Gene Summary

Name:
ephrin A5
Synonyms:
AL-1,  RAGS,  Ephrin-A5,  Epl7,  EFL-5,  LERK-7

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased fasting circulating glucose level Efna5tm1b(EUCOMM)Wtsi HOM Early adult 4.84×10-07
decreased grip strength Efna5tm1b(EUCOMM)Wtsi HOM Early adult 7.46×10-05
hyperactivity Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-09
male infertility Efna5tm1b(EUCOMM)Wtsi HOM Early adult 0.00
hypoactivity Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.12×10-05
increased anxiety-related response Efna5tm1b(EUCOMM)Wtsi HOM Early adult 6.31×10-05
increased thigmotaxis Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.49×10-05
abnormal behavior Efna5tm1b(EUCOMM)Wtsi HOM Early adult 1.49×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Human diseases caused by Efna5 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 Efna5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microcephaly 7, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Simplified gyral pattern OMIM:616080
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Mental Retardation, Autosomal Recessive 34, With Variant Lissencephaly
Pachygyria, Lissencephaly OMIM:614499
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Agyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:615412
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Agyria, Subcortical band heterotopia, Lissencephaly OMIM:615411
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Ectopic anus, Cleft palate ORPHA:2476
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Polymicrogyria, Bilateral Perisylvian, Autosomal Recessive
Perisylvian polymicrogyria OMIM:615752
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Lissencephaly 1
Pachygyria, Gray matter heterotopia, Agyria, Subcortical band heterotopia, Lissencephaly OMIM:607432
Diprosopus
Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Simplifie... OMIM:604317
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Schisis Association
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Cleft palate, Microcephaly, Trache... ORPHA:63862
Congenital Herpes Simplex Virus Infection
Microcephaly, Hydranencephaly ORPHA:293
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Cleft palate OMIM:614120
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Microcephaly, Optic... ORPHA:1528
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Depression, Impaired glucose tolerance, Anxiety, Diabetes mellitus OMIM:614296
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth OMIM:300073
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Lissencephaly, Gray matter heterotopia OMIM:300067
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Agenesi... OMIM:218670
Hydrocephalus, Congenital, 3, With Brain Anomalies
Holoprosencephaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation OMIM:617967
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Lissencephaly 3
Pachygyria, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly OMIM:611603
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Pachygyria, Agyria, Gray matter heterotopia ORPHA:1084
Band Heterotopia
Polymicrogyria, Subcortical band heterotopia, Gray matter heterotopia OMIM:600348
Joubert Syndrome 13
Pachygyria OMIM:614173
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Microcephaly, Hydranencephaly, Cleft palate OMIM:601355
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Cleft palate, Microcephaly, Agenesis... OMIM:611134
Hydrolethalus
Hydrocephalus, Absent septum pellucidum, Arrhinencephaly, Anencephaly, Gingival cleft, Unilateral... ORPHA:2189
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:1908
Immunodeficiency 8
Hyperactivity OMIM:615401
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Cerebellar hypop... OMIM:615287
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:2570
Meckel Syndrome, Type 2
Meningocele, Dandy-Walker malformation, Anencephaly, Cleft palate OMIM:603194
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Anal atresia, Myelomeningocele ORPHA:63260
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Anencephaly, Anal atresia, Microcep... ORPHA:1590
Meckel Syndrome, Type 10
Anencephaly, Cleft palate OMIM:614175
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Microcephaly,... OMIM:225790
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Meckel Syndrome, Type 5
Cleft upper lip, Anencephaly, Cleft palate OMIM:611561
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Anxiety, Ataxia OMIM:618970
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia OMIM:618572
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hypoplasia of the brainstem, Stillbirth, Cerebellar hypoplasia, Neonatal death, Hydranencephaly OMIM:236500
