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Gene: Myo15a MGI:1261811

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Gene Summary

Name:
myosin XVA
Synonyms:
Myo15

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
cataract Myo15atm1a(EUCOMM)Wtsi HOM Early adult 4.26×10-06
abnormal lens morphology Myo15atm1a(EUCOMM)Wtsi HOM Early adult 4.26×10-06
increased grip strength Myo15atm1a(EUCOMM)Wtsi HOM Early adult 3.95×10-05
absent pinna reflex Myo15atm1a(EUCOMM)Wtsi HOM Early adult 1.05×10-18
increased total body fat amount Myo15atm1a(EUCOMM)Wtsi HOM Early adult 1.63×10-05

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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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.

X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Legacy Phenotype Associated Images
Myo15tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Myo15tm1a(EUCOMM)Wtsi
body, WT, Male, WTSI
Myo15tm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Myo15tm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Myo15tm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI

View all 128 images

Myo15tm1a(EUCOMM)Wtsi
left eye, HOM, Female, WTSI
Myo15tm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Myo15tm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

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
phenotypes		 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
phenotypes		 Matching phenotypes Source
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
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
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
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 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 1B
Hearing impairment, Abnormal vestibular function OMIM:612645
Deafness, Autosomal Recessive 84A
Hearing impairment, Abnormal vestibular function OMIM:613391
Deafness, Autosomal Dominant 65
Progressive hearing impairment, Abnormal vestibular function OMIM:616044
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 25
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absence of acoustic reflex, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural hearing impairment OMIM:607101
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Auditory Neuropathy, Autosomal Dominant 2
Sensorineural hearing impairment, Abnormal speech discrimination OMIM:620384
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Abnormal vestibular function, Absent brainstem audit... OMIM:616515
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Deafness, Autosomal Recessive 113
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618410
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616357
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618481
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619174
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment, Abnormal vestibular function OMIM:616969
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment, Abnormal vestibular function OMIM:609965
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment, Abnormal vestibular function OMIM:605583
Deafness, Autosomal Recessive 3
Profound sensorineural hearing impairment OMIM:600316
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
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
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
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
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 Dominant 37
Sensorineural hearing impairment OMIM:618533
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
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 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
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 Recessive 120
Sensorineural hearing impairment OMIM:620238
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 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 Dominant 13
Sensorineural hearing impairment OMIM:601868
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 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
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, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
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 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Jerky head movements, Babinski sign, Hypertonia, Difficulty walking, Impaired propr... ORPHA:251282
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Abnormality of extrapyramidal motor function, Athetosis, Progressive extra... ORPHA:382
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Spastic Paraplegia 72A, Autosomal Dominant
Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio... OMIM:615625
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Autism, Susceptibility To, 8
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:607373
Autism
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:209850
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Primary Dystonia, Dyt13 Type
Jerky head movements, Torticollis, Involuntary movements, Action tremor, Motor stereotypy, Postur... ORPHA:98807
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Spastic diplegia, Aggressive be... OMIM:617270
