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
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... OMIM:274600
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Sensorineural hearing impairment, Somatic sensory dysfunction, Hand tremor, Steppage gait OMIM:300905
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level, Abnorma... ORPHA:2843
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Feeding difficulties OMIM:617787
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment, Abnormal ear morphology OMIM:608565
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Autosomal Recessive Spastic Paraplegia Type 24
Sensorineural hearing impairment, Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus ORPHA:101004
Cerebellar Ataxia And Neurosensory Deafness
Sensorineural hearing impairment, Ataxia OMIM:212850
Pendred Syndrome
Sensorineural hearing impairment, Thyroid carcinoma, Hypoplasia of the cochlea, Hypothyroidism, E... ORPHA:705
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 2
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction OMIM:600060
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Impaired vibration sensation at ankles, Dysdiadochokinesis, Bab... ORPHA:101007
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Vestibular dysfunction OMIM:600974
Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts
Sensorineural hearing impairment, Lower limb spasticity, Babinski sign, Clonus ORPHA:139444
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
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
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Mohr-Tranebjaerg Syndrome
Inability to walk, Babinski sign, Optic atrophy, Tremor, Abnormality of somatosensory evoked pote... ORPHA:52368
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Atrophy/Degeneration affecting the brainstem, S... ORPHA:99852
Arthrogryposis, Distal, Type 6
Sensorineural hearing impairment OMIM:108200
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Sensorineural hearing impairment, Hearing impairment, Elevated circulating creatine kinase concen... OMIM:310490
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Sensorineural hearing impairment, Optic atrophy, Ataxia OMIM:136600
Deafness, Autosomal Recessive 37
Sensorineural hearing impairment, Vestibular dysfunction OMIM:607821
Fetal Iodine Deficiency Disorder
Hearing impairment, Congenital hypothyroidism, Congenital goiter OMIM:228355
Ectodermal Dysplasia And Neurosensory Deafness
Sensorineural hearing impairment OMIM:224800
Worster-Drought Syndrome
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Tetraplegia ORPHA:3465
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Sensorineural hearing impairment, Ataxia, Abnormal pyramidal sign, Profound sensorineural hearing... OMIM:619196
Deafness, Autosomal Recessive 119
Sensorineural hearing impairment OMIM:619615
Deafness, Autosomal Dominant 20
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Abn... ORPHA:231169
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:221745
Autosomal Dominant Focal Dystonia, Dyt25 Type
Torticollis, Lingual dystonia, Axial dystonia, Laryngeal dystonia, Craniofacial dystonia, Limb dy... ORPHA:329466
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive 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
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Spinocerebellar atrophy, Elevated alpha-fetoprotein, Head tremor, ... ORPHA:95433
Intellectual Developmental Disorder, Autosomal Recessive 50
Sensorineural hearing impairment OMIM:616460
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Slender build, Hemidystonia, Gait ataxia, Limb dystonia, Torsion dystonia, Generaliz... OMIM:128101
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait distu... ORPHA:2815
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
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 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, Mental Retardation, 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 Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
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 Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Prolonged somatosensory evoked potentials, EEG with parietal focal spike waves, Writer's cramp, E... ORPHA:163727
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Autosomal Recessive Spastic Paraplegia Type 53
Failure to thrive, Impaired vibratory sensation, Abnormality of the auditory canal, Hearing impai... ORPHA:319199
Spinocerebellar Ataxia 31
Sensorineural hearing impairment, Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy OMIM:117210
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Usher Syndrome, Type I
Sensorineural hearing impairment, Absent vestibular function OMIM:276900
Ataxia, Deafness, And Cardiomyopathy
Sensorineural hearing impairment, Ataxia OMIM:208750
Spinocerebellar Ataxia Type 37
Sensorineural hearing impairment, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Myoclonu... ORPHA:363710
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment ORPHA:294
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
Spastic Ataxia 3, Autosomal Recessive
