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Gene: Adgrv1 MGI:1274784

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Gene Summary

Name:
adhesion G protein-coupled receptor V1
Synonyms:
Gpr98,  Mass1,  VLGR1,  Mgr1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Adgrv1tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased prepulse inhibition Adgrv1tm1.1(KOMP)Vlcg HOM Early adult 9.19×10-21
decreased startle reflex Adgrv1tm1.1(KOMP)Vlcg HOM   Early adult 7.01×10-05
abnormal auditory brainstem response Adgrv1tm1.1(KOMP)Vlcg HOM   Early adult 2.22×10-06
short tibia Adgrv1tm1.1(KOMP)Vlcg HOM Early adult 6.65×10-05
small testis Adgrv1tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal startle reflex Adgrv1tm1.1(KOMP)Vlcg HOM Early adult 1.07×10-08
hyperactivity Adgrv1tm1.1(KOMP)Vlcg HOM   Early adult 6.06×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Section

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

Human diseases caused by Adgrv1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Adgrv1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Usher Syndrome Type 2
Myopia, Scotoma, Visual loss, Sensorineural hearing impairment, Abnormality of the inner ear, Nyc... ORPHA:231178

The table below shows human diseases predicted to be associated to Adgrv1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Aminoglycoside-Induced
Aminoglycoside-induced hearing loss OMIM:580000
Deafness, Autosomal Dominant 17
High-frequency hearing impairment OMIM:603622
Deafness, Autosomal Dominant 7
High-frequency hearing impairment OMIM:601412
Deafness, Autosomal Dominant 2B
High-frequency hearing impairment OMIM:612644
Deafness, Autosomal Recessive 102
Profound hearing impairment OMIM:615974
Deafness, Autosomal Recessive 91
Progressive hearing impairment OMIM:613453
Deafness, Autosomal Dominant 18
Progressive hearing impairment OMIM:606012
Tune Deafness
Hearing impairment OMIM:191200
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 55
Hearing impairment OMIM:609952
Deafness, Autosomal Recessive 47
Hearing impairment OMIM:609946
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Auditory Neuropathy, Autosomal Dominant 3
Abnormal speech discrimination, Hearing impairment OMIM:619832
Deafness, Autosomal Recessive 1B
Abnormal vestibular function, Hearing impairment OMIM:612645
Deafness, Autosomal Recessive 84A
Abnormal vestibular function, Hearing impairment OMIM:613391
Deafness, Autosomal Dominant 65
Abnormal vestibular function, Progressive hearing impairment 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
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Deafness, Autosomal Dominant 81
Abnormal vestibular function, Sensorineural hearing impairment OMIM:619500
Deafness, Autosomal Dominant 74
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618140
Deafness, Autosomal Recessive 110
Abnormal vestibular function, Sensorineural hearing impairment OMIM:618094
Deafness, Autosomal Recessive 7
Abnormal vestibular function, Sensorineural hearing impairment OMIM:600974
Deafness, Autosomal Dominant 56
Abnormal vestibular function, Sensorineural hearing impairment OMIM:615629
Deafness, Autosomal Recessive 1A
Abnormal vestibular function, Sensorineural hearing impairment OMIM:220290
Deafness, Autosomal Dominant 71
Abnormal vestibular function, Sensorineural hearing impairment OMIM:617605
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Dominant 20
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:604717
Deafness, Autosomal Dominant 6
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment OMIM:600965
Deafness, Autosomal Recessive 77
Bilateral sensorineural hearing impairment OMIM:613079
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment OMIM:618013
Deafness, Autosomal Dominant 3B
Adult onset sensorineural hearing impairment OMIM:612643
Deafness, Autosomal Recessive 63
Congenital sensorineural hearing impairment OMIM:611451
Deafness, Autosomal Dominant 31
Old-aged sensorineural hearing impairment OMIM:608645
Deafness, Autosomal Dominant 83
Bilateral sensorineural hearing impairment OMIM:619808
Deafness, X-Linked 3
Congenital sensorineural hearing impairment OMIM:300030
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Deafness, Autosomal Recessive 15
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment OMIM:601869
Deafness, Autosomal Recessive 79
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:613307
Deafness, Autosomal Dominant 22
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:606346
Deafness, Sensorineural, Autosomal-Mitochondrial Type
Progressive sensorineural hearing impairment, Sensorineural hearing impairment OMIM:221745
Deafness, Autosomal Recessive 67
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment OMIM:610265
Deafness, Autosomal Dominant 73
Sensorineural hearing impairment OMIM:617663
Deafness, Autosomal Dominant 69
Sensorineural hearing impairment OMIM:616697
Deafness, Autosomal Recessive 17
