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 (558 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pendred Syndrome		Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th...	ORPHA:705
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct		Sensorineural hearing impairment, Enlarged vestibular aqueduct, 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 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure, X-Linked, 6	Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Isochromosomy Yp	Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size	ORPHA:98797
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
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
Deafness-Oligodontia Syndrome	Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment	ORPHA:3230
Isochromosomy Yq	Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
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
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Spermatogenic Failure 17	Male infertility	OMIM:617214
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Pendred Syndrome	Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th...	ORPHA:705
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal tubular acidosis, Sensorineural hearing impairment, Nephrolithiasis	OMIM:267300
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Opticocochleodentate Degeneration	Cochlear degeneration, Hearing impairment	OMIM:258700
Say Syndrome	Macrotia, Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Guanidinoacetate Methyltransferase Deficiency	Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju...	ORPHA:382
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp...	ORPHA:399808
Usher Syndrome Type 1	Aplasia/Hypoplasia of the cerebellum, Abnormal cochlea morphology, Sensorineural hearing impairme...	ORPHA:231169
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Bilateral sensorineural hearing impairment,...	OMIM:602722
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Vertigo, Ataxia, Torticollis	ORPHA:71518
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
Ring Chromosome Y Syndrome	Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic acidosis, Low-set...	OMIM:613404
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Hearing impairment	OMIM:620270
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition...	OMIM:303110
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Dystonia, Tremor, Impaired vibration sensation in the lower limbs, Impaired propr...	ORPHA:251282
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,...	ORPHA:100973
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment	OMIM:601369
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Sensorineural hearing impairment, Proximal renal tubular acidosis, Lacti...	OMIM:615824
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Increased serum lactate, Renal hypoplasia, Renal cyst, Lactic acidosis, Rena...	OMIM:614922
7Q31 Microdeletion Syndrome	Hyperactivity, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-...	ORPHA:251061
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Metabolic acidosis, Low-set ears, Renal ...	OMIM:208085
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Vici Syndrome	Hypoplasia of the pons, Sensorineural hearing impairment, Ureteral atresia, Renal tubular acidosi...	ORPHA:1493
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Hydroxykynureninuria	Metabolic acidosis, Renal tubular acidosis, Congenital sensorineural hearing impairment	ORPHA:79155
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Gracile Syndrome	Lactic acidosis, Renal Fanconi syndrome, Hearing impairment	ORPHA:53693
Bor Syndrome	Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr...	ORPHA:107
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Sensorineural hearing impairment, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Bilater...	OMIM:268315
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Branchiootorenal Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:113650
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal r...	OMIM:619150
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Kearns-Sayre Syndrome	Lactic acidosis, Renal tubular acidosis, Sensorineural hearing impairment, Renal Fanconi syndrome	OMIM:530000
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Low-set ears	ORPHA:436151
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec...	ORPHA:983
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Gait ataxia, Low-set ears, Macrotia...	OMIM:609425
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Schizophrenia 15	Hyperactivity	OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thickened glomerular basem...	OMIM:146255
Leigh Syndrome	Cerebellar atrophy, Increased serum lactate, Ketoacidosis, Sensorineural hearing impairment, Lact...	ORPHA:506
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Hypospadias, Abnormal pinna morphology, Increased serum lactate, Protruding e...	OMIM:615471
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Abnorma...	OMIM:618718
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti...	OMIM:617862
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Dystonia...	ORPHA:52368
Fragile X Syndrome	Abnormal head movements, Hyperactivity, Macrotia, Self-biting, Recurrent hand flapping	OMIM:300624
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Episodic Ataxia Type 4	Abnormal head movements, Vertigo, Ataxia	ORPHA:79136
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements, Chorea	OMIM:616939
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Lactic acidosis, Renal tubular dysfunction, Aminoaciduria, Renal ...	ORPHA:436271
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Increased serum lactate, Sensorineural hearing impairment, Lactic...	OMIM:220110
Otofaciocervical Syndrome 1	Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea	OMIM:166780
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tubular acidosis, P...	OMIM:604278
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor	OMIM:300983
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Warsaw Breakage Syndrome	Hypoplasia of the cochlea, Cupped ear, Hearing impairment	OMIM:613398
