Gene Summary

Name:
solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
Synonyms:
NCBE

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
hyperactivity Slc4a10tm1b(KOMP)Wtsi HOM Early adult 7.04×10-06
increased startle reflex Slc4a10tm1b(KOMP)Wtsi HOM Early adult 5.17×10-07
abnormal auditory brainstem response Slc4a10tm1b(KOMP)Wtsi HOM   Early adult 9.71×10-07
decreased locomotor activity Slc4a10tm1b(KOMP)Wtsi HOM   Early adult 9.42×10-05
increased hemoglobin content Slc4a10tm1b(KOMP)Wtsi HOM Early adult 1.29×10-06
small spleen Slc4a10tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased bone mineral content Slc4a10tm1b(KOMP)Wtsi HOM Early adult 7.12×10-05
abnormal gait Slc4a10tm1b(KOMP)Wtsi HOM Early adult 4.40×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount 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)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
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)
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)
Oral epithelium 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)
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 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle 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)
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)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote 100% (1 of 1)
Ear N/A heterozygote Not available
Ear N/A homozygote Not available
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 1)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote 0.0% (0 of 1)
Forebrain N/A homozygote 0.0% (0 of 1)
Forelimb N/A heterozygote 0.0% (0 of 1)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 1)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote 100% (1 of 1)
Heart N/A heterozygote Not available
Heart N/A homozygote Not available
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote 100% (1 of 1)
Hindlimb N/A heterozygote 0.0% (0 of 1)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote Not available
Mandibular process N/A homozygote Not available
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 1)
Midbrain N/A homozygote 0.0% (0 of 1)
Oral cavity N/A heterozygote Not available
Oral cavity N/A homozygote Not available
Skin N/A heterozygote Not available
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail somite N/A homozygote 0.0% (0 of 1)
Tail N/A heterozygote 0.0% (0 of 1)
Tail N/A homozygote 0.0% (0 of 1)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.77% (4 of 517)
aorta 0.19% (1 of 522)
bone 0.0%
brain 0.78% (4 of 512)
brainstem 0.4% (2 of 503)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 527)
cerebral cortex 0.2% (1 of 497)
esophagus 1.41% (5 of 354)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 510)
hippocampus 0.58% (3 of 516)
hypothalamus 0.2% (1 of 509)
kidney 3.02% (15 of 497)
large intestine 1.96% (10 of 511)
liver 0.0%
lower urinary tract 0.2% (1 of 502)
lung 0.39% (2 of 512)
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.2% (1 of 512)
oral epithelium 0.0%
ovary 0.19% (1 of 523)
oviduct 0.0%
pancreas 0.96% (5 of 520)
parathyroid gland 0.21% (1 of 480)
peripheral nervous system 0.4% (2 of 505)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.14% (11 of 515)
skeletal muscle 0.0%
skin 0.19% (1 of 513)
small intestine 1.37% (7 of 511)
spinal cord 0.58% (3 of 518)
spleen 0.59% (3 of 511)
stomach 2.51% (13 of 517)
striatum 0.39% (2 of 510)
testis 0.98% (5 of 511)
thymus 0.19% (1 of 513)
thyroid gland 3.08% (16 of 519)
trachea 0.59% (3 of 510)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.5% (6 of 400)
ear 0.26% (1 of 392)
embryo 0.0%
eye 0.26% (1 of 392)
footplate 0.25% (1 of 397)
forebrain 0.0%
forelimb 0.25% (1 of 399)
handplate 0.25% (1 of 404)
head 1.04% (4 of 383)
heart 0.25% (1 of 403)
hindbrain 1.22% (5 of 410)
hindlimb 0.0%
liver 0.0%
lung 0.26% (1 of 389)
mandibular process 0.26% (1 of 391)
maxillary process 0.0%
midbrain 0.25% (1 of 401)
oral cavity 0.24% (1 of 415)
skin 0.25% (1 of 396)
tail 0.0%
tail somite group 0.25% (1 of 401)

