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Gene: Herc2 MGI:103234

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

HECT and RLD domain containing E3 ubiquitin protein ligase 2

Synonyms:

D7H15F37S1, D7H15F32S1, rjs, jdf2, D15F32S1h

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Herc2 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.

Human diseases associated with Herc2 (1 diseases)
Human diseases predicted to be associated with Herc2 (372 diseases)

The table below shows human diseases associated to Herc2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Recessive 38			OMIM:615516

The table below shows human diseases predicted to be associated to Herc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 84	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620409
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:301059
Spermatogenic Failure 65	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm...	OMIM:619712
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 40	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 56	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:619515
Spermatogenic Failure 76	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:620084
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 1	Cryptozoospermia, Oligozoospermia, Male infertility	OMIM:258150
Spermatogenic Failure 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 39	Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo...	OMIM:618643
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,...	OMIM:619177
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:619828
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Spermatogenic Failure 20	Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility	ORPHA:98797
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada...	ORPHA:98798
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility	OMIM:108420
Spastic Paraparesis And Deafness	Hypogonadism, Spastic paraparesis, Tremor	OMIM:312910
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin...	OMIM:620103
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Ciliary Dyskinesia, Primary, 51	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620438
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility, Progressive cerebellar ataxia	ORPHA:276183
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Deleted in azoospermia	Azoospermia	OMIM:400003
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia, Ataxia	OMIM:613909
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib...	ORPHA:52901
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia	OMIM:615768
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Oligozoospermia	OMIM:615703
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Episodic Ataxia With Slurred Speech	Gait ataxia, Tremor, Slurred speech	ORPHA:401953
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Head tremor, Torticollis, Dystonia, Intention tremor, Hypergonadotropic hypogonadism	OMIM:613724
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility	OMIM:617442
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia	ORPHA:397685
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased testicular size, Non-obstructive azoosp...	OMIM:618086
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Spinocerebellar Ataxia 43	Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia	OMIM:617018
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Secondary ...	OMIM:612310
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Spermatogenic Failure 14	Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M...	OMIM:615842
Sandhoff Disease, Adult Form	Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia	ORPHA:309169
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Myoclonus, Familial, 1	Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls	OMIM:614937
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Tremor, Fasciculations	OMIM:313200
Functioning Gonadotropic Adenoma	Pituitary gonadotropic cell adenoma, Pituitary hypothyroidism, Abnormality of the menstrual cycle...	ORPHA:91348
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig...	ORPHA:101110
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Young Syndrome	Azoospermia	OMIM:279000
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig...	OMIM:607317
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Azoospermia, Elevated circulating follicle stimul...	OMIM:301077
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,...	OMIM:617145
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Spermatogenic Failure 13	Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, M...	OMIM:615841
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor	ORPHA:217012
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia	OMIM:615945
Parkinsonism With Spasticity, X-Linked	Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia	OMIM:300911
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia, Torticollis	OMIM:314300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Hemiballismus, Tremor	ORPHA:494526
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal...	ORPHA:79262
Spinocerebellar Ataxia 38	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia	OMIM:615957
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ...	OMIM:312300
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ...	OMIM:611302
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy...	ORPHA:251282
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Abnormal central motor function, Pan...	ORPHA:91351
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi...	ORPHA:90797
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Increased circulating gonadotropin leve...	ORPHA:8
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor, Hypergonadotropic hypogonadism	OMIM:614307
Classic Galactosemia	Ataxia, Incoordination, Speech apraxia, Postural tremor, Cryptorchidism, Action tremor, Clumsines...	ORPHA:79239
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida...	ORPHA:98762
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia	OMIM:615924
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h...	OMIM:228300
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli...	OMIM:617284
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Epilepsy, Progressive Myoclonic 7	Myoclonus, Tremor, Ataxia	OMIM:616187
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman...	ORPHA:521406
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am...	OMIM:614837
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Multiple System Atrophy	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:102
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk...	OMIM:213600
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Adrenal Hypoplasia, Congenital	Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia	OMIM:300200
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Male hypogonadism, Spastic tetraplegia, Resting tremor, Bradykinesia, Tremor,...	OMIM:300055
Ovarian Dysgenesis 3	Female infertility, Primary amenorrhea	OMIM:614324
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Delayed menarche, Dystonia, Oculogyric crisis, Tremor	ORPHA:330050
Spinocerebellar Ataxia 18	Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis	OMIM:607458
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Spinocerebellar Ataxia Type 37	Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis	ORPHA:363710
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
4H Leukodystrophy	Decreased response to growth hormone stimulation test, Dysmetria, Tremor, Abnormality of extrapyr...	ORPHA:289494
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Hyperphenylalaninemia, Bh4-Deficient, C	Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis	OMIM:261630
Multiple System Atrophy, Parkinsonian Type	Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py...	ORPHA:98933
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia	ORPHA:98763
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait	OMIM:600363
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Hypogonadotropic hypogonadism, Babinski sign, Ata...	OMIM:607694
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia	OMIM:128235
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Spinocerebellar Ataxia 7	Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Babinski sig...	OMIM:164500
