banner
Genes Phenotypes Help, News, Blog

Gene: AU040320 MGI:2140475

Log in to follow

Gene Summary

Name:
expressed sequence AU040320
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity AU040320em1(IMPC)J HOM Late adult 8.92×10-09
decreased lean body mass AU040320em1(IMPC)J HOM Late adult 3.95×10-05
abnormal retina morphology AU040320em1(IMPC)J HOM Late adult 6.39×10-12
increased exploration in new environment AU040320em1(IMPC)J HOM   Late adult 8.04×10-07
abnormal retina morphology AU040320em1(IMPC)J HOM Early adult 2.83×10-07
hyperactivity AU040320em1(IMPC)J HOM Early adult 3.58×10-07
increased total body fat amount AU040320em1(IMPC)J HOM Late adult 2.95×10-05
decreased bone mineral content AU040320em1(IMPC)J HOM Early adult 4.25×10-06
impaired righting response AU040320em1(IMPC)J HOM Late adult 9.18×10-07
decreased grip strength AU040320em1(IMPC)J HOM Late adult 9.63×10-10
male infertility AU040320em1(IMPC)J HOM Early adult 0.00
limb grasping AU040320em1(IMPC)J HOM Late adult 2.89×10-07
decreased bone mineral density AU040320em1(IMPC)J HOM Early adult 3.21×10-05
abnormal coat/hair pigmentation AU040320em1(IMPC)J HOM Late adult 3.35×10-05
absent vibrissae AU040320em1(IMPC)J HOM   Late adult 2.33×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

14 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

18 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by AU040320 mutations

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

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

The table below shows human diseases associated to AU040320 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Limited Cutaneous Systemic Sclerosis
Contractures involving the joints of the feet, Hypopigmented skin patches, Joint contracture of t... ORPHA:220402

The table below shows human diseases predicted to be associated to AU040320 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility OMIM:608653
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Abnormal spermatogenesis, Non-obstruct... ORPHA:399808
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Azoospermia ORPHA:98797
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Decr... ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia OMIM:615703
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormality of male internal genitalia, Male infertility, Bilateral cryptorchidism OMIM:261550
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, D... ORPHA:320391
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Young Syndrome
Azoospermia OMIM:279000
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Spermatogenic Failure 28
Decreased testicular size, Azoospermia OMIM:618086
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Primary amenorrhea, Cryptorchidism, Decre... OMIM:614837
Immunodeficiency 8
Hyperactivity OMIM:615401
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Abnormality of the optic nerve, Generalized hyperpigmentation, Aplasia/Hypoplasia ... ORPHA:33445
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Adrenal Hypoplasia, Congenital
Oligospermia, Azoospermia, Hypogonadotropic hypogonadism, Cryptorchidism, Precocious puberty OMIM:300200
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Azoospermia, Varicocele, Micropenis, Male infertility,... ORPHA:8
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Aggressive behavior, Gait ataxia, Fair hair OMIM:618808
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia ORPHA:2578
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia OMIM:602390
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Urocanase Deficiency
Blue irides, Aggressive behavior, Tremor, Ataxia, Fair hair OMIM:276880
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Premature Ovarian Failure 10
Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ovarian insufficiency, Decrea... OMIM:612885
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Tremor, Ataxia, Hyperactivity, Frontal upsweep of hair OMIM:300983
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of the fundus, Albinism, Macular hypoplasia, Hypopigmentation of hair OMIM:606574
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Morm Syndrome
Retinal dystrophy, Aggressive behavior, Truncal obesity, Hyperactivity, Retinal atrophy ORPHA:75858
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Small nail, Aggressive behavior, Tremor, Hyperactivity, Broad-based gait, Elbow fl... OMIM:619470
Familial Hyperprolactinemia
Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea, Osteoporosis, Osteopenia, Female hypogonadism ORPHA:397685
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism OMIM:606952
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism OMIM:240950
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the fundus, Iris hypopigmentation, Hypopigmentation... OMIM:126070
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Functioning Gonadotropic Adenoma