Sensorineural hearing impairment OMIM:603010
Deafness, Autosomal Recessive 8
Sensorineural hearing impairment OMIM:601072
Deafness, Autosomal Recessive 26
Sensorineural hearing impairment OMIM:605428
Deafness, Autosomal Dominant 48
Sensorineural hearing impairment OMIM:607841
Deafness, Autosomal 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, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers
Sensorineural hearing impairment OMIM:214370
Deafness, Autosomal Recessive 100
Sensorineural hearing impairment OMIM:618422
Deafness, Autosomal Dominant 76
Sensorineural hearing impairment OMIM:618787
Deafness, Autosomal Recessive 14
Sensorineural hearing impairment OMIM:603678
Deafness, Autosomal Recessive 114
Sensorineural hearing impairment OMIM:618456
Deafness, Autosomal Recessive 115
Sensorineural hearing impairment OMIM:618457
Deafness, Autosomal Recessive 99
Sensorineural hearing impairment OMIM:618481
Deafness, Autosomal Recessive 27
Sensorineural hearing impairment OMIM:605818
Deafness, Autosomal Recessive 112
Sensorineural hearing impairment OMIM:618257
Deafness, Autosomal Recessive 68
Sensorineural hearing impairment OMIM:610419
Deafness, Autosomal Recessive 21
Sensorineural hearing impairment OMIM:603629
Deafness, Y-Linked 2
Sensorineural hearing impairment OMIM:400047
Deafness, Autosomal Dominant 10
Sensorineural hearing impairment OMIM:601316
Deafness, Autosomal Recessive 120
Sensorineural hearing impairment OMIM:620238
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 31
Sensorineural hearing impairment OMIM:607084
Deafness, Autosomal Recessive 66
Sensorineural hearing impairment OMIM:610212
Deafness, Autosomal Recessive 5
Sensorineural hearing impairment OMIM:600792
Deafness, Autosomal Recessive 59
Sensorineural hearing impairment OMIM:610220
Deafness, Autosomal Dominant 59
Sensorineural hearing impairment OMIM:612642
Deafness, Autosomal Recessive 61
Sensorineural hearing impairment OMIM:613865
Deafness, Autosomal Dominant 13
Sensorineural hearing impairment OMIM:601868
Deafness, Autosomal Recessive 117
Sensorineural hearing impairment OMIM:619174
Deafness, Autosomal Recessive 22
Sensorineural hearing impairment OMIM:607039
Deafness, Autosomal Dominant 27
Sensorineural hearing impairment OMIM:612431
Deafness, Autosomal Recessive 98
Sensorineural hearing impairment OMIM:614861
Deafness, Autosomal Dominant 21
Sensorineural hearing impairment OMIM:607017
Deafness, Autosomal Recessive 116
Sensorineural hearing impairment OMIM:619093
Deafness, Autosomal Dominant 68
Sensorineural hearing impairment OMIM:616707
Deafness, Autosomal Recessive 97
Sensorineural hearing impairment OMIM:616705
Deafness, Autosomal Recessive 23
Sensorineural hearing impairment OMIM:609533
Deafness, Autosomal Recessive 42
Sensorineural hearing impairment OMIM:609646
Intellectual Developmental Disorder, X-Linked 46
Sensorineural hearing impairment OMIM:300436
Deafness, Autosomal Dominant 66
Sensorineural hearing impairment OMIM:616969
Deafness, Autosomal Dominant 44
Sensorineural hearing impairment OMIM:607453
Deafness, Autosomal Dominant 47
Sensorineural hearing impairment OMIM:608652
Deafness, Autosomal Dominant 28
Sensorineural hearing impairment OMIM:608641
Deafness, Neural, Congenital Moderate
Sensorineural hearing impairment OMIM:221500
Deafness, Autosomal Dominant 53
Sensorineural hearing impairment OMIM:609965
Deafness, Autosomal Dominant 30
Sensorineural hearing impairment OMIM:606451
Deafness, Autosomal Recessive 18A
Sensorineural hearing impairment OMIM:602092
Deafness, Autosomal Recessive 53
Sensorineural hearing impairment OMIM:609706
Deafness, Autosomal Dominant 84
Sensorineural hearing impairment OMIM:619810
Deafness, Autosomal 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
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Opticocochleodentate Degeneration
Visual loss, Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness, Cochlear degeneration, Hearing impairment OMIM:271250
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Seizure, Cochlear degeneration ORPHA:3233
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... OMIM:601068
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Optic Atrophy 8
Abnormal auditory evoked potentials, Central scotoma, Sensorineural hearing impairment, Visual lo... OMIM:616648
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... OMIM:125250
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Meniere Disease
Vertigo, Tinnitus, Hearing impairment OMIM:156000
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Usher Syndrome, Type Iic
Congenital sensorineural hearing impairment OMIM:605472
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... OMIM:615127
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Deafness, Autosomal Dominant 50
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... OMIM:613074
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Usher Syndrome Type 1
Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Abnormal cochlea morphology, ... ORPHA:231169
