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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
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance ORPHA:256
Spastic Paraplegia 25, Autosomal Recessive
Spinal cord compression OMIM:608220
Microcephaly 25, Primary, Autosomal Recessive
Tethered cord, Filum terminale lipoma OMIM:618351
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Decreased thalamic volume OMIM:618646
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
Gerstmann-Straussler-Scheinker Syndrome
Acroparesthesia, Paresthesia, Gait ataxia, Abnormal pyramidal tract morphology, Dysesthesia ORPHA:356
Dystonia 9
Paresthesia, Abnormal pyramidal tract morphology, Choreoathetosis, Episodic ataxia OMIM:601042
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal corpus striat... ORPHA:397725
Craniofacial Conodysplasia
Spinal cord compression ORPHA:85168
Huntington Disease-Like 3
Chorea, Caudate atrophy, Frontal cortical atrophy, Abnormal pyramidal tract morphology, Ataxia, U... OMIM:604802
Spinocerebellar Ataxia 13
Limb ataxia, Gait ataxia, Limb dysmetria, Abnormal pyramidal tract morphology, Impaired distal vi... OMIM:605259
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spastic Paraplegia 2, X-Linked
Spinocerebellar tract degeneration, Dysmetria, Degeneration of the lateral corticospinal tracts, ... OMIM:312920
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Dorsal column degeneration, Spinocerebellar tract degeneration, At... ORPHA:3177
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spastic ataxia, Spinocerebellar tract degeneration OMIM:271320
Autosomal Dominant Spastic Paraplegia Type 37
Difficulty walking, Impaired vibration sensation in the lower limbs, Degeneration of the lateral ... ORPHA:171612
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Microcephaly, Polymicrogyria OMIM:619602
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Leukoencephalopathy, Tip-toe gait, Cerebral atrophy, Hypoplasia of the corpus callosum, Gait dist... ORPHA:83629
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl... OMIM:600638
Autosomal Dominant Spastic Paraplegia Type 19
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Degeneration of... ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 8
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Limb dysmetria,... ORPHA:100989
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Neuropathy, Ataxia, And Retinitis Pigmentosa
Corticospinal tract atrophy, Ataxia OMIM:551500
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Autosomal Dominant Spastic Paraplegia Type 42
Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Impaired vibration sensatio... ORPHA:171863
Familial Congenital Mirror Movements
Abnormal corticospinal tract morphology, Agenesis of corpus callosum ORPHA:238722
L-2-Hydroxyglutaric Aciduria
Leukoencephalopathy, Corpus callosum atrophy, Abnormal pyramidal tract morphology, Ataxia OMIM:236792
Adult Krabbe Disease
Abnormal corpus callosum morphology, Broad-based gait, Acroparesthesia, Somatic sensory dysfuncti... ORPHA:206448
Amyotrophic Lateral Sclerosis 8
Loss of ambulation, Abnormal pyramidal tract morphology, Amyotrophic lateral sclerosis OMIM:608627
Spastic Paraplegia 11, Autosomal Recessive
Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs, Abnorma... OMIM:604360
Spinocerebellar Ataxia 8
Abnormal pyramidal tract morphology, Progressive cerebellar ataxia OMIM:608768
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Impaired vibration sensation in the lower limbs, Degeneration of... ORPHA:171617
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Neurogenic bladder, Thin corpus callosum, Abnormality of the anterior commissure ORPHA:572013
Autosomal Dominant Spastic Paraplegia Type 73
Degeneration of the lateral corticospinal tracts, Difficulty walking, Impaired vibration sensatio... ORPHA:444099
Spinocerebellar Ataxia 10
Limb ataxia, Gait ataxia, Dysmetria, Distal sensory impairment, Abnormal pyramidal tract morpholo... OMIM:603516
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a... OMIM:614840
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Abnormal corticospinal tract morphology OMIM:607225
Giant Axonal Neuropathy 1, Autosomal Recessive
Steppage gait, Abnormal pyramidal tract morphology, Lateral ventricle dilatation, Distal sensory ... OMIM:256850
Dystonia 16
Gait disturbance, Abnormal pyramidal tract morphology OMIM:612067
Autosomal Dominant Spastic Paraplegia Type 41
Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Spastic gait ORPHA:320355
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Spastic Paraplegia 3, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... OMIM:182600
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Gait disturbance, Spinocerebellar tract degeneration, Ataxia ORPHA:2572
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, Hypoplasia of the co... OMIM:618193