Oligospermia, Infertility, Macroorchidism, postpubertal, Amenorrhea, Abnormality of the menstrual... ORPHA:91348
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:614935
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Oligomenorrhea, Hypogonadism, Amenorrhea ORPHA:91351
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Griscelli Syndrome, Type 2
Silver-gray hair, Progressive neurologic deterioration, Hypopigmentation of the skin, Accumulatio... OMIM:607624
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Oligomenorrhea,... OMIM:228300
Coffin-Siris Syndrome 8
Self-injurious behavior, Failure to thrive, Aggressive behavior, Long eyelashes, Hyperactivity, T... OMIM:618362
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormality of the ... ORPHA:330015
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Iris transillumination defect, Hypopigmentation of the skin, Chorioretin... OMIM:619165
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Hypopigmentation of the skin, Hyperactivity, Ataxia, Iris hypopigmentation, Broad... ORPHA:411515
Partial Androgen Insensitivity Syndrome
Hypospadias, Male sexual dysfunction, Aplasia of the uterus, Bifid scrotum, Fused labia majora, A... ORPHA:90797
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Ataxia, Hyperactivity, Mental deterioration OMIM:615924
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... ORPHA:261519
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Cafe-au-lait spot ORPHA:436151
Juvenile Huntington Disease
Dystonia, Dementia, Chorea, Weight loss, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Irr... ORPHA:248111
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Optic atrophy from cranial nerve compressio... OMIM:239100
Classic Phenylketonuria
Self-injurious behavior, Hypopigmentation of the skin, Tremor, Mental deterioration, Motor deteri... ORPHA:79254
Phenylketonuria
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attentio... OMIM:261600
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pseudohermaphroditism, Pre... ORPHA:786
Ring Chromosome 21 Syndrome
Infertility, Amenorrhea, Azoospermia ORPHA:1445
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism, Small for gestational age ORPHA:85288
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Albinism, Hypopigmentation ... OMIM:203200
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Abnormal retinal morphology ORPHA:2786
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Cognitive impairment, Reduced subcutaneous adipose tissue,... ORPHA:363400
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Ataxia, Irregular ... ORPHA:2885
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... OMIM:400045
Elejalde Disease
Silver-gray hair, Hypopigmentation of the skin, Ataxia, Accumulation of melanosomes in melanocyte... OMIM:256710
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Alazami-Yuan Syndrome
Highly arched eyebrow, Hirsutism, Low anterior hairline, Long eyelashes, Hyperactivity, Thick eye... OMIM:617126
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Hypergonadotropic hypogonadism, Azoospermia ORPHA:280679
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Chromosome Xq25 Duplication Syndrome
Highly arched eyebrow, Sparse eyebrow, Hyperactivity, Thick eyebrow, Anxiety OMIM:300979
Griscelli Syndrome Type 1
Partial albinism, White hair, Ataxia, Retinopathy, Iris hypopigmentation, Premature graying of hair ORPHA:79476
Classic Galactosemia
Decreased fertility in females, Gait disturbance, Dystonia, Secondary amenorrhea, Gait imbalance,... ORPHA:79239
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Ataxia, Hyperactivity OMIM:612716
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Vogt-Koyanagi-Harada Disease
Poliosis, Hypopigmented skin patches, Cognitive impairment, Vitiligo, Abnormal eyebrow morphology... ORPHA:3437
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... OMIM:609425
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hypogonadism, Abnormal testis morphology, Primary testicular failure, Male infertility ORPHA:85450
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Urogenital sinus anomaly, Micropenis, Abnormal sex determination, Male infertility, ... ORPHA:251510
Ataxia-Telangiectasia
Gait disturbance, Failure to thrive, Cognitive impairment, Tremor, Ataxia, Multiple cafe-au-lait ... ORPHA:100
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior OMIM:239500
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Hypergonadotropic hypogonadism, Azoospermia OMIM:300845
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety, Sparse eyebrow, Highly arched eyebrow ORPHA:521258
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decre... OMIM:308700
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Microp... ORPHA:432
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Impotence OMIM:235200
Glycine Encephalopathy
