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
small spleen Slc4a10tm1b(KOMP)Wtsi HOM Early adult 0.00
increased hemoglobin content Slc4a10tm1b(KOMP)Wtsi HOM Early adult 9.98×10-07
decreased bone mineral content Slc4a10tm1b(KOMP)Wtsi HOM Early adult 6.33×10-05
abnormal gait Slc4a10tm1b(KOMP)Wtsi HOM Early adult 3.91×10-05
abnormal auditory brainstem response Slc4a10tm1b(KOMP)Wtsi HOM   Early adult 9.63×10-07
hyperactivity Slc4a10tm1b(KOMP)Wtsi HOM Early adult 2.43×10-06
decreased locomotor activity Slc4a10tm1b(KOMP)Wtsi HOM   Early adult 8.82×10-05
increased startle reflex Slc4a10tm1b(KOMP)Wtsi HOM Early adult 3.74×10-07

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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 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)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
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%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
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)
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)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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 1.17% (6 of 511)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Echo

M-Mode Images

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Embryo LacZ

LacZ images wholemount

8 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 Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
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
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
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 89
Hearing impairment OMIM:613916
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
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 Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment OMIM:616044
Deafness, Autosomal Recessive 25
Hearing impairment, Progressive sensorineural 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 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
Deafness, Autosomal Recessive 13
Sensorineural hearing impairment, Hearing impairment OMIM:603098
Deafness, Autosomal Recessive 57
Sensorineural hearing impairment, Hearing impairment OMIM:618003
Usher Syndrome, Type Id
Abnormal vestibular function, Hearing impairment OMIM:601067
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, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Recessive 74
Hearing impairment OMIM:613718
Facial Paresis, Hereditary Congenital, 2
Hearing impairment OMIM:604185
Keratoderma, Palmoplantar, With Deafness
Hearing impairment OMIM:148350
Deafness, Autosomal Recessive 110
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618094
Deafness, Autosomal Dominant 81
Sensorineural hearing impairment, Abnormal vestibular function OMIM:619500
Deafness, Autosomal Recessive 7
Sensorineural hearing impairment, Abnormal vestibular function OMIM:600974
Deafness, Autosomal Dominant 56
Sensorineural hearing impairment, Abnormal vestibular function OMIM:615629
Deafness, Autosomal Recessive 1A
Sensorineural hearing impairment, Abnormal vestibular function OMIM:220290
Deafness, Autosomal Dominant 71
Sensorineural hearing impairment, Abnormal vestibular function OMIM:617605
Deafness, Autosomal Dominant 74
Sensorineural hearing impairment, Abnormal vestibular function OMIM:618140
Deafness, Autosomal Recessive 84B
Vestibular hypofunction, Sensorineural hearing impairment OMIM:614944
Deafness, Autosomal Recessive 94
Abnormal vestibular function, Bilateral sensorineural hearing impairment OMIM:618434
Fibromatosis, Gingival, 1
Hearing impairment OMIM:135300
Deafness, Autosomal Recessive 2
Vertigo, Sensorineural hearing impairment, Abnormal vestibular function OMIM:600060
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
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 Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal Dominant 4A
Progressive sensorineural hearing impairment OMIM:600652
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
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 Recessive 113
Sensorineural hearing impairment OMIM:618410
Deafness, Autosomal Dominant 40
Sensorineural hearing impairment OMIM:616357
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 45
Prelingual sensorineural hearing impairment OMIM:612433
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 Dominant 5
Progressive sensorineural hearing impairment OMIM:600994
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
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 Dominant 76
Sensorineural hearing impairment OMIM:618787
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 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 Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Dominant 6
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 24
Profound sensorineural hearing impairment OMIM:611022
Deafness, Autosomal Recessive 83
Prelingual sensorineural hearing impairment OMIM:613685
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
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 70
Progressive sensorineural hearing impairment OMIM:616968
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 22
