Gene Summary

Name:
clarin 1
Synonyms:
clarin-1,  USH3,  Ush3a,  A130002D11Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lung morphology Clrn1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal liver morphology Clrn1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal auditory brainstem response Clrn1tm1.1(KOMP)Vlcg HOM   Early adult 2.22×10-06
abnormal spleen morphology Clrn1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal kidney morphology Clrn1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal startle reflex Clrn1tm1.1(KOMP)Vlcg HOM Early adult 1.50×10-16
abnormal skin morphology Clrn1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal vibrissa morphology Clrn1tm1.1(KOMP)Vlcg HOM Early adult 4.99×10-06

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
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
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 Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
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)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 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)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 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 Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

23 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Clrn1 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 Clrn1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Clrn1 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
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 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
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Vestibular dysfunction, Progressive hearing impairment OMIM:616044
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural hearing impairment OMIM:613285
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 30
Progressive hearing impairment, Progressive sensorineural 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
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
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Deafness, Autosomal Recessive 84B
Sensorineural hearing impairment, Vestibular hypofunction OMIM:614944
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
Sensorineural hearing impairment, Vestibular dysfunction OMIM:600974
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Dominant 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 Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
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 Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:613307
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 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 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 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 Dominant 13
Sensorineural hearing impairment OMIM:601868
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 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 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 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... OMIM:601369
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Ravine Syndrome
Ataxia, Spasticity, Abnormal auditory evoked potentials ORPHA:99852
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Lower limb spasticity... ORPHA:320401
Deafness, Autosomal Dominant 41
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment OMIM:608224
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... OMIM:613074
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Spas... ORPHA:95433
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... ORPHA:87884
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... OMIM:125250
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Distal sensory impairment, Decreased nerve conduction velocity, Abnormal audi... OMIM:601455
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Charcot-Marie-Tooth Disease, Type 4C
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... OMIM:601596
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... OMIM:303110
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231183
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia ORPHA:231169
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the twelfth ... ORPHA:268882
Pendred Syndrome
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
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
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Acroparesthesia, Upper motor ... ORPHA:206443
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Adult Krabbe Disease
Hemiplegia, Ataxia, EEG abnormality, Acroparesthesia, Clumsiness, Hoffmann sign, Babinski sign, T... ORPHA:206448
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Spastic diplegia, Motor stereotypy, Hypsarrhythmia OMIM:617830
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular schwannoma OMIM:603641
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... ORPHA:99027
Branchiootic Syndrome 1
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... OMIM:602588
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear OMIM:618915
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, D... ORPHA:101085
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... ORPHA:90646