Hyperactivity, Aggressive behavior, Irritability, Lethargy OMIM:605899
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Synophrys OMIM:615541
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Ataxia, Heterochromia i... OMIM:277580
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior OMIM:604317
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia OMIM:614813
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Obesity, Childhood-ons... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Failure to thrive, Hypopigmentation of the skin, Obesity, Childhood-ons... ORPHA:71526
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Decreased body weight, Highly arched eyebrow OMIM:618342
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Mental Retardation, Autosomal Recessive 61
Highly arched eyebrow, Aggressive behavior, Long eyelashes, Hyperactivity, Thick eyebrow, Synophrys OMIM:617773
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Generalized hypopigmentation, Iris transillumination defect... ORPHA:352731
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Chorea, Progressive neurologic deterioration, Ataxia, Inability to walk, Gener... ORPHA:70472
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, White forelock, Ataxia, Heterochromia ir... ORPHA:2884
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, White forelock, Heterochromia iridis, W... OMIM:613265
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Hirsutism OMIM:300434
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Cln5 Disease
Dysmetria, Aggressive behavior, Tremor, Ataxia, Hyperactivity, Dysdiadochokinesis, Inability to w... ORPHA:228360
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, White forelock, Heterochromia iridis, White eyebrow,... OMIM:193510
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior OMIM:309548
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Lennox-Gastaut Syndrome
Mental deterioration, Hyperactivity, Aggressive behavior, Falls ORPHA:2382
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior ORPHA:100973
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Failure to thrive, Hyperactivity, Thick eyebrow, Broad-based gait, Unsteady gait OMIM:617865
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Oculocutaneous Albinism
Absent skin pigmentation, Hypoplasia of the fovea, Ocular albinism, Generalized hypopigmentation,... ORPHA:55
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia ORPHA:300298
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Self-injurious behavior, Inability to walk, Hyperactivity OMIM:618718
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety OMIM:616977
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Chorea, Aggressive behavior, Ataxia, Hyperactivity ORPHA:382
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Autism Spectrum Disorder Due To Auts2 Deficiency
Highly arched eyebrow, Umbilical hernia, Small for gestational age, Arthrogryposis multiplex cong... ORPHA:352490
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Gait imbalance, Hypopigmentation of the skin, Tremor, Ataxia, Hyperactivity, Iris... ORPHA:98794
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Azoospermia, Penoscrotal hypospadias, Ambiguous genitalia, female, Ambiguous genital... ORPHA:90791
Mucopolysaccharidosis, Type Iiic
Hirsutism, Coarse hair, Hernia, Rod-cone dystrophy, Hyperactivity, Motor deterioration, Synophrys OMIM:252930
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Bloom Syndrome
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia ORPHA:125
Optic Atrophy 11
Dysmetria, Optic atrophy, Hyperactivity, Ataxia OMIM:617302
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177910
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity, Obesity, Fair hair, Red hair OMIM:614613
Ck Syndrome
Joint hypermobility, Hyperactivity, Abnormal cortical bone morphology OMIM:300831
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip contracture, Knee flexion contracture, Osteopenia, Hyperactivity, Flexion contracture, Elbow ... OMIM:616809
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Ataxia, Hyperactivity, Anxiety OMIM:271980
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, White forelock... ORPHA:894
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Gait imbalance, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Broa... ORPHA:411511
Aromatase Deficiency
Macroorchidism, postpubertal, Ambiguous genitalia, female, Female infertility, Male infertility, ... ORPHA:91
Ck Syndrome
Slender build, Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Impaired pain sensation, Chorea, Aggressive behavior, Hyperactivity, Inability to walk,... ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Unsteady gait OMIM:615516
Myoclonic-Astatic Epilepsy
Frontal balding, Tremor, Ataxia, Hyperactivity, Unsteady gait, Attention deficit hyperactivity di... ORPHA:1942