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

12 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Echo

M-Mode Images

20 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Slc4a10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc4a10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Dominant 73
Hearing impairment OMIM:617663
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 89
Hearing impairment OMIM:613916
Deafness, Autosomal Recessive 112
Progressive hearing impairment OMIM:618257
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 74
Hearing impairment OMIM:618140
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration
Hearing impairment OMIM:614934
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
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 Recessive 102
Profound hearing impairment OMIM:615974
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 Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Recessive 84B
Hearing impairment, Vestibular hypofunction OMIM:614944
Deafness, Autosomal Recessive 1B
Vestibular dysfunction, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Vestibular dysfunction, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Progressive hearing impairment, Vestibular dysfunction OMIM:616044
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Deafness, Autosomal Recessive 30
Progressive sensorineural hearing impairment, Progressive hearing impairment OMIM:607101
Deafness, Autosomal Recessive 29
Sensorineural hearing impairment, Hearing impairment OMIM:614035
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia
Hearing impairment OMIM:615266
Usher Syndrome, Type Id
Vestibular dysfunction, Hearing impairment OMIM:601067
Deafness, Mid-Tone Neural
Progressive hearing impairment, Sensorineural hearing impairment OMIM:124700
Deafness, X-Linked 4
High-frequency hearing impairment, Sensorineural hearing impairment OMIM:300066
Deafness, Autosomal Dominant 49
Progressive hearing impairment, Sensorineural hearing impairment OMIM:608372
Facial Paresis, Hereditary Congenital, 2
Hearing impairment OMIM:604185
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Vestibular dysfunction OMIM:618094
Deafness, Autosomal Recessive 7
Vestibular dysfunction, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Vestibular dysfunction OMIM:220290
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Vestibular dysfunction OMIM:619500
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Vestibular dysfunction OMIM:617605
Deafness, Autosomal Recessive 94
Vestibular dysfunction, Bilateral sensorineural hearing impairment OMIM:618434
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 77
Bilateral sensorineural hearing impairment OMIM:613079
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 12
Prelingual sensorineural hearing impairment OMIM:601386
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 111
Progressive sensorineural hearing impairment OMIM:618145
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
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 3
Profound sensorineural hearing impairment OMIM:600316
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Recessive 40
Prelingual sensorineural hearing impairment OMIM:608264
Deafness, Autosomal Recessive 39
Prelingual sensorineural hearing impairment OMIM:608265
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Recessive 71
Prelingual sensorineural hearing impairment OMIM:612789
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Recessive 62
Prelingual sensorineural hearing impairment OMIM:610143
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Recessive 101
Bilateral sensorineural hearing impairment OMIM:615837
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Dominant 78
Profound sensorineural hearing impairment OMIM:619081
Deafness, Autosomal Dominant 79
Progressive sensorineural hearing impairment OMIM:619086
Deafness, Autosomal Recessive 49
Prelingual sensorineural hearing impairment OMIM:610153
Deafness, Autosomal Recessive 44
Prelingual sensorineural hearing impairment OMIM:610154
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Recessive 38
Prelingual sensorineural hearing impairment OMIM:608219
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 35
Sensorineural hearing impairment OMIM:608565
Deafness, Autosomal Recessive 46
Profound sensorineural hearing impairment OMIM:609647
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 77
Sensorineural hearing impairment OMIM:618915
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment OMIM:616515
Deafness, Autosomal Recessive 15
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Dominant 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
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 Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, Autosomal Dominant 25
Sensorineural hearing impairment OMIM:605583
Deafness, Autosomal Recessive 51
Sensorineural hearing impairment OMIM:609941
Deafness, X-Linked 1
Sensorineural hearing impairment OMIM:304500
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Deafness, Autosomal Recessive 2
Vestibular dysfunction, Sensorineural hearing impairment, Vertigo OMIM:600060
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Progressive hearing impairment, Sensorineural hearing impairment, Low-frequency hearing loss OMIM:124900
Polymicrogyria, Bilateral Temporooccipital
Ventriculomegaly, Aggressive behavior, Focal impaired awareness seizure, Polymicrogyria, Seizure,... OMIM:612691
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus, Hearing impairment OMIM:608224
Severe Primary Trimethylaminuria
Anxiety, Negative affectivity, Aggressive behavior, Emotional lability, Low self esteem, Depression ORPHA:468726
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Sensorineural hearing impairment, Progressive sensorineural heari... OMIM:613074
