral sensorin... ORPHA:314603
Leukodystrophy, Hypomyelinating, 14
Spasticity, Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Generalized hypotonia, Dyst... OMIM:617899
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal sensory im... OMIM:601382
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ... OMIM:274300
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Spasticity, Bruxism, Hypotonia, Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Hearing impairment, Progressive hearing impairment, Sensorineural hearing impairme... OMIM:614296
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Cogwheel rigidity, Decreased body weight, Attention deficit hyperactivity disorder, Hypertonia, S... OMIM:618284
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... ORPHA:52901
Deafness, X-Linked 2
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... OMIM:304400
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Spasticity, Gait ataxia, Rigidity, Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Multiple Mitochondrial Dysfunctions Syndrome 6
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Hearing impairment, Hypotonia, ... OMIM:617954
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... OMIM:609425
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Difficulty walking, Decreased nerve conduction velocity, Impaired vibration sensatio... ORPHA:352675
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy OMIM:617270
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Self-injurious behavior, Profound sensorineural hearing impairmen... OMIM:620469
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... ORPHA:100973
Dystonia 32
Laryngeal dystonia, Limb dystonia, Torticollis, Dysphagia, Brain atrophy OMIM:619637
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Lichtenstein-Knorr Syndrome
Vestibular hypofunction, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia,... OMIM:616291
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hype... OMIM:618718
Dystonia 25
Limb dystonia, Lingual dystonia, Torticollis, Laryngeal dystonia OMIM:615073
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb d... ORPHA:363710
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hearing impairment, Head... OMIM:613724
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... ORPHA:464440
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... OMIM:602588
Wolfram Syndrome 1
Optic atrophy, Hearing impairment, Sensorineural hearing impairment, Hypothyroidism, Testicular a... OMIM:222300
Dystonia 33
Spasticity, Limb dystonia, Axial dystonia, Dystonia, Axial hypotonia OMIM:619687
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Inflexible adherence to routines, Hypotonia, EEG abnormality, Truncal ataxi... OMIM:608636
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment OMIM:620009
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, EEG abnormality, Ataxia, Dystonia, ... OMIM:619150
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
Episodic Ataxia Type 4
Vertigo, Abnormal head movements, Ataxia ORPHA:79136
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Dis... OMIM:601455
Blepharonasofacial Malformation Syndrome
Torsion dystonia, Facial palsy OMIM:110050
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Dystonia 6, Torsion
Laryngeal dystonia, Limb dystonia, Lingual dystonia, Torticollis, Writer's cramp, Torsion dystoni... OMIM:602629
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Abnormal morphology of the vestibule of the inner ear, Sensori... OMIM:611584
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Megalencephalic Leukoencephalopathy With Subcortical Cysts 3
Spasticity, Limb ataxia, Rigidity, Lower limb spasticity, Dystonia, Dysphagia, Upper limb spasticity OMIM:620447
Autosomal Dominant Spastic Ataxia Type 1
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Spastic... ORPHA:251282
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Spasticity, Hypotonia, Tremor, Hypsarrhythmia, Hyperactivit... ORPHA:599373
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Generalized hypotonia, Hypsarrhythmia, Motor stereotypy, Spastic diplegia OMIM:617830
Thyrocerebrorenal Syndrome
Euthyroid goiter, Sensorineural hearing impairment ORPHA:3327
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Cerebral cortical atrophy, Spasticity, Hypotonia, EEG abnormality, Dysto... OMIM:617820
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Hypogonadism, Male
Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis OMIM:241100
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Hand tremor, Hypotonia, Gait ataxia, Recurrent han... OMIM:617862