Chudley-Mccullough Syndrome	Severe sensorineural hearing impairment, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:604213
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms	OMIM:619470
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Waardenburg Syndrome, Type 2E	Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul...	OMIM:611584
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior, Hearing impairment	OMIM:248510
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Congenital sensorineural hearing impairment, Generalized aminoaciduria	OMIM:606528
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolithiasis, Renal cyst,...	ORPHA:18
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive mannerisms	OMIM:615541
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Increased serum lactate, Enuresis, Renal Fanconi syndrome, Organi...	OMIM:619743
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Apert Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Chiari malformation, Abnormal se...	ORPHA:87
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Sensorineural hearing impairment, Metabolic acidosis, Renal tubular acidosis, Chiari type I malfo...	OMIM:619575
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Increased serum lactate, Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria	ORPHA:324525
Crouzon Syndrome	Chiari malformation, Cerebellar hypoplasia, Conductive hearing impairment, Narrow internal audito...	ORPHA:207
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Spinocerebellar atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia	OMIM:617820
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Aplasia/Hypoplasia of the cerebellum, Nar...	ORPHA:990
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Renal tubular acidosis, Stress/infection-induced lactic acidosis, Organic aci...	ORPHA:431361
Gorham-Stout Disease	Chiari type I malformation, Abnormality of the internal auditory canal, Hearing impairment	ORPHA:73
Pyruvate Carboxylase Deficiency	Increased serum lactate, Lactic acidosis, Proximal renal tubular acidosis	OMIM:266150
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity, Macrotia	OMIM:300928
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal...	OMIM:617695
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Metabolic acidosis, Nephrocalcinosis, Distal renal tubular acidosis, Hyperchloremic ...	OMIM:611590
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfol...	OMIM:619092
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Gait disturbance, Disinhibition, Dysto...	OMIM:600795
Distal Deletion 10Q	Abnormal morphology of the vestibule of the inner ear, Congenital sensorineural hearing impairmen...	ORPHA:96148
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria	OMIM:239199
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Chromosome 14Q11-Q22 Deletion Syndrome	Renal tubular acidosis, Patent ductus arteriosus, Low-set ears	OMIM:613457
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Tremor, Focal dystonia, Dysphagia, Jerky head movements	ORPHA:240103
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ...	OMIM:618917
Huntington Disease-Like 1	Restlessness, Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Gait disturbance, Jerky he...	ORPHA:157941
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Recurrent otitis media, Hyperactivity, Inflexible adherence to routines	OMIM:301076
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular aci...	ORPHA:2088
Christianson Syndrome	Death in early adulthood, Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxi...	ORPHA:85278
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Jerky head movements	OMIM:245348
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Metabolic acidosis, Renal tubular acidosis, Con...	ORPHA:2785
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Ataxia, Gait disturbance, Inappropriate laughter, Thick...	OMIM:614104
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv...	OMIM:618218
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Hartnup Disorder	Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Developmental And Epileptic Encephalopathy 30	Death in infancy, Abnormal repetitive mannerisms	OMIM:616341
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Xq28 (MECP2) duplication	Inability to walk, Gait ataxia, Death in childhood, Dysphagia, Macrotia, Abnormal repetitive mann...	DECIPHER:45
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Metabolic alkalosis, Vertigo, Tub...	ORPHA:358
Encephalopathy, Progressive, With Or Without Lipodystrophy	Tremor, Hyperactivity, Ataxia, Dystonia	OMIM:615924
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Death in infancy, Impulsivity, Aggressive behavior	OMIM:605899
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Sensorineural hearing impairment, Macr...	ORPHA:2158
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria, Sensorineural hearing impairment, Macr...	OMIM:235830
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Protruding ear, Low...	OMIM:618342
Carnitine Palmitoyltransferase I Deficiency	Renal tubular acidosis, Dicarboxylic aciduria	OMIM:255120
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, G...	ORPHA:275864
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Huntington Disease-Like 3	Abnormal head movements, Broad-based gait, Chorea, Progressive gait ataxia, Dystonia	ORPHA:157946
Lopes-Maciel-Rodan Syndrome	Dystonia, Tremor, Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Distal renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis	OMIM:179800
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Carnitine Palmitoyl Transferase 1A Deficiency	Renal tubular acidosis	ORPHA:156
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Partial Androgen Insensitivity Syndrome	Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral...	ORPHA:90797
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment	ORPHA:457260
Foxg1 Syndrome	Dystonia, Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive ma...	ORPHA:561854