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Cerebral cortical atrophy, Decreased thalamic volume, Hypoplasia of the corpus callosum, Microcep... OMIM:619072
Spastic Paraplegia 8, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... OMIM:603563
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... OMIM:600363
Parkinson-Dementia Syndrome
Abnormal pyramidal tract morphology OMIM:260540
Neurodegeneration With Brain Iron Accumulation 2A
Unsteady gait, Abnormal pyramidal tract morphology, Cerebral atrophy, Ataxia OMIM:256600
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Gait ataxia, Abnormal lower motor neuron morphology, Truncal ataxia, Unsteady gait, ... ORPHA:95434
Tubulinopathy-Associated Dysgyria
Abnormal corpus callosum morphology, Abnormality of the internal capsule, Abnormal thalamus morph... ORPHA:467166
Autosomal Dominant Spastic Paraplegia Type 12
Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ataxia, Degeneration of... ORPHA:100993
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomalacia, Hypoplasia o... ORPHA:255138
Juvenile Primary Lateral Sclerosis
Spastic gait, Abnormal upper motor neuron morphology, Gait imbalance ORPHA:247604
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Secondary microcephaly, Decreased thalamic volume, Diffuse cerebral atrophy OMIM:613668
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly, Small basal ganglia, Inabili... ORPHA:300570
Alexander Disease Type I
Focal T2 hyperintense basal ganglia lesion, Rosenthal fibers, Abnormal cerebral white matter morp... ORPHA:363717
Hydrocephalus, Congenital, X-Linked
Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha... OMIM:307000
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Narp Syndrome
Ataxia, Cerebral cortical atrophy, Progressive gait ataxia, Corticospinal tract atrophy, Abnormal... ORPHA:644
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
Spastic Paraplegia 7, Autosomal Recessive
Cerebral cortical atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Dysmetri... OMIM:607259
Ossification Of The Posterior Longitudinal Ligament Of Spine
Myelopathy, Spinal cord compression OMIM:602475
Basal Ganglia Disease, Biotin-Thiamine Responsive
Inability to walk, Chorea, Abnormal basal ganglia morphology, Gait ataxia, Abnormal pyramidal tra... OMIM:607483
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Spastic Paraplegia 4, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Impaired vibration sensation in the lower limbs... OMIM:182601
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Lis... OMIM:618325
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Ambiguous geni... OMIM:615542
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal tract morphology OMIM:613135
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Cerebral atrophy, Intracerebral periventricular calcifications, Basal gangli... OMIM:225750
Split Cord Malformation Type I
Diastomatomyelia ORPHA:1671
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification, Dysmetria, Ataxia OMIM:618317
Spinocerebellar Degeneration And Corneal Dystrophy
Spinocerebellar tract degeneration, Ataxia OMIM:271310
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Leukoencephalopathy With Dystonia And Motor Neuropathy
Leukoencephalopathy, Focal T2 hyperintense thalamic lesion OMIM:613724
Myxopapillary Ependymoma
Abnormal conus terminalis morphology, Unsteady gait ORPHA:251643
Amyotrophic Lateral Sclerosis 16, Juvenile
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:614373
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
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
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Neuronal loss in the cerebral cortex, Degeneration of the... ORPHA:275872
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion, Gait ataxia, Dysmetria, Dysdiadochokinesis, Progressive ce... ORPHA:254881
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Leukodystrophy, Hypomyelinating, 21
Cryptorchidism, Hypogonadotropic hypogonadism, Ataxia, Dystonia, Athetosis OMIM:619310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait OMIM:611067
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Micropenis, Cryptorchidism ORPHA:85274
Dihydropyrimidinase Deficiency
Abnormal cerebral white matter morphology, Microcephaly, Abnormal pyramidal tract morphology OMIM:222748
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, Loss of ambulati... ORPHA:240094
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Gait disturbance, Cryptorchidism, Ataxia ORPHA:1174
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Amyotrophic lateral sclerosis OMIM:608030
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Inability to walk, Gait ataxia, T2 hypointense thalamus, Ataxia, Unsteady gait ORPHA:1947
Spinocerebellar Ataxia Type 27
Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia ORPHA:98764
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions ORPHA:557003
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormality of the spinocerebellar tracts, Abnormal pyramidal tract... OMIM:601992