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Deafness-Infertility Syndrome
Azoospermia, Male infertility, Sensorineural hearing impairment ORPHA:94064
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment ORPHA:1383
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Cerebral atrophy, Decreased nerve conduction velocity, Short-segment aganglio... OMIM:609136
Sandhoff Disease, Adult Form
Spasticity, Gait ataxia, Tremor, Focal dystonia, Dystonia, Dysphagia ORPHA:309169
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
Primary Dystonia, Dyt17 Type
Craniofacial dystonia, Generalized dystonia, Torticollis ORPHA:370103
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment ORPHA:1490
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Self-injurious behavior, Chorea, Stereotypical hand wringing, EEG abnormality, Dystonia, Axial hy... OMIM:618760
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Cerebral atrophy, Generalized hypotonia, Hypotonia, Obesity, Sensorineural hearing impairment, Lo... OMIM:616756
Hyperprolinemia, Type I
Generalized hypotonia, Hypotonia, Aggressive behavior, Hyperactivity, EEG abnormality, Ataxia, Mo... OMIM:239500
Dystonia 22, Adult-Onset
Upper limb postural tremor, Focal dystonia, Retrocollis, Torticollis OMIM:620456
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Conductive hearing impairment, Cerebral atrophy, Inability to walk, Bruxism, Stereotypical hand w... OMIM:618497
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Facial diplegia, Obsessive-compulsive trait, Testicular atrophy, Dy... OMIM:160900
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Leukodystrophy, Hypomyelinating, 18
Spasticity, Cerebellar atrophy, Failure to thrive, Decreased nerve conduction velocity, Abnormal ... OMIM:618404
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Violent behavior, Chorea, Limb dystonia, Tremor, Rigidity, Oromandibul... ORPHA:216873
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Generalized dystonia, Cerebellar vermis atrophy, Hypotonia, Lower limb spasti... OMIM:619389
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Cataract-Ataxia-Deafness Syndrome
Ataxia, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairment, Adult onse... ORPHA:1368
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Sensorineural hearing imp... OMIM:300475
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis, Sensorineural hearing impairment OMIM:600193
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Agitation, Tremor, Compulsive behaviors, Dystonia, Axial hypotonia OMIM:619651
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Arm dystonia, Undetectable visual evoked potentials, Hearing impairment, Progressi... OMIM:601338
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Falls, Hearing impairment, Difficulty walking, Distal sensory impairment, Sensorineural hearing i... OMIM:617882
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Gait ataxia, Tremor, Impaired tactile sensation, Ataxia, Overfol... OMIM:619092
Leukoencephalopathy, Cystic, Without Megalencephaly
Spasticity, Sensorineural hearing impairment, Ataxia, Dystonia, Athetosis OMIM:612951
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Spastic paraplegia, Dystonia, Laryngeal dystonia OMIM:619681
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Progressive cerebellar ataxia, Cerebral atrophy, Impaired vibration sensation in the lower limbs,... ORPHA:352641
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... ORPHA:382
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Familial Paroxysmal Ataxia
Vertigo, Cerebellar vermis atrophy, Tinnitus, Torticollis, Ataxia, Dystonia ORPHA:97
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Developmental And Epileptic Encephalopathy 107
Feeding difficulties in infancy, Motor stereotypy OMIM:620033
N-Acetylaspartate Deficiency
Generalized hypotonia, Self-mutilation, Decreased body weight, Truncal ataxia, Motor stereotypy OMIM:614063
Mepan Syndrome
Optic atrophy, Spasticity, Hemidystonia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy,... ORPHA:508093
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Abnormal semicircular canal morphology, Sensorineur... ORPHA:87
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Cupped ear, Conductive hearing impairment, Euthyroid goiter, I... OMIM:113650
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Somatic sensory dysfunction, Impaired pain ... ORPHA:101085
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Cerebellar atrophy, Hearing impairment, Failure to thrive, Generalized hypotonia, ... OMIM:618237
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Large earlobe, Decrease... OMIM:305400