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Sensorineural hearing impairment, Hypoplasia of the semicirc...	OMIM:609136
Autosomal Recessive Spastic Paraplegia Type 46	Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm...	ORPHA:320391
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypospadias, Sensorineural hearing impair...	OMIM:617751
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to ...	ORPHA:500180
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe...	OMIM:619725
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore...	OMIM:619580
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Renal Tubular Acidosis Iii	Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Aggressive behavior, Prominent crus of helix, Attention deficit hyperactivity diso...	OMIM:301013
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Progressive cerebellar ataxia, Dyst...	ORPHA:248111
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Renal Fanconi syndrome, Proteinuria, Metabolic ketoacidosis	ORPHA:263455
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Macrotia, Abnormal ...	OMIM:620292
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Lactic acidosis, Renal tubular acidosis, Myoglobinuria, Polycystic ovaries	ORPHA:79240
Smith-Magenis Syndrome	Hyperactivity, Impaired pain sensation, Abnormality of the outer ear, Self hugging, Head-banging,...	OMIM:182290
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c...	ORPHA:1435
Noonan Syndrome	Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin...	ORPHA:648
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Joubert Syndrome 23	Sensorineural hearing impairment, Cerebellar dysplasia	OMIM:616490
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Glomerulopathy, Renal insufficiency, Proteinuria, Increased se...	ORPHA:534
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Low-set ears, Attention defi...	ORPHA:352490
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Self-in...	OMIM:600430
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Lactic acidosis, Renal tubular acidosis, Myoglobinuria, Polycystic ovaries	ORPHA:264580
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external auditory canal, Bi...	ORPHA:2306
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal pinna morphology, Glutaric aciduria, Wide anterior fontanel, Generalized aminoaciduria, ...	OMIM:231680
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Charge Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cerebellum, External ear malformatio...	ORPHA:138
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms	OMIM:619317
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Self-injurious behavior, Bruxism, Macro...	OMIM:618004
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Sensorineural hearing impairment, Renal hypoplasia, Incomplete partition o...	OMIM:617660
Ogden Syndrome	Abnormal head movements, Torticollis, Shuffling gait, Low-set ears, Macrotia	ORPHA:276432
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi...	ORPHA:99429
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Paten...	ORPHA:500159
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, Abnormal repeti...	OMIM:617807
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation	OMIM:615516
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Abnormal repetitive mannerisms, Difficulty walking, Dystonia	ORPHA:280763
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Gait disturbance, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	ORPHA:457240
Familial Hypoaldosteronism	Decreased urinary potassium, Metabolic acidosis, Proximal renal tubular acidosis, Renal salt wasting	ORPHA:427
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ...	OMIM:617302
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment	OMIM:616351
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv...	OMIM:617808
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ...	ORPHA:228360
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Saethre-Chotzen Syndrome	Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Abnormal an...	ORPHA:794
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Prominent ear helix, Abnormal repetitive mannerisms, Large earlobe	ORPHA:411986
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Low-set ears, Abnormal repetitive mannerisms, Hearing impairment	ORPHA:238750
Fg Syndrome 3	Hyperactivity, Death in infancy, Sensorineural hearing impairment	OMIM:300406
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Posteriorly rotated ears, Aggressive behavior, Compulsive behaviors, Low-s...	OMIM:618430
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Hyperactivity, Broad-based gait, Aggressive behavior, Hearing impairment	OMIM:300958
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Hearing impairment	ORPHA:90024
Coffin-Siris Syndrome 7	Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio...	OMIM:618027
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox...	ORPHA:228402
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr...	ORPHA:8
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Impulsivity, Uplifted earlobe	OMIM:300143
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Macrotia, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Large earlobe, Gait imbalance, Low-set ears, Dy...	OMIM:619312
Hypomagnesemia 6, Renal	Impaired renal tubular reabsorption of magnesium, Vertigo	OMIM:613882
Childhood Absence Epilepsy	Punding, Jerky head movements, Attention deficit hyperactivity disorder	ORPHA:64280
Jeavons Syndrome	Abnormal head movements	ORPHA:139431
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Difficulty walki...	OMIM:123450
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Potocki-Lupski Syndrome	Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hearing impairment	OMIM:610883
X-Linked Adrenoleukodystrophy	Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Progressive hearing impairment, ...	ORPHA:43
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Macrotia, Self-injurious behavior, Abnormal temper tantrums, ...	ORPHA:449291