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Nyctalopia, Progressive visual loss, Conductive hearing ... OMIM:303110
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Cerebral visu... ORPHA:52368
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Usher Syndrome Type 3
Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Abnormal cochlea morphology, ... ORPHA:231183
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Familial Adult Myoclonic, 3
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... OMIM:613608
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, Abnormality of vi... ORPHA:320401
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Deafness, Autosomal Dominant 86
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus OMIM:620280
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga, Hearing impairment OMIM:620270
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Cerebral visual impairment, Sensorineural hear... OMIM:617519
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... OMIM:619217
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... ORPHA:100973
Schizophrenia 15
Hyperactivity OMIM:613950
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Deafness, Autosomal Dominant 64
Sensorineural hearing impairment, Tinnitus OMIM:614152
Deafness, Autosomal Dominant 67
Sensorineural hearing impairment, Tinnitus OMIM:616340
Deafness, Autosomal Dominant 36
Sensorineural hearing impairment, Tinnitus OMIM:606705
Deafness, Y-Linked 1
Sensorineural hearing impairment, Tinnitus OMIM:400043
Deafness, Autosomal Dominant 43
Sensorineural hearing impairment, Tinnitus OMIM:608394
Deafness, Autosomal Dominant 77
Sensorineural hearing impairment, Tinnitus OMIM:618915
Deafness, Autosomal Dominant 33
Sensorineural hearing impairment, Tinnitus OMIM:614211
Deafness, Autosomal Dominant 72
Sensorineural hearing impairment, Tinnitus OMIM:617606
Deafness, Autosomal Dominant 82
Sensorineural hearing impairment, Tinnitus OMIM:619804
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Deafness, Autosomal Dominant 41
Progressive sensorineural hearing impairment, Tinnitus OMIM:608224
Deafness, Autosomal Dominant 16
Adult onset sensorineural hearing impairment, Tinnitus OMIM:603964
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Decreased fertility, Calf muscle hypertrophy, Dysphagia, Testicular atrophy OMIM:313200
Canavan Disease
Blindness, Optic atrophy, Seizure, EEG abnormality, Abnormality of visual evoked potentials, Visu... ORPHA:141
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Ravine Syndrome
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Constriction of peripheral visual field, Sensorineural heari... ORPHA:1215
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity, Low-set ears ORPHA:436151
Stxbp1-Related Encephalopathy
Hyperactivity, EEG with abnormally slow frequencies, Tremor, Multifocal epileptiform discharges, ... ORPHA:599373
Charcot-Marie-Tooth Disease, Type 4D
Myopia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural h... OMIM:601455
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Micrognathia, Aggressive behavior, Cryptorchidism, EEG abnormality, S... OMIM:604317
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Micrognathia, Fibular hypoplasia, Ta... OMIM:201170
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Blindness, Optic atrophy, Spinocerebellar atrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials, ... OMIM:617523
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia OMIM:619970
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Decreased nerve conduction velocity, Visual loss, Optic atrophy, Cerebral atr... OMIM:256600
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... ORPHA:3077
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... OMIM:301008
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small scrotum, Abnormal pinna morphology, Hypospadias, Rhizomelia, Short femur, Sa... OMIM:607143
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Tinnitus, Progressive hearing impairment OMIM:193005
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... ORPHA:206443
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Precocious puberty, Metatarsus adductus, Sensorineural heari... ORPHA:356961
Optic Atrophy 5
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... OMIM:610708
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism OMIM:300434
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia OMIM:301107
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased nerve con... OMIM:245200
Peroxisomal Acyl-Coa Oxidase Deficiency
Myopia, Sensorineural hearing impairment, Optic atrophy, Seizure, EEG abnormality, Low-set ears, ... ORPHA:2971
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy OMIM:300983
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Low-set ... OMIM:258860
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity, Hypsarrhythmia OMIM:617113
