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Gene: Epha4 MGI:98277

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
Eph receptor A4
Synonyms:
Hek8,  Sek1,  rb,  Cek8,  Sek,  Tyro1,  2900005C20Rik

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Epha4 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 Epha4 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803

The table below shows human diseases predicted to be associated to Epha4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Vertigo, Benign Recurrent
Gait imbalance OMIM:193007
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression OMIM:608220
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Decreased thalamic volume OMIM:618646
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Unsteady gait, Agenesis of corpus callosum OMIM:617542
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Gerstmann-Straussler-Scheinker Syndrome
Dysesthesia, Abnormal pyramidal tract morphology, Gait ataxia, Paresthesia, Acroparesthesia ORPHA:356
Coasy Protein-Associated Neurodegeneration
Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal... ORPHA:397725
Spastic Paraplegia 2, X-Linked
Degeneration of the lateral corticospinal tracts, Dysmetria, Spinocerebellar tract degeneration, ... OMIM:312920
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Dorsal column degeneration, Progressive cerebellar ataxia, Ataxia, Spinocerebellar tract degenera... ORPHA:3177
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spastic ataxia, Spinocerebellar tract degeneration OMIM:271320
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polymicrogyria, Microcephaly, Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract OMIM:619602
Familial Congenital Mirror Movements
Agenesis of corpus callosum, Abnormal corticospinal tract morphology ORPHA:238722
Autosomal Dominant Spastic Paraplegia Type 37
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:171612
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... OMIM:600638
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im... OMIM:604360
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal pyramidal tract morphology, Leukoencephalopathy, Cerebral atrophy, Tip-toe gait, Gait di... ORPHA:83629
Autosomal Dominant Spastic Paraplegia Type 19
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 8
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:100989
Neuropathy, Ataxia, And Retinitis Pigmentosa
Ataxia, Corticospinal tract atrophy OMIM:551500
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Adult Krabbe Disease
Broad-based gait, Somatic sensory dysfunction, Ataxia, Abnormal pyramidal tract morphology, Impai... ORPHA:206448
Autosomal Dominant Spastic Paraplegia Type 42
Impaired vibration sensation in the lower limbs, Spastic gait, Spinal cord lesion, Degeneration o... ORPHA:171863
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Spastic Paraplegia 3, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Hypoplasia of the corpus callosum,... OMIM:182600
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormality of the anterior commissure, Neurogenic bladder, Pachygyria, Thin corpus callosum ORPHA:572013
Autosomal Dominant Spastic Paraplegia Type 73
Impaired vibration sensation in the lower limbs, Spastic gait, Difficulty walking, Degeneration o... ORPHA:444099
Spastic Paraplegia 8, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Degeneration of the lateral cortic... OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Degeneration of the lateral cortic... OMIM:600363
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait OMIM:611637
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Spinocerebellar tract degeneration, Gait disturbance ORPHA:2572
Autosomal Dominant Spastic Paraplegia Type 41
Spastic gait, Spinal cord lesion, Degeneration of the lateral corticospinal tracts ORPHA:320355
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypop... OMIM:618193
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the corpus callo... OMIM:619072
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Pyruvate Dehydrogenase E1-Beta Deficiency
Ataxia, Periventricular cysts, Hypoplasia of the corpus callosum, Short corpus callosum, Corticos... ORPHA:255138
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Unsteady gait, Limb ataxia, Gait ataxia, Progressive cere... ORPHA:95434
Autosomal Dominant Spastic Paraplegia Type 38
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:171617
Tubulinopathy-Associated Dysgyria
Microcephaly, Abnormal thalamus morphology, Pachygyria, Abnormality of the internal capsule, Agyr... ORPHA:467166
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Autosomal Dominant Spastic Paraplegia Type 12
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... ORPHA:100993
Spastic Paraplegia 4, Autosomal Dominant
Impaired vibration sensation in the lower limbs, Spastic gait, Degeneration of the lateral cortic... OMIM:182601
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Spastic gait, Gait imbalance ORPHA:247604
Spastic Paraplegia 7, Autosomal Recessive