Cerebral cortical atrophy, Dysmetria, Mild hearing impairment, Gait ataxia, Spasticity, Cerebella... OMIM:611390
Leukodystrophy, Hypomyelinating, 14
Cerebral atrophy, Generalized hypotonia, Spasticity, Cerebellar atrophy, Hearing impairment, Dyst... OMIM:617899
Gemignani Syndrome
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Impaired pain sensation ORPHA:2074
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Spastic dysarthria, Gait ata... ORPHA:314603
Dystonia 33
Axial dystonia, Babinski sign, Spasticity, Limb dystonia, Dystonia, Axial hypotonia OMIM:619687
X-Linked Charcot-Marie-Tooth Disease Type 6
Sensorineural hearing impairment, Decreased nerve conduction velocity, Hand tremor, Impaired vibr... ORPHA:352675
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Multiple Mitochondrial Dysfunctions Syndrome 6
Failure to thrive, Ataxia, Dysmetria, Generalized hypotonia, Optic disc pallor, Spasticity, Cereb... OMIM:617954
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... ORPHA:2589
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Nathalie Syndrome
Sensorineural hearing impairment ORPHA:2663
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Dystonia 6, Torsion
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... OMIM:602629
Striatonigral Degeneration, Infantile
Failure to thrive, Optic atrophy, Choreoathetosis, Spasticity, Dystonia OMIM:271930
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Progressive hearing impairment, Dystonia OMIM:616113
Dystonia 30
Torticollis, Oromandibular dystonia, Leg dystonia, Diffuse cerebral atrophy, Writer's cramp, Dyst... OMIM:619291
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Neurodegeneration With Brain Iron Accumulation
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Optic atrophy, Spasticity, Cerebe... ORPHA:385
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... OMIM:270500
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy
Sensorineural hearing impairment, Spastic tetraparesis, Brain atrophy, Cerebellar atrophy OMIM:618741
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Dystonia 25
Torticollis, Lingual dystonia, Laryngeal dystonia, Limb dystonia OMIM:615073
Dystonia With Cerebellar Atrophy
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia OMIM:611694
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... ORPHA:251282
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Episodic Ataxia Type 4
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo ORPHA:79136
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Sensorineural hearing impairment, Optic atrophy, Ataxia, Dystonia ORPHA:1171
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Tremor... OMIM:614561
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Involuntary movements, Spasticit... OMIM:617282
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping, Macroorchidism, postpubertal, Congenital ma... OMIM:300624
Leukodystrophy, Hypomyelinating, 6
Ataxia, Rigidity, Optic atrophy, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Hearing... OMIM:612438
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Wolfram-Like Syndrome, Autosomal Dominant
Sensorineural hearing impairment, Progressive hearing impairment, Optic atrophy, Optic disc pallo... OMIM:614296
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Cataract-Ataxia-Deafness Syndrome
Sensorineural hearing impairment, Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor... ORPHA:1368
Fg Syndrome 4
Sensorineural hearing impairment OMIM:300422
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensorineural hearing impairment, Testicular atrophy, Parkinsonism with favorable response to dop... OMIM:157640
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia OMIM:615889
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia, Ataxia OMIM:613909
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Sensorineural hearing impairment, Progressive cerebellar ataxia, Cerebral atrophy, Impaired vibra... ORPHA:352641
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Cerebral cortical atrophy, Myoclonus, Optic atrophy, Spasticity, Hypsarrhythmia, Hearing impairme... OMIM:617669
Wolfram Syndrome 1
Sensorineural hearing impairment, Testicular atrophy, Ataxia, Hypothyroidism, Tremor, Optic atrop... OMIM:222300
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, H... OMIM:274300
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Hy... ORPHA:139485
Huntington Disease-Like 2
Cerebral cortical atrophy, Parkinsonism, Chorea, Involuntary movements, Weight loss, Caudate atro... ORPHA:98934
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment ORPHA:71289
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... OMIM:125250
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Blepharonasofacial Malformation Syndrome
Facial palsy, Torsion dystonia OMIM:110050
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Ataxia, Reduced sperm motility, Abnormal sperm head morphology, Babinski sign, Trunc... ORPHA:320391
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment OMIM:620009
Steel Syndrome
Sensorineural hearing impairment OMIM:615155
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Low-set ears, Testicular atrophy OMIM:601163