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... OMIM:619260
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... OMIM:119100
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Clinodactyly, Macrotia, Optic atrophy OMIM:300928
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal ... OMIM:618718
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Pes planus, Hyperactivity, Hypospadias, Abnormal pinna morphology, Sandal gap, Aggressive behavio... OMIM:300354
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Myoclonic seizure, EEG with generalized slo... ORPHA:168491
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Long penis, Coxa vara, Abnormal fib... ORPHA:1988
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Posteriorly rotated ears, Tapered finger, Aggressive behavior, Long fingers, Low-s... OMIM:609425
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Hyperprolinemia, Type I
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Sensorineural hearing impairment, Seizure, Abnormality of vi... ORPHA:1933
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Fragile X Syndrome
Macroorchidism, postpubertal, Pes planus, Hyperactivity, Self-biting, Recurrent hand flapping, Ma... OMIM:300624
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... OMIM:608800
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ... OMIM:268305
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased ne... ORPHA:206436
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... OMIM:616300
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavi... ORPHA:228402
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal... ORPHA:3344
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Amelia, Testicular atrophy OMIM:601163
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Syndactyly, Elevat... OMIM:305400
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal... OMIM:614613
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Fibular aplasia OMIM:218550
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia ORPHA:382
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive... OMIM:615541
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... ORPHA:3306
Fg Syndrome 3
Hyperactivity, Broad hallux, Cryptorchidism, Sensorineural hearing impairment, Broad thumb OMIM:300406
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... OMIM:619927
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Tremor, Sensorineural hearing impairment, Optic atrophy, L... OMIM:222300
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy, Visual impairment OMIM:616881
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Pelizaeus-Merzbacher Disease
Optic atrophy, Seizure, Abnormality of visual evoked potentials, Cerebral cortical atrophy, Visua... ORPHA:702
Omodysplasia 2
Dyspareunia, Short humerus, Hypospadias, Posteriorly rotated ears, Micrognathia, Cryptorchidism, ... OMIM:164745
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe OMIM:300143
Acromelic Frontonasal Dysostosis
Syndactyly, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydacty... OMIM:603671
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Abnormal repetitiv... OMIM:600430
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... ORPHA:85293
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Stankiewicz-Isidor Syndrome
Hyperactivity, Hypospadias, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, 2-3 toe synd... OMIM:617516
Cln5 Disease
Cerebellar atrophy, Generalized-onset seizure, Atrophy/Degeneration affecting the central nervous... ORPHA:228360
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Microphthalmia With Limb Anomalies
Toe syndactyly, Posteriorly rotated ears, Unilateral cryptorchidism, Sandal gap, Capitate-hamate ... OMIM:206920
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, EEG abnormality, Dysphagia ORPHA:500180
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Myopia, Aganglionic megacolon, Short-segment aganglionic meg... OMIM:609136
Arthrogryposis, Distal, Type 2A
Hip contracture, Shoulder flexion contracture, Abnormal auditory evoked potentials, Hearing impai... OMIM:193700
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius... ORPHA:3320
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Abnormal pinna morphology, Septate vagina, Micrognathia, Postaxial polydactyl... OMIM:617925
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy, Absent Achilles reflex, Ankle clo... OMIM:609541
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... ORPHA:1435
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Chronic Bilirubin Encephalopathy
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Epileptic spasm, Decreased nerve conduction velocity, Opti... ORPHA:485421
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short tibia, Short femur, Glandular hypospadias OMIM:620306
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test,... ORPHA:485405