Waddling gait, Spastic ataxia, Degeneration of the lateral corticospinal tracts, Impaired vibrati... OMIM:607259
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Diffuse cerebral atrophy, Secondary microcephaly, Decreased thalamic volume OMIM:613668
Narp Syndrome
Abnormal basal ganglia MRI signal intensity, Ataxia, Progressive gait ataxia, Corticospinal tract... ORPHA:644
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Partial agenesis of the corpus callosum, Simplified gyral patt... ORPHA:300570
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Rosenthal ... ORPHA:363717
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Basal Ganglia Calcification, Idiopathic, 5
Basal ganglia calcification, Cerebral calcification, Thalamic calcification OMIM:615483
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Lissencephaly 9 With Complex Brainstem Malformation
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... OMIM:618325
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Split Cord Malformation Type I
Diastomatomyelia ORPHA:1671
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... OMIM:615542
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Thalamic calcification, Dysmetria OMIM:618317
Spinocerebellar Degeneration And Corneal Dystrophy
Ataxia, Spinocerebellar tract degeneration OMIM:271310
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona... ORPHA:275872
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion, Leukoencephalopathy OMIM:613724
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism, Ataxia, Gait disturbance ORPHA:1174
Myxopapillary Ependymoma
Unsteady gait, Abnormal conus terminalis morphology ORPHA:251643
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Microcephaly With Cervical Spine Fusion Anomalies
Spinal cord compression OMIM:251250
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Cerebral atrophy OMIM:619057
Spinocerebellar Ataxia With Epilepsy
Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Focal T2 hyperintense ... ORPHA:254881
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, Athetosis, Dystonia OMIM:619310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, T2 hypointense thalamus, Unsteady gait, Gait ataxia ORPHA:1947
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance OMIM:608030
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis ORPHA:85274
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia ORPHA:98764
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions ORPHA:557003
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Neuroferritinopathy
Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign... ORPHA:157846
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia, Microcephaly, Hydranencephaly, Polymicrogyria, Agenesis of corpus callosum OMIM:225790
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Thinning of the substantia nigra pars compacta, Akinesia OMIM:619911
Familial Acute Necrotizing Encephalopathy
Abnormal putamen morphology, Abnormal thalamus morphology, Cerebral edema ORPHA:88619
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Loss of ambulation, Spastic gait OMIM:606353
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micr... ORPHA:3363
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Abnormal spinal cord morphology, Gait disturbance ORPHA:139578
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter morphology, Focal T2 h... ORPHA:79264
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis OMIM:264600
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Abnormal upper motor neuron m... ORPHA:35689
Adrenomyeloneuropathy
Cerebral dysmyelination, Atrophy/Degeneration involving the corticospinal tracts, Dysesthesia, At... ORPHA:139399
Acute Disseminated Encephalomyelitis
Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal spina... ORPHA:83597
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal... ORPHA:363558
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Unsteady gait, Falls, Gait imbalance, Loss of ambulation, Short stepp... ORPHA:240094
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Short stepped shuffling gait ORPHA:391411
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Inability to walk, Abnormal anterior horn cell morphology... OMIM:611890
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Falls, Shuffling gait, Spinocerebellar tract degeneration, Short stepped sh... ORPHA:412066
Neurodegeneration With Brain Iron Accumulation 5
Eye of the tiger anomaly of globus pallidus, Cerebral atrophy, Akinesia OMIM:300894
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Gait disturbance, Hypospadias ORPHA:1762
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Cryptorchidism, Premature pubarche, Dystonia ORPHA:457205
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Inability to walk, Abnormal thalamic MRI signal intensity, Impaired tandem gait, Difficul... ORPHA:254930
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size ORPHA:261483
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Ataxia, Postural tremor, Decreased fertility i... ORPHA:79239