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation, Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Chorea, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivit... ORPHA:485350
Squalene Synthase Deficiency
Failure to thrive in infancy, Optic nerve hypoplasia, Knee flexion contracture, Irritability, Abn... OMIM:618156
Gand Syndrome
Hyperactivity, Sparse hair OMIM:615074
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Intellectual Developmental Disorder, X-Linked 107
Obesity, Aggressive behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder OMIM:301013
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Dystonia, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Dysdia... OMIM:610217
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Retinal degeneration, Motor deterioration, Aggressive behavior, Ataxi... ORPHA:168491
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Irritability, Onycholysis OMIM:275000
Smith-Magenis Syndrome
Impaired pain sensation, Self-mutilation, Hyperactivity, Retinal detachment, Head-banging, Increa... OMIM:182290
Rubinstein-Taybi Syndrome 2
Hyperactivity, Long eyelashes, Hirsutism OMIM:613684
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Emotional lability, Irritab... ORPHA:1929
Infantile Neuroaxonal Dystrophy
Optic atrophy, Gait disturbance, Dystonia, Ataxia, Hyperactivity, Emotional lability, Flexion con... ORPHA:35069
Mucopolysaccharidosis, Type Iiib
Hirsutism, Aggressive behavior, Coarse hair, Progressive neurologic deterioration, Hyperactivity,... OMIM:252920
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Truncal obesity, Synophrys OMIM:613192
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Self-injurious behavior, Aggressive behavior, Hyperactivity, Obesity, Pain... OMIM:600430
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Self-injurious behavior, Ataxia, Hyperactivity, Generalized hirsutism, Syn... ORPHA:228402
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Dementia, Gait disturbance, Retinal degeneration, Dystonia, Choreoathetosis, Hyper... OMIM:234200
Acquired Hypertrichosis Lanuginosa
Fine hair, Weight loss, Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Aggressive behavior, Failure to thrive ORPHA:369939
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Fused labia majora, Increased size of the clitoris, Abnormal external ... ORPHA:95699
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior, Synophrys OMIM:615824
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Hypoplasia of the fovea, Ocular albinism, Freckling, Albinism, Hy... ORPHA:79431
Coffin-Siris Syndrome 7
Hyperactivity, Hypoplastic fifth toenail, Thick eyebrow, Sparse scalp hair OMIM:618027
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Hyperactivity ORPHA:88616
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Abdominal obesity, Gait ataxia OMIM:300354
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Red hair OMIM:609734
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619467
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cri-Du-Chat Syndrome
Optic atrophy, Small for gestational age, Aggressive behavior, Conspicuously happy disposition, S... OMIM:123450
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Nail dystrophy, Self-mutilation, Hyperactivity, Emotional lability, Nail dyspla... OMIM:256800
Carney Complex
Oligospermia, Macroorchidism, Testicular adrenal rest tumor, Ovarian serous cystadenoma, Sertoli ... ORPHA:1359
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Hyperactivity, Aggressive behavior OMIM:615286
Angelman Syndrome
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Obesity, Aggressive be... ORPHA:72
13Q12.3 Microdeletion Syndrome
Impaired pain sensation, Failure to thrive, Congenital diaphragmatic hernia, Self-mutilation, Hyp... ORPHA:412035
Angelman Syndrome
Blue irides, Limb tremor, Progressive gait ataxia, Hypopigmentation of the skin, Hyperactivity, B... OMIM:105830
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Cachexia, Chorea, Self-mutilation, Ataxia, Hyperactivity ORPHA:52503
Chediak-Higashi Syndrome
Gait disturbance, Ocular albinism, Silver-gray hair, Hypopigmentation of the skin, Tremor, Ataxia... OMIM:214500
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Aggressive behavior, Abnormal hair pattern, Tremor, Hyperactivity, Camptodactyly of fin... ORPHA:85293
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Happy demeanor, Small for gestational age, Hypera... OMIM:614104
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Reduced sperm motility, Bicornuate uterus, Epididymal cyst, Hy... OMIM:137920
Glass Syndrome
Happy demeanor, Aggressive behavior, Hyperactivity, Nail dysplasia, Broad-based gait, Camptodacty... OMIM:612313
Diphallia
Hypospadias, Bifid scrotum, Ectopic scrotum, Rectoperineal fistula, Bifid penis, Abnormal spermat... ORPHA:227
Myopathy With Extrapyramidal Signs