Lesch-Nyhan Syndrome
Hip dislocation, Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Dystonia, Tes... OMIM:300322
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, EEG with generalized polyspikes, Precocious puberty, Aggressive behavior, Preaxial... ORPHA:163681
Myotonic Dystrophy 1
Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... OMIM:160900
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Pes cavus, Hypogonadotropic hypogonadism,... OMIM:308750
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia, Seizure ORPHA:3240
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Overlapping toe, Posteriorly rotated ears, Ankle clonus, Low-set ears OMIM:618598
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... ORPHA:99027
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Hypospadias, Abnormal pinna morpholo... OMIM:123450
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Myopia, Abnormal pinna morphology, Cerebral visual impairment, Corpus callosum atrophy, Optic atr... ORPHA:480898
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Ivory epiphyses, Hyperactivity, Abnormal pinna morphology, Hypospad... OMIM:210600
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Cryptorchidism, Exaggerated startle response, Hearing impairment OMIM:620327
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal ... ORPHA:96334
Deafness, Unilateral
Unilateral deafness OMIM:125000
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Flexion contracture of finger, Restless legs, Optic nerve hy... ORPHA:101085
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy, Hyporeflexia of lower limbs, Pes ... ORPHA:320406
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Syndactyly, Hyperactivity, EEG with focal spike waves, Tremor,... ORPHA:1942
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Optic atrophy, H... OMIM:617301
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... OMIM:263520
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Seizure, Bilateral sen... ORPHA:309256
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Mend Syndrome
Hyperactivity, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ... ORPHA:401973
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, C... OMIM:616875
Cerebrotendinous Xanthomatosis
Resting tremor, Optic disc pallor, Pes cavus, Abnormal auditory evoked potentials, Optic neuropat... ORPHA:909
Developmental And Epileptic Encephalopathy 3
EEG with burst suppression, Cerebral atrophy, Seizure, Brain atrophy, Generalized myoclonic seizu... OMIM:609304
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Seizure, Bilateral sen... ORPHA:309263
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia, Optic atrophy... OMIM:617302
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r... ORPHA:521426
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Adult Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
13Q12.3 Microdeletion Syndrome
Hyperactivity, Cryptorchidism, Hip dysplasia, Camptodactyly, Self-mutilation, Hemihypotrophy of l... ORPHA:412035
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Hypsarrhythmia, Anterior creases of earlobe, Generalized myoclonic seizure, Cl... ORPHA:314389
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Photophobia, Seizure, Visual impairment, Macr... ORPHA:90321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Se... OMIM:157640
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... ORPHA:79330
Trisomy 10P
Absent gallbladder, Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potenti... ORPHA:171929
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ... ORPHA:2879
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Hypothyroidism ORPHA:3198
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Agitation, Clinodactyly of the 5th finger OMIM:618056
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Absent thumb, Hypsarrhythmia OMIM:619239
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia... ORPHA:239
Micro Syndrome
Low-set, posteriorly rotated ears, Cerebral visual impairment, Pachygyria, Optic atrophy, Seizure... ORPHA:2510
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hyperactivity, EEG with abnormally slow frequencies, Tremor, Ab... ORPHA:98794
X-Linked Adrenoleukodystrophy
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Impotence, Progressive hear... ORPHA:43
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... ORPHA:958
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Friedreich Ataxia
Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential... OMIM:229300
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Broad long bone diaphyses, Hypoplastic vertebral bodies, Flared ili... ORPHA:79255
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia OMIM:617281
Tibial Hemimelia
Absent tibia OMIM:275220
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... ORPHA:1827
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly... OMIM:617527