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Hearing impairment, Distal sensory impairment, Sensorineural hearing impairment, G... OMIM:311070
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Developmental And Epileptic Encephalopathy 7
Dystonia, EEG with burst suppression, Hypotonia, Spastic tetraparesis OMIM:613720
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment OMIM:613076
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At... OMIM:617695
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis, Sensorineural hearing impairment OMIM:616460
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements OMIM:616939
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Dystonia, Spastic ataxia, Dysphagia OMIM:108600
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Hearing impairment, Reduced sperm motility OMIM:619436
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Hearing impairment, Hypotonia, Tremor, Dystonia, Progressive cerebellar ataxia ORPHA:139485
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Self-injurious behavior, Spasticity, Oculogyric crisis, Cerebellar atrophy, Cerebral atrophy, Bru... OMIM:614254
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea... OMIM:619947
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Dystonia, Sensory ataxia, Rigidity OMIM:619661
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hypotonia, Tremor, Aggressive behavior, Hyperactivity, Spastic tetraparesis, Motor... OMIM:619470
Paroxysmal Exertion-Induced Dyskinesia
Chorea, Paresthesia, Aggressive behavior, Lower limb spasticity, Ataxia, Torsion dystonia, Dyston... ORPHA:98811
Dystonia 23
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Limb dystonia, Axial dystonia, Tortic... OMIM:614860
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Christianson Syndrome
Cerebral cortical atrophy, Cerebellar atrophy, Inappropriate laughter, Gait ataxia, Dysphagia, Ne... ORPHA:85278
Leukoencephalopathy, Brain Calcifications, And Cysts
Dystonia, Spasticity, Tremor, Ataxia OMIM:614561
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Bruxism, Tremor, Self-mutilation, Ataxia, Bilateral sensorineura... OMIM:619422
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction
Spasticity, Cerebellar atrophy, Cerebral atrophy, Spastic tetraparesis, Dystonia OMIM:620515
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Progressive sensorineural hearing impairment, Distal sensory impairment, Sensorineural hearing im... OMIM:607736
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Hearing impairment, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Dyst... OMIM:617145
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Hyperalaninemia, Sensorineural hearing impairment ORPHA:2597
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Sensorineural hearing impairment, Severe muscular hypotonia,... OMIM:614932
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensorineural hearing impairment, Primary amenorrhea, Testicular atrophy, Premature ovarian insuf... OMIM:157640
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Abnormal head movements, EEG with spike-wave comple... ORPHA:139431
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... OMIM:617638
Intellectual Developmental Disorder, Autosomal Dominant 7
Cerebral cortical atrophy, Inappropriate laughter, Stereotypical hand wringing, Gait disturbance,... OMIM:614104
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Mitochondrial Complex I Deficiency, Nuclear Type 26
Cerebellar atrophy, Hearing impairment, Cerebral atrophy, Limb hypertonia, EEG abnormality, Dysto... OMIM:618247
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Charcot-Marie-Tooth Disease, Type 4K
Sensorineural hearing impairment, Dystonia, Hearing impairment, Ataxia OMIM:616684
Dystonia 11, Myoclonic
Hypotonia, Tremor, Addictive alcohol use, Torticollis, Writer's cramp, Compulsive behaviors OMIM:159900
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Spasticity, Cerebellar atrophy, Cerebral atrophy, Hypotonia, Positive Romberg sign, Dysmetria, Co... OMIM:618088
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Infertility, Immotile sperm OMIM:618449
Peroxisome Biogenesis Disorder 7B
Sensorineural hearing impairment OMIM:614873
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmet... OMIM:610185
Dystonia 17, Torsion, Autosomal Recessive
Focal dystonia, Torticollis OMIM:612406
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Aganglionic megacolon, White eyebrow, Wh... OMIM:600501
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Abnormality of the outer ear, Head-banging, Hearing impairmen... OMIM:182290