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Vestibulocochlear Dysfunction, Progressive
Tinnitus, Progressive hearing impairment, Vestibular areflexia OMIM:193005
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Hypsarrhythmia, Macrotia, Simplified gyral pattern, Hearing impairment OMIM:619877
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... ORPHA:251282
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis, Simplified gyral pattern OMIM:619470
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Abnormality of neuronal migration OMIM:618709
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, EEG abnormality, Tremor, Spasticity, Low-set ears OMIM:618718
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... ORPHA:705
Autism, Susceptibility To, X-Linked 3
Motor stereotypy, EEG abnormality OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, EEG abnormality OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy, EEG abnormality OMIM:300425
Autism
Motor stereotypy, EEG abnormality OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, EEG abnormality OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Pachygyria OMIM:606053
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Spastic tetraplegia, Head titubation, Vestibular areflexia ORPHA:3240
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, EEG with focal epileptiform discharges, EEG with generalized epileptiform disch... ORPHA:88616
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking, Optic disc drusen OMIM:204000
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Tetraparesis, Optic disc pallor, Abnormal auditory evok... OMIM:619260
Episodic Ataxia Type 4
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo ORPHA:79136
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Macrotia OMIM:615541
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping, Abnormal head movements, Macrotia OMIM:300624
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529808
Superficial Siderosis
Dysgyria, Abnormality of the brachial nerve plexus, Vertigo, Abnormality of the vestibulocochlear... ORPHA:247245
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia OMIM:617695
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia OMIM:619150
Deafness, Autosomal Dominant 80
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... OMIM:619274
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... OMIM:609136
Infantile Krabbe Disease
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... ORPHA:206436
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Motor stereotypy, Myoclonus, Hypsarrhythmia, Multifocal epile... ORPHA:411986
Bor Syndrome
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... ORPHA:107
Huntington Disease-Like 1
EEG abnormality, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Simultanaprax... ORPHA:157941
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia, Polymicrogyria OMIM:615282
Smith-Magenis Syndrome
Motor stereotypy, EEG abnormality, Impaired pain sensation, Morphological abnormality of the midd... OMIM:182290
Snijders Blok-Campeau Syndrome
Motor stereotypy, Low-set ears, Speech apraxia OMIM:618205
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... OMIM:618218
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Tremor, Low-set ears OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Abnormal pinna morphology, Ataxia, Stereotypical hand wringing, Macrotia, Incoo... OMIM:614104
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior, Low-set... ORPHA:352490
Xq28 (MECP2) duplication
Progressive spasticity, Gait ataxia, Motor stereotypy, Macrotia DECIPHER:45
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, EEG abnormality OMIM:239500
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, EEG abnormality, Involuntary movements, Spasticity OMIM:617820
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... ORPHA:98807
4Q21 Microdeletion Syndrome
Motor stereotypy, Hearing impairment, Low-set ears, Tremor ORPHA:238750
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Benign Schwannoma
Facial palsy, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnormality of per... ORPHA:252164
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... ORPHA:1435
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Motor stereotypy OMIM:619690
Christianson Syndrome
Motor stereotypy, Gait ataxia, Truncal ataxia, Macrotia ORPHA:85278
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Coffin-Siris Syndrome 6
Motor stereotypy, Conductive hearing impairment, Tics, Low-set, posteriorly rotated ears OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Hearing impairment OMIM:616351
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Gait ataxia, Spasticity OMIM:617807
Developmental And Epileptic Encephalopathy 30
Motor stereotypy, Hypsarrhythmia OMIM:616341
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Intellectual Developmental Disorder, Autosomal Dominant 48
Sensorineural hearing impairment, Motor stereotypy, Polymicrogyria, Recurrent otitis media, Low-s... OMIM:617751
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... ORPHA:500159
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... ORPHA:382
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Low-set ears, Bilateral conductive hearing impairment, Interictal epileptiform ... OMIM:617802
