Gene Summary

myosin XVA

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased total body fat amount Myo15tm1a(EUCOMM)Wtsi HOM Early adult 1.63×10-05
increased grip strength Myo15tm1a(EUCOMM)Wtsi HOM Early adult 6.39×10-06
cataract Myo15tm1a(EUCOMM)Wtsi HOM Early adult 4.26×10-06
abnormal lens morphology Myo15tm1a(EUCOMM)Wtsi HOM Early adult 4.26×10-06
absent pinna reflex Myo15tm1a(EUCOMM)Wtsi HOM Early adult 1.05×10-18

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.72% (4 of 558)
aorta 0.18% (1 of 552)
blood vessel 0.0%
bone 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
eye 0.0%
gall bladder 0.0%
heart 0.19% (1 of 540)
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.36% (2 of 549)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
parathyroid gland 0.19% (1 of 528)
peripheral nervous system 0.18% (1 of 548)
peyer's patch 0.61% (1 of 165)
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
striatum 0.55% (3 of 547)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
trachea 0.55% (3 of 547)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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


XRay Images Forepaw

13 Images


XRay Images Skull Lateral Orientation

13 Images


XRay Images Skull Dorso Ventral Orientation

13 Images


XRay Images Whole Body Dorso Ventral

14 Images


XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 128 images

Human diseases caused by Myo15a 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 Myo15a by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316