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia ORPHA:352682
Chudley-Mccullough Syndrome
Polymicrogyria, Gray matter heterotopia OMIM:604213
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Meningocele, Hydranencephaly, Glossoptosis, Cerebral calcificat... ORPHA:1393
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Meckel Syndrome, Type 6
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:612284
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Ag... OMIM:605013
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Periventricular ribbonlike heterotopia, Lissencephaly OMIM:618677
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Huntington Disease-Like 2
Dystonia, Depression, Apathy, Bradykinesia, Irritability, Anxiety OMIM:606438
Iniencephaly
Spina bifida, Narrow mouth, Holoprosencephaly, Spinal dysraphism, Anencephaly, Oral cleft, Duoden... ORPHA:63259
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Short philtrum, Advanced eruption of teeth, Open mouth, High palate, P... OMIM:619148
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Fryns Microphthalmia Syndrome
Bilateral cleft lip and palate, Neural tube defect OMIM:600776
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Cleft palate, Hydrocephalus ORPHA:945
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Classic Galactosemia
Decreased fertility in females, Dystonia, Lethargy, Depression, Oligomenorrhea, Gait imbalance, G... ORPHA:79239
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Pelvis-Shoulder Dysplasia
Spina bifida, Microglossia, Hydranencephaly, Cleft palate, Hydrocephalus, Thick anterior alveolar... ORPHA:2839
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Pentalogy Of Cantrell
Non-midline cleft lip, Anencephaly, Oral cleft, Cleft palate, Hydrocephalus ORPHA:1335
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Thoracoabdominal Syndrome
Cleft upper lip, Hydrocephalus, Anencephaly, Cleft palate OMIM:313850
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Trisomy 18
Spina bifida, Narrow palate, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Holoprosenc... ORPHA:3380
Early-Onset Schizophrenia
Low self esteem, Attention deficit hyperactivity disorder, Depression, Abnormal emotion/affect be... ORPHA:96369
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Blepharocheilodontic Syndrome 1
Hypodontia, Neural tube defect, Anal atresia, Cleft upper lip, Conical tooth OMIM:119580
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility, Anxiety, Hypoglycemia OMIM:615962
49,Xxxxy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Taurodont... ORPHA:96264
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Anencephaly, Polymicrogyria, Cleft palate, Hydrocephalus OMIM:616546
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Vacterl/Vater Association
Non-midline cleft lip, Anencephaly, Anal atresia, Cleft palate, Tracheoesophageal fistula ORPHA:887
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Familial Male-Limited Precocious Puberty
Male infertility, Attention deficit hyperactivity disorder, Oligospermia ORPHA:3000
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy ORPHA:1114
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Lissencephaly 5
Subcortical band heterotopia, Type II lissencephaly, Gray matter heterotopia OMIM:615191
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Holoprosencephaly, Natal tooth, Intestinal malrotation, Hamartoma of... OMIM:269860
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Meckel Syndrome, Type 1
Agenesis of corpus callosum, Natal tooth, Cerebellar hypoplasia, Intestinal malrotation, Anenceph... OMIM:249000
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia OMIM:614483
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria, Irritability ORPHA:2089
Holoprosencephaly 11
Holoprosencephaly, Cleft lip, Cleft palate, Microcephaly, Agenesis of corpus callosum OMIM:614226
Caudal Regression Sequence
Oral cleft, Arrhinencephaly, Anal atresia ORPHA:3027
Cousin Syndrome
Microglossia, Hydranencephaly, Cleft palate, Alveolar ridge overgrowth, Hydrocephalus OMIM:260660
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Polymicrogyria Due To Tubb2B Mutation
Pachygyria, Gray matter heterotopia, Polymicrogyria, Perisylvian polymicrogyria, Lissencephaly ORPHA:300573
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Mental Retardation, Autosomal Dominant 13
Pachygyria, Abnormality of neuronal migration OMIM:614563
Hemimegalencephaly
Polymicrogyria, Pachygyria, Gray matter heterotopia ORPHA:99802
Lissencephaly 6 With Microcephaly
Pachygyria, Periventricular heterotopia, Polymicrogyria, Simplified gyral pattern, Microlissencep... OMIM:616212