Optic atrophy, Dystonia, Choreoathetosis, Chorea, Tremor, Ataxia, Hyperactivity, Difficulty walking OMIM:615673
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Cognitive impairment, Alopecia, Ataxia, Hyperactivity OMIM:601853
Inverted Duplicated Chromosome 15 Syndrome
Self-biting, Aggressive behavior, Hernia, Hyperactivity, Synophrys ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Decreased body weight, Broad-based gait OMIM:300958
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Hyperactivity, Dense calvaria OMIM:252900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Hyperactivity, Attention deficit hyperactivity disorder, Osteoporosis ORPHA:73272
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albi... OMIM:203100
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Ataxia, Hyperactivity, Low frustration tolera... ORPHA:163681
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Low anterior hairline, Aggressive behavior, Horizontal eyebrow, Ataxia, Hyperactivity, Camptodact... ORPHA:369891
X-Linked Adrenoleukodystrophy
Gait disturbance, Dementia, Aggressive behavior, Cognitive impairment, Hyperactivity, Attention d... ORPHA:43
Chromosome 10Q26 Deletion Syndrome
Small nail, Small for gestational age, Aggressive behavior, Hyperactivity, Broad-based gait, Low ... OMIM:609625
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Patchy alopecia, Failure to thrive, Aggressive behavior, Shuffling gait, Hyperactivity, Decreased... OMIM:300534
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy, Ataxia, Fused cervical vertebrae ORPHA:530983
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the female genitalia, Abnormality of the male genitalia ORPHA:228123
Adenylosuccinase Deficiency
Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Hyperactivity, Inability to w... OMIM:103050
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Hyperactivity OMIM:300143
Fragile X Syndrome
Hyperactivity, Joint laxity OMIM:300624
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior ORPHA:101039
Bone Marrow Failure Syndrome 3
Small nail, Failure to thrive, Retinal dystrophy, Nail dystrophy, Abnormality of skin pigmentatio... OMIM:617052
Tetrasomy 9P
Oligospermia, Infertility, Pachygyria, Micropenis, Polymicrogyria, Cryptorchidism, Lissencephaly ORPHA:3310
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Synophrys ORPHA:391307
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Hypopigmentation of the skin, Iris hypopigmentation, Broad-based gait, Hypopigmen... ORPHA:98795
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Failure to thrive, Nail dystrophy, Generalized hypopigmentation of... ORPHA:3322
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... ORPHA:3464
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Inguina... OMIM:614294
16P12.1P12.3 Triplication Syndrome
Skin-picking, Failure to thrive, Hyperactivity, Thick eyebrow, Anxiety, Attention deficit hyperac... ORPHA:485405
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Gait disturbance, Freckling, Hyperpigmentation of the skin, Iris hypo... ORPHA:3214
Brittle Cornea Syndrome
Gait disturbance, Corneal scarring, Hernia, Retinal detachment, Abnormality of hair pigmentation,... ORPHA:90354
Mucopolysaccharidosis, Type Iiid
Hirsutism, Coarse hair, Hyperactivity, Thick eyebrow, Flexion contracture, Synophrys OMIM:252940
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration OMIM:610042
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair, Optic nerve hypoplasia, Self-mutilation, Hyperactivity, Low frustration tolerance ORPHA:363686
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Cognitive impairment, Breast aplasia, Generalized hypopigmentation of hair, Tr... ORPHA:238468
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Impaired temperature sensation, Failure to thrive, Hypopigmentation of the skin, Ch... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity, Obesity ORPHA:397973
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Aggressive behavior, Ataxia, Hyperactivity, Anxiety OMIM:618430
Magel2-Related Prader-Willi-Like Syndrome
Skin-picking, Impaired temperature sensation, Failure to thrive, Cognitive impairment, Hypopigmen... ORPHA:398069
Joubert Syndrome 1
Highly arched eyebrow, Optic disc pallor, Chorioretinal coloboma, Retinal dysplasia, Retinal dyst... OMIM:213300
Waardenburg Syndrome
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, White ... ORPHA:3440
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypopigmented skin patches, Gait disturbance, Large for gestational age, Hyperactivity, Curly hai... ORPHA:457485
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Chédiak-Higashi Syndrome
Gait disturbance, Dementia, Abnormality of retinal pigmentation, Cognitive impairment, Hypopigmen... ORPHA:167
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hamstring contractures, Ataxia, Hyperactivity, Inability to walk, Me... ORPHA:139396