Parasomnia, Sleep Bruxism Type
Bruxism, Myoclonus OMIM:606840
Spinocerebellar Ataxia Type 23
Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist... ORPHA:101108
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Spasticity, Bruxism, Aggressive behavior OMIM:615493
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity, Bruxism, Aggressive behavior ORPHA:356996
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Motor ster... OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Motor stereotypy OMIM:606053
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia, Dysphagia OMIM:615945
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Torticollis ORPHA:71518
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Ataxia, Incoordination ORPHA:79136
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Cataract 42
Cataract, Developmental cataract OMIM:115900
Spastic Paraparesis And Deafness
Cataract, Tremor OMIM:312910
Ataxia With Fasciculations
Fasciculations, Ataxia OMIM:108700
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Paroxysmal dyskinesia, Falls, Chorea, Inappropriate laughter, Ataxia, Motor stereotypy, Poor coor... OMIM:619150
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai... OMIM:616053
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Urocanase Deficiency
Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria, Aggressive behavior OMIM:276880
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Involuntary movements, Motor stereotypy, Aggressive behavior OMIM:617171
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Jerky head movements, Limb apraxia, Apraxia, Progressive extrapyramidal muscular ri... ORPHA:240103
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Unsteady gait, Motor stereotypy, Self-mutilation OMIM:614063
Trichomegaly
Cataract OMIM:190330
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
X-Linked Retinoschisis
Cataract ORPHA:792
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity, Dysphagia ORPHA:228169
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Spinocerebellar Ataxia 35
Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio... OMIM:613908
Ocular Motor Apraxia
Jerky head movements, Oculomotor apraxia OMIM:257550
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Huntington Disease-Like 1
Bradykinesia, Jerky head movements, Chorea, Incoordination, Poor fine motor coordination, Frequen... ORPHA:157941
Spinocerebellar Ataxia Type 35
Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ... ORPHA:276193
Optic Atrophy 3, Autosomal Dominant
Cataract, Tremor OMIM:165300
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal pyr... ORPHA:247815
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300495
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract OMIM:274205
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Inability to walk, Motor stereotypy OMIM:617830
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy, Hand tremor OMIM:617862
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Aggressive behavior OMIM:239500
Huntington Disease-Like 3
Broad-based gait, Abnormality of extrapyramidal motor function, Chorea, Extrapyramidal muscular r... ORPHA:157946
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Deafness, Autosomal Recessive 77
Tinnitus, Bilateral sensorineural hearing impairment, Abnormal vestibular function OMIM:613079
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida... OMIM:616948
Spinocerebellar Ataxia Type 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Unsteady gait, Spastic parap... ORPHA:423275
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Hyperactivity, Motor stereotypy, Aggressive behavior OMIM:619470
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Attention deficit hyperactivity disorder, Dysmetria OMIM:619191
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Spasticity, Involuntary movements, Motor stereotypy, Self-injurious behavior OMIM:617820
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal auditory evoked potentials ORPHA:99852
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment OMIM:608224
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Macrotia, Posteriorly rotated ears, Motor stereotypy, Aggressive beh... OMIM:609425
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Truncal ataxia, Gait disturbance, Ataxia, Dysphagia, Unsteady gait ORPHA:284271
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Spinocerebellar Ataxia 44
Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysphagia, Dysmetria OMIM:617691
Cataract 9, Multiple Types
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Galactosemia Ii
Cataract OMIM:230200
Fragile X Syndrome
Hyperactivity, Abnormal head movements, Recurrent hand flapping, Self-biting OMIM:300624
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Babinski sign, Myoclonus, Gait disturbance, Rigidity, Disinhibition, Moto... OMIM:600795
Galactosemia Iv
Cataract OMIM:618881
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Motor stereotypy OMIM:615282
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Hand tremor ORPHA:401830
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Chorea, Spasticity, Compulsive behaviors, Stereotypical hand wringing, Gait at... OMIM:618917