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Cryptorchidism, Dystonia, Gait ataxia OMIM:618917
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Gait disturbance OMIM:263570
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:444013
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Akinesia, Gait ataxia ORPHA:98773
Manganese Poisoning
Abnormal globus pallidus morphology, Gait disturbance, Akinesia ORPHA:306682
Congenital Muscular Dystrophy With Cerebellar Involvement
Microcephaly, Diffuse white matter abnormalities, Decreased thalamic volume, Polymicrogyria, Agen... ORPHA:370959
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Abnormal substantia nigra morphology, Paucity... ORPHA:79139
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Inability to walk, Difficulty walking, Waddling gait ORPHA:2590
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Abnormal thalamus morphology ORPHA:435638
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hydranencephaly, Abnormality of the dien... ORPHA:2570
Cach Syndrome
T2 hypointense thalamus, Dysgyria, Cerebral atrophy, Microcephaly ORPHA:135
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal basal ganglia MRI signal intensity, Secondary microcephaly, Abnormal thalamic MRI signal... ORPHA:485421
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Ataxia, Gait ataxia OMIM:215470
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Cryptorchidism, Gait disturbance ORPHA:1192
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Lissencephaly, Holoprose... OMIM:253800
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Smith-Magenis Syndrome
Impaired pain sensation, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Gait disturbanc... ORPHA:819
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Retract... ORPHA:163976
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity ORPHA:309155
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Akinesia OMIM:616840
Spinocerebellar Ataxia 21
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia OMIM:607454
Tonne-Kalscheuer Syndrome
Broad-based gait, Hypospadias, Shyness, Tremor, Cryptorchidism, Micropenis, Decreased testicular ... OMIM:300978
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Corticobasal Syndrome
Somatic sensory dysfunction, Gait disturbance, Akinesia ORPHA:454887
Seckel Syndrome 8
Spinal cord compression OMIM:615807
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Snijders Blok-Fisher Syndrome
Choreoathetosis, Cryptorchidism, Opisthotonus OMIM:618604
Postencephalitic Parkinsonism
Abnormal substantia nigra morphology, Paresthesia, Akinesia ORPHA:97349
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Broad-based gait, Hypogonadotropic hypogonadism, Cryptorchidism, Dysmetria, Gait ataxia, Dysdiado... OMIM:619761
Congenital Myopathy 9A
Cryptorchidism, Akinesia OMIM:618822
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology, Steppage gait, Inability to walk by childhood/adolescence ORPHA:99947
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly OMIM:616975
Aceruloplasminemia
Ataxia, Akinesia, Chorea, Limb ataxia, Gait ataxia, Abnormal corpus striatum morphology ORPHA:48818
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism, Gait disturbance ORPHA:85322
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia OMIM:615982
Laurence-Moon Syndrome
Cryptorchidism, Hypoplasia of penis, Ataxia, Displacement of the urethral meatus ORPHA:2377
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Shyness, Cryptorchidism, Increased circulating gonad... ORPHA:163971
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Hydranencephaly
Thalamic edema, Cerebral cortical atrophy, Primary microcephaly, Dysgenesis of the thalamus, Abno... ORPHA:2177
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Cerebral calcification, Leukoencephalopathy, Akinesia, Microcephaly OMIM:619147
Birk-Aharoni Syndrome
Inability to walk, Cryptorchidism, Micropenis OMIM:620071
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... OMIM:614837
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased testicul... OMIM:610628
N Syndrome
Cryptorchidism, Hypospadias OMIM:310465
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis OMIM:202150
Congenital Myopathy 19
Cryptorchidism, Gait disturbance OMIM:618578
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Difficulty walking OMIM:613954
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Abnormal thalamus morphology ORPHA:2959
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Intellectual Developmental Disorder, X-Linked 12
Tremor, Cryptorchidism, Gait disturbance, Microphallus OMIM:300957
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism, Broad-based gait ORPHA:466926
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... OMIM:608800
Image Syndrome
Cryptorchidism, Hypogonadism, Hypospadias ORPHA:85173
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Kufor-Rakeb Syndrome
Akinesia, Ataxia, Gait disturbance, Distal sensory impairment OMIM:606693
Parkinson Disease 17
Akinesia OMIM:614203
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Leigh Syndrome