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Meckel Syndrome
Aplasia/Hypoplasia of the corpus callosum, Aplasia/Hypoplasia of the tongue, Anencephaly, Furrowe... ORPHA:564
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Intestinal malrotation... OMIM:156810
Hydrolethalus Syndrome 1
Agenesis of corpus callosum, Stillbirth, Absent septum pellucidum, Arrhinencephaly, Anencephaly, ... OMIM:236680
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Esophageal atresia, Aqueductal stenosis, Anal atresia, Tracheoesop... ORPHA:3412
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia ORPHA:2512
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Stillbirth, Cerebellar hypoplasia, Hydranencephaly, Cleft upp... OMIM:256520
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Acropectorovertebral Dysplasia
Spina bifida, High, narrow palate, Cleft palate ORPHA:957
Limb Body Wall Complex
Spina bifida, Short umbilical cord, Anencephaly, Cleft lip, Spina bifida occulta, Cleft palate, A... ORPHA:2369
Fryns Syndrome
Meckel diverticulum, Long philtrum, Hypoplasia of the optic tract, Stillbirth, Arrhinencephaly, H... OMIM:229850
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Agenesis of corpus callosum, ... OMIM:174300
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Acrofacial Dysostosis, Rodríguez Type
Arrhinencephaly, Aqueductal stenosis ORPHA:1788
Congenital Muscular Dystrophy Without Intellectual Disability
Pachygyria, Gray matter heterotopia ORPHA:370980
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Doors Syndrome
Narrow palate, Open mouth, Downturned corners of mouth, Sirenomelia, Spina bifida occulta, High p... ORPHA:79500
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Falls, Anxiety, Diabetes mellitus ORPHA:3198
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Pachygyria, Abnormality of neuronal migration OMIM:608840
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Gray matter heterotopia ORPHA:101030
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Impotence, Inappropriate sexual behavior, H... ORPHA:43
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Enlarged Parietal Foramina
Encephalomalacia, Myelomeningocele, Cleft lip, Cleft palate ORPHA:60015
Leber Congenital Amaurosis
Abnormality of neuronal migration ORPHA:65
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Ring Chromosome 13 Syndrome
Short philtrum, High palate, Anencephaly, Anal atresia, Abnormality of the incisor, Microcephaly,... ORPHA:96176
Microphthalmia With Limb Anomalies
Long philtrum, Thin vermilion border, Arrhinencephaly, Cleft upper lip, Cleft palate, High palate... ORPHA:1106
22Q11.2 Deletion Syndrome
Long philtrum, Spina bifida, Carious teeth, Short philtrum, Narrow mouth, Abnormal dental enamel ... ORPHA:567
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Absent septum pellucidum, Perineal fistula, Arrhinencephaly, Intestin... ORPHA:2538
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
47,Xyy Syndrome
Azoospermia, Oligospermia, Impulsivity, Hyperactivity, Male infertility, Attention deficit hypera... ORPHA:8
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft upper lip, Cleft palate OMIM:614402
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, D... ORPHA:449291
Yunis-Varon Syndrome
Thin vermilion border, Short philtrum, Pachygyria, Arrhinencephaly, Cerebellar hypoplasia, Premat... OMIM:216340
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Hydrocephalus ORPHA:2736
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Lissencephaly Syndrome, Norman-Roberts Type
Microlissencephaly, 4-layered lissencephaly, Abnormality of neuronal migration ORPHA:89844
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Yunis-Varon Syndrome
Thin vermilion border, Short philtrum, Pachygyria, Agenesis of corpus callosum, Arrhinencephaly, ... ORPHA:3472
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphis... ORPHA:1926
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:300958
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Ataxia, Limb dystonia, Hyperactivity ORPHA:363400
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Aggressive behavior, Hyperactivity, Hypogonadism, Mood swings OMIM:300354
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Hyperactivity OMIM:616809
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Type I diabetes mellitus, Hyperglycemia, Glycosuria OMIM:618857
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp... OMIM:103050
Hypomelanosis Of Ito
Gray matter heterotopia OMIM:300337
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Hypogonadism, Aggressive behavior, Self-biting ORPHA:3306
Aicardi-Goutières Syndrome
Porencephalic cyst, Hypoplasia of the corpus callosum, Arrhinencephaly, Degeneration of the stria... ORPHA:51