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc... OMIM:617633
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Baker-Gordon Syndrome
Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Involuntary movements, Ataxia... OMIM:618218
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Bradykinesia, Resting tremor, Chorea, Myoclonus, Cogwheel rigidity, Intention tremor, Ataxia, Par... OMIM:619725
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Restrictive behavior, Fasciculations, Abnormality of extrapyramidal motor... ORPHA:275864
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Speech apraxia, Inflexible adherence to routines, Motor stereotypy, Attenti... OMIM:613670
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Agitation, Hypertonia, Spasticity, Tremor, Unsteady gait, Dysphagia, Motor stereoty... OMIM:617435
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Disinhibition, Dysphagia, Motor stereotypy OMIM:612069
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Spasticity, Tremor, Motor stereotypy, Self-injurious behavior, ... OMIM:618718
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Cataract 47
Cataract, Microcornea OMIM:612018
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Nathalie Syndrome
Cataract OMIM:255990
Pick Disease Of Brain
Inappropriate laughter, Disinhibition, Polyphagia, Motor stereotypy OMIM:172700
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Spasticity, Ataxia, Dysphag... OMIM:617695
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Autism, Susceptibility To, 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608049
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration ORPHA:95433
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Choreoathetosis, Ataxia, Oculomotor apraxia OMIM:245348
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Apraxi... ORPHA:3095
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Self-injurious behavior, Motor stereotypy OMIM:619690
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Inguinal hernia, Umbilical hernia ORPHA:1373
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin ORPHA:291
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Iris coloboma OMIM:612713
Spinocerebellar Ataxia, Autosomal Recessive 7
Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Dysphagi... OMIM:609270
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Truncal ataxia, Gait disturbance, Ataxia, Dysphagia OMIM:614229
Stiff Skin Syndrome
Elbow flexion contracture, Camptodactyly, Lipodystrophy, Knee flexion contracture, Cataract OMIM:184900
Foxg1 Syndrome
Difficulty walking, Hyperkinetic movements, Inability to walk, Spasticity, Stereotypical hand wri... ORPHA:561854
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Xeroderma Pigmentosum, Complementation Group G
Cataract, Tremor OMIM:278780
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Proximal Myotonic Myopathy
Cataract ORPHA:606
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Retinitis Pigmentosa 40
Cataract OMIM:613801
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Motor stereotypy, Myoclonus OMIM:619092
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Gait disturbance, Macrotia... OMIM:614104
Smith-Magenis Syndrome
Abnormal middle ear morphology, Abnormal nerve conduction velocity, Head-banging, Hyperactivity, ... OMIM:182290
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Epilepsy With Eyelid Myoclonia
Limb myoclonus, Abnormal head movements ORPHA:139431
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Jerky head movements, Punding, Limb myoclonus ORPHA:64280
Leber Congenital Amaurosis 6
Cataract, Keratoconus OMIM:613826
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Sensorineural hearing impairment, Low-set ears, Attention deficit hyperactivity di... OMIM:618342
Developmental And Epileptic Encephalopathy 6B
Hyperkinetic movements, Inability to walk, Chorea, Ataxia, Motor stereotypy, Myoclonus, Choreoath... OMIM:619317
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Difficulty walking, Spastic dysarthria, Spasticity, Waddling gait, Motor stereotyp... ORPHA:280763
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Difficulty walking, Motor stereotypy OMIM:617393
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Low-set ears, Compulsive behaviors, Repetitive compulsive behavior, Motor stereoty... ORPHA:352490
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Hyperactivity, Low-se... ORPHA:251061
Dentici-Novelli Neurodevelopmental Syndrome
Hearing impairment, Macrotia, Motor stereotypy OMIM:619877
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Macrotia, Dysphagia, Motor stereotypy DECIPHER:45
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Motor stereotypy, Attention deficit hyperactivity disorder, Aggres... OMIM:301029
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma OMIM:120433
Bor Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ... ORPHA:107
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Macrotia, Motor stereotypy OMIM:618504
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... OMIM:617808
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Sensorineural hearing impairment, Brain atrophy, Cerebellar atrophy, Abnormal a... OMIM:619260