Potocki-Lupski Syndrome
Motor stereotypy, Hearing impairment, EEG abnormality OMIM:610883
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity OMIM:617393
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Macrotia OMIM:618504
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity ORPHA:457240
Hydroxykynureninuria
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment ORPHA:79155
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... OMIM:619317
Coffin-Siris Syndrome 7
Motor stereotypy, Low-set ears, Macrotia, Recurrent otitis media, Hearing impairment, Posteriorly... OMIM:618027
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... OMIM:619580
Rett Syndrome, Congenital Variant
Motor stereotypy, Protruding ear, EEG abnormality, Tongue thrusting, Chorea, Athetosis, Spasticit... OMIM:613454
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Ataxia, Optic atrophy, Tremor, Macrotia, Abnormality of peri... ORPHA:90321
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
D-Glyceric Aciduria
Sensorineural hearing impairment, Opisthotonus, Optic nerve hypoplasia, Myoclonus, Tongue thrusti... OMIM:220120
Neurofibromatosis, Type Ii
Peripheral Schwannoma, Bilateral vestibular schwannoma, Tinnitus, Occasional neurofibromas, Unila... OMIM:101000
Usher Syndrome, Type Iiia
Sensorineural hearing impairment, Vestibular dysfunction OMIM:276902
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Foxg1 Syndrome
Motor stereotypy, Myoclonus, Hyperkinetic movements, Stereotypical hand wringing, Choreoathetosis... ORPHA:561854
Deafness, Unilateral
Unilateral deafness OMIM:125000
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, EEG abnormality, Ataxia ORPHA:2479
22Q11.2 Duplication Syndrome
Motor stereotypy, Hearing impairment, Anterior creases of earlobe ORPHA:1727
Cerebrotendinous Xanthomatosis
Paraparesis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conducti... ORPHA:909
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Pain insensitivity, Rigidity, Chorea, Progressive spasticity, Repetitiv... OMIM:300260
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hirsutism, Hepatomegaly, F... ORPHA:79330
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Sensorineural hearing impairment, Torticollis, Motor stereotypy, Abnormal autonomic nervous syste... ORPHA:300570
Radio-Tartaglia Syndrome
Large earlobe, Low-set ears, Conductive hearing impairment, Ataxia, Motor stereotypy, Gray matter... OMIM:619312
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Gait ataxia, Impaired pain sensation, Incoordination, Low-set ears OMIM:616579
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... ORPHA:261197
Trisomy 10P
EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... ORPHA:171929
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Stenosis of the external auditory canal,... OMIM:123450
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Optic... ORPHA:79264
Autism, Susceptibility To, X-Linked 2
Motor stereotypy, EEG abnormality OMIM:300495
Alazami Syndrome
Motor stereotypy, Low-set ears, Stereotypical hand wringing ORPHA:319671
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Motor stereotypy, Perisylvian polymicrogyria, Dysmetria, Babinski sign, Truncal ... OMIM:619121
Ogden Syndrome
Torticollis, Hypertonia, Abnormal head movements, Macrotia, Low-set ears ORPHA:276432
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Macrotia ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, Low-set ears, Asymmetry of the ears, Motor stereotypy OMIM:617796
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... ORPHA:363558
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Motor stereotypy, EEG with generalized slow activity ORPHA:397612
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Optic atrophy, Repetitive compulsive behavior, Lower limb spasticity, Bila... ORPHA:66634
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... ORPHA:157946
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Low-set ears OMIM:613174
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Low-set, posteriorly rotated ears ORPHA:3306
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormality of the outer ear, Ataxia, Motor stereotypy ORPHA:435638
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia OMIM:613670
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Protruding ear, Motor stereotypy ORPHA:261144
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, EEG with frontal sharp slow ... ORPHA:457351
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis, Macrotia OMIM:619435
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Cupped ear, Cerebral palsy OMIM:618914
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Gait ataxia, Spasticity, Macrotia OMIM:300486
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Bilateral vestibular schwannoma, Paraspinal neurofibromas, Palmar neurofibromas OMIM:162260
Lamb-Shaffer Syndrome
Optic atrophy, Upper motor neuron dysfunction, Ataxia, Motor stereotypy ORPHA:530983
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Spasticity ORPHA:280763
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, EEG abnormality, EEG with focal spike waves, Upper limb spasticity, Myo... OMIM:619229
Kleefstra Syndrome 1
Motor stereotypy, Hearing impairment, Abnormal pinna morphology OMIM:610253