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Sensorineural hearing impairment, Ataxia, Babinski sign, Distal sensory impairment, Gait disturba... OMIM:617882
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Craniofacial dystonia ORPHA:370103
Fetal Iodine Syndrome
Sensorineural hearing impairment, Spastic diplegia, Hemiplegia/hemiparesis ORPHA:1910
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Generalized hypotonia, Atrophy/Degeneration ... OMIM:617862
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Testicular atrophy, Fasciculations, Decreased fertility OMIM:313200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... OMIM:615157
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Palmoplantar Keratoderma-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2202
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... OMIM:128230
Leukodystrophy, Hypomyelinating, 18
Failure to thrive, Decreased nerve conduction velocity, Dysmetria, Babinski sign, Atrophy/Degener... OMIM:618404
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Goiter OMIM:274240
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Spastic Paraplegia-Nephritis-Deafness Syndrome
Sensorineural hearing impairment, Paraplegia, Spasticity, Gait disturbance ORPHA:2820
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Sensorineural hearing impairment, Ataxia, Increased serum pyruvate, Myoclonus, Spasticity OMIM:545000
Dystonia 23
Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, C... OMIM:614860
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Familial Paroxysmal Ataxia
Torticollis, Hemiplegia, Ataxia, Cerebellar vermis atrophy, Tinnitus, Vertigo, Dystonia ORPHA:97
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Limb ataxia, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait ataxia,... OMIM:617145
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Generalized hypotonia, Optic atrophy, Hypsarrhythmia OMIM:617830
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... ORPHA:98810
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... OMIM:619092
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Inability to walk, Brain atrophy, Tremor, Spasticity, Low-set ... OMIM:618718
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter ORPHA:3327
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Rare Non-Syndromic Intellectual Disability
Cerebral atrophy, Generalized hypotonia, Spasticity, Hearing impairment, Dystonia ORPHA:101685
Progressive Myoclonic Epilepsy With Dystonia
Hemiplegia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, Myoclonus, ... ORPHA:352596
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment OMIM:238340
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Sensorineural hearing impairment, Ataxia, Cerebral atrophy, Generalized hypotonia, Hypotonia, Obe... OMIM:616756
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Deafness, Dystonia, And Cerebral Hypomyelination
Sensorineural hearing impairment, Failure to thrive, Cerebral atrophy, Abnormal pyramidal sign, O... OMIM:300475
Leukoencephalopathy, Cystic, Without Megalencephaly
Sensorineural hearing impairment, Ataxia, Athetosis, Spasticity, Dystonia OMIM:612951
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Spastic paraplegia, Dystonia, Laryngeal dystonia OMIM:619681
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment ORPHA:2690
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia, Dyst... OMIM:619150
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Merrf
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:551
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia OMIM:608105
Dystonia 32
Torticollis, Laryngeal dystonia, Brain atrophy, Limb dystonia OMIM:619637
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Abnormal audito... OMIM:601455
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Sensorineural hearing impairment, Arm dystonia, Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, ... OMIM:601338
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language
Ataxia, Cerebral atrophy, Generalized hypotonia, Chorea, Involuntary movements, Cerebellar atroph... OMIM:617804
Spinocerebellar Ataxia, Autosomal Recessive 29
Ataxia, Cerebellar vermis atrophy, Corpus callosum atrophy, Optic disc pallor, Cerebellar atrophy... OMIM:619389
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Developmental And Epileptic Encephalopathy 38
Hypertonia, Ataxia, Generalized hypotonia, Dystonia OMIM:617020
Developmental And Epileptic Encephalopathy 69
Cerebral cortical atrophy, EEG abnormality, Myoclonus, Corpus callosum atrophy, Hyperkinetic move... OMIM:618285
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment ORPHA:1490
Cataract-Deafness-Hypogonadism Syndrome
Sensorineural hearing impairment ORPHA:1383
Spastic Paraplegia 81, Autosomal Recessive
Sensorineural hearing impairment, Inability to walk, Ankle clonus, Babinski sign, Optic atrophy, ... OMIM:618768
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... OMIM:607317
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa... OMIM:601596
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Sensorineural hearing impairment, Inability to walk by childhood/adolescence, Poor fine motor coo... ORPHA:99947