Christianson Syndrome
Truncal ataxia, Gait ataxia, Macrotia, Inappropriate laughter, Dysphagia, Motor stereotypy ORPHA:85278
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Chorea, Recurrent hand flapping, Cerebral palsy, Motor stereotypy, Myoclonus, Atte... OMIM:617600
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Skin-picking, Motor... OMIM:600430
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Developmental Delay, Language Impairment, And Ocular Abnormalities
Apraxia, Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention defici... OMIM:620141
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Pain insensitivity, Motor stereotypy, Attention deficit hyperactivity... OMIM:618825
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Tongue thrusting, Recurrent hand flapping, Impulsivity, Gait ataxia, Hearing i... OMIM:619580
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, Motor stereotypy, Broad-based gait OMIM:616351
Cataract 48
Cataract OMIM:618415
Aniridia 3
Cataract, Aniridia OMIM:617142
2Q23.1 Microdeletion Syndrome
Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior, Paroxysmal bursts o... ORPHA:228402
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Low-set ears, Compulsive behaviors, Hearing impairment, Ma... OMIM:618027
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Difficulty walking, Broad-based gait, Gait ataxia, Motor stereotypy, Prominent ant... OMIM:617807
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Hyperactivity, Ataxia, Motor stereotypy ORPHA:530983
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Aggressive behavior ORPHA:391307
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy OMIM:613443
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... ORPHA:319671
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Spasticity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Ag... OMIM:610042
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy ORPHA:411986
Hijazi-Reis Syndrome
Lower limb spasticity, Gait disturbance, Motor stereotypy, Ankle clonus OMIM:301094
4Q21 Microdeletion Syndrome
Hearing impairment, Self-injurious behavior, Low-set ears, Motor stereotypy ORPHA:238750
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Spastic gait, Babinski sign, Scissor gait, Truncal ataxia, Motor stereotypy, Attention deficit hy... OMIM:619121
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy OMIM:620502
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Cri-Du-Chat Syndrome
Optic atrophy, Hyperactivity, Stenosis of the external auditory canal, Abnormal pinna morphology,... OMIM:123450
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Agitation, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Gait disturbanc... OMIM:617903
Potocki-Lupski Syndrome
Hearing impairment, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Motor stereotypy, Self-biting, Aggressive behavior ORPHA:3306
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Macroti... ORPHA:449291
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavio... ORPHA:313892
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ster... OMIM:617751
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Inguinal hernia ORPHA:1069
Deafness, Unilateral
Unilateral deafness OMIM:125000
22Q11.2 Duplication Syndrome
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:1727
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Macrotia, Self-mutilation, Motor stereotypy ORPHA:457240
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Atypical scarring of skin ORPHA:1366
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination ORPHA:397612
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Ag... OMIM:618430
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Congenital... ORPHA:500159
Developmental And Epileptic Encephalopathy 64
Inability to walk, Chorea, Macrotia, Motor stereotypy, Self-injurious behavior, Bruxism OMIM:618004
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diffuse cerebral atrophy, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Motor stereotypy ORPHA:85277
Juvenile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Poor motor coordination, Myoclonic spasms, Loss of ambulation, Dysp... ORPHA:79264
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Ogden Syndrome
Abnormal head movements, Hypertonia, Shuffling gait, Torticollis ORPHA:276432
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Bilateral Generalized Polymicrogyria
Paroxysmal dyskinesia, Eyelid myoclonus, Oral-pharyngeal dysphagia, Spasticity, Motor stereotypy,... ORPHA:208447
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Achilles tendon contracture, Subcapsular cataract, Intention tremor OMIM:612674
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Motor stereotypy ORPHA:228384
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Motor stereotypy OMIM:617802
Rett Syndrome
Agitation, Difficulty walking, Inability to walk, Abnormal autonomic nervous system physiology, S... ORPHA:778
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypertonia, Recurrent hand flapping, Compulsive behaviors, Gait disturbance, Ataxia, Motor stereo... OMIM:300986
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Lower limb spasticity, Chorea, Progressive spasticity, Rigidity, Ataxia, Dysph... OMIM:300260