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... ORPHA:506
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Tremor, Cryptorchidism, Gait ataxia, Hypogonadism, Micropenis, Decreased testicular ... OMIM:300354
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, Azoospermia, Micropenis, Te... OMIM:308700
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, ... ORPHA:478
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Cryptorchidism, Ataxia OMIM:618060
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity, Gait ataxia ORPHA:70595
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... OMIM:614841
Rhombencephalosynapsis
Fusion of the left and right thalami, Ataxia ORPHA:59315
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Azoospermia,... ORPHA:10
2Q23.1 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis, Ataxia, Paroxysmal bursts of laughter ORPHA:228402
3-Methylglutaconic Aciduria, Type V
Hypospadias, Ataxia, Cryptorchidism, Nonprogressive cerebellar ataxia, Decreased testicular size OMIM:610198
Kallmann Syndrome With Spastic Paraplegia
Hypogonadotropic hypogonadism, Ataxia, Cryptorchidism, Micropenis, Testicular atrophy OMIM:308750
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Cryptorchidism, Dystonia, Truncal ataxia ORPHA:88639
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait ORPHA:247234
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Secondary microcephaly, Hypoplasia of the corpus callosum OMIM:619306
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size OMIM:614897
Foix-Alajouanine Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Myelopathy, Unsteady gait, Spinal cord lesion... ORPHA:79093
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Cerebral calcification, Abnormal conus terminalis morphology, Abnormal basal... ORPHA:464321
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Ataxia, Tip-toe gait, Diff... OMIM:205100
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:616030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis OMIM:612702
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gait disturbance OMIM:221770
Supranuclear Palsy, Progressive, 2
Neuronal loss in basal ganglia, Akinesia, Neurofibrillary tangles, Granulovacuolar degeneration, ... OMIM:609454
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea OMIM:618841
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Dystonia OMIM:613970
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Hereditary Late-Onset Parkinson Disease
Lewy bodies, Cerebral cortical atrophy, Shuffling gait, Akinesia ORPHA:411602
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism OMIM:250951
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:1381
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Akinesia, Neurofibrillary tangles, Cerebral atrophy, Granulovacuo... OMIM:601104
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Intracerebral periventricular calcifications, Decreased thalami... ORPHA:168577
Mitochondrial Complex I Deficiency, Nuclear Type 28
Choreoathetosis, Akinesia, Truncal ataxia OMIM:618249
Tay-Sachs Disease
Inability to walk, Gait disturbance, Abnormal thalamic MRI signal intensity, Dysmetria ORPHA:845
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased testicular size OMIM:300869
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Classic Progressive Supranuclear Palsy Syndrome
Falls, Gait imbalance, Akinesia ORPHA:240071
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Dystonia ORPHA:404451
Partial Androgen Insensitivity Syndrome
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated ... ORPHA:90797
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia ORPHA:363741
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology, Ataxia, Gait disturbance, Gait ataxia ORPHA:88628
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon, Microcephaly ORPHA:2165
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias OMIM:101805
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Gait disturbance, Spastic gait, Gait ataxia OMIM:601162
Spinal Arteriovenous Metameric Syndrome
Abnormal spinal cord morphology, Spinal arteriovenous malformation ORPHA:53721
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Focal hypointensity of cerebral white matter on MRI, Impaired pain sensation, I... ORPHA:261552
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Ataxia OMIM:249270
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Autosomal Recessive Spastic Paraplegia Type 11
Abnormal substantia nigra morphology, Atrophy of the spinal cord, Hyperintensity of cerebral whit... ORPHA:2822
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:1027
Meningioma
Enlarged pituitary gland, Ataxia, Reduced circulating prolactin concentration, Neoplasm of the an... ORPHA:2495
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Ataxia OMIM:620012
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Supernumerary nipple, Cryptorchidism, Unsteady gait, Gait ataxia OMIM:618109