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Huntington Disease-Like 1
Cerebral cortical atrophy, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, EEG... ORPHA:157941
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Rigidity, Parkinsonism, Chorea, Opti... ORPHA:216873
Developmental And Epileptic Encephalopathy 16
Severe muscular hypotonia, Cerebral atrophy, Abnormality of extrapyramidal motor function, Myoclo... OMIM:615338
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Hearing impairment, Goiter OMIM:617577
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... OMIM:617695
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Paroxysmal Exertion-Induced Dyskinesia
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... ORPHA:98811
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Chorea, Anterior uveitis, Ileal ulcer OMIM:616744
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Azoospermia, Male infertility ORPHA:94064
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Cerebral cortical atrophy, EEG abnormality, Involuntary movements, Spasticity, ... OMIM:617820
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Spastic Paraplegia 44, Autosomal Recessive
Sensorineural hearing impairment, Upper limb spasticity, Dysmetria, Intention tremor, Babinski si... OMIM:613206
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Cerebral atrophy, Generalized hypotonia, Spasticity OMIM:617393
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
EEG abnormality, Severe muscular hypotonia, Cerebral atrophy, Oculogyric crisis, Myoclonus, Hyper... OMIM:614254
Intellectual Developmental Disorder, Autosomal Recessive 67
Sensorineural hearing impairment, Posteriorly rotated ears OMIM:618295
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment OMIM:268010
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... ORPHA:99027
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Sensorineural hearing impairment, Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequ... ORPHA:2590
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... ORPHA:95716
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Cerebral atrophy, EEG with focal epileptiform discharges, Generalized hypotonia... ORPHA:88616
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Sensory ataxia, Dystonia OMIM:619661
Spastic Paraplegia, Ataxia, And Mental Retardation
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... OMIM:607565
Charcot-Marie-Tooth Disease Type 4D
Sensorineural hearing impairment, Inability to walk, Decreased motor nerve conduction velocity, D... ORPHA:99950
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Charcot-Marie-Tooth Disease, Type 4K
Sensorineural hearing impairment, Hearing impairment, Dystonia, Ataxia OMIM:616684
Leukodystrophy, Hypomyelinating, 21
Failure to thrive, Ataxia, Corpus callosum atrophy, Athetosis, Optic atrophy, Tetraparesis, Cereb... OMIM:619310
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Failure to thrive, Ataxia, Tetraparesis, Spasticity, Cerebellar atrophy, Hypotonia, Dystonia, Ton... OMIM:618276
Developmental And Epileptic Encephalopathy 107
Feeding difficulties in infancy, Motor stereotypy OMIM:620033
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Generalized hypotonia, Truncal ataxia OMIM:614063
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Sensorineural hearing impairment, Hyperalaninemia ORPHA:2597
Combined Oxidative Phosphorylation Deficiency 13
Sensorineural hearing impairment, Severe muscular hypotonia, Decreased nerve conduction velocity,... OMIM:614932
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Cerebral atrophy, Abnormal autonomic nervous system physiology, Spastic paraparesis... OMIM:300894
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Sensorineural hearing impairment, Paraparesis, Dysmetria, Hand tremor, Axonal degeneration, Tip-t... OMIM:302800
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Cerebral cortical atrophy, Decreased body weight, Cerebral atrophy, Abnormality of extrap... OMIM:617672
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... ORPHA:101085
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Sensorineural hearing impairment, Distal sensory impairment, Optic atrophy, Gait disturbance, Hea... OMIM:311070
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Liberfarb Syndrome
Sensorineural hearing impairment, Bone spicule pigmentation of the retina, Optic disc pallor, Ret... OMIM:618889
Mitochondrial Complex I Deficiency, Nuclear Type 26
EEG abnormality, Cerebral atrophy, Limb hypertonia, Choreoathetosis, Cerebellar atrophy, Hearing ... OMIM:618247
Mitochondrial Complex I Deficiency, Nuclear Type 15
Failure to thrive, Generalized hypotonia, Optic atrophy, Spastic tetraplegia, Cerebellar atrophy,... OMIM:618237
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Rigidity, Head tremor, Parkinsonism, Kinetic tremor, Gait ataxia, Spa... ORPHA:101109
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment, White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Gabriele-De Vries Syndrome
Tremor, Abnormal pinna morphology, Posteriorly rotated ears, Dystonia OMIM:617557