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Parkins...	OMIM:300623
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis	OMIM:614897
Multiple System Atrophy, Cerebellar Type	Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism...	ORPHA:227510
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea	OMIM:613546
Spinocerebellar Ataxia 23	Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign	OMIM:610245
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, B...	ORPHA:397946
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf...	OMIM:617091
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Infertility, Decreased female libido, ...	ORPHA:330015
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Breast hy...	ORPHA:432
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig...	OMIM:600116
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi...	OMIM:615157
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia	OMIM:617836
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Dysmetria, Ataxia	OMIM:617917
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Cryptorchidism, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyel...	OMIM:618060
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia	OMIM:213200
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdiadochokinesis	OMIM:618049
Trisomy X	Precocious puberty, Premature ovarian insufficiency, Secondary amenorrhea, Tremor	ORPHA:3375
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Hypogonadotropic hypogonadism, Abno...	OMIM:614381
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion...	ORPHA:53351
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla...	ORPHA:3130
Kallmann Syndrome	Ataxia, Abnormal morphology of female internal genitalia, Decreased testicular size, Paraplegia, ...	ORPHA:478
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Female pseudohermaphroditism, Adrenal hyperplasia, Ambiguous genitalia, Oligo...	ORPHA:786
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Ciliary Dyskinesia, Primary, 18	Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility	OMIM:614874
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Tremor, Parkinsonism, Lower limb spasticity, Macroorchidism	ORPHA:3077
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head...	OMIM:618877
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Male hypogonadism, Precocious puberty in females, Elevated circulating lu...	ORPHA:90793
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad...	OMIM:308700
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis...	OMIM:606693
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia	ORPHA:70594
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Leukodystrophy, Hypomyelinating, 6	Spasticity, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoathetosis	OMIM:612438
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Myotonic Dystrophy 2	Hypogonadism, Elevated circulating follicle stimulating hormone level, Oligozoospermia	OMIM:602668
Leukodystrophy, Hypomyelinating, 11	Spasticity, Myoclonus, Tremor, Ataxia	OMIM:616494
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Hypermanganesemia With Dystonia 2	Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa...	OMIM:617013
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea	ORPHA:247768
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer...	ORPHA:85450
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy...	ORPHA:352649
Gapo Syndrome	Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea	ORPHA:2067
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Ataxia With Vitamin E Deficiency	Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,...	ORPHA:96
Adult-Onset Autosomal Dominant Leukodystrophy	Upper limb postural tremor, Spasticity, Tetraparesis, Gait ataxia, Action tremor, Dysmetria, Trem...	ORPHA:99027
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Abnormal pyramidal...	OMIM:105210
Young-Onset Parkinson Disease	Spasticity, Male sexual dysfunction, Female sexual dysfunction, Tremor, Rigidity, Dystonia, Brady...	ORPHA:2828
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst...	OMIM:128100
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Clitoral hypertrophy, Abnormal labia majora morphology, Congenital adrenal hyperplasia, Decreased...	ORPHA:90791
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Amenorrhea	OMIM:110100
Combined Oxidative Phosphorylation Deficiency 18	Increased mitochondrial number, Tremor, Dysmetria	OMIM:615578
Primary Ciliary Dyskinesia	Abnormal sperm motility, Female infertility, Male infertility	ORPHA:244
Spinocerebellar Ataxia Type 21	Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell...	ORPHA:98773
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal male external genitalia morphology, Abnormal ovarian morphology, Elevated circulating lu...	ORPHA:95699
Spinocerebellar Ataxia 8	Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia	OMIM:608768
Gerstmann-Straussler Disease	Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal...	OMIM:137440
Congenital Bile Acid Synthesis Defect Type 4	Hypogonadism, Cholelithiasis, Tremor, Ataxia	ORPHA:79095
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa...	OMIM:613280
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Myopathy, Mitochondrial, And Ataxia	Increased circulating prolactin concentration, Limb ataxia, Dysmetria, Tremor, Primary amenorrhea...	OMIM:617675
Multiple System Atrophy 1, Susceptibility To	Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia, Impotence	OMIM:146500
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa...	ORPHA:240071
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Intention tremor, Tremor, Hypoplasi...	OMIM:208900
Aceruloplasminemia	Blepharospasm, Involuntary movements, Abnormal pancreas morphology, Chorea, Limb ataxia, Gait ata...	ORPHA:48818
Carney Complex	Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Euthyr...	ORPHA:1359
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Breast hypoplasia, Oligozoospermia	OMIM:614813
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Titubation, Dysmetria, Ataxia	OMIM:619405
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Fasciculations, Cryptorchidism, Tremor, Limb hypertonia, Exaggerated startle response	OMIM:620327
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Tremor, Ataxia	OMIM:201100
Bloom Syndrome	Premature ovarian insufficiency, Azoospermia, Oligozoospermia, Male infertility	ORPHA:125
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Increased circulating prolactin concentration, Decreased fertility ...	ORPHA:91347
Parkinson Disease, Late-Onset	Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia	OMIM:168600
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi...	ORPHA:199351
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Streak ovary, Decreased fertility, Oligomenorrhea, Premature ovarian insuffic...	ORPHA:572333
Bardet-Biedl Syndrome 1	Ataxia, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Vaginal atresia, Micro...	OMIM:209900
Parkinson Disease 20, Early-Onset	Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia	OMIM:615530
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor...	OMIM:612716
Fanconi Anemia, Complementation Group A	Cryptorchidism, Hypergonadotropic hypogonadism, Male infertility	OMIM:227650
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Oligozoospermia, Micropenis, Infertility	ORPHA:3310
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:99413
Turner Syndrome	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:881
Mosaic Monosomy X	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary amenorrhea	ORPHA:99226
Alström Syndrome	Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Poor fine motor coord...	ORPHA:64
Cystic Fibrosis	Absent vas deferens, Male infertility	ORPHA:586
Intellectual Developmental Disorder, Autosomal Recessive 38		OMIM:615516

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 Herc2

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 Herc2.

No publications found that use IMPC mice or data for Herc2.

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MGI Allele	Allele Type	Produced
Herc2^{em1(IMPC)Marc}	Deletion	Mice
Herc2^tm1aNarl	KO first allele (reporter-tagged insertion with conditional potential)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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