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Motor ... OMIM:617796
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Motor stereotypy, Self-injurious behavior, Cupped ear, Aggressive behavior OMIM:618914
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Inability to walk, Cortical myoclonus, Hyperactivity, Spasticity, Gai... ORPHA:168491
Dystonia-Deafness Syndrome 1
Cataract, Generalized dystonia, Leg dystonia, Oculogyric crisis OMIM:607371
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Lens subluxation, Cataract ORPHA:171844
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Snijders Blok-Campeau Syndrome
Broad-based gait, Low-set ears, Unsteady gait, Motor stereotypy, Attention deficit hyperactivity ... OMIM:618205
Chromosome 5P13 Duplication Syndrome
Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereotypy, Self-injurious be... OMIM:613174
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Poor fine motor coordination, Motor stereotypy, Poor coordination, Attention defic... OMIM:620242
Radio-Tartaglia Syndrome
Gait imbalance, Low-set ears, Impulsivity, Hearing impairment, Conductive hearing impairment, Ata... OMIM:619312
Ritscher-Schinzel Syndrome 4
Chorea, Athetosis, Impulsivity, Macrotia, Ataxia, Dysphagia, Motor stereotypy, Aggressive behavior OMIM:619435
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Attention deficit hyperactivity diso... OMIM:617061
Transketolase Deficiency
Compulsive behaviors, Hearing impairment, Motor stereotypy, Attention deficit hyperactivity disor... ORPHA:488618
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Spasticity, Dysphagia, Motor stereotypy, Involuntary movements ORPHA:572013
Apert Syndrome
Optic atrophy, Sensorineural hearing impairment, Conductive hearing impairment, Abnormal semicirc... ORPHA:87
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Macrotia, Stereotypical body... OMIM:300912
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Motor stereotypy ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Low-set ears, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressiv... OMIM:616393
48,Xxyy Syndrome
Chronic otitis media, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:10
Galloway-Mowat Syndrome 6
Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cerebral atrophy, Decreased nerve conduction velocity, Aganglionic megacolon, Short-segment agang... OMIM:609136
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Buphthalmos, Corneal scarring, Iris coloboma OMIM:212550
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Agitation, Ataxia, Motor stereotypy ORPHA:927
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Low-set ears, Gait ataxia, Motor stereotypy, Overfriendliness OMIM:616579
Arthrogryposis, Distal, Type 2A
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Macrotia, Self-mutilation, Motor stereotypy OMIM:300486
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Motor stereotypy ORPHA:529965
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Cellulitis, Corneal erosion OMIM:614878
Kleefstra Syndrome 1
Abnormal pinna morphology, Compulsive behaviors, Hearing impairment, Motor stereotypy, Aggressive... OMIM:610253
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Low-set ears, Frequent temper tantrums, Motor stereotypy, Attention deficit hyperac... OMIM:619103
White-Sutton Syndrome
Hyperactivity, Sensorineural hearing impairment, Optic nerve hypoplasia, Low-set ears, Bilateral ... OMIM:616364
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy/Degeneration affecting the cerebrum, Orthostatic hypotension, Sensorineural hearing impai... ORPHA:99027
Xq21 Microdeletion Syndrome
Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Bilateral sensorine... ORPHA:1435
Rauch-Steindl Syndrome
Hyperactivity, Attached earlobe, Prominent crus of helix, Motor stereotypy, Protruding ear, Aggre... OMIM:619695
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Posteriorly rotated ears, Motor stereotypy, Overfriendliness, Attention deficit hyp... OMIM:619293
Developmental And Epileptic Encephalopathy 66
Motor stereotypy, Broad-based gait OMIM:618067
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Aganglionic megacolon, Motor stereotypy, Attention deficit hyperact... OMIM:300352
Rett Syndrome, Congenital Variant
Tongue thrusting, Chorea, Athetosis, Motor stereotypy, Protruding ear, Bruxism OMIM:613454
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Macrotia, Posteriorl... OMIM:212066
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Aggressive behavior, Microtia, Compulsive behaviors, Hearing impairment, Posteriorly rotated ears... OMIM:620494
Proximal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Conductive hearing im... ORPHA:261197
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Motor stereotypy, Head tremor OMIM:619428
Norrie Disease
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... OMIM:310600
Smith-Magenis Syndrome
Chronic otitis media, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperact... ORPHA:819
Morning Glory Disc Anomaly
Cataract ORPHA:35737
White-Sutton Syndrome
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Compulsive behaviors, Posteriorly... ORPHA:468678