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Akinesia, Choreoathetosis, Gait disturbance, Eye of the tiger anomaly of globus pallidus,... OMIM:234200
X-Linked Cerebral Adrenoleukodystrophy
Ataxia, Myelopathy, Abnormal spinal cord morphology, Inability to walk, Dysmetria, Gait disturban... ORPHA:139396
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Neurogenic bladder, Degeneration of anterior horn cells, ... ORPHA:276244
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Oligozoospermia OMIM:314300
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370921
Congenital Myopathy 12
Akinesia OMIM:612540
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism OMIM:601794
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:244200
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Cockayne Syndrome Type 2
Ataxia, Cryptorchidism, Gait disturbance, Difficulty walking, Male hypogonadism ORPHA:90322
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:168593
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Cryptorchidism, Testicular seminoma ORPHA:281090
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Holoprosencephaly 7
Microcephaly, Partial agenesis of the corpus callosum, Panhypopituitarism, Fusion of the left and... OMIM:610828
Gaucher Disease, Perinatal Lethal
Akinesia, Microcephaly OMIM:608013
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Cryptorchidism ORPHA:67044
Reni Syndrome
Cryptorchidism, Micropenis, Hypogonadism, Ataxia OMIM:617575
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Difficulty walking ORPHA:531151
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Dpagt1-Cdg
Ataxia, Akinesia, Microcephaly, Inability to walk, Hypoplasia of the corpus callosum, Cerebral co... ORPHA:86309
African Trypanosomiasis
Abnormal basal ganglia MRI signal intensity, Somatic sensory dysfunction, Akinesia, Myelopathy, I... ORPHA:3385
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Cryptorchidism, Gait ataxia, Microphallus, Micropenis OMIM:300486
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosu... ORPHA:314621
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism ORPHA:1338
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Cryptorchidism, Ventral shortening of foreskin, Displacement of the urethral meatu... ORPHA:95706
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Hypospadias, Female external genitalia in individual with 46,XY karyotype, ... ORPHA:90791
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fe... ORPHA:90796
Superficial Siderosis
Ataxia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Unsteady gait, Dysmetria, Li... ORPHA:247245
Arthrogryposis Multiplex Congenita 5
Akinesia, Microcephaly OMIM:618947
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Ataxia ORPHA:2720
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum OMIM:618929
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Bickerstaff Brainstem Encephalitis
Ataxia, Abnormal thalamic MRI signal intensity ORPHA:79138
Urofacial Syndrome 1
Cryptorchidism OMIM:236730
Craniopharyngioma
Enlarged pituitary gland, Cerebral calcification, Neoplasm of the anterior pituitary, Pituitary h... ORPHA:54595
Amoebiasis Due To Free-Living Amoebae
Abnormal spinal cord morphology, Abnormal basal ganglia morphology, Abnormal hypothalamus morphol... ORPHA:68
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Loss of ambulation, Ataxia, Gait disturbance OMIM:614298
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... OMIM:615849
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Williams Syndrome
Ataxia, Atrophy/Degeneration involving the corticospinal tracts, Microcephaly, Dysmetria, Gait di... ORPHA:904
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples OMIM:616001
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Pituitary Stalk Interruption Syndrome
Cryptorchidism, Hypoplasia of penis, Primary amenorrhea, Ectopic posterior pituitary ORPHA:95496
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypospadias OMIM:619718
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Cryptorchidism, Rectoperineal fistula, Difficulty walking OMIM:618748
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism OMIM:613266
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Diphallia
Bifid scrotum, Rectoperineal fistula, Hypospadias, Cryptorchidism, Epispadias, Penoscrotal transp... ORPHA:227
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Limb Body Wall Complex
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida ORPHA:2369
Norrie Disease
Abnormality of the diencephalon, Cerebral cortical atrophy, Microcephaly ORPHA:649
Primary Sjögren Syndrome
Abnormal spinal cord morphology ORPHA:289390
Tetrasomy 9P
Abnormal spinal cord morphology ORPHA:3310

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 Epha4

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 Epha4.

No publications found that use IMPC mice or data for Epha4.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Epha4tm351848(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Epha4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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