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Gene: Foxi1 MGI:1096329

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

forkhead box I1

Synonyms:

Fkh10, Hfh3, HFH-3

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 Foxi1 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 Foxi1 (2 diseases)
Human diseases predicted to be associated with Foxi1 (430 diseases)

The table below shows human diseases associated to Foxi1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pendred Syndrome		Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Ataxia...	ORPHA:705
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct		Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl...	OMIM:600791

The table below shows human diseases predicted to be associated to Foxi1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Spermatogenic Failure 72	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular...	OMIM:619867
Spermatogenic Failure 34	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:618153
Spermatogenic Failure 37	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618429
Spermatogenic Failure 18	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:617576
Spermatogenic Failure 33	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618152
Spermatogenic Failure 46	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:619095
Spermatogenic Failure 27	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:617965
Spermatogenic Failure 43	Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 49	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 35	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe...	OMIM:618341
Spermatogenic Failure 65	Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m...	OMIM:619712
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 56	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:301059
Spermatogenic Failure 63	Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 40	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell...	OMIM:618664
Spermatogenic Failure 76	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:620084
Spermatogenic Failure 42	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf...	OMIM:618745
Spermatogenic Failure 58	Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog...	OMIM:619585
Spermatogenic Failure 47	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:619102
Spermatogenic Failure 39	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe...	OMIM:618643
Spermatogenic Failure 54	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,...	OMIM:619379
Spermatogenic Failure 32	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:614822
Male Infertility Due To Acephalic Spermatozoa	Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep...	ORPHA:529970
Partial Chromosome Y Deletion	Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi...	ORPHA:1646
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:618670
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a...	OMIM:619528
Spermatogenic Failure 25	Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert...	OMIM:617960
Spermatogenic Failure 7	Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm	OMIM:612997
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Spermatogenic Failure 16	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Spermatogenic Failure 44	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:619044
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism	OMIM:618110
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 51	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:619177
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology	OMIM:619696
Deafness, Autosomal Recessive 109	Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment	OMIM:618013
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
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 5	Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head	OMIM:243060
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619878
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 74	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619937
Deafness-Infertility Syndrome	Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit...	OMIM:611102
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia	ORPHA:98797
Spermatogenic Failure 70	Oligospermia, Reduced sperm motility, Azoospermia, Male infertility	OMIM:619828
Spermatogenic Failure 21	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617644
Spermatogenic Failure 24	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile...	OMIM:617959
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia	OMIM:619108
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Spermatogenic Failure 1	Oligospermia, Cryptozoospermia, Male infertility	OMIM:258150
Isochromosomy Yq	Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr...	ORPHA:98798
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Deafness, Autosomal Dominant 80	Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear...	OMIM:619274
Deafness-Oligodontia Syndrome	Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo	ORPHA:3230
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Spermatogenic Failure 38	Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c...	OMIM:618433