The table below shows human diseases predicted to be associated to Myo15a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Recessive 112
Progressive hearing impairment OMIM:618257
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Hearing impairment OMIM:614934
Deafness, Autosomal Recessive 18B
Hearing impairment OMIM:614945
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 4B
Hearing impairment OMIM:614614
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 56
Hearing impairment OMIM:615629
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Progressive hearing impairment, Vestibular dysfunction OMIM:616044
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Involuntary movements, Chorea OMIM:616939
Auditory Neuropathy, Autosomal Dominant 1
Absence of acoustic reflex, Sensorineural hearing impairment, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Neuropathy, Hereditary Sensory, Atypical
Babinski sign, Sensory ataxia, Ataxia OMIM:256860
Deafness, Autosomal Recessive 9
Absence of acoustic reflex, Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
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 Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Mid-Tone Neural
Progressive hearing impairment, Sensorineural hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Progressive hearing impairment, Sensorineural hearing impairment OMIM:608372
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Posterior Column Ataxia
Impaired proprioception, Ataxia, Impaired vibratory sensation OMIM:176250
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication OMIM:168885
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Tapetoretinal Degeneration With Ataxia
Ataxia OMIM:272600
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 7
Vestibular dysfunction, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Deafness, Autosomal Recessive 12
Prelingual sensorineural hearing impairment OMIM:601386
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Dominant 79
Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment OMIM:616515
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Deafness, Autosomal Recessive 15
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
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
Opticocochleodentate Degeneration
Spastic tetraplegia, Cochlear degeneration, Optic atrophy, Hearing impairment OMIM:258700
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
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 Recessive 113
Sensorineural hearing impairment OMIM:618410
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
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 Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
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 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, 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 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 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Ataxia, Hypertonia ORPHA:2672
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Impaired proprioception, Spastic dysarthria, Spastic paraplegia, Lower ... ORPHA:251282
Myoclonus, Familial, 1
Frequent falls, Falls, Ataxia, Myoclonus OMIM:614937
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Spinocerebellar Ataxia Type 23
Dysmetria, Impaired proprioception, Gait ataxia, Progressive cerebellar ataxia, Impaired distal v... ORPHA:101108
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia ORPHA:3233
Primary Dystonia, Dyt13 Type
Action tremor, Motor stereotypy, Involuntary movements, Torticollis, Postural tremor, Jerky head ... ORPHA:98807
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Episodic Ataxia, Type 8
Episodic ataxia, Ataxia, Slurred speech, Intention tremor OMIM:616055
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Myoclonus, Cerebellar Ataxia, And Deafness
Hearing impairment, Ataxia, Myoclonus OMIM:159800
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Abnormal head movements, Ataxia ORPHA:71518
Cerebellar Ataxia And Albinism
Head tremor, Ataxia OMIM:258300
Aniridia 3
Cataract OMIM:617142
Cerebellar Ataxia, Cayman Type
Intention tremor, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait ORPHA:94122
Deafness, Autosomal Dominant 9
Tinnitus, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Postlingual sensorin... OMIM:601369
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Ataxia OMIM:617769
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Sensorineural hearing impairment, Low-frequency hearing loss OMIM:124900
Episodic Ataxia Type 4
Incoordination, Frequent falls, Abnormal head movements, Ataxia ORPHA:79136
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Autosomal Spastic Paraplegia Type 30
Progressive spastic paraplegia, Spastic gait, Somatic sensory dysfunction, Lower limb spasticity,... ORPHA:101010
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Abnormal pyramidal sign, Postural tremor, Difficulty walking ORPHA:85292
Spinocerebellar Ataxia 41
Ataxia, Unsteady gait OMIM:616410
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal OMIM:618013
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus, Hearing impairment OMIM:608224
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Somatic sensory dysfunction, Apraxia, Involuntary moveme... ORPHA:240103
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Ataxia, Tremor OMIM:615945
Progressive Myoclonic Epilepsy Type 1
Intention tremor, Ataxia, Limb ataxia, Morning myoclonic jerks, Myoclonus ORPHA:308
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Deafness, Congenital, And Familial Myoclonic Epilepsy
Hearing impairment, Myoclonus OMIM:220300
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Somatic sensory dysfunction, Impaired proprioception, Fasciculations, Un... ORPHA:95434
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Spinocerebellar Ataxia Type 35
Dysmetria, Intention tremor, Progressive cerebellar ataxia, Gait ataxia, Torticollis, Limb ataxia... ORPHA:276193
Cerebral Creatine Deficiency Syndrome 2
Progressive extrapyramidal movement disorder, Ataxia, Myoclonus, Hypertonia OMIM:612736
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Dysdiadochokinesis, Broad-based ... OMIM:616053
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... OMIM:616948
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia, Slowed slurred speech OMIM:172500
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Limb ataxia, Abnormal head movements, Pro... ORPHA:247815
Cataract OMIM:190330
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Spastic paraparesis, Unsteady gait, Gait ataxia, Dysdiadochokinesis,... ORPHA:423275
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor ORPHA:2589
Spinocerebellar Ataxia 35
Incoordination, Dysmetria, Intention tremor, Ataxia, Torticollis, Babinski sign, Difficulty walking OMIM:613908
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Huntington Disease-Like 3