Sensorineural hearing impairment, Progressive sensorineural hearing impairment OMIM:606346
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Recessive 76
Progressive sensorineural hearing impairment OMIM:615540
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Sensorineural hearing impairment, Progressive 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 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, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Recessive 28
Severe sensorineural hearing impairment OMIM:609823
Deafness, Autosomal Dominant 3A
Sensorineural hearing impairment OMIM:601544
Deafness, Autosomal Recessive 16
Sensorineural hearing impairment OMIM:603720
Deafness, Autosomal Dominant 12
Sensorineural hearing impairment OMIM:601543
Deafness, Autosomal Recessive 85
Prelingual sensorineural hearing impairment OMIM:613392
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment OMIM:607084
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 Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
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 70, With Or Without Adult-Onset Neurodegeneration
Abnormal vestibular function, Hearing impairment OMIM:614934
Cochleosaccular Degeneration With Progressive Cataracts
Hearing impairment OMIM:120040
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Ventriculomegaly, Status ep... OMIM:612691
Meniere Disease
Hearing impairment, Tinnitus, Vertigo OMIM:156000
Deafness, Autosomal Dominant 41
Hearing impairment, Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Deafness, Autosomal Dominant 58
Hearing impairment, Tinnitus OMIM:615654
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Hepatomegaly, Abnormal bone structure, Splenomegaly ORPHA:46532
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Developmental And Epileptic Encephalopathy 9
Aggressive behavior, Ventriculomegaly, Focal-onset seizure, Generalized myoclonic seizure, Status... OMIM:300088
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Hyperactivity, EEG abnormality ORPHA:436151
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Schizophrenia 15
Hyperactivity OMIM:613950
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:320401
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Hypsarrhythmia, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Bilateral sensorineural hearing impairment, Tinnitus, High-frequency hearing impairment OMIM:605594
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... OMIM:617519
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Huntington Disease-Like 2
Inertia, Weight loss, Apathy, Dementia, Depression, Anxiety, Subcortical dementia, Irritability, ... OMIM:606438
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... OMIM:125250
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor OMIM:618090
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Gait disturbance, Heari... OMIM:601455
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Tremor, Broad-based gait, Optic atrophy OMIM:619470
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Hepatomegaly, Dystonia OMIM:615924
Hyperprolinemia, Type I
Ataxia, Hyperactivity, EEG abnormality OMIM:239500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Deafness, Autosomal Recessive 103
Vestibular areflexia, Sensorineural hearing impairment, Abnormal vestibular function OMIM:616042
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hyperlysinemia, Type I
Hyperactivity, Anemia OMIM:238700
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Gait disturbance, Ataxia... ORPHA:206443
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia OMIM:234500
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology OMIM:300983
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Lennox-Gastaut Syndrome
Hyperactivity, Falls, EEG abnormality, EEG with focal sharp slow waves ORPHA:2382
Juvenile Huntington Disease
Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-based gait, Br... ORPHA:248111
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Continuous spike and waves during slow sleep, Hyperactivity, Impulsivity, Attention deficit hyper... OMIM:301008
Childhood Disintegrative Disorder
Abnormal emotion/affect behavior, Social and occupational deterioration, Seizure, Motor deteriora... ORPHA:168782
Beta-Thalassemia
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... ORPHA:848
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Landau-Kleffner Syndrome
Gait ataxia, Hyperactivity, EEG with generalized epileptiform discharges, Interictal EEG abnormal... ORPHA:98818
Glycine Encephalopathy
Impulsivity, Hyperactivity, Lethargy, Restlessness OMIM:605899
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Gait ataxia, Hyperactivity, EEG abnormality, Inability to walk, Impulsivity, Dysphagia, Dystonia ORPHA:500180
Cln5 Disease
Hyperactivity, Inability to walk, Dysdiadochokinesis, Truncal ataxia, EEG with focal spikes, Mult... ORPHA:228360
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Choreoathetosis, Ataxia, Tremor, Dystonia OMIM:612716
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio OMIM:300448
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Hypochromic microcytic anemia, Head titubation, Vestibular a... ORPHA:3240