Deafness, X-Linked 6	Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment	OMIM:300914
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
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Male infertility	OMIM:261550
Spermatogenic Failure 17	Male infertility	OMIM:617214
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Branchiootic Syndrome 1	Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M...	OMIM:602588
Deafness, Autosomal Dominant 77	Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Primary Dystonia, Dyt13 Type	Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo...	ORPHA:98807
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Male infertility, Obstructive azoospermia	OMIM:301060
Pendred Syndrome	Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Ataxia...	ORPHA:705
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl...	OMIM:600791
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Sensorineural hearing impairment, Nephrolithiasis, Renal tubular acidosis	OMIM:267300
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s...	ORPHA:399808
Opticocochleodentate Degeneration	Cochlear degeneration, Hearing impairment	OMIM:258700
Spermatogenic Failure 12	Abnormal male germ cell morphology, Infertility, Azoospermia	OMIM:615413
Say Syndrome	Cystic renal dysplasia, Macrotia, Proximal renal tubular acidosis	OMIM:181180
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Benign Paroxysmal Torticollis Of Infancy	Torticollis, Abnormal head movements, Ataxia, Vertigo	ORPHA:71518
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 75	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619949
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou...	ORPHA:261529
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Distal renal tubular acidosis, Bilateral sensorineural hearing impairment, Nephrocalcinosis, Hype...	OMIM:602722
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Usher Syndrome Type 1	Aplasia/Hypoplasia of the cerebellum, Vestibular hypofunction, Sensorineural hearing impairment, ...	ORPHA:231169
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,...	OMIM:300614
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria, Lo...	OMIM:613404
Pendred Syndrome	Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment	OMIM:274600
Spermatogenic Failure 77	Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa	OMIM:620103
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia	ORPHA:48
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Renal dysplasia, Lactic acidosis, Renal cyst, Increased serum lactate, Re...	OMIM:614922
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi...	OMIM:303110
Deafness, Autosomal Dominant 9	Cochlear degeneration, Postlingual sensorineural hearing impairment, Tinnitus, Vertigo	OMIM:601369
Usher Syndrome Type 3	Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology	ORPHA:231183
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Autosomal Dominant Spastic Ataxia Type 1	Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Limb ataxia, Impai...	ORPHA:251282
Deafness, X-Linked 2	Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s...	OMIM:304400
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Sensorineural hearing impairment, Proximal renal tubular acidosis, Lactic acidosis, Increased ser...	OMIM:615824
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Nephrocalcinosis, Reduced renal cor...	OMIM:208085
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged...	ORPHA:90646
Familial Male-Limited Precocious Puberty	Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility	ORPHA:3000
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Guanidinoacetate Methyltransferase Deficiency	Chorea, Hyperactivity, Abnormal head movements, Ataxia, Athetosis, Dystonia	ORPHA:382
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Low-set ears, Hyperactivity	ORPHA:436151
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:616950
Vici Syndrome	Sensorineural hearing impairment, Renal tubular acidosis, Cerebellar hypoplasia, Hypoplasia of th...	ORPHA:1493
Spermatogenic Failure 2	Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia	OMIM:108420
Diethylstilbestrol Syndrome	Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi...	ORPHA:1916
Fraxe Intellectual Disability	Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent ear helix, Imp...	ORPHA:100973
Bor Syndrome	Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Ex...	ORPHA:107
Testicular Regression Syndrome	Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit...	ORPHA:983
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Gracile Syndrome	Renal Fanconi syndrome, Hearing impairment, Lactic acidosis	ORPHA:53693
Hydroxykynureninuria	Metabolic acidosis, Congenital sensorineural hearing impairment, Renal tubular acidosis	ORPHA:79155
Branchiootorenal Syndrome 1	Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch...	OMIM:113650
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Sensorineural hearing impairment, Glycosuria, Stage 5 chronic kidney disease, Bilateral sensorine...	OMIM:268315