Abnormal pyramidal sign, Extrapyramidal dyskinesia, Extrapyramidal muscular rigidity, Spasticity,... ORPHA:157946
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Huntington Disease-Like 1
Incoordination, Simultanapraxia, Dysmetria, Frequent falls, Involuntary movements, Bradykinesia, ... ORPHA:157941
Spinocerebellar Ataxia, Autosomal Recessive 10
Dysmetria, Intention tremor, Fasciculations, Gait ataxia, Limb ataxia, Truncal ataxia OMIM:613728
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Choreoathetosis, Jerky head movements OMIM:245348
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor OMIM:165300
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Spinocerebellar Ataxia, Autosomal Recessive 17
Truncal ataxia, Dysmetria, Unsteady gait, Tremor OMIM:616127
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Fraxe Intellectual Disability
Recurrent hand flapping, Stereotypical body rocking, Clumsiness, Prominent ear helix ORPHA:100973
X-Linked Retinoschisis
Cataract ORPHA:792
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Spastic dysarthria, Head tremor, Gait ataxia, Progressive cerebellar ataxi... ORPHA:95433
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cogwheel rigidity, Gait disturbance, Dysdiadochokinesis, Limb dysmet... ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Dysmetria, Ataxia OMIM:617584
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Galactosemia Iv
Cataract OMIM:618881
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Macrotia, Hyperkinetic movements ORPHA:397933
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Ataxia, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movements,... ORPHA:382
Spinocerebellar Ataxia, Autosomal Recessive 6
Dysmetria, Intention tremor, Ataxia, Gait ataxia, Spasticity, Clumsiness OMIM:608029
Autosomal Dominant Striatal Neurodegeneration
Gait disturbance, Rigidity, Bradykinesia, Dysdiadochokinesis ORPHA:228169
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Uns... ORPHA:98762
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Ataxia, Tremor OMIM:616421
3-Methylglutaconic Aciduria Type 3
Ataxia, Spastic paraparesis, Choreoathetosis, Gait disturbance ORPHA:67047
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Cochlear aplasia... OMIM:619274
Spinocerebellar Ataxia 19
Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, Limb ataxia, Postu... OMIM:607346
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysdiadochokinesis, Babins... OMIM:301310
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Deafness, Autosomal Dominant 64
Tinnitus, Sensorineural hearing impairment OMIM:614152
Deafness, Autosomal Dominant 67
Tinnitus, Sensorineural hearing impairment OMIM:616340
Deafness, Autosomal Dominant 36
Tinnitus, Sensorineural hearing impairment OMIM:606705
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Galactosemia Ii
Cataract OMIM:230200
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Intention tremor, Ataxia, Spasticity, Abnormality of extrapyramidal motor function OMIM:616140
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Fasciculations, Bradykinesia, Ataxia, Rigidity, Spasticity OMIM:183050
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Truncal ataxia, Broad-based gait ORPHA:210128
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Dysmetria, Impaired vibratory sensation, Oculomotor apraxia, Progressive cerebellar ataxia, Progr... ORPHA:284324
Spinocerebellar Ataxia, X-Linked 4
Abnormal pyramidal sign, Ataxia, Tremor OMIM:301840
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Gait ataxia, Babinski sign, Limb ataxia, Clumsiness, Postur... OMIM:609270
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait, Distal sensory impairment, Dysdiadochokines... OMIM:617633
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Paroxysmal Exertion-Induced Dyskinesia
Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Lower limb spasticity, Ataxia, Par... ORPHA:98811
Chromosome Xq21 Deletion Syndrome
Progressive sensorineural hearing impairment, Incomplete partition of the cochlea, Conductive hea... OMIM:303110
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Poor coordination, Recurrent hand flapping OMIM:309548
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears OMIM:619717
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231183
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Axonal degeneration, Decreased motor nerve conduction velocity... OMIM:601596
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Abnormal pyramidal sign, Choreoathetosis, Paroxysmal dyskinesia, Spastic paraplegia, Paresthesia,... ORPHA:53583
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Ataxia, Vestibular hypofunction ORPHA:231169
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Mixe... OMIM:602588
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Mohr-Tranebjaerg Syndrome
Ankle clonus, Vestibular dysfunction, Abnormal pyramidal sign, Abnormality of somatosensory evoke... ORPHA:52368
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Spinocerebellar Ataxia 44
Frequent falls, Dysmetria, Ataxia, Gait ataxia, Spasticity, Dysdiadochokinesis OMIM:617691
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Arthrogryposis multiplex congenita OMIM:212540
Cataract 47
Microcornea, Cataract OMIM:612018
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Distal sensory impairment, Babinski sign, Limb dysmetria OMIM:600223
Leber Congenital Amaurosis 1
Eye poking, Sensorineural hearing impairment, Optic disc drusen OMIM:204000
Kahrizi Syndrome
Elbow flexion contracture, Cataract, Iris coloboma, Knee flexion contracture OMIM:612713
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Atypical Rett Syndrome
Pill-rolling tremor, Apraxia, Stereotypical hand wringing, Involuntary movements, Loss of ability... ORPHA:3095
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Progressive hearing impairment, Tinnitus OMIM:193005
Nathalie Syndrome
Cataract OMIM:255990
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Intention tremor, Fasciculations, Ataxia, Gait ataxia, Spasticity, Dysdi... OMIM:133190
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Ataxia, Abnormality of the inner ear... ORPHA:705
Encephalopathy, Recurrent, Of Childhood
Incoordination, Choreoathetosis, Intention tremor, Athetosis, Chorea, Truncal ataxia, Babinski sign OMIM:130950
Intellectual Disability-Cataracts-Kyphosis Syndrome
Elbow flexion contracture, Cataract, Iris coloboma, Knee flexion contracture ORPHA:171860
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping OMIM:300624
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Spinocerebellar Ataxia 15
Action tremor, Gait ataxia, Limb ataxia, Truncal ataxia, Postural tremor OMIM:606658
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin ORPHA:291
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Inguinal hernia, Cataract, Cigarette-paper scars OMIM:608763