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Difficulty walking, Abnormal cranial nerve morphology,... OMIM:601596
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Polyc... OMIM:600501
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Resting tremor, Tremor, Broad-based gait, Focal EEG discharges wit... ORPHA:3077
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, EEG abnormality, Inability to walk, Tremor, Low-set ears OMIM:618718
Adult-Onset Autosomal Dominant Leukodystrophy
Gait ataxia, Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Sp... ORPHA:99027
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Ataxia ORPHA:382
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Increased theta frequency activity in EEG, EEG with focal spike... ORPHA:1929
Optic Atrophy 11
Hyperactivity, Macrotia, Splenomegaly, Gait apraxia, Optic atrophy, EEG with focal sharp waves, O... OMIM:617302
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Persistence of hemoglobin F, Macrocytic anemia, Increase... OMIM:300946
Beta-Thalassemia Intermedia
Cholelithiasis, Splenomegaly, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Ele... ORPHA:231222
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa... OMIM:618849
Leukodystrophy, Hypomyelinating, 13
Ataxia, Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, EEG abnormality, Ataxia, Polyphagia, Broad-based gait ORPHA:411515
Charcot-Marie-Tooth Disease Type 1F
Gait ataxia, Sensorineural hearing impairment, Inability to walk, Absent brainstem auditory respo... ORPHA:101085
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Absent brainstem aud... ORPHA:1215
Deafness, Unilateral
Unilateral deafness OMIM:125000
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear/anxiety-related behavior, Cognitive impairment, Seizure, Sh... ORPHA:309246
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Hereditary Methemoglobinemia
Methemoglobinemia, Limb dystonia, Athetosis ORPHA:621
Myoclonic-Astatic Epilepsy
Hyperactivity, EEG with polyspike wave complexes, Interictal epileptiform activity, Ataxia, EEG w... ORPHA:1942
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly ORPHA:163596
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Hearing impairment, Broad-based gait ORPHA:457260
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Truncal ataxia, Limb ataxia, Persistence of hemoglobin F, Broad-based gait, Low-set ears, Cupped ... OMIM:617101
Developmental And Epileptic Encephalopathy 103
Hyperactivity, EEG with polyspike wave complexes, EEG with burst suppression, Hypsarrhythmia, Ata... OMIM:619913
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic disc pallor, Optic atrophy, Inability to walk OMIM:609541
Adult Krabbe Disease
EEG abnormality, Gait disturbance, Ataxia, Prolonged brainstem auditory evoked potentials, Broad-... ORPHA:206448
Myopathy With Extrapyramidal Signs
Hyperactivity, Optic atrophy, Choreoathetosis, Ataxia, Tremor, Difficulty walking, Leukocytosis, ... OMIM:615673
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Hypoplastic spleen, Dysphagia ORPHA:89844
Infantile Neuroaxonal Dystrophy
Hyperactivity, Abnormality of peripheral nerve conduction, Optic atrophy, Abnormal autonomic nerv... ORPHA:35069
Acrocraniofacial Dysostosis
Craniosynostosis, Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineur... OMIM:201050
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Ataxia OMIM:619260
Cockayne Syndrome Type 1
Anemia, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem aud... ORPHA:90321
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic disc pallor, Difficulty walking, Optic atrophy ORPHA:320406
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Resting tremor, Abnormal auditory ... ORPHA:909
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Choreoathetosis, Inability to walk OMIM:620023
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Decreased mean corpus... ORPHA:231226
Neurodegeneration With Brain Iron Accumulation 2B
Gait ataxia, Hyperactivity, Optic atrophy, Dysdiadochokinesis, Impulsivity, Dysmetria, Dysphagia,... OMIM:610217
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment, Inability to walk OMIM:620114
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ... ORPHA:231214
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Gait imbalance, EEG abnormality, Ataxia, EEG with abnormally slow frequencies, Tre... ORPHA:98794
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Abnormal T cell morphology, Sensorineural hearing impairment, Lymphopenia, Autoimm... ORPHA:760
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia, Hypoplastic spleen OMIM:185070
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, Agitation, Truncal titubation, Dysmetria, Tremor OMIM:618056
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Prolonged neonatal jaundice, Sensorineural hearing impairmen... ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Prolonged neonatal jaundice, Sensorineural hearing impairmen... ORPHA:529799
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with generalized slow activity grade 4, Hyperactivity, EEG with series of focal spikes, Inabi... ORPHA:168491
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Exaggerated startle response, Ataxia, Posteriorly rotated ears OMIM:618598