Spermatogenic Failure 8	Oligospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Kearns-Sayre Syndrome	Renal Fanconi syndrome, Sensorineural hearing impairment, Renal tubular acidosis, Lactic acidosis	OMIM:530000
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Spermatogenic Failure 28	Decreased testicular size, Male infertility, Non-obstructive azoospermia	OMIM:618086
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob...	ORPHA:399805
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Sensorineural hearing impairment, Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia...	OMIM:146255
Leigh Syndrome	3-Methylglutaconic aciduria, Macrotia, Sensorineural hearing impairment, Renal tubular acidosis, ...	ORPHA:506
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Renal tubular acidosis, Lactic acidosis, Increased serum lactate, Hypospadias, Abnormal pinna mor...	OMIM:615471
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Episodic Ataxia Type 4	Abnormal head movements, Ataxia, Vertigo	ORPHA:79136
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os...	ORPHA:50815
Otofaciocervical Syndrome 1	Cupped ear, Conductive hearing impairment, Mixed hearing impairment, Hypoplasia of the cochlea	OMIM:166780
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Abnormal head movements	OMIM:616939
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Sensorineural hearing impairment, Glycosuria, Hyperphosphaturia, Lactic acidosis, ...	OMIM:220110
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Hyperphosphaturia, Lactic acidosis, Bilateral sensorineural hearing im...	ORPHA:436271
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor...	ORPHA:52368
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul...	OMIM:611584
Fragile X Syndrome	Recurrent hand flapping, Hyperactivity, Macrotia, Abnormal head movements	OMIM:300624
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperchloremic acidosis, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabs...	OMIM:604278
Warsaw Breakage Syndrome	Cupped ear, Hearing impairment, Hypoplasia of the cochlea	OMIM:613398
Chudley-Mccullough Syndrome	Severe sensorineural hearing impairment, Cerebellar dysplasia, Cerebellar hypoplasia	OMIM:604213
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism	ORPHA:356996
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Congenital sensorineural hearing impairment, Generalized aminoaciduria	OMIM:606528
Medullary Sponge Kidney	Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis	ORPHA:1309
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis...	ORPHA:754
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Sensorineural hearing impairment, Hypocitraturia, Hypermagne...	ORPHA:18
Leigh Syndrome With Cardiomyopathy	Renal tubular acidosis, Renal dysplasia, Abnormal renal tubule morphology, Renal agenesis, Increa...	ORPHA:70474
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Sensorineural hearing impairment, Renal tubular acidosis, Recurrent otitis media, Chiari type I m...	OMIM:619575
Apert Syndrome	Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural...	ORPHA:87
Spermatogenic Failure 14	Male infertility, Azoospermia, Late spermatogenesis maturation arrest	OMIM:615842
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Infertility, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyo...	OMIM:264300
Crouzon Syndrome	Conductive hearing impairment, Narrow internal auditory canal, Chiari malformation, Cerebellar hy...	ORPHA:207
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Proximal tubulopathy, Medullary nephrocalcinosis, High-frequency ...	OMIM:619743
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Severe lactic acidosis,...	ORPHA:255249
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Cochlear degeneration, Hearing impairment, Spinocerebellar atrophy	ORPHA:95433
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria	OMIM:610205
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Narrow internal auditory canal, Hypoplasia of penis, Low-se...	ORPHA:990
Gorham-Stout Disease	Chiari type I malformation, Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Organic aciduria, Cerebellar atrophy, Renal tubular acidosis, Stress/infection-induced lactic aci...	ORPHA:431361
Pyruvate Carboxylase Deficiency	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis	OMIM:266150
Otosclerosis 7	Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a...	OMIM:611572
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hypogonadotropic hy...	ORPHA:752
Isolated Follicle Stimulating Hormone Deficiency	Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper...	ORPHA:52901
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Gait ataxia, Recurrent hand flapping, Hand tremor, Dysphagia, Broad-based gait	OMIM:617862
Intellectual Developmental Disorder, X-Linked 104	Ataxia, Hyperactivity, Tremor, Abnormal pinna morphology	OMIM:300983
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking	OMIM:309548
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hyperchloremic metabolic acidosis, Distal renal tubular acidosis, Nephrocalcinosis, ...	OMIM:611590
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria	OMIM:239199
Distal Monosomy 10Q	Patent ductus arteriosus, Vesicoureteral reflux, Enuresis, Cerebellar hypoplasia, Acute kidney in...	ORPHA:96148