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
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, Autosomal Dominant 43
Tinnitus, Sensorineural hearing impairment OMIM:608394
Deafness, Y-Linked 1
Tinnitus, Sensorineural hearing impairment OMIM:400043
Deafness, Autosomal Dominant 33
Tinnitus, Sensorineural hearing impairment OMIM:614211
Deafness, Autosomal Dominant 72
Tinnitus, Sensorineural hearing impairment OMIM:617606
Sinoatrial Node Dysfunction And Deafness
Hearing impairment OMIM:614896
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Deafness, Autosomal Dominant 16
Tinnitus, Adult onset sensorineural hearing impairment OMIM:603964
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Hyperactivity, Inability to walk, Gait disturbance, Tremor OMIM:618090
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Otosclerosis 7
Progressive hearing impairment, Childhood onset sensorineural hearing impairment, Conductive hear... OMIM:611572
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality, Low-set ears ORPHA:436151
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Ataxia, Abnorma... ORPHA:320401
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity, Osteopenia OMIM:608747
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Dystonia, Shuffling gait, Focal dystonia, Preling... ORPHA:52368
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
High-frequency hearing impairment, Bilateral sensorineural hearing impairment, Tinnitus OMIM:605594
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Progressive hearing impairment, Tinnitus OMIM:193005
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Gait d... OMIM:125250
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Hyperactivity, Hepatomegaly, Ataxia, Tremor OMIM:615924
Hyperprolinemia, Type I
Hyperactivity, EEG abnormality, Ataxia OMIM:239500
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Gai... OMIM:601455
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Broad-based gait, Tremor OMIM:619470
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Female Restricted Epilepsy With Intellectual Disability
Atypical absence seizure, Atonic seizure, Complex febrile seizure, Anxiety, Generalized myoclonic... ORPHA:101039
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Bart-Pumphrey Syndrome
Hearing impairment OMIM:149200
Deafness, Autosomal Recessive 103
Vestibular areflexia, Vestibular dysfunction, Sensorineural hearing impairment OMIM:616042
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Tremor, Ataxia, Optic atrophy OMIM:300983
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Tremor, Ataxia, Decreased nerve conduction veloci... ORPHA:206443
Juvenile Huntington Disease
Dystonia, Hyperactivity, Bradykinesia, Ataxia, Progressive cerebellar ataxia, Gait ataxia, Broad-... ORPHA:248111
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Falls, Hyperactivity ORPHA:2382
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Hepat... ORPHA:848
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Childhood Disintegrative Disorder
Progressive language deterioration, Anxiety, Dementia, Motor deterioration, Mental deterioration,... ORPHA:168782
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cln5 Disease
EEG with generalized slow activity, Dysmetria, Hyperactivity, Inability to walk, Ataxia, EEG with... ORPHA:228360
Pandas
Abnormal fear/anxiety-related behavior, Emotional lability, Irritability, Separation insecurity, ... ORPHA:66624
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Tibia, Absence Of, With Congenital Deafness
Hearing impairment OMIM:275230
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
EEG abnormality, Low-set ears, Hyperactivity, Inability to walk, Tremor OMIM:618718
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Shuffling gait, Hyperactivity, Focal EEG discharges with secondary generalization... ORPHA:3077
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Attention deficit hyperactivity diso... OMIM:301008
Landau-Kleffner Syndrome
Hyperactivity, EEG with generalized epileptiform discharges, Steppage gait, Gait ataxia, Interict... ORPHA:98818
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Hyperactivity, Gait ataxia, Posteriorly rotated ears, Macrotia OMIM:609425
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Macrotia, Facial diplegia, Optic atrophy, Hearing impairment OMIM:617302
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:612716
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Rasmussen Subacute Encephalitis
EEG with focal epileptiform discharges, EEG with focal sharp slow waves, Interictal epileptiform ... ORPHA:1929
Autosomal Recessive Non-Syndromic Intellectual Disability
EEG with focal epileptiform discharges, Dystonia, Hyperactivity, EEG with generalized epileptifor... ORPHA:88616
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Spastic gait,... ORPHA:99027
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Osteopenia, Hepatosplenomegaly, Leukocytosis, Cirrhosis... ORPHA:231222
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Deafness, Unilateral
Unilateral deafness OMIM:125000
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, ... OMIM:618849
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Sensorineural hearing impairment, Head tremor, Inability to walk, Optic nerve hypopl... ORPHA:101085
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Ataxia, Absent brainstem auditory r... ORPHA:1215
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, Interictal epileptiform activity, EEG with irregular generali... ORPHA:1942
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, EEG abnormality, Ataxia, Broad-based gait ORPHA:411515