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Simplified gyral pattern, Lissencephaly, Gray matter heterotopia OMIM:615219
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Emotional lability, Unsteady gait, Impulsivity, Hyperactivity ORPHA:35069
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Tetrasomy 18P
Abnormality of neuronal migration ORPHA:3307
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
Pallister-Hall Syndrome
Natal tooth, Pituitary hypothyroidism, Abnormal basal ganglia MRI signal intensity, Arrhinencepha... ORPHA:672
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity OMIM:601853
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Microcephaly, Spinal dysraphism, Cleft palate OMIM:617660
Joubert Syndrome 30
Gray matter heterotopia OMIM:617622
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Walker-Warburg Syndrome
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyration, Macrog... ORPHA:899
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hyperactivity, Hypogonadism, Attention deficit hyperactivity di... ORPHA:73272
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Pachygyria, Type II lissencephaly, Gray matter heterotopia, Subcortical heterotopia, Polymicrogyr... OMIM:614643
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... ORPHA:168491
Charge Syndrome
Gonadotropin deficiency, Anal stenosis, Holoprosencephaly, Arrhinencephaly, Esophageal atresia, U... OMIM:214800
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Lethargy, Amenorrhea, Apathy, Erectile dysfunction, Testicular atrophy, Hypogonadotr... ORPHA:465508
Oculocerebrocutaneous Syndrome
Gray matter heterotopia OMIM:164180
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyration, Macrog... ORPHA:2211
Edinburgh Malformation Syndrome
Abnormality of neuronal migration ORPHA:1895
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Lissencephaly Due To Lis1 Mutation
Pachygyria, Anterior predominant thick cortex pachygyria, Dysgyria, Agyria, Posterior predominant... ORPHA:95232
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Cleft palate OMIM:243440
Acromelic Frontonasal Dysostosis
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:603671
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Hyperactivity OMIM:182290
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... OMIM:123450
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Pseudo-Torch Syndrome 2
Polymicrogyria, Gray matter heterotopia OMIM:617397
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration ORPHA:93274
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia OMIM:618974
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:485405
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Desmosterolosis
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyration, Macrog... ORPHA:35107
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Solitary medi... OMIM:301043
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hyperactivity OMIM:614613
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Thanatophoric Dysplasia
Gray matter heterotopia ORPHA:2655
Periventricular Nodular Heterotopia
Periventricular heterotopia ORPHA:98892
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Holoprosencephaly 9
Panhypopituitarism, Short philtrum, Holoprosencephaly, Agenesis of incisor, Anterior pituitary ag... OMIM:610829
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
Angelman Syndrome
Inability to walk, Inappropriate laughter, Aggressive behavior, Delayed menarche, Self-injurious ... ORPHA:72
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration ORPHA:2518
Congenital Muscular Dystrophy With Cerebellar Involvement
Polymicrogyria, Type II lissencephaly, Gray matter heterotopia ORPHA:370959
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia ORPHA:255138
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Inappropriate laughter, Hyperactivity ORPHA:363686
Semilobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, High palate, Abnormal hypothalamus physiology, N... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, High palate, Abnormal hypothalamus physiology, N... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, High palate, Abnormal hypothalamus physiology, N... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Agenesis of corpus callosum, High palate, Abnormal hypothalamus physiology, N... ORPHA:93924
Neu-Laxova Syndrome
Pachygyria, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyration, Macrog... ORPHA:2671
19P13.3 Microduplication Syndrome
Self-injurious behavior, Irritability, Hyperactivity ORPHA:447980
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Depression OMIM:615954