3P25.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Sensorineural hearing impairment, Motor stereotypy, Abn... ORPHA:435638
Joubert Syndrome 6
Oculomotor apraxia, Ataxia, Motor stereotypy OMIM:610688
Pilarowski-Bjornsson Syndrome
Speech apraxia, Motor stereotypy OMIM:617682
Phelan-Mcdermid Syndrome
Tongue thrusting, Broad-based gait, Impaired pain sensation, Hearing impairment, Macrotia, Unstea... OMIM:606232
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis... ORPHA:263479
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Inappropriate laughter, Macrotia, Prominent antihelix, Motor stereotypy OMIM:615802
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Head-banging, Sensorineural hearing impairment, Low-set ears, Frequent te... OMIM:619575
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Sensorineural hearing impairment, Motor stereotypy ORPHA:2479
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Motor stereotypy, Involuntary movements ORPHA:98784
Houge-Janssens Syndrome 3
Attention deficit hyperactivity disorder, Self-injurious behavior, Motor stereotypy OMIM:618354
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Conductive hearing impairment, Compulsive behaviors, Mo... ORPHA:1001
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Abnormality of visual evoked potentials, Absent ... ORPHA:79330
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Macrotia, Compulsive behaviors, Motor stereotypy OMIM:615656
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... OMIM:221900
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Optic nerve hypoplasia, Bilateral sensorineural hearing impairm... ORPHA:300570
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... ORPHA:90321
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... OMIM:106210
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Cerebrotendinous Xanthomatosis
Optic atrophy, Global brain atrophy, Decreased nerve conduction velocity, Axonal degeneration, Ab... ORPHA:909
Kleefstra Syndrome
Chronic otitis media, Hearing impairment, Motor stereotypy, Self-injurious behavior, Thickened he... ORPHA:261494
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Low-set ears, Ataxia, Unsteady gait, Motor stereotypy, Aggressive behavior ORPHA:457279
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Macrotia, Dysphagia, Motor stereotypy ORPHA:496641
Cystinosis
Polydipsia, Gait disturbance, Motor stereotypy ORPHA:213
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Sensorineural hearing impairment, Inability to walk, Motor stereotypy ORPHA:457351
Den Hoed-De Boer-Voisin Syndrome
Agitation, Inability to walk, Lower limb spasticity, Spasticity, Tremor, Stereotypical hand wring... OMIM:619229
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Hyperkinetic movements, Athetoid cerebral palsy, Chorea, Ataxia, Repetitive compul... ORPHA:522077
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Compulsive behaviors, Gait ataxia, Motor stereotypy, Attention deficit hyperactivity diso... ORPHA:476126
7Q11.23 Microduplication Syndrome
Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Hyperactivi... ORPHA:96121
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behavior... OMIM:619512
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Protruding ear ORPHA:447997
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Keratitis, Conjunctivitis, Cataract, Choreoathetosis, Keratoconjuncti... OMIM:278730
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormal temper tantrums, Decreased nerve conduction velocity, Hyperactivity, Sens... ORPHA:580
Niemann-Pick Disease, Type C2
Spasticity, Cataplexy, Ataxia, Dysphagia, Motor stereotypy OMIM:607625
Cockayne Syndrome A
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:216400
Persistent Hyperplastic Primary Vitreous
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... ORPHA:91495
Cockayne Syndrome B
Optic atrophy, Cerebral atrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... OMIM:133540
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... OMIM:612109
Charge Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Abnormality of the inner ear, Aplasia/Hypoplasi... ORPHA:138
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Small earlobe, Truncal ataxia, Low-set ears, Gait ataxia, Posteriorly rotated e... OMIM:617330
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Pitt-Hopkins Syndrome
Self-injurious behavior, Thickened helices, Motor stereotypy, Cupped ear OMIM:610954
Bainbridge-Ropers Syndrome
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears, Motor stereotypy, Self-injurious... OMIM:615485
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Microtia, Low-set ears, Posteriorly rotated ears, Motor stereotypy OMIM:301040
Autosomal Dominant Optic Atrophy And Cataract
Posterior subcapsular cataract, Posterior cortical cataract, Resting tremor, Anterior subcapsular... ORPHA:67036
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, Optic nerve hypoplasia, Bilateral sensorineural hearing impair... ORPHA:468631
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Cerebral palsy, Impulsivity, Head titubation, Ataxia, Bruxism, Aggressive behavior... OMIM:619475
Developmental And Epileptic Encephalopathy 2