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Polymicrogyria, Akinesia, Agenesis of corpus callosum, Microcephaly OMIM:225790
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Neuroferritinopathy
Eye of the tiger anomaly of globus pallidus, Abnormal basal ganglia morphology, Abnormal caudate ... ORPHA:157846
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Freezing of gait, Akinesia, Thinning of the substantia nigra pars compacta OMIM:619911
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Familial Acute Necrotizing Encephalopathy
Cerebral edema, Abnormal thalamus morphology, Abnormal putamen morphology ORPHA:88619
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukoencephalopathy, Cerebral calcification, Abnormal pyramidal tract morphology, Ataxia OMIM:612199
Primary Lateral Sclerosis, Juvenile
Loss of ambulation, Abnormal upper motor neuron morphology, Spastic gait OMIM:606353
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Abnormal lower motor neuron morphology, Atroph... OMIM:602433
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Ataxia, Micr... ORPHA:3363
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias OMIM:264600
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Gait disturbance, Abnormal spinal cord morphology ORPHA:139578
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Bilateral cryptorchidism, Abnormal scrotum morphology... ORPHA:457083
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Focal T2 hyperintense basal ganglia lesion, Abnormal cereb... ORPHA:79264
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C... ORPHA:755
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Myelitis, Abnormal basal ganglia morphology, Abnormal periven... ORPHA:83597
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Inability to walk, Akinesia, Gait ataxia ORPHA:391411
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Difficulty walking, Abnormal anterior horn cell morpholog... OMIM:611890
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal... ORPHA:363558
Classic Galactosemia
Ataxia, Postural tremor, Gait imbalance, Action tremor, Cryptorchidism, Decreased fertility in fe... ORPHA:79239
Neurodegeneration With Brain Iron Accumulation 5
Eye of the tiger anomaly of globus pallidus, Akinesia, Cerebral atrophy OMIM:300894
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, I... ORPHA:752
Combined Oxidative Phosphorylation Defect Type 7
Difficulty walking, Inability to walk, Impaired tandem gait, Ataxia, Abnormal thalamic MRI signal... ORPHA:254930
Xq27.3Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Cryptorchidism ORPHA:261483
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Difficulty walking, Inability to walk, Waddling gait ORPHA:2590
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Gait disturbance OMIM:263570
Cach Syndrome
Cerebral atrophy, Dysgyria, T2 hypointense thalamus, Microcephaly, Globus pallidus hypointensity ... ORPHA:135
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism ORPHA:3055
Androgen Insensitivity, Partial
Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ... OMIM:312300
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Adrenomyeloneuropathy
Distal sensory impairment, Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spina... ORPHA:139399
Manganese Poisoning
Abnormal globus pallidus morphology, Akinesia, Gait disturbance ORPHA:306682
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal intensity ORPHA:444013
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Decreased thalamic volume, Polymicrogyria, Type II lissenceph... ORPHA:370959
Japanese Encephalitis
Abnormality of the internal capsule, Abnormal thalamus morphology, Abnormal substantia nigra morp... ORPHA:79139
Primary Lateral Sclerosis
Spastic gait, Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of th... ORPHA:35689
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
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Microcepha... ORPHA:2570
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Gait ataxia, Ataxia OMIM:215470
Panhypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95513
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Abnormal thalamus morphology ORPHA:435638
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Inability to walk, Dystonia, Cryptorchidism, Premature pubarche ORPHA:457205
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Ataxia OMIM:619046
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Decreased testicular size, Cryptorchidism, Reduced social reciprocity, Increas... ORPHA:163976
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Dystonia, Gait ataxia, Cryptorchidism OMIM:618917
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Adenohypophysitis
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... ORPHA:95512
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Secondary microcephaly, Abnormal basal ganglia MRI signal intensity, Abnormal thalamic MRI signal... ORPHA:485421
Proximal Xq28 Duplication Syndrome
Gait disturbance, Hypospadias, Cryptorchidism ORPHA:1762
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity ORPHA:309155
Spinocerebellar Ataxia 21
Akinesia, Limb ataxia, Gait ataxia, Ataxia, Progressive cerebellar ataxia OMIM:607454
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Akinesia, Lewy bodies, Neurofibrillary tangles OMIM:616840
Corticobasal Syndrome
Akinesia, Gait disturbance, Somatic sensory dysfunction ORPHA:454887
Seckel Syndrome 8
Spinal cord compression OMIM:615807
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... ORPHA:231720
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Postencephalitic Parkinsonism
Abnormal substantia nigra morphology, Akinesia, Paresthesia ORPHA:97349
Aceruloplasminemia
Abnormal corpus striatum morphology, Chorea, Limb ataxia, Gait ataxia, Akinesia, Ataxia ORPHA:48818
46,Xy Sex Reversal 8
Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal OMIM:614279
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Polymicrogyria, Type II lissencephaly, Encephalocele, Agenesis of corpus callosum, Hydrocephalus,... OMIM:253800
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Broad-based gait, Gait ataxia, Cryptorchidism, Dysmetria, Hypogonadotropic hypogonadism, Micropen... OMIM:619761
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Cryptorchidism OMIM:615982
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Gait disturbance, Cryptorchidism, Tremor ORPHA:1192
Smith-Magenis Syndrome
Corticospinal tract hypoplasia, Impaired pain sensation, Aplasia/Hypoplasia of the corpus callosu... ORPHA:819
Tonne-Kalscheuer Syndrome
Broad-based gait, Decreased testicular size, Cryptorchidism, Tremor, Excessive shyness, Micropeni... OMIM:300978
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Decreased testicular size, Cryptorchidism, Excessive shyness, Increased circul... ORPHA:163971
Hydranencephaly
Cerebral cortical atrophy, Atrophic pituitary gland, Abnormal corpus striatum morphology, Dysgene... ORPHA:2177
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Steppage gait, Abnormal spinal cord morphology, Inability to walk by childhood/adolescence ORPHA:99947
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Hypoplastic anterior commissure, Hypoplasia of the corpus callosum OMIM:616975
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:610628
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Kallmann Syndrome
Ataxia, Abnormal morphology of female internal genitalia, Breast hypoplasia, Decreased testicular... ORPHA:478
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Leukoencephalopathy, Microcephaly, Cerebral calcification, Akinesia OMIM:619147
Image Syndrome
Hypogonadism, Hypospadias, Cryptorchidism ORPHA:85173
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Difficulty walking, Amyotrophic lateral sclerosis OMIM:613954
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Abnormal thalamus morphology ORPHA:2959
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypogonadism, Decreased testicular size, Gait ataxia, Cryptorchidism, Tremor, Micropenis, Hypospa... OMIM:300354
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612370
Kufor-Rakeb Syndrome
Akinesia, Gait disturbance, Distal sensory impairment, Ataxia OMIM:606693
Parkinson Disease 17
Akinesia OMIM:614203
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar... OMIM:614963
Laurence-Moon Syndrome
Ataxia, Hypoplasia of penis, Cryptorchidism, Displacement of the urethral meatus ORPHA:2377
Leigh Syndrome
Diffuse spongiform leukoencephalopathy, Neuronal loss in basal ganglia, Focal T2 hyperintense bas... ORPHA:506
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Abnormal thalamic MRI signal intensity ORPHA:70595
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:308700
Birk-Aharoni Syndrome
Micropenis, Cryptorchidism, Inability to walk OMIM:620071
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis OMIM:612702
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Hypogonadotropic hypogonadism, Ataxia, Micropenis, Testicular atrophy OMIM:308750
Rhombencephalosynapsis
Fusion of the left and right thalami, Ataxia ORPHA:59315
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:616030
48,Xxyy Syndrome
Decreased testicular size, Azoospermia, Cryptorchidism, Tremor, Ataxia, Infertility, Hypoplasia o... ORPHA:10
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Cerebral calcification, Abnormal basal ganglia morphology, Abnormal conus terminalis morphology, ... ORPHA:464321
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Akinesia, Gait ataxia, Ataxia, Dysdiadochokinesis ORPHA:247234
Congenital Myopathy 9A
Akinesia OMIM:618822
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelitis, Myelopathy, Difficulty walking, Gait imbalance, Spinal cord lesion... ORPHA:79093
Hypogonadotropic Hypogonadism 25 With Anosmia
Micropenis, Hypoplasia of the ovary, Cryptorchidism, Primary amenorrhea OMIM:618841
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Gait disturbance, Cryptorchidism ORPHA:85322
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gait disturbance, Cryptorchidism, Microphallus OMIM:300957
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Secondary microcephaly, Fusion of the left and right thalami, Hypoplasia of the corpus callosum OMIM:619306
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
N Syndrome
Hypospadias, Cryptorchidism OMIM:310465
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Snijders Blok-Fisher Syndrome
Opisthotonus, Cryptorchidism, Choreoathetosis OMIM:618604
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias... ORPHA:456328
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Gait disturbance OMIM:221770
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Reduced social reciprocity, Micropenis, Oligozoospermia,... ORPHA:8
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Supranuclear Palsy, Progressive, 2
Neuronal loss in basal ganglia, Falls, Neurofibrillary tangles, Akinesia, Gait imbalance, Granulo... OMIM:609454
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Amyotrophic Lateral Sclerosis 2, Juvenile
Tip-toe gait, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal upper motor neuron morp... OMIM:205100
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Micropenis, Cryptorchidism OMIM:202150
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Persistent Müllerian Duct Syndrome
Male pseudohermaphroditism, Cryptorchidism ORPHA:2856
Seizures-Scoliosis-Macrocephaly Syndrome
Broad-based gait, Cryptorchidism ORPHA:466926
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Paroxysmal bursts of laughter, Cryptorchidism, Ataxia ORPHA:228402
Mitochondrial Complex I Deficiency, Nuclear Type 28
Truncal ataxia, Akinesia, Choreoathetosis OMIM:618249
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait ... OMIM:601104
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Tremor, Ataxia OMIM:618060
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Shuffling gait, Lewy bodies, Akinesia ORPHA:411602
Tay-Sachs Disease
Inability to walk, Gait disturbance, Dysmetria, Abnormal thalamic MRI signal intensity ORPHA:845
Hereditary Cryohydrocytosis With Reduced Stomatin
Intracerebral periventricular calcifications, Microcephaly, Decreased thalamic volume, Cerebral w... ORPHA:168577
3-Methylglutaconic Aciduria, Type V
Decreased testicular size, Cryptorchidism, Ataxia, Nonprogressive cerebellar ataxia, Hypospadias OMIM:610198
Perry Syndrome
Short stepped shuffling gait, Akinesia OMIM:168605
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Truncal ataxia, Dystonia, Head titubation, Cryptorchidism ORPHA:88639
Chromosome Xq27.3-Q28 Duplication Syndrome
Increased circulating gonadotropin level, Decreased testicular size, Cryptorchidism, Hypogonadism OMIM:300869
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Breast hypoplasia, Decreased testicular size, Azo... ORPHA:432
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Classic Progressive Supranuclear Palsy Syndrome
Akinesia, Gait imbalance, Falls ORPHA:240071
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism ORPHA:1381
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Abnormal upper motor neuron morphology, Gait disturbance, Gait ataxia OMIM:601162
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Gait disturbance, Gait ataxia, Abnormal spinal cord morphology, Ataxia ORPHA:88628
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Abnormal spinal cord morphology ORPHA:53721
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal corpus callosum morphology, Broad-based gait, Hypoplastic anterior commissure, Impaired ... ORPHA:261552
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:244200
Meningioma
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Increased circulating prolactin... ORPHA:2495
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Hypothalamic atrophy, Abnormal substantia nigra morphology, Focal T2 h... ORPHA:2822
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Eye of the tiger anomaly of globus pallidus, Akinesia, Gait disturbance, Cerebral degener... OMIM:234200
Machado-Joseph Disease Type 3
Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Progressive gait atax... ORPHA:276244
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Difficulty walking, Inability to walk, Dysmetria, Gait disturbance, Abnormal spinal c... ORPHA:139396
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hypogonadism, Cryptorchidism OMIM:601794
Congenital Myopathy 12
Akinesia OMIM:612540
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia, Torticollis OMIM:314300
Cockayne Syndrome Type 2
Male hypogonadism, Difficulty walking, Cryptorchidism, Gait disturbance, Ataxia ORPHA:90322
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Dystonia, Cryptorchidism ORPHA:404451