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Aplasia of the inner ear, Microtia, first degree, Anteverted ears, Profound sensorineural hearing...	OMIM:610706
Androgen Insensitivity, Partial	Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro...	OMIM:312300
46,Xx Ovotesticular Disorder Of Sex Development	Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ...	ORPHA:2138
Fanconi-Bickel Syndrome	Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Ne...	ORPHA:2088
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment, Inability to walk, Stereotypical hand wringing, Choreoathetosis, D...	OMIM:618497
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Low-set ears, Renal tubular acidosis	OMIM:613457
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Renal cell carcinoma, Renal ag...	ORPHA:93111
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Choreoathetosis, Ataxia, Generalized dystonia, Dystonia, Jerky head movements	OMIM:245348
Osteopetrosis With Renal Tubular Acidosis	Macrotia, Conductive hearing impairment, Renal tubular acidosis, Metabolic acidosis, Distal renal...	ORPHA:2785
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Christianson Syndrome	Gait ataxia, Macrotia, Truncal ataxia, Abnormal repetitive mannerisms, Death in early adulthood, ...	ORPHA:85278
Spinocerebellar Ataxia, Autosomal Recessive 31	Bilateral sensorineural hearing impairment, Choreoathetosis, Ataxia, Tremor, Dystonia, Dysphagia,...	OMIM:619422
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Focal dystonia, Tremor, Dysphagia, Jerky head movements	ORPHA:240103
Huntington Disease-Like 1	Gait ataxia, Chorea, Abnormal head movements, Gait disturbance, Dysmetria, Restlessness, Jerky he...	ORPHA:157941
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Tremor, Low-set ears, Bruxism	OMIM:618718
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia	OMIM:300928
Hypomagnesemia 3, Renal	Hypocitraturia, Hypercitraturia, Hypermagnesiuria, Recurrent urinary tract infections, Hematuria,...	OMIM:248250
Chromosome 3Q29 Deletion Syndrome	Gait ataxia, Hyperactivity, Macrotia, Low-set ears, Posteriorly rotated ears	OMIM:609425
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Hearing impairment	OMIM:248510
Gitelman Syndrome	Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Diabetic ketoacidosis...	ORPHA:358
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m...	ORPHA:90797
Autosomal Recessive Spastic Paraplegia Type 46	Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A...	ORPHA:320391
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Macrotia, Sensorineural hearing impairment, Impaired histidine renal tubular absorp...	ORPHA:2158
Histidinuria Due To A Renal Tubular Defect	Histidinuria, Macrotia, Sensorineural hearing impairment, Impaired histidine renal tubular absorp...	OMIM:235830
Syngap1-Related Developmental And Epileptic Encephalopathy	Macrotia, Recurrent hand flapping, Gait disturbance, Ataxia, Abnormality of pain sensation, Tremo...	ORPHA:544254
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Renal tubular acidosis	OMIM:255120
Huntington Disease-Like 3	Chorea, Abnormal head movements, Progressive gait ataxia, Dystonia, Broad-based gait	ORPHA:157946
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Nephrocalcinosis, Nephrolithiasis, Distal renal tubular acidosis	OMIM:179800
Carnitine Palmitoyl Transferase 1A Deficiency	Renal tubular acidosis	ORPHA:156
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Chorea, Falls, Ataxia, Dystonia, Bruxism	OMIM:619150
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor	OMIM:618090
Developmental And Epileptic Encephalopathy 43	Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia	OMIM:617113
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Male infertility	OMIM:618801
Alagille Syndrome 1	Vesicoureteral reflux, Macrotia, Multiple small medullary renal cysts, Renal tubular acidosis, Re...	OMIM:118450
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behavio...	ORPHA:352490
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia	OMIM:234500
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Dilated fourth ventricle, Cerebellar dysplasia, Sensorineural hearing i...	OMIM:617751
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc...	OMIM:609136
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Tremor, Dystonia, Ataxia	OMIM:615924
Renal Tubular Acidosis Iii	Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G...	ORPHA:3337
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebe...	ORPHA:247815
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Metabolic ketoacidosis, Proteinuria, Renal Fanconi syndrome	ORPHA:263455
46,Xy Partial Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ...	ORPHA:251510
Foxg1 Syndrome	Inability to walk, Stereotypical hand wringing, Choreoathetosis, Abnormal repetitive mannerisms, ...	ORPHA:561854
Joubert Syndrome 23	Cerebellar dysplasia, Sensorineural hearing impairment	OMIM:616490
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Low-set ears, Recurrent hand flapping, Attention deficit hyperactivity disorder	OMIM:620021
Noonan Syndrome	Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai...	ORPHA:648