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lowe... OMIM:620453
Leukodystrophy, Hypomyelinating, 15
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Sensorineural... OMIM:617951
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Inability to walk, Hypsarrhythmia, Motor stereotypy, Macrotia OMIM:619877
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Hand tremor, Writer's cramp OMIM:608105
Episodic Ataxia, Type 9
Vertigo, Dystonia, Paroxysmal vertigo, Episodic ataxia OMIM:618924
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Feeding difficulties OMIM:616341
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal sensory impairment, Sensorineural hearing impai... OMIM:118300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Hypotonia, Motor stereotypy, Ataxia OMIM:618709
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Hypotonia, Ataxia, Dystonia OMIM:618276
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal choreoathetosis, Dysphagia, Paroxysmal dystonia, Torticollis OMIM:118800
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Soma... ORPHA:99950
47,Xyy Syndrome
Low-set ears, Varicocele, Male infertility, Azoospermia, Cryptorchidism, Attention deficit hypera... ORPHA:8
Dystonia 31
Arm dystonia, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writer's cramp, Dysphagia OMIM:619565
Leukodystrophy, Hypomyelinating, 13
Ataxia, Delayed brainstem auditory evoked response conduction time, Spasticity, Optic atrophy, Fa... OMIM:616881
Spinocerebellar Ataxia 14
Cerebellar atrophy, Gait ataxia, Dysmetria, Attention deficit hyperactivity disorder, Focal dysto... OMIM:605361
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Hypsarrhythmia, Spastic tetraplegia, Axial hypotonia OMIM:251280
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Acroparesthe... ORPHA:206443
Deafness, Autosomal Dominant 23
Conductive hearing impairment, Sensorineural hearing impairment OMIM:605192
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Caudate atrophy, Weight loss, Dystonia ORPHA:98934
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Torticollis, Ataxia, Dystonia, Axial hypotonia OMIM:618425
Huntington Disease-Like 1
Cerebral cortical atrophy, Cerebellar atrophy, Abnormal head movements, Chorea, Gait ataxia, Dysm... ORPHA:157941
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Generalized hypotonia, Failure to thri... OMIM:613670
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Congenital sensorineural hearing impairment, Abnormal... ORPHA:96148
Usher Syndrome, Type Iiia
Abnormal vestibular function, Sensorineural hearing impairment OMIM:276902
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Inappropriate behavior, Chorea, Tremor, Rigidity, Ataxia, Dystonia ORPHA:401901
Leukodystrophy, Hypomyelinating, 21
Optic atrophy, Cerebellar atrophy, Failure to thrive, Corpus callosum atrophy, Ataxia, Dystonia, ... OMIM:619310
Myoclonus-Dystonia Syndrome
Compulsive behaviors, Dystonia, Torticollis, Writer's cramp ORPHA:36899
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Stenosis of the external auditory can... ORPHA:107
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Dystonia, Failure to thrive, Spastic tetraparesis ORPHA:67046
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Dysphagia, Motor stereotypy, Macrotia DECIPHER:45
Gorham-Stout Disease
Abnormality of the internal auditory canal, Hearing impairment, Torticollis ORPHA:73
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Hypotonia, Tremor, Dysmetria, Lower limb spasticity, Ataxia... OMIM:617916
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Spasticity, Global brain atrophy, Episodic ataxia, Vertigo, Hypotonia, Gait ataxia, Lower limb sp... OMIM:614458
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Action tremor, Distal sensory impairment, Sensorineural hearing im... ORPHA:99027
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Hearing impairment, Cerebellar vermis ... OMIM:611390
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... ORPHA:1215
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Spasticity, Hippocampal atrophy, Aggressive behavior, Corpus callosum atrophy, Hyper... OMIM:301107
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Tip-toe gait, Hand tremor, Difficu... OMIM:302800
Hematuria, Benign Familial, 2
Sensorineural hearing impairment OMIM:620320
Peroxisomal Acyl-Coa Oxidase Deficiency
Low-set ears, Optic atrophy, Neonatal hypotonia, Hypotonia, Hypertonia, Bilateral sensorineural h... OMIM:264470
3-Methylglutaconic Aciduria, Type I
Optic atrophy, Spasticity, Failure to thrive, Cerebral atrophy, Self-mutilation, Ataxia, Dystonia... OMIM:250950