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Hyperactivity, Limited elbow flexion/extension, Co... ORPHA:166108
Citrullinemia Type Ii
Decreased body mass index, Aggressive behavior, Tremor, Hyperactivity, Irritability, Memory impai... ORPHA:247585
Oculocerebral Hypopigmentation Syndrome, Cross Type
Athetosis, Choroideremia, Ocular albinism, Ataxia, Iris hypopigmentation, Hypopigmentation of hai... ORPHA:2719
Mucopolysaccharidosis Type 3
Optic atrophy, Dementia, Gait disturbance, Retinal degeneration, Hirsutism, Loss of ambulation, A... ORPHA:581
Prader-Willi Syndrome
Failure to thrive in infancy, Impaired pain sensation, Self-injurious behavior, Hypopigmentation ... OMIM:176270
Carney Complex, Type 1
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
Muenke Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule ORPHA:53271
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Arthrogryposis multiplex congenita, Hyperactivity, Generalized hirsutism... ORPHA:254346
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta, Red hair OMIM:229200
Legius Syndrome
Dystonia, Cognitive impairment, Hyperactivity, Axillary freckling, Inguinal freckling, Multiple c... ORPHA:137605
Intellectual Disability-Strabismus Syndrome
Gait disturbance, Highly arched eyebrow, Congenital finger flexion contractures, Failure to thriv... ORPHA:363528
Pediatric-Onset Graves Disease
Mood swings, Failure to thrive, Tremor, Hyperactivity, Irritability ORPHA:525731
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity, Impaired vibratory sensation, Hiatus hernia OMIM:609727
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Loose anagen hair, Failure to thrive, Hyperpigmentation of the skin, Long eyelashes, Large for ge... OMIM:607721
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
White-Sutton Syndrome
Optic atrophy, Self-injurious behavior, Congenital diaphragmatic hernia, Aggressive behavior, Vit... ORPHA:468678
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Partial albinism, Ocular albinism, Weight loss, Abnormal dental e... ORPHA:79430
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Gait ataxia, Low frustration tolerance OMIM:300486
Wiedemann-Steiner Syndrome
Failure to thrive, Aggressive behavior, Long eyelashes, Hyperactivity, Congenital, generalized hy... ORPHA:319182
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor, Weight loss, Small for gestational age ORPHA:424
7Q11.23 Microduplication Syndrome
Dysmetria, Self-injurious behavior, Aggressive behavior, Abnormality of the optic disc, Congenita... ORPHA:96121
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Arthrogryposis multiplex congenita, Abnormal eyebrow morphology, Hete... ORPHA:163746
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Flexion contra... OMIM:309520
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Vici Syndrome
Ocular albinism, Failure to thrive, Hypopigmentation of the fundus, Albinism, Hypopigmentation of... OMIM:242840
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Skin-picking, Impaired temperature sensation, Small for gestational age, Self-injurious behavior,... ORPHA:98754
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Small nail, Hypoplastic nipples, Self-injurious behavior, Nail dyst... ORPHA:261323
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Skin-picking, Impaired temperature sensation, Small for gestational age, Self-injurious behavior,... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Skin-picking, Impaired temperature sensation, Small for gestational age, Self-injurious behavior,... ORPHA:177904
Prader-Willi Syndrome Due To Translocation
Skin-picking, Happy demeanor, Stellate iris, Obesity, Hyperpigmentation of the skin, Hypopigmenta... ORPHA:177907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Skin-picking, Impaired temperature sensation, Small for gestational age, Self-injurious behavior,... ORPHA:177901
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Weight loss ORPHA:99819
Mucopolysaccharidosis Type 2
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Aggressive behavior, Co... ORPHA:580
Hereditary Sensory And Autonomic Neuropathy Type 4
Trophic limb changes, Impaired temperature sensation, Aplasia of the sweat glands, Corneal scarri... ORPHA:642
Hyperlysinemia
Opisthotonus, Thin eyebrow, Dysmetria, Failure to thrive, Tremor, Hyperactivity, Tip-toe gait ORPHA:2203
Hallermann-Streiff Syndrome
Fine hair, Sparse eyelashes, Chorioretinal coloboma, Small for gestational age, Choreoathetosis, ... OMIM:234100
Brain-Lung-Thyroid Syndrome
Dystonia, Choreoathetosis, Failure to thrive, Chorea, Falls, Intention tremor, Ataxia, Hyperactivity ORPHA:209905
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Hypoplastic nipples, Hypermelanotic macule, Cafe-au-lait spot OMIM:618505
Coffin-Siris Syndrome
Small nail, Hirsutism, Hypertrichosis, Low anterior hairline, Prominent eyelashes, Hypoplastic fi... ORPHA:1465
