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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
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.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Foxi1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Foxi1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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