Lowe-Kohn-Cohen Syndrome
Sensorineural hearing impairment ORPHA:2408
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Spasticity, Impaired pain sensation, Cerebral atrophy, Chorea, Gait ataxia, Aggressive behavior, ... ORPHA:500180
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Tremor, Sensorineural hearing impairment, Protruding ear, Aggressive behav... OMIM:618342
Episodic Ataxia, Type 2
Abnormal vestibular function, Episodic ataxia, Vertigo, Cerebellar vermis atrophy, Paresthesia, T... OMIM:108500
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Cerebral atrophy, Tremor, Hyperactivity, Neuronal loss in central nervous system, Ata... OMIM:615924
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter ORPHA:319487
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Gait ataxia, S... OMIM:618917
Atypical Rett Syndrome
Restrictive behavior, Spasticity, Pill-rolling tremor, Neonatal hypotonia, Impaired pain sensatio... ORPHA:3095
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Infantile muscular hypotonia, Ataxia, Dystonia, Restlessness, Spastic tetraplegia ORPHA:263410
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy, Hemidystonia, Spastic gait, Severe temper tantrums, Spastic tetraparesis OMIM:619052
Syngap1-Related Developmental And Epileptic Encephalopathy
Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Tremor, Gait distu... ORPHA:544254
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... OMIM:300635
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Folinic Acid-Responsive Seizures
Optic atrophy, Frontotemporal cerebral atrophy, Cerebellar atrophy, Spastic tetraparesis, EEG wit... ORPHA:79097
Juvenile Huntington Disease
Cerebellar atrophy, Cerebellar vermis atrophy, Oral motor hypotonia, Chorea, Gait ataxia, Rigidit... ORPHA:248111
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... OMIM:613074
Spinocerebellar Ataxia 48
Cerebellar atrophy, Chorea, Gait ataxia, Tremor, Dysmetria, Cachexia, Ataxia, Dystonia, Dysphagia OMIM:618093
Developmental And Epileptic Encephalopathy 69
Cerebral cortical atrophy, Hypsarrhythmia, EEG abnormality, Corpus callosum atrophy, Dystonia, Sp... OMIM:618285
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Optic atrophy, Spasticity, Failure to thrive, Cogwheel rigidity, Gait ataxia, Rigidity, D... ORPHA:225154
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Colitis OMIM:617006
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Leber Congenital Amaurosis With Early-Onset Deafness
Peripapillary atrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment OMIM:617879
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Prominent ear helix, Large earlobe, Inability to walk, Hypsarrhythmia... ORPHA:411986
Crouzon Syndrome
Narrow internal auditory canal, Optic atrophy, Conductive hearing impairment, Hearing impairment ORPHA:207
Developmental And Epileptic Encephalopathy 67
Cerebellar atrophy, Recurrent hand flapping, Hypsarrhythmia, EEG abnormality, Dystonia, Athetosis OMIM:618141
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Torticollis, Writer'... OMIM:128230
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Bruxism, Agitation, ... OMIM:617435
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis... ORPHA:1435
Ogden Syndrome
Low-set ears, Shuffling gait, Abnormal head movements, Cerebral atrophy, Torticollis, Macrotia ORPHA:276432
Siddiqi Syndrome
Limb dystonia, Sensorineural hearing impairment OMIM:618635
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
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Abnormal exteroceptive sensation, Spasticity of facial... OMIM:205100
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Hearing impai... OMIM:615157
Raynaud-Claes Syndrome
Cerebral cortical atrophy, Cerebral atrophy, Generalized hypotonia, Hypotonia, Aggressive behavio... OMIM:300114
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Gait ataxia, Tremor, Torticollis, Ataxia, Dystonia, Axial hypotonia OMIM:607317
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Dystonia, ... OMIM:617807
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Resting tremor, Macrotia, EEG with generalized slow activity, Bruxism, Obesit... OMIM:300055
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... ORPHA:3000
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spasticity, Failure to thrive, Generalized hypotonia, Caudate atrophy, Dystonia, S... OMIM:618238
Primary Dystonia, Dyt21 Type
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Axial dystonia, Paroxysma... ORPHA:306734
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Baker-Gordon Syndrome