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Joubert Syndrome
Polymicrogyria, Abnormality of neuronal migration ORPHA:475
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Van Maldergem Syndrome 1
Pachygyria, Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopi... OMIM:601390
Citrullinemia Type Ii
Lethargy, Aggressive behavior, Irritability, Hyperactivity, Delayed menarche ORPHA:247585
Cach Syndrome
Dysgyria ORPHA:135
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility OMIM:613807
Galloway-Mowat Syndrome
Pachygyria, Abnormality of neuronal migration ORPHA:2065
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Neonatal hypoglycemia, Hyperactivity ORPHA:457485
3C Syndrome
Abnormality of neuronal migration ORPHA:7
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Panhypopituitarism, Median cleft lip and palate, Aplasia/Hy... ORPHA:2162
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:85293
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Carnitine Palmitoyltransferase Ii Deficiency
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:157
Man1B1-Cdg
Periventricular heterotopia ORPHA:397941
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hy... ORPHA:139396
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity OMIM:609625
Chiari Malformation Type Ii
Gray matter heterotopia OMIM:207950
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia OMIM:219730
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polymicrogyria, Abnormality of neuronal migration OMIM:608836
Pediatric-Onset Graves Disease
Hyperactivity, Irritability, Mood swings ORPHA:525731
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Alkuraya-Kucinskas Syndrome
Lissencephaly, Gray matter heterotopia OMIM:617822
Radio-Tartaglia Syndrome
Gray matter heterotopia OMIM:619312
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia ORPHA:531151
Choreoacanthocytosis
Hair-pulling, Aggressive behavior, Depression, Apathy, Self-injurious behavior, Blepharospasm, Se... ORPHA:2388
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration ORPHA:2318
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity OMIM:213300
Vici Syndrome
Gray matter heterotopia ORPHA:1493
Orofaciodigital Syndrome Xvi
Gray matter heterotopia OMIM:617563
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Polymicrogyria, Pachygyria, Abnormality of neuronal migration ORPHA:228308
Van Maldergem Syndrome 2
Periventricular nodular heterotopia, Subcortical band heterotopia, Gray matter heterotopia OMIM:615546
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia OMIM:618797
Coffin-Lowry Syndrome
Abnormality of neuronal migration ORPHA:192
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short philtrum, Macroglossia, Hypoplasia of the corpus callosum, Agang... ORPHA:798
Miller-Dieker Lissencephaly Syndrome
Pachygyria, Agyria, Lissencephaly, Gray matter heterotopia OMIM:247200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Periventricular heterotopia OMIM:618476
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Alg11-Cdg
Gray matter heterotopia ORPHA:280071
Thanatophoric Dysplasia Type 1
Gray matter heterotopia ORPHA:1860
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
Aromatase Deficiency
Insulin resistance, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type ... ORPHA:91
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration ORPHA:261236
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
6Q Terminal Deletion Syndrome
Abnormality of neuronal migration, Polymicrogyria, Gray matter heterotopia, Periventricular heter... ORPHA:75857
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Inappropriate crying, Hyperactivity ORPHA:261323
Multiple Acyl-Coa Dehydrogenase Deficiency
Gray matter heterotopia ORPHA:26791
Partial Androgen Insensitivity Syndrome
Azoospermia, Primary amenorrhea, Male sexual dysfunction, Insulin insensitivity, Male infertility ORPHA:90797
Periventricular Nodular Heterotopia 9
Periventricular nodular heterotopia, Polymicrogyria, Gray matter heterotopia OMIM:618918
Peroxisome Biogenesis Disorder 1A (Zellweger)
Polymicrogyria, Gray matter heterotopia OMIM:214100
Familial Infantile Myoclonic Epilepsy
Periventricular nodular heterotopia ORPHA:352582
Histidinemia
Hyperactivity ORPHA:2157
Bohring-Opitz Syndrome
Gray matter heterotopia OMIM:605039
Wiedemann-Steiner Syndrome
Anxiety, Low frustration tolerance, Aggressive behavior, Hyperactivity ORPHA:319182
Androgen Insensitivity Syndrome
Male infertility ORPHA:754
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Periventricular heterotopia OMIM:618929
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Periventricular heterotopia OMIM:618870
Tuberous Sclerosis Complex