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, EEG with continuous slow activity, Fasciculations, Upper motor neuron dysfuncti... ORPHA:275864
Transketolase Deficiency
Motor stereotypy, Hearing impairment ORPHA:488618
Smith-Magenis Syndrome
Motor stereotypy, Conductive hearing impairment, EEG abnormality, Chronic otitis media, Impaired ... ORPHA:819
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity OMIM:618917
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity OMIM:612069
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with photoparoxysmal response, Motor stereotypy, Ataxia, Cortical myoclonus, EEG with spike-w... ORPHA:168491
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Recurrent hand flapping, Stereotypical body rocking, Stereotypical hand... OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Pain insensitivity, Overfolded helix, Tremor, Macrotia OMIM:617061
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... OMIM:216400
48,Xxyy Syndrome
Motor stereotypy, Tremor, Ataxia, Chronic otitis media ORPHA:10
5Q14.3 Microdeletion Syndrome
Motor stereotypy, Optic nerve hypoplasia ORPHA:228384
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Continuous spike and waves during slow sleep, Head tremor, EEG with occ... OMIM:619428
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Optic atrophy, Progressive spasticity, Spasticity, Macrotia,... ORPHA:496641
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Hypertonia, Motor stereotypy, Macrotia, Posteriorly rotated ears OMIM:212066
Phelan-Mcdermid Syndrome
Motor stereotypy, Protruding ear, Tongue thrusting, Impaired pain sensation, Macrotia, Hearing im... OMIM:606232
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Progressive ... ORPHA:247815
Pyruvate Dehydrogenase E2 Deficiency
Oculomotor apraxia, Ataxia, Choreoathetosis, Jerky head movements OMIM:245348
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Limb hypertonia ORPHA:401973
Blepharophimosis-Impaired Intellectual Development Syndrome
Motor stereotypy, Low-set ears, Posteriorly rotated ears OMIM:619293
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm1 Gangliosidosis Type 1
Hirsutism, Exaggerated startle response, Aspiration pneumonia, Increased urinary galactosylated o... ORPHA:79255
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Babinski sign, Prominent antihelix, Spasticity, Macrotia OMIM:615802
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Underfolded superior helices, Speech apraxia, Spasticity, Aganglion... OMIM:300352
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Hepatosplenomegaly, Urinary ... OMIM:268800
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Low-set ears, Focal polymicrogyria OMIM:619103
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Recurrent otitis media, Recurrent hand flapping, Macrotia ORPHA:449291
White-Sutton Syndrome
Sensorineural hearing impairment, Motor stereotypy, Optic nerve hypoplasia, Tics, Abnormality of ... OMIM:616364
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Periventricular heterotopia, Thin ear helix, Optic nerve hypoplasia... ORPHA:468631
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Low-set, posteriorly rotated ears OMIM:615873
Rett Syndrome
Motor stereotypy, EEG abnormality, Bradykinesia, Abnormal autonomic nervous system physiology, St... ORPHA:778
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Protruding ear, Myoclonic spasms, Hypsarrhythmia, Clonus, Low-set e... ORPHA:447997
2Q37 Microdeletion Syndrome
Motor stereotypy, Conductive hearing impairment ORPHA:1001
White-Sutton Syndrome
Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, Incoordination, Optic atroph... ORPHA:468678
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy ORPHA:313892
Rauch-Steindl Syndrome
Motor stereotypy, Protruding ear, Prominent crus of helix, Attached earlobe OMIM:619695
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity OMIM:600795
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Low-set ears, Ataxia ORPHA:457279
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Chorea, Spasticity, Bilateral generalized polymicrogyria, Eyelid myoclonus ORPHA:178469
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Sensorineural hearing impairment, Motor stereotypy, Microtia, Spasticity, Low-set ears, Posterior... OMIM:301040
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Spastic ataxia OMIM:618906
Pitt-Hopkins Syndrome
Motor stereotypy, Cupped ear, Gait ataxia, Incoordination, Thickened helices OMIM:610954
Kleefstra Syndrome
Motor stereotypy, Hearing impairment, Chronic otitis media, Thickened helices ORPHA:261494
Asparagine Synthetase Deficiency
Exaggerated startle response, Hypsarrhythmia, Macrotia OMIM:615574
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Low-set ears, Ataxia OMIM:616393
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Recurrent otitis media OMIM:619575
7Q11.23 Microduplication Syndrome
Large earlobe, Motor stereotypy, Dysmetria, Overfolded helix, Low-set, posteriorly rotated ears, ... ORPHA:96121
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, EEG abnormality, Spasticity OMIM:610042
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Myoclonus, Cerebral palsy, Chorea OMIM:617600
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, EEG with spike-wave complexes, Jerky head movements, EEG with generalized sharp slo... ORPHA:369837