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Polycystic ovaries, Myoglobinuria, Renal tubular acidosis, Lactic acidosis	ORPHA:79240
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Male inferti...	ORPHA:99429
Isotretinoin-Like Syndrome	Anotia, Microtia, Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hearing impairment...	ORPHA:2306
Xq21 Microdeletion Syndrome	Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte...	ORPHA:1435
Multiple Acyl-Coa Dehydrogenase Deficiency	Proximal tubulopathy, Renal cortical cysts, Wide anterior fontanel, Glycosuria, Polycystic kidney...	OMIM:231680
Juvenile Huntington Disease	Gait ataxia, Chorea, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-based ...	ORPHA:248111
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Polycystic ovaries, Myoglobinuria, Renal tubular acidosis, Lactic acidosis	ORPHA:264580
Juvenile Nephropathic Cystinosis	Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast...	ORPHA:411634
Charge Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hy...	ORPHA:138
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Glomerulopathy, Abnormal renal tubule morphology, Hypercalciuria, Hematuria, Proxi...	ORPHA:534
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Polycystic ovaries, Myoglobinuria, Renal tubular acidosis	ORPHA:370
Proximal Renal Tubular Acidosis	Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Severe Intellectual Disability And Progressive Spastic Paraplegia	Dystonia, Difficulty walking, Abnormal repetitive mannerisms, Waddling gait	ORPHA:280763
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Renal hypoplasia, Vesicoureteral reflux, Sensorineural hearing impairment, Incomplete partition o...	OMIM:617660
Ogden Syndrome	Macrotia, Shuffling gait, Abnormal head movements, Torticollis, Low-set ears	ORPHA:276432
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus, Cerebellar dysplasia, Sensorineural hearing impairment, Cerebellar hypo...	ORPHA:500159
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Recurrent otitis media	OMIM:301076
Behavioral Variant Of Frontotemporal Dementia	Gait disturbance, Abnormal repetitive mannerisms, Disinhibition, Restlessness, Collectionism	ORPHA:275864
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Sensorineural hearing impairment, Bruxism, Tremor, Attention deficit hyperactivity...	OMIM:618342
Developmental And Epileptic Encephalopathy 67	Dystonia, Recurrent hand flapping, Athetosis, Gait disturbance	OMIM:618141
Familial Hypoaldosteronism	Decreased urinary potassium, Renal salt wasting, Proximal renal tubular acidosis, Metabolic acidosis	ORPHA:427
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm	OMIM:614874
47,Xyy Syndrome	Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Male infertility, Varicocele, Cryptorchid...	ORPHA:8
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Macrotia, Stereotypical hand wringing, Gait disturbance, Ataxia, Abnormal pinna mo...	OMIM:614104
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Hearing impairment, Broad-based gait	ORPHA:457260
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Hyperphosphaturia, Acidosis, Hyperchloremic metabolic acidosis, Abnorm...	ORPHA:411629
Optic Atrophy 11	Gait apraxia, Macrotia, Hyperactivity, Ataxia, Dysmetria, Attention deficit hyperactivity disorde...	OMIM:617302
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macrotia, Shuffling gait, Spastic gait, Resting tremor, Choreoathetosis, Ataxia, Tremor, Dystonia...	OMIM:300055
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Abnormal repetitive mannerisms, Inability to walk, Large earlobe	ORPHA:411986
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe...	OMIM:613807
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Gait ataxia, Chorea, Hyperactivity, Inability to walk, Impaired pain sensation, Impulsivity, Dysp...	ORPHA:500180
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Macrotia, Anteverted ears	OMIM:615541
Saethre-Chotzen Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Narrow internal auditory canal, Sen...	ORPHA:794
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Aplasia of the inner ear, Sensorineural hearing impairment, Hearing impairment, Microtia	ORPHA:90024
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Macrotia, Gait disturbance, Abnormal repetitive mannerisms	ORPHA:457240
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Cystinosis, Nephropathic	Aminoaciduria, Metabolic acidosis, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia,...	OMIM:219800
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Cln5 Disease	Hyperactivity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Dysmetria, Tremor, ...	ORPHA:228360
4Q21 Microdeletion Syndrome	Low-set ears, Tremor, Hearing impairment, Abnormal repetitive mannerisms	ORPHA:238750
Fructose Intolerance, Hereditary	Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Proximal renal tubu...	OMIM:229600
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis	OMIM:616457
48,Xxyy Syndrome	Abnormal repetitive mannerisms, Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic...	ORPHA:10
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Macrotia, Prominent crus of helix, Attention deficit hyperactivity disorder, Abnor...	OMIM:301013