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Anxiety, Inappropriate behavior, Short stature, Postnatal growth retardatio... ORPHA:309246
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Head titubation, Absent brainstem auditory responses, Thrombocytopenia, Hyp... ORPHA:3240
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Hearing impairment OMIM:248510
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
EEG abnormality, Dystonia, Hyperactivity, Inability to walk, Gait ataxia ORPHA:500180
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity, EEG with polyspike wave complexes OMIM:617169
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Hyperactivity, Broad-based gait ORPHA:457260
Adult Krabbe Disease
EEG abnormality, Ataxia, Prolonged brainstem auditory evoked potentials, Gait disturbance, Broad-... ORPHA:206448
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Hyperactivity, Hepatomegaly, Ataxia, Limb dystonia, Gait ataxia, Cirrhosis, Tr... ORPHA:363400
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Craniosynostosis, Sensorineur... OMIM:201050
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, EEG abnormality, Ataxia OMIM:271980
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Optic disc pallor, Optic atrophy OMIM:609541
Myopathy With Extrapyramidal Signs
Leukocytosis, Dystonia, Hyperactivity, Splenomegaly, Ataxia, Hepatomegaly, Difficulty walking, Op... OMIM:615673
Cockayne Syndrome Type 1
Ataxia, Hepatomegaly, Anemia, Macrotia, Abnormality of peripheral nerve conduction, Gait disturba... ORPHA:90321
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Sensorineural hearing impairment, Autoimmune hemoly... ORPHA:760
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity, EEG with series of focal spikes, EEG with photoparoxysmal res... ORPHA:168491
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Beta-Thalassemia Major
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231214
Infantile Neuroaxonal Dystrophy
Dystonia, Hyperactivity, Abnormal autonomic nervous system physiology, Ataxia, Unsteady gait, Gai... ORPHA:35069
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Cholelithiasis, Osteopenia, Resting tremor, Dysto... ORPHA:909
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Ataxia OMIM:619260
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Difficulty walking, Optic atrophy, Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Ataxia, Exaggerated startle response OMIM:618598
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Hepatomegaly, Dense calvaria, Hearing impairment OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Hyperactivity, Broad-based gait OMIM:300958
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia ORPHA:621
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Unsteady gait OMIM:615516
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged neonatal jaundic... ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged neonatal jaundic... ORPHA:529808
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Low-set ears ORPHA:89844
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly, Hepatomegaly, Dense calvaria, Hearing impairment OMIM:252900
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hepatosplenomegaly, Portal hypertension, Sensorineural hearing impairment, Aganglionic megacolon,... OMIM:609136
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Sensorineural hearing impairment, Reduced beta/alpha synthesis ratio OMIM:609057
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Macrotia, Gait disturbance, Thickened helices OMIM:614104
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG abnormality, Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Gait imbalance, Bro... ORPHA:98794
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Neurodegeneration With Brain Iron Accumulation 2B
Dysmetria, Dystonia, Intention tremor, Hyperactivity, Bradykinesia, Gait ataxia, Dysdiadochokines... OMIM:610217
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
X-Linked Creatine Transporter Deficiency
Dystonia, Hyperactivity, Aganglionic megacolon, Athetosis, Ataxia ORPHA:52503
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity, Macrocytic anemia OMIM:614294
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, EEG abnormality, Ataxia OMIM:610042
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Splenomegaly, Hepatomegaly, Dense calvaria, Hearing impairment OMIM:252930
Intellectual Developmental Disorder, X-Linked 107
Prominent crus of helix, Hyperactivity, Macrotia, Abnormality of superior crus of antihelix, Atte... OMIM:301013
Cntnap2-Related Developmental And Epileptic Encephalopathy
EEG with generalized slow activity, Interictal epileptiform activity, Hyperactivity, Ataxia, EEG ... ORPHA:163681
Cockayne Syndrome A
Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairment, Splenomegaly, Ata... OMIM:216400
Gracile Bone Dysplasia
Hypoplastic spleen, Decreased skull ossification, Asplenia OMIM:602361
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Lethargy, Limb tremor, Exaggerated st... OMIM:608643
Mogs-Cdg
Hepatosplenomegaly, Dystonia, Sensorineural hearing impairment, Hepatomegaly, Absent brainstem au... ORPHA:79330
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Ost... ORPHA:73272
Cockayne Syndrome B
Ivory epiphyses of the phalanges of the hand, Sensorineural hearing impairment, Osteoporosis, Ata... OMIM:133540
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Hypsarrhythmia, EEG with burst suppression OMIM:619239
Angelman Syndrome
EEG abnormality, Hyperactivity, Limb tremor, Progressive gait ataxia, Broad-based gait OMIM:105830
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Macrotia, Attention deficit hyperactivity disorder OMIM:618504
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Microcytic anemia, HbH hem... ORPHA:98791