Inability to walk, Motor stereotypy OMIM:300672
Norrie Disease
Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp... ORPHA:649
Wiedemann-Steiner Syndrome
Hyperactivity, Low-set ears, Dysphagia, Motor stereotypy, Aggressive behavior ORPHA:319182
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Van Esch-O'Driscoll Syndrome
Microtia, Impulsivity, Attention deficit hyperactivity disorder, Motor stereotypy, Protruding ear OMIM:301030
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Jerky head movements ORPHA:369837
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Protruding ear, Broad-based gait, Hyperactivity, Low-set ears, Gait ataxia, Short ear, Posteriorl... OMIM:614756
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Hyperactivity, Low-set ears, Hearing impairment, Posteriorly rotated ears, Motor s... OMIM:309590
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Attention deficit hyperactivity disorder, Optic disc pallor, Motor stereotypy ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Protruding ear, Optic disc pallor ORPHA:464306
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Low-set ears, Polyphagia, Compulsive behaviors, Facial palsy, Posteriorly rotated ... OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hair-pulling, Nail-biting, Optic nerve hypoplasia, Polyphagia, Fixated interests, Attention defic... OMIM:620330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Impaired pain sensation, Self-mutilation, Motor stereotypy OMIM:619005
Noonan Syndrome
Sensorineural hearing impairment, Thickened helices, Low-set, posteriorly rotated ears, Aplasia o... ORPHA:648
Kinsship Syndrome
Bruxism, Low-set ears, Motor stereotypy OMIM:619297
Nmda Receptor Encephalitis
Orthostatic tachycardia, Agitation, Orthostatic hypotension, Abnormal sudomotor regulation, Chore... ORPHA:217253
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, Posteriorly rotated ears, Motor stereotypy, Aggressive behavior OMIM:301066
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Overfolded helix, Motor stereotypy OMIM:618653
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Hearing impairment, Motor s... ORPHA:508498
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Dysphagia, Motor stereotypy, Choreoathetosis OMIM:619777
Arboleda-Tham Syndrome
Chronic otitis media, Optic atrophy, Recurrent otitis media, Small earlobe, Underdeveloped tragus... OMIM:616268
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Compulsive behaviors, Skin-picking, Motor stereotypy, Att... ORPHA:177907
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Abnormal Eustachian tube morphology, Stereotypical body rocking, Motor st... ORPHA:513456
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Compulsive behav... ORPHA:353281
Coffin-Siris Syndrome 12
Protruding ear, Sensorineural hearing impairment, Low-set ears, Facial palsy, Posteriorly rotated... OMIM:619325
Schinzel-Giedion Syndrome
Aganglionic megacolon, Abnormal helix morphology, Abnormal cochlea morphology, Low-set ears, Dysp... ORPHA:798
1P36 Deletion Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Pol... ORPHA:1606
Charge Syndrome
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Facial palsy,... OMIM:214800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypertonia, Opisthotonus, Inability to walk, Motor stereotypy ORPHA:508533
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Low-set, posteriorly rotated ears, Compulsive behaviors, Attention deficit ... ORPHA:534
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Posteriorly rotated ears, Overfolded helix, Motor stereotypy OMIM:301044
Ogden Syndrome
Recurrent otitis media, Low-set ears, Macrotia, Dysphagia, Motor stereotypy, Protruding ear OMIM:300855
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Co... ORPHA:353277
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Simple ear, Protruding ear, Sel... OMIM:612474
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Motor stereotypy OMIM:616682
Wolf-Hirschhorn Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... OMIM:194190
Primrose Syndrome
Superiorly displaced ears, Calcification of the auricular cartilage, Tics, Hearing impairment, Ma... OMIM:259050
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Microtia, Low-set ears, Posteriorly rotated ears, Dysphagia, Motor stereotypy, Att... OMIM:619522
Mowat-Wilson Syndrome
Aganglionic megacolon, Recurrent otitis media, Inability to walk, Broad-based gait, Impaired pain... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Recurrent otitis media, Aganglionic megacolon, Sensorineural hearing impairment, Uplifted earlobe... ORPHA:261537
Lowe Oculocerebrorenal Syndrome
Motor stereotypy, Aggressive behavior OMIM:309000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Recurrent otitis media, Aganglionic megacolon, Sensorineural hearing impairment, U... ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Myo15a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Myo15a.

No publications found that use IMPC mice or data for Myo15a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Myo15atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Myo15atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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