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur...	OMIM:308990
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Vertigo	OMIM:613882
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Abnormal repetitive mannerisms	ORPHA:391307
Jeavons Syndrome	Abnormal head movements	ORPHA:139431
22Q11.2 Duplication Syndrome	Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit hyperactivity disorder, A...	ORPHA:1727
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Jerky head movements	ORPHA:64280
Optic Atrophy-Intellectual Disability Syndrome	Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, H...	ORPHA:401777
2Q23.1 Microdeletion Syndrome	Hyperactivity, Polyphagia, Ataxia, Abnormal repetitive mannerisms	ORPHA:228402
Alazami Syndrome	Low-set ears, Stereotypical hand wringing, Abnormal repetitive mannerisms, Abnormal eating behavior	ORPHA:319671
Classic Galactosemia	Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf...	ORPHA:79239
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria, Hearing impairment	OMIM:560000
Intellectual Developmental Disorder, X-Linked 21	Uplifted earlobe, Hyperactivity, Impulsivity	OMIM:300143
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased fertility, Irregular menstruation, Precocious puberty in females, Bifid scrotum, Bilate...	ORPHA:90793
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Gait ataxia, Inability to walk, Recurrent hand flapping, Choreoathetosis, Ataxia, Impulsivity, At...	OMIM:619580
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Truncal ataxia, Recurrent hand flapping, Limb ataxia, Broad-based gait, Low-set ears, Cupped ear,...	OMIM:617101
Pearson Marrow-Pancreas Syndrome	Lactic acidosis, Complex organic aciduria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Hyp...	OMIM:557000
Intellectual Developmental Disorder, Autosomal Recessive 38	Unsteady gait, Recurrent hand flapping, Hyperactivity	OMIM:615516
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Proximal 16P11.2 Microdeletion Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Choreoathetosis, Abnormal repeti...	ORPHA:261197
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul...	OMIM:310468
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal repetitive mannerisms	ORPHA:530983
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Abnormal repetitive mannerisms	ORPHA:3306
Cardiospondylocarpofacial Syndrome	Fusion of middle ear ossicles, Vesicoureteral reflux, Conductive hearing impairment, Enlarged ves...	OMIM:157800
Rett Syndrome	Inability to walk, Stereotypical hand wringing, Gait disturbance, Agitation, Abnormal repetitive ...	ORPHA:778
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Macrotia, Recurrent hand flapping, Recurrent otitis media, Abnormal repetitive man...	ORPHA:449291
Aromatase Deficiency	Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Female in...	ORPHA:91
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Hypoplastic helices, Abnormality of the ear, Repetitive compulsive behavior, Recurrent otitis med...	ORPHA:391372
Tyrosinemia, Type I	Enlarged kidney, Glomerular sclerosis, Nephrocalcinosis, Renal insufficiency, Renal Fanconi syndr...	OMIM:276700
Oromandibular Dystonia	Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Dysphagia, Gener...	ORPHA:93958
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Dystonia, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Pica, Tics, Ataxia, Tongue thrusting, Stereotypical body rocking, Unsteady gait, B...	OMIM:617865
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Chorea, Macrotia, Inability to walk, Repetitive compulsive behavior, Ataxia, Pain insensitivity, ...	OMIM:300260
Duane Retraction Syndrome	Narrow internal auditory canal, Sensorineural hearing impairment, Ectopic kidney, External ear ma...	ORPHA:233
Schinzel-Giedion Syndrome	Nephroblastoma, Infantile sensorineural hearing impairment, Hydronephrosis, Low-set ears, Wide an...	ORPHA:798
3P25.3 Microdeletion Syndrome	Sensorineural hearing impairment, Abnormal repetitive mannerisms, Ataxia, Abnormality of the oute...	ORPHA:435638
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Recurrent hand flapping, Gait disturbance, Agitation, Dystonia, Bruxism	OMIM:617903
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis...	OMIM:309000
Charge Syndrome	Patent ductus arteriosus, Sensorineural hearing impairment, Microtia, Aplasia of the semicircular...	OMIM:214800
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Hyperactivity, Progressive hearing impairment, Gait disturbance, Att...	ORPHA:43
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Ovot...	ORPHA:1772
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Gait imbalance, Recurrent hand flapping, Ataxia, Tremor, Tongue thrusting, Abnorma...	ORPHA:98794
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Hyperactivity, Sensorineural hearing impairment	OMIM:609727
Transketolase Deficiency	Attention deficit hyperactivity disorder, Hearing impairment, Abnormal repetitive mannerisms, Com...	ORPHA:488618
Tick-Borne Encephalitis	Vertigo, Abnormality of the vestibular nerve, Tinnitus, Hearing impairment, Abnormal medulla oblo...	ORPHA:297