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Cataract 11, Multiple Types
Cataract OMIM:610623
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Motor stereotypy, Spastic dysarthria, Spasticity, Babinski sign, ... ORPHA:280763
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Inguinal hernia, Cataract, Umbilical hernia ORPHA:1373
Stiff Skin Syndrome
Lipodystrophy, Elbow flexion contracture, Cataract, Knee flexion contracture, Camptodactyly OMIM:184900
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Spastic Tetraplegia And Axial Hypotonia, Progressive
Abnormal pyramidal sign, Spastic tetraparesis, Hypertonia, Fasciculations, Lower limb spasticity,... OMIM:618598
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor OMIM:278780
Spinocerebellar Ataxia Type 19/22
Poor coordination, Ataxia, Cogwheel rigidity, Limb ataxia, Broad-based gait, Truncal ataxia, Impa... ORPHA:98772
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Foxg1 Syndrome
Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Spasticity, Di... ORPHA:561854
Syngap1-Related Developmental And Epileptic Encephalopathy
Anteverted ears, Ataxia, Poor coordination, Abnormality of pain sensation, Recurrent hand flappin... ORPHA:544254
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Low-set ears, Motor stereotypy, Cerebral palsy, Spasticity, Hyper... ORPHA:352490
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Dentatorubral Pallidoluysian Atrophy
Dysmetria, Action tremor, Choreoathetosis, Impaired proprioception, Blepharospasm, Involuntary mo... ORPHA:101
Aniridia 2
Cataract, Aniridia OMIM:617141
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Jeavons Syndrome
Limb myoclonus, Abnormal head movements ORPHA:139431
Autosomal Recessive Non-Syndromic Intellectual Disability
Spasticity, Chorea, Motor stereotypy ORPHA:88616
Proximal Myotonic Myopathy
Cataract ORPHA:606
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Gait disturbance, Abnormality o... ORPHA:275864
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Stereotypical hand wringing, Inability to walk, Gait ataxia, Spasticity, Chorea OMIM:618917
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Increased adipose tissue OMIM:617404
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal optic disc pallor... ORPHA:1215
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Joubert Syndrome 33
Oculomotor apraxia, Ataxia OMIM:617767
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Retinitis Pigmentosa 40
Cataract OMIM:613801
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Impaired pain sensation, Difficulty walking, Gait disturbance ORPHA:505652
Retinitis Pigmentosa 84
Cataract OMIM:618220
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Leber Congenital Amaurosis 8
Keratoconus, Cataract OMIM:613835
Christianson Syndrome
Gait ataxia, Truncal ataxia, Macrotia, Motor stereotypy ORPHA:85278
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Macrotia, Recurrent hand flapping OMIM:617268
Acrocraniofacial Dysostosis
Abnormality of the outer ear, Conductive hearing impairment, Abnormal auditory evoked potentials,... OMIM:201050
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Motor stereotypy, Myoclonus, Prominent ear helix ORPHA:411986
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Macrotia, Upper limb spasticity, Hyperkinetic movements, Tremor ORPHA:457240
4Q21 Microdeletion Syndrome
Low-set ears, Tremor, Hearing impairment, Motor stereotypy ORPHA:238750
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Leber Congenital Amaurosis 2
Eye poking, Optic disc pallor OMIM:204100
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Aplasia of the semicircular canal, Dilated vestibule of the inn... OMIM:611584
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Spasticity, Recurrent hand flapping OMIM:618859
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Bor Syndrome
Hearing impairment, Atresia of the external auditory canal, Enlarged cochlear aqueduct, External ... ORPHA:107
Pellagra-Like Syndrome
Cataract OMIM:260650
Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism, Myoclonic spasms, Motor stereotypy, Loss of ability to walk, Poor motor coordinatio... ORPHA:79264
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Rett Syndrome
Motor stereotypy, Stereotypical hand wringing, Bradykinesia, Inability to walk, Limb apraxia, Abn... ORPHA:778
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Abnormal helix morphology, Optic nerve hypoplasia, Spasticity, Pr... ORPHA:401777
Hyperferritinemia With Or Without Cataract
Pulverulent cataract, Nuclear cataract OMIM:600886
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy ORPHA:85277
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Hypertonia, Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Retinitis Pigmentosa 4
Cataract OMIM:613731
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Exudative Vitreoretinopathy 6
Cataract OMIM:616468
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Childhood Absence Epilepsy
Punding, Limb myoclonus, Jerky head movements ORPHA:64280
Lamb-Shaffer Syndrome
Upper motor neuron dysfunction, Optic atrophy, Ataxia, Motor stereotypy ORPHA:530983
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Martsolf Syndrome 2
Camptodactyly, Camptodactyly of finger, Cataract, Developmental cataract OMIM:619420
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Cataract, Flexion contracture OMIM:613154
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Intellectual Developmental Disorder, Autosomal Dominant 7
Incoordination, Stereotypical hand wringing, Ataxia, Macrotia, Thickened helices OMIM:614104
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Motor stereotypy, Sensorineural hearing impairment, Congenital sensorineu... ORPHA:500159
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Cataract, Developmental cataract OMIM:614482
Alazami Syndrome
Stereotypical hand wringing, Low-set ears, Motor stereotypy ORPHA:319671
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Gait ataxia, Bilateral s... ORPHA:1435
Sandifer Syndrome
Torticollis, Abnormal head movements ORPHA:71272
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Cerebellar atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ... OMIM:619260
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Motor stereotypy ORPHA:228384
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Iris coloboma OMIM:212550
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Macrotia, Motor stereotypy ORPHA:391307
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent otitis media, Abnormality of the ear, Repetitive compulsive behavior, Spasticity, Oromo... ORPHA:391372
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spastic tetraplegia, Sensorineural hearing impairment, Spastic paraparesis, Aganglionic megacolon... OMIM:609136
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Macrocephaly-Developmental Delay Syndrome