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Ataxia, Pain insensitivity, Dysmetria, Overfolded helix, Truncal ataxia, Small ... OMIM:617330
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Low-set, posteriorly rotated ears OMIM:618598
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, EEG abnormality, EEG with spike-wave complexes, EEG with focal sharp wa... ORPHA:522077
Retinitis Pigmentosa
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy ORPHA:791
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy OMIM:615637
Autism, Susceptibility To, 3
Motor stereotypy, EEG abnormality OMIM:608049
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Plaa-Associated Neurodevelopmental Disorder
Sensorineural hearing impairment, Hirsutism, Exaggerated startle response, Low-set, posteriorly r... ORPHA:521426
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Recurrent hand flapping, Low-set ears, Posteriorly rotated ears OMIM:615485
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
EEG with focal spikes, Motor stereotypy, Increased theta frequency activity in EEG, Involuntary m... ORPHA:98784
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Aspiration pneumonia, Optic atrophy, Tremor, He... ORPHA:845
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Norrie Disease
Sensorineural hearing impairment, Hypertonia, Protruding ear, EEG abnormality, Abnormal helix mor... ORPHA:649
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Pain insensitivity OMIM:618825
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Legius Syndrome
Hearing impairment, Vestibular schwannoma ORPHA:137605
Bilateral Generalized Polymicrogyria
Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus ORPHA:208447
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ataxia, Isometric tremor, Otitis media, Tics, Spasticity, Hypsarrhythmia, Hypertonia, Intention t... OMIM:619475
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Stereotypical body rocking, Abnormal Eustachian tube morphology, Gait ataxia, R... ORPHA:513456
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Long eyelashes, Exaggerated startle response OMIM:617301
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia ORPHA:228402
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Paraplegia, Ataxia ORPHA:927
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, EEG with parietal focal spikes, EEG with occipital focal spikes, Recurrent otit... OMIM:301066
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Sensorineural hearing impairment, Motor stereotypy, Optic atrophy, Macrotia, Low-set ears, Poster... OMIM:619512
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Motor stereotypy, ... ORPHA:580
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping OMIM:300986
Galloway-Mowat Syndrome 6
Motor stereotypy OMIM:618347
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Low-set ears, Protruding ear, Poor coordination, Spastic diplegia, Cupped ear, ... OMIM:309590
Schinzel-Giedion Syndrome
Large earlobe, Hypertonia, Abnormal helix morphology, Infantile sensorineural hearing impairment,... ORPHA:798
Childhood Absence Epilepsy
EEG with spike-wave complexes (2.5-3.5 Hz), Jerky head movements, Punding, Limb myoclonus ORPHA:64280
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, External ear malformation, Exaggerated startle response ORPHA:438216
Shukla-Vernon Syndrome
Motor stereotypy OMIM:301029
Nmda Receptor Encephalitis
Motor stereotypy, Abnormal autonomic nervous system physiology, Opisthotonus, Orthostatic hypoten... ORPHA:217253
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hirsutism, Exaggerated startle response, Optic atrophy, Low-set ears, Posteriorly rotated ears OMIM:617527
Developmental And Epileptic Encephalopathy 100
EEG with photoparoxysmal response, Motor stereotypy, Myoclonus, Chorea, Polymicrogyria, Choreoath... OMIM:619777
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Protruding ear, Microtia, Unilateral vocal cord paralysis, Spasticity OMIM:301030
Kinsship Syndrome
Spastic tetraparesis, Low-set ears, Motor stereotypy, Myoclonus OMIM:619297
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Optic disc pallor, Protruding ear, Abnormality of neuronal migration ORPHA:464311
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Hearing i... ORPHA:508498
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Protruding ear, Ataxia, Poor gross motor coordination, Dysmetria, Hand tremor, ... OMIM:614756
Wiedemann-Steiner Syndrome
Motor stereotypy, Low-set ears ORPHA:319182
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, EEG abnormality, Overfolded helix, Hypsarrhythmia, Spastic tetrapar... OMIM:301044
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Hypsarrhythmia, EEG with generalized slow activity OMIM:300672
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overfolded helix, Low-set ears, Motor stereotypy OMIM:618653
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy OMIM:617044
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Optic disc pallor, Protruding ear, Macrotia ORPHA:464306
Coffin-Siris Syndrome 12
Large earlobe, Sensorineural hearing impairment, Protruding ear, Motor stereotypy, Facial palsy, ... OMIM:619325
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4