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Abnormal repetitive mannerisms, Obses...	ORPHA:168491
Smith-Magenis Syndrome	Conductive hearing impairment, Gait disturbance, Abnormal repetitive mannerisms, Impaired pain se...	ORPHA:819
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Otosclerosis 10	Otosclerosis	OMIM:615589
Tubulointerstitial Nephritis And Uveitis Syndrome	Tubulointerstitial nephritis, Aminoaciduria, Beta 2-microglobulinuria, Renal tubular epithelial n...	ORPHA:91500
Renal Cysts And Diabetes Syndrome	Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididymal cyst, Hypospadias, Hy...	OMIM:137920
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Abnormal repetitive mannerisms, Ataxia	ORPHA:927
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis	OMIM:259730
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Sensorineural hearing impairment, Inability to walk, Torticollis, Abnormal repeti...	ORPHA:300570
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Male infertility	OMIM:614935
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Abnormal repetitive mannerisms	ORPHA:397612
Megalocornea-Intellectual Disability Syndrome	Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Protruding ear	ORPHA:2479
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Impaired renal concentrating ability, Hypokalemic hypochloremic metabolic alkalosis, Sensorineura...	OMIM:602522
16P11.2P12.2 Microdeletion Syndrome	Hyperactivity, Tics, Impaired pain sensation, Hearing impairment, Abnormal pinna morphology, Low-...	ORPHA:261211
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole...	OMIM:134600
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder	OMIM:617600
Sandifer Syndrome	Torticollis, Abnormal head movements	ORPHA:71272
Developmental And Speech Delay Due To Sox5 Deficiency	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms	ORPHA:313892
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Treacher-Collins Syndrome	Patent ductus arteriosus, Conductive hearing impairment, Narrow internal auditory canal, Microtia...	ORPHA:861
Lead Poisoning	Decreased female libido, Infertility, Abnormality of the menstrual cycle, Reduced sperm motility,...	ORPHA:330015
Brain-Lung-Thyroid Syndrome	Chorea, Hyperactivity, Sensorineural hearing impairment, Falls, Choreoathetosis, Ataxia, Compulsi...	ORPHA:209905
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:1001
Dilated Cardiomyopathy With Ataxia	Repetitive compulsive behavior, Ataxia, Action tremor, Bilateral sensorineural hearing impairment...	ORPHA:66634
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms	ORPHA:98784
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Hemoglobinuria, Glycosuria, Proteinuria, Hemosiderinuria, Renal insufficienc...	ORPHA:447
Bartter Syndrome Type 4	Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Hyperc...	ORPHA:89938
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Macrotia, Abnormal repetitive mannerisms, Ataxia, Dysphagia, Dystonia	ORPHA:496641
X-Linked Cerebral Adrenoleukodystrophy	Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Dysmetria, Difficulty walking, Dyspha...	ORPHA:139396
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Sensorineural hearing impairment	OMIM:608747
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Limb dystonia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Inability to walk	ORPHA:457351
Neurodegeneration With Brain Iron Accumulation 2B	Gait ataxia, Chorea, Hyperactivity, Dysdiadochokinesis, Dysmetria, Impulsivity, Dysphagia, Dyston...	OMIM:610217
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Hearing impa...	ORPHA:99885
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Abnormal repetitive mannerisms, Large earlobe, Dysmetria, Chronic o...	ORPHA:96121
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Gait ataxia, Abnormal repetitive mannerisms, Compulsive behaviors, Tremor, Attention deficit hype...	ORPHA:476126
Cystinosis	Abnormal repetitive mannerisms, Gait disturbance, Polydipsia	ORPHA:213
X-Linked Creatine Transporter Deficiency	Chorea, Hyperactivity, Ataxia, Athetosis, Dystonia	ORPHA:52503
Hereditary Amyloidosis With Primary Renal Involvement	Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility	ORPHA:85450
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Unsteady gait, Ataxia, Abnormal repetitive mannerisms	ORPHA:457279
Norrie Disease	Aplasia/Hypoplasia of the cerebellum, Macrotia, Sensorineural hearing impairment, Abnormal helix ...	ORPHA:649
Floating-Harbor Syndrome	Conductive hearing impairment, Congenital posterior urethral valve, Stage 5 chronic kidney diseas...	ORPHA:2044
White-Sutton Syndrome	Hyperactivity, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Compulsive behav...	ORPHA:468678
Von Hippel-Lindau Syndrome	Papillary cystadenoma of the epididymis, Epididymal cyst	OMIM:193300
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Purine Nucleoside Phosphorylase Deficiency	Hyperactivity, Sensorineural hearing impairment, Ataxia	ORPHA:760
Andersen-Tawil Syndrome	Renal hypoplasia, Low-set ears, Renal tubular dysfunction	ORPHA:37553
Mccune-Albright Syndrome	Renal phosphate wasting, Hyperphosphaturia, Ovarian cyst, Hearing impairment, Renal tubular dysfu...	ORPHA:562