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Hemidystonia-Hemiatrophy Syndrome
Abnormal pyramidal sign, Babinski sign, Hemiparesis, Limb dystonia, Dystonia ORPHA:306741
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... OMIM:615924
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment OMIM:613076
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... OMIM:113650
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
EEG abnormality, Stereotypical hand wringing, Chorea, Dystonia, Axial hypotonia OMIM:618760
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Combined Oxidative Phosphorylation Deficiency 39
Dystonia, Involuntary movements, Spasticity, Hypsarrhythmia OMIM:618397
Apert Syndrome
Optic atrophy, Conductive hearing impairment, Sensorineural hearing impairment, Morphological abn... ORPHA:87
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia OMIM:125370
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk, Hypsarrhythmia, Macrotia, Hearing impairment OMIM:619877
Spastic Paraplegia 5A, Autosomal Recessive
Sensorineural hearing impairment, Upper limb spasticity, Impaired vibration sensation in the lowe... OMIM:270800
Familial Infantile Bilateral Striatal Necrosis
Hypertonia, Ataxia, Failure to thrive, Infantile muscular hypotonia, Atrophy/Degeneration involvi... ORPHA:225154
Waardenburg Syndrome, Type 2F
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... OMIM:619947
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Failure to thrive, Infantile muscular hypotonia, Cerebral atrophy, Stereotypical hand wringing, S... ORPHA:500545
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Episodic Ataxia, Type 9
Vertigo, Dystonia, Paroxysmal vertigo, Episodic ataxia OMIM:618924
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
X-Linked Spinocerebellar Ataxia Type 3
Sensorineural hearing impairment, Optic atrophy, Ataxia ORPHA:85297
Intellectual Developmental Disorder, X-Linked 29
Sensorineural hearing impairment, Babinski sign OMIM:300419
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Sensorineural hearing impairment, Failure to thrive, Cerebral atrophy, Generaliz... OMIM:612073
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Leydig cell insensitivity... OMIM:308700
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Caribbean Parkinsonism
Cerebral cortical atrophy, Action tremor, Bradykinesia, Abnormal autonomic nervous system physiol... ORPHA:97355
Snijders Blok-Campeau Syndrome
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait, Low-set ears OMIM:618205
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism... ORPHA:521406
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Autosomal Recessive Spastic Paraplegia Type 56
Spastic paraplegia, Spastic gait, Babinski sign, Dystonia ORPHA:320411
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Ataxia, Intention tremor, Dystonia, Truncal ataxia, Gait ataxia, Spasticity, Hypotonia, Vertigo, ... OMIM:614458
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Sensorineural hearing impairment, Facial palsy OMIM:609283
Cardiomyopathy, Dilated, 1J
Sensorineural hearing impairment OMIM:605362
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Parkinsonism-Dystonia 2, Infantile-Onset
Ataxia, Abnormal autonomic nervous system physiology, Dysdiadochokinesis, Oculogyric crisis, Park... OMIM:618049
Peroxisome Biogenesis Disorder 7B
Sensorineural hearing impairment OMIM:614873
Spinocerebellar Ataxia Type 17
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... ORPHA:98759
Leukodystrophy, Hypomyelinating, 15
Sensorineural hearing impairment, Failure to thrive, Ataxia, Cerebral atrophy, Intention tremor, ... OMIM:617951
Ciliary Dyskinesia, Primary, 46
Hearing impairment, Reduced sperm motility, Recurrent otitis media OMIM:619436
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Bradykinesia, Hemidystonia, Abnormal pyramidal sign, Optic atrophy, Spastic tetraparesis, Spastic... OMIM:619052
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Abnormality of ext... OMIM:260300
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Pigmentary retinopathy, Optic disc drusen, Hyperthreoninemia, E... OMIM:204000
Spastic Paraplegia 87, Autosomal Recessive
Upper limb spasticity, Babinski sign, Spastic gait, Lower limb spasticity, Dystonia OMIM:619966
Paroxysmal Kinesigenic Dyskinesia
Chorea, Athetosis, Writer's cramp, Involuntary movements, Dystonia ORPHA:98809
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone OMIM:188570
Myoclonus-Dystonia Syndrome
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia ORPHA:36899
Abcd Syndrome
Albinism, White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Total intestinal a... OMIM:600501
Distal Monosomy 10Q
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... ORPHA:96148
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... ORPHA:79263
Branchiogenic Deafness Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:50815
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Feeding difficulties OMIM:616341
Gorham-Stout Disease
Torticollis, Hearing impairment, Abnormality of the internal auditory canal ORPHA:73
Ataxia-Deafness-Intellectual Disability Syndrome
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Decreased nerve conduction v... ORPHA:1188