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hyperekplexia 1
Exaggerated startle response, Hip dislocation OMIM:149400
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Seizure, Bilateral sen... ORPHA:309271
Tay-Sachs Disease
Exaggerated startle response, Quadriceps muscle atrophy, Tremor, Precocious puberty, Optic atroph... ORPHA:845
Cockayne Syndrome A
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Cryptorc... OMIM:216400
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... OMIM:608747
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Nonarteritic anterior ischemic optic neuropathy, Seizure, Abnormality of visual evok... OMIM:125310
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Absent nipple, Posteriorly rotated ears, Toe syndactyly, Hypoplastic scap... OMIM:200980
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Male ... ORPHA:140
Usher Syndrome Type 2
Myopia, Scotoma, Visual loss, Sensorineural hearing impairment, Abnormality of the inner ear, Nyc... ORPHA:231178
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity OMIM:617864
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... OMIM:276820
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male... OMIM:260660
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff-Person Syndrome
Exaggerated startle response, Diabetes mellitus, Opisthotonus OMIM:184850
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Dysphagia, EEG with gen... OMIM:618367
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:424
Distal Duplication 17Q
Low-set, posteriorly rotated ears, Hallux valgus, Hyperactivity, Arachnodactyly, Rhizomelia, Over... ORPHA:3379
Fibrochondrogenesis 1
Hypoplastic scapulae, Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bone, Broad lon... OMIM:228520
Hydrolethalus Syndrome 1
Hypospadias, Abnormal pinna morphology, Bifid uterus, Micrognathia, Preaxial hand polydactyly, Po... OMIM:236680
Early Infantile Epileptic Encephalopathy
Hyperactivity, Tremor, Precocious puberty, EEG with burst suppression, Hypsarrhythmia, Choreoathe... ORPHA:1934
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Long foot, Micrognathia, Tremor, EEG with b... OMIM:615574
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Clinodactyly of the 5th finger, Small earlobe, Abnormal repetitive mannerisms, Hypospadias, Taper... OMIM:619522
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Seizure, Abnormality of visual evoked potentials, Visual imp... ORPHA:512
Sandhoff Disease
Exaggerated startle response, Impotence, Orthostatic hypotension OMIM:268800
Orofaciodigital Syndrome Type 4
Micromelia, Micrognathia, Conductive hearing impairment, Aplasia/Hypoplasia of the tibia, Genu va... ORPHA:2753
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... OMIM:214800
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
X-Linked Intellectual Disability, Snyder Type
Long toe, Hypospadias, Arachnodactyly, Asymmetry of the ears, Cryptorchidism, Cupped ear, Slender... ORPHA:3063
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pancreatic fibrosis, Pancreatic cysts, Early ossification of capital femo... OMIM:208500
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... OMIM:304120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Calf muscle hypertrophy, Exaggerated startle response, Optic atrophy OMIM:253800
Legius Syndrome
Hyperactivity, Ovarian neoplasm, Diaphyseal dysplasia, Vestibular schwannoma, Male urethral meatu... ORPHA:137605
Schinzel-Giedion Syndrome
Abnormality of the stapes, Epileptic spasm, Aganglionic megacolon, Hypsarrhythmia, Abnormal cochl... ORPHA:798
Ulbright-Hodes Syndrome
Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnorma... ORPHA:3404
Norrie Disease
Blindness, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morp... ORPHA:649
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... ORPHA:273
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Abnormality of the endocrine system, Precocious ... ORPHA:438213
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Micrognathia, Talipes calcaneovalgus, Micropenis, Paroxysmal bursts of laughter, H... OMIM:309580
Kinsship Syndrome
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, Polydactyly, ... OMIM:619297
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Posteriorly rotated ears, Facial palsy, Arachnodactyly, Micrognathia,... OMIM:300373
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Low-set, posteriorly rotated ears, Mixed hearing impairment, Brachydactyly, Hypospadias, Decrease... ORPHA:444077

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 Adgrv1

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 Adgrv1.

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) Adgrv1tm1.1(KOMP)Vlcg PMC5638796

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Adgrv1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Adgrv1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue

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