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Low-set ears, Jerky head movements, Hearing impairment	ORPHA:369837
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Blepharospasm, Akinesia, Choreoathetosis, Gait disturbance, Ataxia, Tremor, Dyspha...	OMIM:234200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cerebellar dysplasia, Renal dysplasia, Microtia, Cerebellar hypoplasia, Cerebellar malformation, ...	OMIM:236670
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Low-set ears, Protruding ear	ORPHA:447997
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Disinhibition, Repetitive compulsive behavior, Polyphagia, Agitation	OMIM:607485
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism	OMIM:227650
Kleefstra Syndrome	Abnormal repetitive mannerisms, Chronic otitis media, Hearing impairment, Thickened helices	ORPHA:261494
Primary Ciliary Dyskinesia	Female infertility, Male infertility, Abnormal sperm motility	ORPHA:244
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Chorea, Choreoathetosis, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Ataxia, ...	ORPHA:522077
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Repetitive compulsive behavior, Bilateral sensorineural hearing impairment, Cupped ear, Isometric...	OMIM:619475
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Fanconi-Bickel Syndrome	Glycosuria, Hyperphosphaturia, Acidosis, Generalized aminoaciduria, Chronic acidosis, Renal tubul...	OMIM:227810
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
Wiedemann-Steiner Syndrome	Low-set ears, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia	ORPHA:319182
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Macrotia, Gait disturbance, Abnormal repetitive mannerisms, Protruding ear	ORPHA:464306
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gait ataxia, Repetitive compulsive behavior, Recurrent otitis media, Abnormal repetitive manneris...	ORPHA:513456
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Gait disturbance, Protr...	ORPHA:464311
Choreoacanthocytosis	Chorea, Hyperactivity, Blepharospasm, Head-banging, Falls, Resting tremor, Lingual dystonia, Limb...	ORPHA:2388
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Gait ataxia, Hyperactivity, Protruding ear, Hand tremor, Ataxia, Dysmetria, Posteriorly rotated e...	OMIM:614756
Familial Renal Glucosuria	Recurrent urinary tract infections, Glycosuria, Nephropathy, Enuresis, Renal tubular dysfunction	ORPHA:69076
Mucopolysaccharidosis Type 2	Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Otosclerosis, Abn...	ORPHA:580
Proteus Syndrome	Macrotia, Narrow internal auditory canal, Enlarged polycystic ovaries, Long penis, Renal cyst, Lo...	ORPHA:744
Von Hippel-Lindau Disease	Papillary cystadenoma of the epididymis, Epididymal cyst	ORPHA:892
Prader-Willi Syndrome Due To Translocation	Attention deficit hyperactivity disorder, Head-banging, Abnormal repetitive mannerisms, Compulsiv...	ORPHA:177907
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Abnormal repetitive mannerisms, Opisthotonus, Inability to walk	ORPHA:508533
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Thin ear helix, Abnormal repetitive mannerisms, Bilateral sens...	ORPHA:468631
Floating-Harbor Syndrome	Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele, Cryptorchidism, Gl...	OMIM:136140
Nmda Receptor Encephalitis	Chorea, Oculogyric crisis, Choreoathetosis, Abnormal repetitive mannerisms, Agitation, Opisthoton...	ORPHA:217253
1P36 Deletion Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Gait disturbance, Abno...	ORPHA:1606
Bloom Syndrome	Premature ovarian insufficiency, Oligospermia, Male infertility, Azoospermia	ORPHA:125
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetiti...	ORPHA:353281
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hearing impairment, Abnormal repetitive mannerisms	ORPHA:508498
Coccidioidomycosis	Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia	ORPHA:228123
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetiti...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetiti...	ORPHA:353277
Noonan Syndrome 1	Hypospadias, Male infertility, Hypogonadism, Cryptorchidism	OMIM:163950
Tuberous Sclerosis Complex	Impulsivity, Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Hyperactivity	ORPHA:805
Mowat-Wilson Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Inability to walk, Bruxism, Recu...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Sensorineural hearing impairment, Inability to walk, Bruxism, Recurrent otitis media, Abnormal re...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Sensorineural hearing impairment, Inability to walk, Bruxism, Recurrent otitis media, Abnormal re...	ORPHA:261552
Cystic Fibrosis	Male infertility	OMIM:219700

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 Foxi1

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 Foxi1.

No publications found that use IMPC mice or data for Foxi1.

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MGI Allele	Allele Type	Produced
Foxi1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Foxi1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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