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, EEG abnormality, Acroparesthesia, Hoffmann sign... ORPHA:206448
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Frequen... OMIM:619054
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, EEG abnormality, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, C... ORPHA:71277
2,4-Dienoyl-Coa Reductase Deficiency
Failure to thrive, Neonatal hypotonia, Cerebral atrophy, Choreoathetosis, Spasticity, Hypotonia, ... OMIM:616034
Developmental And Epileptic Encephalopathy 7
Spastic tetraparesis, Generalized hypotonia, Dystonia, Hypotonia OMIM:613720
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Dystonia, Axial hypotonia OMIM:619651
Episodic Ataxia, Type 2
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Tinnitus, Vestibular dysfunction, Pares... OMIM:108500
Glut1 Deficiency Syndrome 1
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Para... OMIM:606777
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Macrotia, Anteverte... ORPHA:544254
Developmental And Epileptic Encephalopathy 17
Cerebral atrophy, Chorea, Athetosis, Hypsarrhythmia, Dystonia OMIM:615473
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Neonatal hypotonia, EEG abnormality, Hyperkinetic movements, Choreoathe... OMIM:618218
Striatonigral Degeneration, Childhood-Onset
Hypertonia, Dystonia, Craniofacial dystonia OMIM:617054
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Charcot-Marie-Tooth Disease And Deafness
Sensorineural hearing impairment, Decreased motor nerve conduction velocity, Distal sensory impai... OMIM:118300
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... ORPHA:1435
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Macrotia OMIM:615541
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Progressive cerebellar ataxia, Action tremor, Dysmetria, Axial dystoni... OMIM:604326
Juvenile Huntington Disease
Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidi... ORPHA:248111
Folinic Acid-Responsive Seizures
Sensorineural hearing impairment, Hypertonia, Ataxia, Chorea, Optic atrophy, Cerebellar atrophy, ... ORPHA:79097
Infantile Convulsions And Choreoathetosis
Chorea, Athetosis, Normal interictal EEG, Choreoathetosis, Involuntary movements, Paroxysmal dysk... ORPHA:31709
Christianson Syndrome
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Truncal ata... ORPHA:85278
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... ORPHA:382
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Progressive cerebellar ataxia, Dysmetria, Vestibular areflexia,... ORPHA:504476
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... OMIM:617807
Peroxisomal Acyl-Coa Oxidase Deficiency
Hypertonia, Neonatal hypotonia, Babinski sign, Optic atrophy, Low-set ears, Dystonia, Bilateral s... OMIM:264470
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
EEG abnormality, Babinski sign, Chorea, Choreoathetosis, Spasticity, Low-set ears, Dystonia OMIM:618451
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Neurodegeneration, Atrophy/De... OMIM:612319
Alternating Hemiplegia Of Childhood 2
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:614820
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Ch... OMIM:300055
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... OMIM:618500
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent otitis media OMIM:618449
Huntington Disease-Like 3
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... ORPHA:157946
Dystonia 31
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Arm dystonia, Generalized dyst... OMIM:619565
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... OMIM:618093
Developmental And Epileptic Encephalopathy 27
Myoclonus, Chorea, Spasticity, Hypsarrhythmia, Hypotonia, Dystonia, Axial hypotonia OMIM:616139
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Deafness, Autosomal Dominant 23
Sensorineural hearing impairment, Conductive hearing impairment OMIM:605192
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Ataxia, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotrop... OMIM:308750
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Inability to walk, Myoclonus, Hypsarrhythmi... ORPHA:411986
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Sensorineural hearing impairment ORPHA:2866
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Spastic paraplegia, Babinski sign, Dystonia OMIM:615030
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Leukodystrophy, Hypomyelinating, 16
Hypertonia, Failure to thrive, Dysmetria, Intention tremor, Abnormal pyramidal sign, Optic disc p... OMIM:617964
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality, Generalized hypotonia, Hypotonia OMIM:239500
Aarskog-Scott Syndrome
Large earlobe, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, El... OMIM:305400
Peroxisome Biogenesis Disorder 5B
Sensorineural hearing impairment, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait, O... OMIM:614867
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Frequent falls, Tremor, Dystonia, Axial hypotonia OMIM:619647
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Spastic Ataxia 1, Autosomal Dominant