Self-injurious behavior, Neonatal hypotonia, EEG abnormality, Ataxia, Dystonia, Motor stereotypy,... OMIM:618218
Neurodevelopmental Disorder With Involuntary Movements
Self-injurious behavior, Spasticity, Cerebellar atrophy, Cerebral atrophy, Generalized hypotonia,... OMIM:617493
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Optic atrophy, Cerebellar atrophy, Neonatal hypotonia, Cerebral atrophy,... OMIM:619690
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Cerebral cortical atrophy, Inability to walk, Bruxism, Chorea, Paroxysma... OMIM:618004
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, C... OMIM:617672
Neurodevelopmental Disorder With Dystonia And Seizures
Self-injurious behavior, Cerebral cortical atrophy, Cerebellar atrophy, Hypotonia, Chorea, EEG wi... OMIM:619922
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Aggre... ORPHA:329284
Sulfite Oxidase Deficiency, Isolated
Ataxia, Generalized dystonia, Generalized hypotonia, Macrotia, Cerebral atrophy, Agitation, Infan... OMIM:272300
Pelizaeus-Merzbacher Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Hearing impairment, Failure to thrive in in... ORPHA:702
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia, Kinetic tremor ORPHA:101109
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Generalized hypotonia, Limb dystonia, Gait ataxia, Craniofaci... ORPHA:71517
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Hearing impairment, Generalized hypotonia, Hypotonia, Atrophy/Degeneration affecting ... OMIM:616277
Autosomal Recessive Spastic Paraplegia Type 56
Spastic gait, Spastic paraplegia, Dystonia ORPHA:320411
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Cerebral atrophy, Generalized hypotonia, Hypotonia, Recurrent hand flapp... OMIM:617268
Pelizaeus-Merzbacher Disease
Ataxia, Spastic paraplegia, Optic atrophy, Global brain atrophy, Failure to thrive, Generalized d... OMIM:312080
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Cerebral cortical atrophy, Global brain atrophy, Bilateral conductive hearing impai... OMIM:617802
Neuropathy, Hereditary Sensory, Type Ie
Hearing impairment, Cerebral atrophy, Sensorineural hearing impairment, Ataxia, Impulsivity OMIM:614116
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Corneal Dystrophy And Perceptive Deafness
Sensorineural hearing impairment OMIM:217400
Striatonigral Degeneration, Childhood-Onset
Hypotonia, Craniofacial dystonia, Hypertonia, Dystonia, Dysphagia OMIM:617054
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, EEG with burst suppression, Chorea, Hypsarrhythmia, Dystonia, Athetosis OMIM:615473
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Spinocerebellar Ataxia 17
Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Rigidity,... OMIM:607136
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Mohr-Tranebjaerg Syndrome
Spasticity, Progressive sensorineural hearing impairment, Tremor, Postlingual sensorineural heari... OMIM:304700
Optic Atrophy 11
Optic atrophy, Hearing impairment, EEG with focal sharp waves, Stereotypical body rocking, Facial... OMIM:617302
Autosomal Recessive Spastic Paraplegia Type 46
Hearing impairment, Infertility, Decreased testicular size, Abnormal sperm head morphology, Reduc... ORPHA:320391
Episodic Kinesigenic Dyskinesia 3
Dystonia, Choreoathetosis, Torticollis OMIM:620245
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Goiter ORPHA:97290
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... ORPHA:95427
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona... OMIM:308750
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Attention deficit hyperactivity disorder, Recurrent hand flapping, Compulsive behav... OMIM:620021
Usher Syndrome, Type Iv
Abnormal vestibular function, Bone spicule pigmentation of the retina, Progressive sensorineural ... OMIM:618144
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebellar atrophy, Optic atrophy, EEG with irregular generalized spike and wave complexe... ORPHA:352596
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Cowden Syndrome 5
Thyroid adenoma, Hearing impairment, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydro... OMIM:615108
Dystonia-Deafness Syndrome 1
Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Sensorineural hear... OMIM:607371
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Cerebellar atrophy, Dysmetria, Sensorineural hearing impairment, Ataxia, Dysphagia OMIM:618098
Leukodystrophy, Hypomyelinating, 16
Failure to thrive, Hypotonia, Gait ataxia, Intention tremor, Dysmetria, Hypertonia, Optic disc pa... OMIM:617964
Deafness, Autosomal Recessive 77
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment