Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
Synonyms:
apoER2,  4932703M08Rik,  Lr8b

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Lrp8 mutations

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

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

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

The table below shows human diseases predicted to be associated to Lrp8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Schizophrenia 19
Cognitive impairment OMIM:617629
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant
Cognitive impairment, Dementia OMIM:618564
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Megalencephaly, Pachygyria, Lissencephaly OMIM:614499
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Abnormal cerebral white matter morphology, Agyria, Secondary... OMIM:607432
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Gordon Holmes Syndrome
Infertility, Dementia, Oligomenorrhea, Cerebral atrophy, Cerebellar atrophy, Hypogonadotropic hyp... OMIM:212840
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Corpus callosum atrophy, Dementia, Abnormal sperm head morph... ORPHA:320391
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dys... OMIM:604213
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, M... OMIM:611603
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular heterotop... OMIM:608097
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:614373
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Gray matter heterotopia... ORPHA:300573
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Agenesis of corpus callosum, Gray matter heterotopia OMIM:600348
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Cerebellar atrophy, Cognitive impairment, Male infertility ORPHA:276183
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Symmetrical Thalamic Calcifications
Cognitive impairment, Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Leukoencephalopathy, Progressive, With Ovarian Failure
Dementia, Progressive leukoencephalopathy, Periventricular leukomalacia, Cerebellar atrophy, Leuk... OMIM:615889
Periventricular Nodular Heterotopia 7
Cryptorchidism, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, P... OMIM:617201
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Frontoparietal cortical... OMIM:610031
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Thick cerebral cortex, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Periventricular ... OMIM:618677
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Microcephaly, Cortical dysplasia, Abnormality of neuronal mi... OMIM:618709
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Maternal Hyperthermia-Induced Birth Defects
Cognitive impairment, Microcephaly, Hypoplasia of penis, Abnormality of neuronal migration ORPHA:2216
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy, Cerebellar atrophy, Cognitive impairment OMIM:613909
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly, Cerebellar hypoplasia OMIM:618572
Polymicrogyria, Bilateral Perisylvian, X-Linked
Cognitive impairment, Polymicrogyria OMIM:300388
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Bilateral Striopallidodentate Calcinosis
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1980
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Lissencephaly 5
Porencephalic cyst, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus call... OMIM:615191
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Gonadal dysgenesis, Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Congenital Hydrocephalus
Colpocephaly, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Hydrocephalus,... ORPHA:2185
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology, Cerebe... ORPHA:352682
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Isolated Focal Cortical Dysplasia
Thick cerebral cortex, Psychomotor deterioration, Abnormal cortical gyration, Hyperintensity of c... ORPHA:65683
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Oligospermia, Oligomenorrhea, De... ORPHA:52901
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Cach Syndrome
Progressive neurologic deterioration, T2 hypointense thalamus, Cerebral atrophy, Primary amenorrh... ORPHA:135
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Cerebral Palsy, Spastic Quadriplegic, 3
Cognitive impairment, Microcephaly, Gray matter heterotopia OMIM:617008
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus, Cerebral calcification ORPHA:73256
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of c... ORPHA:2512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Anencephaly... OMIM:615287
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Cryptorchidism, Ambiguous genitalia, Aplasia/Hypoplasia of the cerebellum, Abnormality of neurona... ORPHA:2772
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia, Cerebellar cyst, Abnormal cerebral white matter morphology, ... ORPHA:370980
Brain Small Vessel Disease 2
Polymicrogyria, Porencephalic cyst, Subcortical heterotopia, Schizencephaly OMIM:614483
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia, Polymicrogyr... OMIM:615181
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Colpocephaly ORPHA:401815
Hemimegalencephaly
Pachygyria, Gray matter heterotopia, Polymicrogyria, Hyperintensity of cerebral white matter on M... ORPHA:99802
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Abnormality of neuronal mi... ORPHA:945
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Mental Retardation, Autosomal Dominant 13
Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Abnormality of neuronal mig... OMIM:614563
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Simpl... OMIM:616212
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebella... OMIM:617751
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Microphallus, Abnormal cerebral white matter morphology, Cerebellar vermis hypopl... OMIM:300957
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebral white matter morphology, Ce... OMIM:613153
Oculocerebrocutaneous Syndrome
Cryptorchidism, Gray matter heterotopia, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:164180
Walker-Warburg Syndrome
Cryptorchidism, Pachygyria, Hydrocephalus, Absent septum pellucidum, Cerebellar hypoplasia, Abnor... ORPHA:899
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia, Cerebellar cyst, Cereb... OMIM:615960
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis OMIM:613954
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:616816
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612650
Lissencephaly Syndrome, Norman-Roberts Type
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Abnormality of neuronal migration... ORPHA:89844
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Subependymal Nodular Heterotopia
Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Focal cortical dyspla... ORPHA:101030
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormal periventricular white matter morphology, Cerebellar hypoplasia, Abnormality ... OMIM:608840
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dilation of lateral ventricles, Spina bifida occulta, Microcephaly, Agenesis of corpus callosum, ... OMIM:618736
Acromelic Frontonasal Dysostosis
Cryptorchidism, Gray matter heterotopia, Hypoplasia of the corpus callosum, Hypopituitarism, Retr... OMIM:603671
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia... ORPHA:370959
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:205100
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Diffuse cerebral atrophy, Corpus callosum atrophy, Dilation of lateral ventricles ORPHA:77299
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy OMIM:606353
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Colpocephaly, Lissencephaly OMIM:615219
Progressive Non-Fluent Aphasia
Senile plaques, Temporal cortical atrophy, Abnormal lower motor neuron morphology, Frontotemporal... ORPHA:100070
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Abnormal s... ORPHA:330015
Dysplastic Cortical Hyperostosis
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal... OMIM:105550
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles OMIM:618890
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Abnormal periventricular white matter morphology, Hydrocephalus, Periventricular heterotopia, Abn... OMIM:618476
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Ciliary Dyskinesia, Primary, 19
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:614935
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Neu-Laxova Syndrome
Ambiguous genitalia, Spina bifida, Abnormal cerebellar vermis morphology, Pachygyria, Absent sept... ORPHA:2671
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Cognitive impairment ORPHA:90646
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus callosum OMIM:617296
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Azoospermia, Aplasia of the ... ORPHA:90797
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia, Hypoplasia of the corpus ca... ORPHA:255138
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology OMIM:615280
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Scrotal hypoplasia, Cerebella... OMIM:617822
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Bifid scrotum, Abnormal penis morphology, Shawl scrotum, Abnormality of ... ORPHA:2211
Thanatophoric Dysplasia Type 2
Holoprosencephaly, Patent ductus arteriosus, Abnormality of neuronal migration, Cognitive impairm... ORPHA:93274
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology OMIM:613724
Chiari Malformation Type Ii
Spina bifida, Hydrocephalus, Gray matter heterotopia, Arnold-Chiari malformation, Myelomeningocel... OMIM:207950
Desmosterolosis
Ambiguous genitalia, Pachygyria, Hydrocephalus, Absent septum pellucidum, Patent ductus arteriosu... ORPHA:35107
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Cerebral atrophy, Paucity of anterior horn motor neurons OMIM:611890
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Primary microcephaly, Simpli... ORPHA:284417
Joubert Syndrome 30
Superior cerebellar dysplasia, Cerebellar atrophy, Dandy-Walker malformation, Gray matter heterot... OMIM:617622
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Agenesis of corpus callosum, Urogenital sinus anomaly, Arnold-Chiari malformation... OMIM:618820
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis, Secondary amenorrhea, ... OMIM:228300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Su... OMIM:614643
Lissencephaly Due To Lis1 Mutation
Cavum septum pellucidum, Pachygyria, Thick cerebral cortex, Anterior predominant thick cortex pac... ORPHA:95232
Leber Congenital Amaurosis
Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migration ORPHA:65
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary ame... ORPHA:79239
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Cerebellar hypoplasia, Patent ductus arteriosus, Polymicrogyria, Cerebra... OMIM:617397
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Weiss-Kruszka Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618619
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility, Hydrocephalus ORPHA:244
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Cerebellar atrophy, Spinocerebellar atrophy OMIM:215470
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Hypoplasia of the corpus callosum, Microcephaly, Dandy-Walker malformati... OMIM:618606
Carnitine Palmitoyltransferase Ii Deficiency
Pachygyria, Hydrocephalus, Renal tubular epithelial necrosis, Cerebellar vermis hypoplasia, Abnor... ORPHA:157
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Glutamine Deficiency, Congenital
Subependymal cysts, Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:610015
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cryptorchidism, Abnormal periventricular white matter morphology, Periventricular heterotopia, Co... ORPHA:468631
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Multifocal hyperintensity of cerebral white ... ORPHA:488627
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellum, Microcephaly, Abnormality of neu... ORPHA:2518
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Normal pressure hydrocephalus, Hypopla... ORPHA:300570
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cryptorchidism, Hypoplasia of the corpus callosum, Cerebral atrophy, Patent ductus arteriosus, Ce... OMIM:618659
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma... ORPHA:275872
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cognitive impairment, Cryptorchidism, Abnormality of neuronal migration ORPHA:2063
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum, Decreased resp... OMIM:609053
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter morpho... ORPHA:565624
Galloway-Mowat Syndrome
Cognitive impairment, Microcephaly, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Microcephaly, Dilation of lateral ventricles, Dandy-Walker malformation ORPHA:3078
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Elevated circulating luteinizing hormone level, Increased circulating gonadotropin ... ORPHA:90793
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles ORPHA:420179
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
6Q Terminal Deletion Syndrome
Gray matter heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callosum, Abnormal... ORPHA:75857
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Hypoplasia of penis, Hyp... ORPHA:7
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Abnormality of neuronal ... ORPHA:475
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... OMIM:606070
16P13.11 Microdeletion Syndrome
Cryptorchidism, Holoprosencephaly, Abnormality of neuronal migration, Microcephaly, Agenesis of c... ORPHA:261236
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Pachygyria, Hydrocephalus, Renal tubular epithelial necrosis, Cerebellar vermis hypoplasia, Intra... ORPHA:228308
Neurocutaneous Melanocytosis
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Meningocele, Arnold-Chia... ORPHA:2481
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Cerebral atrophy, Caudate atrophy OMIM:221770
Vici Syndrome
Gray matter heterotopia, Cerebellar hypoplasia, Cerebral cortical atrophy, Agenesis of corpus cal... ORPHA:1493
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia OMIM:300624
Li-Ghorbani-Weisz-Hubshman Syndrome
Hypoplasia of the corpus callosum, Periventricular heterotopia OMIM:618974
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Abnormali... ORPHA:2318
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Brain atrophy ORPHA:52430
Edinburgh Malformation Syndrome
Hydrocephalus, Abnormality of neuronal migration ORPHA:1895
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral calcification, Abnor... ORPHA:1855
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Ovarian cyst, Porencephalic cyst, Hydrocephalus, Gray matter heterotopia,... OMIM:311200
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Gray matter heterotopia, Cerebellar vermis hyp... OMIM:304050
Thanatophoric Dysplasia
Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia ORPHA:2655
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dilation of lateral ventricles, Abnor... ORPHA:397715
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia ORPHA:531151
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Dysplas... ORPHA:314679
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly OMIM:618651
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Cerebellar atrophy OMIM:607694
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral atrophy, Cerebral wh... ORPHA:572798
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology, Communicating hydrocephalus OMIM:244400
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Hypoplasia of the corpus ca... ORPHA:2822
Holoprosencephaly
Panhypopituitarism, Cryptorchidism, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of t... ORPHA:2162
Vici Syndrome
Penile hypospadias, Gray matter heterotopia, Cerebellar vermis hypoplasia, Schizencephaly, Microc... OMIM:242840
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia, Abnormal hippocampus morphology, Cerebellar atrophy, Thick c... ORPHA:352582
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Interhypothalamic Adhesion, Periventricular heterotopia, Micropenis, Agenesis of ... OMIM:618929
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Male infertility, Micropenis, A... ORPHA:1772
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly ORPHA:261250
Pagod Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:991
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Radio-Tartaglia Syndrome
Microcephaly, Precocious puberty, Agenesis of corpus callosum, Gray matter heterotopia OMIM:619312
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Hypoplasia of the corpus callosum, Dilation of lateral ventricles OMIM:618914
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Van Maldergem Syndrome 2
Cryptorchidism, Bifid scrotum, Gray matter heterotopia, Hypoplasia of the corpus callosum, Microp... OMIM:615546
Miller-Dieker Lissencephaly Syndrome
Cavum septum pellucidum, Cryptorchidism, Pachygyria, Gray matter heterotopia, Hypoplasia of the c... OMIM:247200
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Simplified gyral pattern,... OMIM:601390
Alg11-Cdg
Cerebral white matter atrophy, Gray matter heterotopia, Abnormal cerebral white matter morphology... ORPHA:280071
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Basal ganglia cysts, Intracerebral periventricular calcifications, Abnormality of neuronal migrat... OMIM:608836
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, ... ORPHA:2754
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Superficial Siderosis
Dementia, Abnormal corpus callosum morphology, Cerebellar atrophy, Dysgyria, Cognitive impairment... ORPHA:247245
Cog5-Cdg
Microcephaly, Diffuse cerebral atrophy, Cerebral white matter atrophy, Dilation of lateral ventri... ORPHA:263487
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Abnormality of n... ORPHA:192
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Septo-optic d... OMIM:301043
Woodhouse-Sakati Syndrome
Mental deterioration, Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Str... ORPHA:3464
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Microcephaly, Agenesis of corpus callosum OMIM:309801
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Patent ductus... OMIM:214100
Thanatophoric Dysplasia, Type I
Hydrocephalus, Gray matter heterotopia OMIM:187600
Renal Cysts And Diabetes Syndrome
Reduced sperm motility, Hypoplasia of the uterus, Epididymal cyst, Cerebral cortical atrophy, Bic... OMIM:137920
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal corpus callosum morphology, Cavum septum pellucidum, Abnormal cerebral white matter morp... ORPHA:457279
Distal Monosomy 10Q
Cavum septum pellucidum, Microcephaly, Dilation of lateral ventricles, Spina bifida occulta ORPHA:96148
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Hypoplasia of the corpus callosum, Cerebral atrophy, Gray matter heterotopia OMIM:618797
Man1B1-Cdg
Cerebellar hypoplasia, Periventricular heterotopia ORPHA:397941
Hydrolethalus Syndrome 1
Bifid uterus, Severe hydrocephalus, Abnormal vagina morphology, Absent septum pellucidum, Gray ma... OMIM:236680
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Macroorch... ORPHA:91
Orofaciodigital Syndrome Xiv
Cryptorchidism, Periventricular heterotopia, Hypoplasia of the corpus callosum, Holoprosencephaly... OMIM:615948
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia... ORPHA:228123
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Dilated third ventr... ORPHA:464738
Ritscher-Schinzel Syndrome 3
Periventricular nodular heterotopia, Cryptorchidism, Cerebellar vermis hypoplasia OMIM:619135
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ectopic posterior pituitary, Abnormality of n... ORPHA:98889
Machado-Joseph Disease Type 3
Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, Degeneration of anter... ORPHA:276244
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Abnormality of neuro... ORPHA:464311
Bohring-Opitz Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus call... OMIM:605039
Intellectual Developmental Disorder, Autosomal Dominant 64
Periventricular nodular heterotopia, Microcephaly, Cerebellar hypoplasia OMIM:619188
Kohlschutter-Tonz Syndrome-Like
Secondary microcephaly, Ventriculomegaly, Microcephaly, Dilation of lateral ventricles OMIM:619229
Opitz-Kaveggia Syndrome
Cryptorchidism, Gray matter heterotopia, Hypospadias, Hydrocephalus, Partial agenesis of the corp... OMIM:305450
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia ORPHA:1860
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Male infertility OMIM:227650
Mosaic Trisomy 1
Polymicrogyria, Agenesis of corpus callosum, Dilation of lateral ventricles ORPHA:1692
Joubert Syndrome With Hepatic Defect
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Cerebellar vermi... ORPHA:1454
Khan-Khan-Katsanis Syndrome
Microcephaly, Colpocephaly OMIM:618460
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Periventricular heterotopia, Hydrocephalus, H... OMIM:270400
Periventricular Nodular Heterotopia 9
Gray matter heterotopia, Hypoplasia of the corpus callosum, Polymicrogyria, Periventricular nodul... OMIM:618918
Orofaciodigital Syndrome Type 14
Periventricular heterotopia, Hypoplasia of the corpus callosum, Bilateral cryptorchidism, Patent ... ORPHA:434179
Koolen-De Vries Syndrome
Cryptorchidism, Gray matter heterotopia, Hypoplasia of the corpus callosum, Patent ductus arterio... OMIM:610443
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Absent septum pellucidum, Periventricular heterotopia OMIM:618870
Weaver Syndrome
Dilation of lateral ventricles, Absent septum pellucidum OMIM:277590
Diphallia
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Ectopic scrotum, Hypospadias, Bifid pen... ORPHA:227
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Pachygyria, Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephal... OMIM:210710
Fontaine Progeroid Syndrome
Cryptorchidism, Gray matter heterotopia, Periventricular heterotopia, Hypoplasia of the corpus ca... OMIM:612289
Cystinosis, Nephropathic
Progressive neurologic deterioration, Male hypogonadism, Cerebral atrophy, Cerebral calcification... OMIM:219800
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia ORPHA:477993
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Cerebral cortical atrophy, Microcephaly, Dilation of lateral ventr... ORPHA:177907
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypoplasia of the corpus callosum, Cryptorchidism, Microcephaly, Gray matter heterotopia ORPHA:453499
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Neurodegeneration, Abnormal lower motor neuron morphology OMIM:614298
Nijmegen Breakage Syndrome
Microcephaly, Mental deterioration, Abnormality of neuronal migration ORPHA:647
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligospermia ORPHA:125
Arima Syndrome
Gray matter heterotopia, Occipital meningocele, Dilated fourth ventricle, Aplasia/Hypoplasia of t... OMIM:243910
Neuromuscular Oculoauditory Syndrome
Agenesis of corpus callosum, Periventricular heterotopia OMIM:618733
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Ataxia-Telangiectasia
Female hypogonadism, Abnormal spermatogenesis OMIM:208900
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Dilation of lateral ventricles OMIM:612301
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Gray matter heterotopia ORPHA:26791
Mismatch Repair Cancer Syndrome 1
Agenesis of corpus callosum, Gray matter heterotopia OMIM:276300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Microcephaly, Abnormality of neuronal migration ORPHA:3186
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Dilation of lateral ventricles OMIM:263520
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cryptorchidism, Gray matter heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Agenesi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cryptorchidism, Gray matter heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Agenesi... ORPHA:352665
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Hydrocele testis, Periventricular heterotopia, Chordee, Cerebral white matter hyp... ORPHA:261537
Genitopatellar Syndrome
Cryptorchidism, Colpocephaly, Periventricular heterotopia, Clitoral hypertrophy, Scrotal hypoplas... OMIM:606170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hydrocele testis, Periventricular heterotopia, Chordee, Patent ductus arteriosus,... ORPHA:261552
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal corpus callosum morphology, Secondary microcephaly, Abnormal lateral ventricle morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal corpus callosum morphology, Secondary microcephaly, Abnormal lateral ventricle morphology ORPHA:353277
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Abnormal cereb... ORPHA:500150
Mowat-Wilson Syndrome
Cryptorchidism, Hydrocele testis, Periventricular heterotopia, Chordee, Patent ductus arteriosus,... ORPHA:2152
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Dilation of lateral ventricles OMIM:300896
Choreoacanthocytosis
Frontal cortical atrophy, Hypoplastic hippocampus, Cerebral cortical atrophy, Abnormal hippocampu... ORPHA:2388
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Paucity of anterior horn motor neurons ORPHA:79139
Noonan Syndrome 1
Cryptorchidism, Patent ductus arteriosus, Hypospadias, Hypogonadism, Male infertility OMIM:163950
Chromosome 1P36 Deletion Syndrome
Pachygyria, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral cortical atr... OMIM:607872
Cystic Fibrosis
Male infertility OMIM:219700
Proteus Syndrome
Ovarian neoplasm, Long penis, Gray matter heterotopia, Macroorchidism, Testicular neoplasm, Enlar... ORPHA:744

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 Lrp8

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 Lrp8.

No publications found that use IMPC mice or data for Lrp8.

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MGI Allele Allele Type Produced
Lrp8tm428845(L1L2_Bact_P) Targeting vectors
Lrp8tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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