Spastic paraplegia, Dystonia, Spastic ataxia OMIM:108600
Mitochondrial Myopathy With Lactic Acidosis
Dysmetria, Generalized hypotonia, Hemiparesis, Moderate sensorineural hearing impairment, Spastic... OMIM:251950
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Vestibular dysfunction OMIM:276902
Leigh Syndrome With Leukodystrophy
Failure to thrive, Progressive cerebellar ataxia, Optic atrophy, Progressive spastic paraplegia, ... ORPHA:255241
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Abnormal pinna morphology, Ataxia, Cerebral cortical atrophy, Stereotypical han... OMIM:614104
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Sensorineural hearing impairment, Tremor, Premature graying of hair, Heterochromia iridis ORPHA:66633
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Clumsiness, Impaired vibratory s... OMIM:610738
Dystonia 15, Myoclonic
Writer's cramp, Myoclonus, Dystonia OMIM:607488
Xq28 (MECP2) duplication
Motor stereotypy, Inability to walk, Progressive spasticity, Gait ataxia, Macrotia DECIPHER:45
Developmental And Epileptic Encephalopathy 92
Ataxia, EEG abnormality, Myoclonus, Spasticity, Dystonia OMIM:617829
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Dystonia, Spastic tetraplegia, Axial hypotonia OMIM:251280
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... OMIM:261640
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Brain atrophy, Generalized hypotonia, Atrophy/Degeneration affecting the brainstem, Spasticity, H... OMIM:616277
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Gene... ORPHA:98756
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Rig... OMIM:613135
Mitochondrial Complex I Deficiency, Nuclear Type 16
Failure to thrive, Generalized hypotonia, Optic atrophy, Choreoathetosis, Spasticity, Spastic tet... OMIM:618238
Spinocerebellar Ataxia Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormal pyramidal sign, Vocal cord paralysis, Vestibu... ORPHA:98757
Spinocerebellar Ataxia 17
Neuronal loss in central nervous system, Ataxia, Bradykinesia, Limb ataxia, Dysmetria, Intention ... OMIM:607136
Lowe-Kohn-Cohen Syndrome
Sensorineural hearing impairment ORPHA:2408
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Episodic hemiplegia, Choreoathetosis, Dystonia, Tetraplegia OMIM:104290
Gingival Fibromatosis-Progressive Deafness Syndrome
Sensorineural hearing impairment ORPHA:2027
Primary Dystonia, Dyt21 Type
Torticollis, Axial dystonia, Blepharospasm, Laryngeal dystonia, Limb dystonia, Focal dystonia, Dy... ORPHA:306734
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Abnormality of extrapyramidal motor function, Generalized hypotonia, Athetosis, Hypotonia... OMIM:615159
Ogden Syndrome
Torticollis, Hypertonia, Cerebral atrophy, Shuffling gait, Abnormal head movements, Macrotia, Low... ORPHA:276432
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... OMIM:201050
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Facial diplegia, Hypogonadism OMIM:160900
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Neurodevelopmental Disorder With Involuntary Movements
Cerebral atrophy, Generalized hypotonia, Hyperkinetic movements, Chorea, Athetosis, Involuntary m... OMIM:617493
Huntington Disease-Like 2
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia OMIM:606438
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Sensorineural hearing impairment, Decreased sensory nerve conduction velocity, Hand tremor, Decre... OMIM:162400
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Athet... ORPHA:280219
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Generalized hypotonia, Parkinsonism, Craniofacial dyst... ORPHA:71517
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Abnormal autonomic nervous system physiology, Spastic paraparesis... ORPHA:329284
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, EEG abnormality, Bradykinesia, Generalized hypotonia, Rigidity, Tremor, Dystonia OMIM:617836
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Dysphagia, Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:319487
Chromosome 18P Deletion Syndrome
Small for gestational age, Dystonia, Macrotia OMIM:146390
Infantile Cerebellar-Retinal Degeneration
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Athetosis, Optic atrophy, Ce... OMIM:614559
Paroxysmal Nonkinesigenic Dyskinesia 1
Torticollis, Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:118800
Autosomal Recessive Dopa-Responsive Dystonia
Ataxia, Bradykinesia, Oculogyric crisis, Generalized hypotonia, Rigidity, Focal dystonia, Babinsk... ORPHA:101150
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Cerebral atrophy, Myoclonus, Hyperkinetic movements, Choreoathetosis, Hypotonia, Dystonia OMIM:618497
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Generalized hypotonia, Optic atrophy, Spasticity, H... OMIM:614702
3-Methylglutaconic Aciduria Type 1
Spastic tetraparesis, Failure to thrive, Progressive cerebellar ataxia, Dystonia ORPHA:67046
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... OMIM:235200
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... ORPHA:53583
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Generalized hypotonia, Tremor, Writer's cramp, Hypotonia OMIM:159900
Crouzon Syndrome