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Hepatomegaly, Ataxia, Exaggerated startle response OMIM:268800
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Radial club hand, Anemia, Lymphopenia, Thrombocytopenia OMIM:617053
Adenylosuccinase Deficiency
Opisthotonus, Low-set ears, Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Optic atrophy ORPHA:530983
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, External ear malformation, Exaggerated startle response, Broad-based gait ORPHA:438216
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Attention deficit hyperactivity disorder, Hyperactivity, Gait dis... ORPHA:43
Infantile Krabbe Disease
Opisthotonus, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials... ORPHA:206436
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Exocrine pancreatic insufficiency, Abnormality of the liver, He... ORPHA:699
Pediatric-Onset Graves Disease
Craniosynostosis, Hyperactivity, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia in presence of... ORPHA:525731
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Blepharospasm, Hyperactivity, Bradykinesia, Akinesia, Ataxia, Acanthocytosis, Gait dist... OMIM:234200
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 3
Exaggerated startle response OMIM:614618
X-Linked Cerebral Adrenoleukodystrophy
Dysmetria, Hyperactivity, Inability to walk, Ataxia, Gait disturbance, Difficulty walking, Hearin... ORPHA:139396
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Acute myeloid leukemia, Hepatomegaly, Irregular ... OMIM:260400
Tay-Sachs Disease
Dysmetria, Dystonia, Inability to walk, Laryngeal dystonia, Gait disturbance, Exaggerated startle... ORPHA:845
Hyperlysinemia
Dysmetria, Craniosynostosis, Opisthotonus, Hypoplasia of the antihelix, Hyperactivity, EEG with s... ORPHA:2203
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Bone Marrow Failure Syndrome 3
Pancytopenia, Exocrine pancreatic insufficiency, Cupped ear, Bone marrow hypocellularity, Hyperac... OMIM:617052
X-Linked Intellectual Disability, Cabezas Type
EEG abnormality, Hyperactivity, Abnormal earlobe morphology, Broad-based gait, Tremor ORPHA:85293
Blackfan-Diamond Anemia
Leukopenia, Low-set ears, Thrombocytosis, Erythroid hypoplasia, Microtia, Acute myeloid leukemia,... ORPHA:124
Trisomy 10P
Absent gallbladder, Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials... ORPHA:171929
Citrullinemia Type Ii
Hepatic steatosis, Hyperactivity, Hepatomegaly, Lethargy, Pancreatitis, Hepatocellular carcinoma,... ORPHA:247585
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, Microtia, HbH hemoglobin OMIM:141750
Lead Poisoning
Cranial hyperostosis, Abnormality of the autonomic nervous system, Imbalanced hemoglobin synthesi... ORPHA:330015
Mucopolysaccharidosis Type 3
Mixed hearing impairment, Craniofacial hyperostosis, Conductive hearing impairment, Sensorineural... ORPHA:581
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Low-set ears, Sensorineural hearing impairment, Microtia, HbH hemoglobin, Posteriorly rotated ear... OMIM:301040
Argininemia
Spastic gait, Cholestasis, Hyperactivity, Hepatomegaly, Portal fibrosis, Micronodular cirrhosis OMIM:207800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Sensorineural hearing impairment, Aganglionic megacolon, Anemia, Abnormal hemoglobin, Optic atrophy ORPHA:847
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids OMIM:619769
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen, Low-set ears OMIM:601186
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears ORPHA:401973
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Choreoacanthocytosis
Resting tremor, Lingual dystonia, Decreased amplitude of sensory action potentials, Hyperactivity... ORPHA:2388
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Early Infantile Epileptic Encephalopathy
EEG abnormality, Dystonia, Uni- and bilateral multifocal epileptiform discharges, Hyperactivity, ... ORPHA:1934
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Low-set ears, Macrotia, Exaggerated startle response, Hearing impairment ORPHA:79255
Legius Syndrome
Dystonia, Hearing impairment, Hyperactivity, Acute monocytic leukemia, Vestibular schwannoma, Att... ORPHA:137605
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Sensorineural hearing impairment, Low-set, posteriorly rotated ears, Exaggerated startl... ORPHA:521426
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Low-set ears, Exaggerated startle response OMIM:617301
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Dysmetria, Hand tremor, Low-set ears, Hyperactivity, Ataxia, Unsteady gait, Gait ataxi... OMIM:614756
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Low-set ears, Optic atrophy OMIM:617527
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Dystonia, Inability to walk, Osteoporosis, Anemia, Optic disc pallor, Exaggerated sta... ORPHA:438213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of the autonomic nervous system, Hyperactivity, Anemia, Orthostatic hypotension due t... ORPHA:642
Histidinemia
Hyperactivity ORPHA:2157
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Low-set ears, Microtia, Posteriorly rotated ears, Exaggerated startle response, At... OMIM:619522

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 Slc4a10

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 Slc4a10.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Slc4a10tm1b(KOMP)Wtsi PMC5638796

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MGI Allele Allele Type Produced
Slc4a10tm34451(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc4a10tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Slc4a10tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc4a10tm356009(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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