Prader-Willi-Like Syndrome
Skin-picking, Impaired temperature sensation, Small for gestational age, Self-injurious behavior,... ORPHA:398073
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Low anterior hairline, Self-injurious behavior, Retinal dystrophy, Failure to thri... OMIM:619512
Koolen-De Vries Syndrome
Small for gestational age, Failure to thrive, Conspicuously happy disposition, Abnormality of hai... OMIM:610443
Cystic Fibrosis
Male infertility OMIM:219700
Early Infantile Epileptic Encephalopathy
Dystonia, Absent thumbnail, Choreoathetosis, Self-injurious behavior, Failure to thrive, Tremor, ... ORPHA:1934
Menkes Disease
Chondrocalcinosis, Chorea, Hypopigmentation of hair, Hernia, Inguinal hernia, Atypical scarring o... ORPHA:565
Syndromic Diarrhea
Generalized hypopigmentation, Small for gestational age, Brittle hair, Trichorrhexis nodosa, Unco... ORPHA:84064
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Failure to thrive, Aggressive behavior, Ataxia, Hyperactivity, Anxiety OMIM:300912
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Isometric tremor, Irritability, Anxiety, Decreased body weight, Intention tremor, Me... OMIM:619475
Prader-Willi Syndrome
Impaired temperature sensation, Failure to thrive, Hypopigmentation of the skin, Abdominal obesit... ORPHA:739
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture ORPHA:96169
Brooks-Wisniewski-Brown syndrome
Optic atrophy, Small for gestational age, Hyperactivity, Flexion contracture, Low posterior hairline OMIM:300612
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormality of the optic disc OMIM:617516
Histidinemia
Hyperactivity ORPHA:2157
Tuberous Sclerosis Complex
Shagreen patch, Self-injurious behavior, Hypomelanotic macule, Aggressive behavior, Hyperactivity... ORPHA:805
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Male infertility, Hypospadias OMIM:163950
Dyrk1A-Related Intellectual Disability Syndrome
Gait disturbance, Optic disc pallor, Small for gestational age, Failure to thrive, Hyperactivity,... ORPHA:464306
Dubowitz Syndrome
Sparse lateral eyebrow, Rod-cone dystrophy, Hyperactivity, Sparse scalp hair, Inguinal hernia OMIM:223370
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Distal Monosomy 12Q
Fine hair, Failure to thrive in infancy, Small nail, Impaired pain sensation, Self-mutilation, Hy... ORPHA:96149
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hyperactivity, Obesity, Fair hair, Red hair ORPHA:280651
Witteveen-Kolk Syndrome
Fine hair, Small for gestational age, Congenital diaphragmatic hernia, Aggressive behavior, Consp... OMIM:613406
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Ataxia, Hyperactivity, Unsteady gait OMIM:614756
Alström Syndrome
Oligospermia, Hyoplasia of the Leydig cells, Precocious puberty in females, Polycystic ovaries, M... ORPHA:64
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Irritability, Multiple joint contractures, Synophrys ORPHA:447997
Smith-Lemli-Opitz Syndrome
Optic atrophy, Self-injurious behavior, Congenital diaphragmatic hernia, Abnormal dental enamel m... ORPHA:818
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Optic nerve hypoplasia, Inguinal hernia, Abnormal hair whorl ORPHA:457284
Monosomy 9Q22.3
Hyperactivity, Retinopathy, Umbilical hernia, Large for gestational age ORPHA:77301
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Degcags Syndrome
Hypertrichosis, Small for gestational age, Low anterior hairline, Failure to thrive, Abnormality ... OMIM:619488
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear/anxiety-related behavior, Keloids, Agoraphobia, Self-injurious behavior, Aggressive... ORPHA:353281
Monosomy 22Q13.3
Hair-pulling, Impaired pain sensation, Long eyelashes, Hyperactivity, Thick eyebrow, Hypoplastic ... ORPHA:48652
Rubinstein-Taybi Syndrome 1
Abnormal fear/anxiety-related behavior, Keloids, Chorioretinal dystrophy, Highly arched eyebrow, ... OMIM:180849
Mend Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior, Spotty hypopigmentation ORPHA:401973
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear/anxiety-related behavior, Keloids, Highly arched eyebrow, Trichiasis, Agoraphobia, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear/anxiety-related behavior, Keloids, Highly arched eyebrow, Trichiasis, Agoraphobia, ... ORPHA:353277
Limited Cutaneous Systemic Sclerosis
Contractures involving the joints of the feet, Hypopigmented skin patches, Joint contracture of t... ORPHA:220402

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 AU040320

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 AU040320.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice. Scientific reports (July 2018) AU040320tm1b(EUCOMM)Wtsi PMC6039479
Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing. Cerebral cortex (New York, N.Y. : 1991) (December 2017) AU040320tm1c(EUCOMM)Wtsi AU040320tm1a(EUCOMM)Wtsi AU040320tm1d(EUCOMM)Wtsi