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Autosomal Recessive Amelia
Small scrotum, Hypoplasia of penis, Cryptorchidism ORPHA:1027
Ziegler-Huang Syndrome
Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p... OMIM:620501
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testicular size, De... ORPHA:90796
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Testicular seminoma, Cryptorchidism ORPHA:281090
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Intellectual Developmental Disorder, Autosomal Recessive 65
Supernumerary nipple, Gait ataxia, Cryptorchidism, Unsteady gait, Hypospadias OMIM:618109
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Small scrotum, Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism ORPHA:168593
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Overfriendli... ORPHA:96264
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Tremor, Infe... ORPHA:96263
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum, Microcepha... OMIM:610828
Stt3A-Cdg
Micropenis, Small scrotum, Cryptorchidism ORPHA:370921
Gaucher Disease, Perinatal Lethal
Microcephaly, Akinesia OMIM:608013
Reni Syndrome
Hypogonadism, Micropenis, Cryptorchidism, Ataxia OMIM:617575
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Abnormal labia majora morphology, Congenital adrenal hyperplasia, Decreased... ORPHA:90791
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Microphallus, Bifid scrotum, Absent scrotum, Cryptorchidism, Adrenal hyperplasia, Male pseudoherm... OMIM:201810
Dpagt1-Cdg
Cerebral cortical atrophy, Inability to walk, Akinesia, Hypoplasia of the corpus callosum, Microc... ORPHA:86309
Craniosynostosis With Fibular Aplasia
Cryptorchidism OMIM:218550
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Ataxia OMIM:620012
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Cryptorchidism, Displacement of the urethral meatus, Micropenis, Ventral shortenin... ORPHA:95706
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:147950
African Trypanosomiasis
Myelitis, Myelopathy, Somatic sensory dysfunction, Difficulty walking, Akinesia, Paresthesia, Gai... ORPHA:3385
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Microcephaly, Abnormal pituitary gland morphology, Agenesis of ... ORPHA:314621
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cryptorchidism, Dysmetria, Intention tremor, Gait disturbance, Ataxia, Nonprogressive cerebellar ... OMIM:301310
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... OMIM:615849
Sifrim-Hitz-Weiss Syndrome
Gait imbalance, Cryptorchidism, Hypogonadotropic hypogonadism, Ambiguous genitalia, Micropenis OMIM:617159
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Abnormality of the diencephalon ORPHA:2720
Superficial Siderosis
Limb ataxia, Dysmetria, Progressive gait ataxia, Atrophy of the spinal cord, Abnormal spinal cord... ORPHA:247245
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Agenesis of corpus callosum OMIM:618929
Arthrogryposis Multiplex Congenita 5
Microcephaly, Akinesia OMIM:618947
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia OMIM:300200
Bickerstaff Brainstem Encephalitis
Ataxia, Abnormal thalamic MRI signal intensity ORPHA:79138
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Cerebral calcification, Abnormal ... ORPHA:54595
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Cryptorchidism, Primary amenorrhea ORPHA:95496
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Gait disturbance, Loss of ambulation, Ataxia OMIM:614298
Amoebiasis Due To Free-Living Amoebae
Abnormal cerebral cortex morphology, Abnormal basal ganglia morphology, Abnormal hypothalamus mor... ORPHA:68
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo... ORPHA:2232
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism ORPHA:1338
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Hypoplastic nipples, Absent nipple, Cryptorchidism, Male urethral meatus stenosis OMIM:616001
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Williams Syndrome
Cerebral cortical atrophy, Gait imbalance, Dysmetria, Microcephaly, Gait disturbance, Ataxia, Spi... ORPHA:904
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism OMIM:619718
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Meacham Syndrome
Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Ambiguous genitalia, Abnormal fallo... ORPHA:3097
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis ORPHA:803
Waardenburg Syndrome, Type 4C
Hypogonadism, Cryptorchidism, Lacrimal gland hypoplasia OMIM:613266
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul... OMIM:236700
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Mosaic Trisomy 20
Abnormal spinal cord morphology ORPHA:1724
Limb Body Wall Complex
Spina bifida occulta, Abnormal spinal cord morphology, Spina bifida ORPHA:2369
Norrie Disease
Cerebral cortical atrophy, Microcephaly, Abnormality of the diencephalon 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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