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... OMIM:608643
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Splenomegaly, Dense calvaria, Hepatomegaly, Hearing impairment OMIM:252920
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Macrotia, Inability to walk, Optic nerve hypoplasia, EEG with gener... OMIM:617864
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Splenomegaly, Dense calvaria, Hepatomegaly, Hearing impairment OMIM:252900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... OMIM:619313
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Tay-Sachs Disease
Exaggerated startle response, Optic atrophy, Inability to walk, Gait disturbance, Hepatosplenomeg... ORPHA:845
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Decreased skull ossification OMIM:602361
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Hepatosplen... ORPHA:79330
Sandhoff Disease
Exaggerated startle response, Ataxia, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension OMIM:268800
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Ivory epiph... OMIM:216400
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Dense calvaria, Hearing impairment, Hepatomegaly, Dysphagia, Splenomegaly OMIM:252930
X-Linked Creatine Transporter Deficiency
Hyperactivity, Aganglionic megacolon, Ataxia, Athetosis, Dystonia ORPHA:52503
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Attention deficit hyperactivity disorder, EEG abnormality OMIM:610042
X-Linked Adrenoleukodystrophy
Hyperactivity, Progressive hearing impairment, Gait disturbance, Attention deficit hyperactivity ... ORPHA:43
Cockayne Syndrome B
Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potential... OMIM:133540
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Ataxia, External ear malformation, Dystonia, Broad-based gait ORPHA:438216
Mirage Syndrome
Leukopenia, Anemia, Radial club hand, Lymphopenia, Thrombocytopenia, Hypoplastic spleen OMIM:617053
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, HbH hemoglobin, Microcytic anemia, Aplasia/Hypoplasia of the e... ORPHA:98791
Pearson Syndrome
Anemia, Abnormality of the liver, Macronodular cirrhosis, Reticulocytosis, Pancytopenia, Hypoplas... ORPHA:699
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Blepharospasm, Bradykinesia, Optic atrophy, Akinesia, Choreoathetosis, Gait distur... OMIM:234200
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerve conduction velocit... ORPHA:206436
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment, Osteopenia OMIM:608747
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Stiff-Person Syndrome
Anemia, Exaggerated startle response, Opisthotonus OMIM:184850
Lead Poisoning
Anemia, Abnormal T cell morphology, Abnormality of the autonomic nervous system, Imbalanced hemog... ORPHA:330015
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Trisomy 10P
Absent gallbladder, Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes,... ORPHA:171929
Asparagine Synthetase Deficiency
EEG with burst suppression, Hypsarrhythmia, Exaggerated startle response, Macrotia OMIM:615574
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Pancytopenia, Persis... OMIM:260400
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Sensorineural hearing impairment, HbH hemoglobin, Low-set ears, Prolonged neonatal jaundice, Opti... ORPHA:423479
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Microtia, Pure red cell aplasia, Erythroid... ORPHA:124
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Exaggerated startle response, Optic atrophy, Dysphagia OMIM:617301
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Sensorineural hearing impairment, Optic atrophy, Hypsarrhythmia, Im... ORPHA:521426
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Macrotia, Hepatosplenomegaly, Low-set ears, Dystonia, Hearing impai... ORPHA:79255
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Argininemia
Hyperactivity, Spastic gait, Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hepatomegaly OMIM:207800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Sensorineural hearing impairment, Optic atrophy, Aganglionic megacolon, Abnormal hemoglobin ORPHA:847
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity, Low-set ears ORPHA:401973
Choreoacanthocytosis
Hyperactivity, Blepharospasm, Bradykinesia, Falls, Resting tremor, Lingual dystonia, Abnormal aut... ORPHA:2388
Microphthalmia, Syndromic 9
Low-set ears, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Sensorineural hearing impairment, Reduced alpha/beta synthesis ratio, Microtia, Hypochromic micro... OMIM:301040
Thymoma
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia ORPHA:99867
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Dysphagia, Low-set ears, Posteriorly rotated ears OMIM:617527
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Exaggerated startle response, Inability to walk, Broad-based gait, Osteopenia, Dysphagia,... ORPHA:438213
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Small earlobe, Exaggerated startle response, Microtia, Attention deficit hyperactivity disorder, ... 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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