Aggressive behavior, Depression, Self-injurious behavior, Impulsivity, Anxiety, Hyperactivity, At... ORPHA:805
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria, Bilateral per... ORPHA:98889
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Pachygyria, Periventricular heterotopia, Polymicrogyria, Simplified gyral pattern, Lissencephaly ORPHA:468631
Complete Androgen Insensitivity Syndrome
Male infertility, Primary amenorrhea ORPHA:99429
Cerebrofacioarticular Syndrome
Gray matter heterotopia ORPHA:314679
16Q24.3 Microdeletion Syndrome
Periventricular heterotopia ORPHA:261250
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability, Hyperactivity ORPHA:447997
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration ORPHA:2754
Vici Syndrome
Gray matter heterotopia OMIM:242840
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Irregular menstruation, Primary amenorrhea, Decreased fertility, Male infertility ORPHA:90793
Orofaciodigital Syndrome I
Abnormal cortical gyration, Gray matter heterotopia OMIM:311200
Koolen-De Vries Syndrome
Gray matter heterotopia OMIM:610443
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration ORPHA:464311
Aicardi Syndrome
Polymicrogyria, Pachygyria, Gray matter heterotopia OMIM:304050
Bloom Syndrome
Azoospermia, Insulin resistance, Oligospermia, Diabetes mellitus, Male infertility, Premature ova... ORPHA:125
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Opitz-Kaveggia Syndrome
Gray matter heterotopia OMIM:305450
Neuromuscular Oculoauditory Syndrome
Periventricular heterotopia OMIM:618733
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia ORPHA:453499
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration ORPHA:1454
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353281
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Early Infantile Epileptic Encephalopathy
Hyperactivity, Self-injurious behavior, Episodic ataxia, Dystonia ORPHA:1934
Nijmegen Breakage Syndrome
Abnormality of neuronal migration ORPHA:647
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Difficulty walking, Nail-biting, Impulsivity, ... ORPHA:642
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of neuronal migration ORPHA:3186
Mend Syndrome
Aggressive behavior, Hyperactivity ORPHA:401973
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Male infertility OMIM:227650
Arima Syndrome
Gray matter heterotopia OMIM:243910
Pagod Syndrome
Abnormality of neuronal migration ORPHA:991
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gray matter heterotopia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gray matter heterotopia ORPHA:352665
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Gray matter heterotopia OMIM:618820
Acrodysostosis With Multiple Hormone Resistance
Hypogonadism, Diabetes mellitus, Hyperactivity ORPHA:280651
Superficial Siderosis
Dysgyria ORPHA:247245
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Azoospermia, Hypergonadotropic hypogonadism, Streak ovary, Primar... ORPHA:251510
Cystinosis, Nephropathic
Male infertility, Male hypogonadism, Diabetes mellitus, Glycosuria OMIM:219800
Fontaine Progeroid Syndrome
Gray matter heterotopia, Periventricular heterotopia OMIM:612289
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Pachygyria, Gray matter heterotopia OMIM:210710
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Azoospermia, Streak ovary, Chordee ORPHA:1772
Orofaciodigital Syndrome Xiv
Polymicrogyria, Simplified gyral pattern, Periventricular heterotopia OMIM:615948
Smith-Lemli-Opitz Syndrome
Periventricular heterotopia OMIM:270400
Proteus Syndrome
Gray matter heterotopia ORPHA:744
Noonan Syndrome 1
Hypogonadism, Male infertility OMIM:163950
Cystic Fibrosis
Male infertility OMIM:219700
Orofaciodigital Syndrome Type 14
Periventricular heterotopia ORPHA:434179
Genitopatellar Syndrome
Periventricular heterotopia OMIM:606170
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Polymicrogyria, Periventricular heterotopia ORPHA:261537
Mowat-Wilson Syndrome
Polymicrogyria, Periventricular heterotopia ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Polymicrogyria, Periventricular heterotopia ORPHA:261552

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 Efna5

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 Efna5.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Target-independent ephrina/EphA-mediated axon-axon repulsion as a novel element in retinocollicular mapping. Neuron (October 2014) Efna5tm1c(EUCOMM)Wtsi Efna5tm1a(EUCOMM)Wtsi PMC4250266

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Efna5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Efna5tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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