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Chorea, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abnorma...	OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Ataxia, Inability to walk, Chorea, Repetitive compulsive behavior, Dysphagia,...	OMIM:300260
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp...	OMIM:618825
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Oroticaciduria	OMIM:616457
Adenylosuccinase Deficiency	Hyperactivity, Aggressive behavior, Inability to walk, Gait ataxia, Opisthotonus, Inappropriate l...	OMIM:103050
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Self-biting, Abnormal repe...	ORPHA:3306
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Bilateral conductive hearing impairment, Low-set ears, Dysphagia, Abnormal rep...	OMIM:617802
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Macrotia, Abnormal repeti...	OMIM:619435
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Low-set ears, Attention deficit hyperactivity disorder, Abnormal...	OMIM:618205
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D...	OMIM:617061
Alazami Syndrome	Abnormal eating behavior, Low-set ears, Abnormal repetitive mannerisms, Self-mutilation, Stereoty...	ORPHA:319671
48,Xxyy Syndrome	Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic otitis media, Abnormal repetiti...	ORPHA:10
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria, Hearing impairment	OMIM:560000
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compulsive behaviors, Abno...	ORPHA:1727
Pearson Marrow-Pancreas Syndrome	Hypercalciuria, Lactic acidosis, Metabolic acidosis, 3-Methylglutaric aciduria, Renal Fanconi syn...	OMIM:557000
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Asymmetry of the ears, Sensorineural hearing impairment, Pica, Low-set ears, Obses...	OMIM:617796
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Spastic Paraplegia 29, Autosomal Dominant	Impaired vibratory sensation, Sensorineural hearing impairment, Hyperactivity	OMIM:609727
Optic Atrophy-Intellectual Disability Syndrome	Repetitive compulsive behavior, Protruding ear, Compulsive behaviors, Abnormal helix morphology, ...	ORPHA:401777
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bru...	OMIM:300912
Cardiospondylocarpofacial Syndrome	Posteriorly rotated ears, Conductive hearing impairment, Congenital sensorineural hearing impairm...	OMIM:157800
Lamb-Shaffer Syndrome	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Abnormal temper tantrums	ORPHA:530983
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Gait...	ORPHA:98794
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Protruding ear, Athetosis, Bruxism, Abnormal repetitive manne...	OMIM:613454
Ciliary Dyskinesia, Primary, 9	Male infertility, Absent outer dynein arms	OMIM:612444
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi...	ORPHA:90793
Tyrosinemia, Type I	Renal insufficiency, Nephrocalcinosis, Metabolic acidosis, Renal Fanconi syndrome, Glomerular scl...	OMIM:276700
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Choreoathetosis, Attention deficit hyperactivity disorder, Dyst...	ORPHA:261197
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Miscarriage, Aggressive behavior, Prominent crus of helix, Protr...	OMIM:619695
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compulsive behaviors, Att...	OMIM:300986
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm...	OMIM:616393
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit...	ORPHA:208447
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Underfolded superior helices, Gait disturbance, Attention ...	OMIM:300352
Duane Retraction Syndrome	Ectopic kidney, External ear malformation, Sensorineural hearing impairment, Stenosis of the exte...	ORPHA:233
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction	ORPHA:1380
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Charge Syndrome	Mixed hearing impairment, Renal agenesis, Lop ear, Aplasia of the semicircular canal, Sensorineur...	OMIM:214800
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Abnormal repetitive manner...	OMIM:618914
Schinzel-Giedion Syndrome	Abnormality of the stapes, Hypospadias, Wide anterior fontanel, Abnormality of the ureter, Nephro...	ORPHA:798
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Rett Syndrome	Inability to walk, Gait disturbance, Agitation, Difficulty walking, Dystonia, Abnormal repetitive...	ORPHA:778
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ...	ORPHA:91500
Transketolase Deficiency	Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal...	ORPHA:488618
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Chorea, Athetosis, Dystonia, Self-mutilation	ORPHA:52503
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Self-injurious behavior, Compulsive behaviors, Low-set ears, Abnormal r...	OMIM:613174
Tick-Borne Encephalitis	Abnormal medulla oblongata morphology, Vertigo, Tinnitus, Abnormality of the vestibular nerve, He...	ORPHA:297
New-Onset Refractory Status Epilepticus	Abnormal head movements	ORPHA:363558
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Obsessive-compul...	ORPHA:168491
Otosclerosis 10	Otosclerosis	OMIM:615589
White-Sutton Syndrome	Waddling gait, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive ...	OMIM:616364
3P25.3 Microdeletion Syndrome	Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac...	ORPHA:435638
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Congenital Disorder Of Glycosylation, Type Iia	Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Unsteady gait, L...	OMIM:212066
Smith-Magenis Syndrome	Impaired pain sensation, Self-injurious behavior, Gait disturbance, Attention deficit hyperactivi...	ORPHA:819
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis	OMIM:259730
Phelan-Mcdermid Syndrome	Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ...	OMIM:606232
Blepharophimosis-Impaired Intellectual Development Syndrome	Posteriorly rotated ears, Attention deficit hyperactivity disorder, Low-set ears, Abnormal repeti...	OMIM:619293
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia, Head tremor	OMIM:619428
Renal Cysts And Diabetes Syndrome	Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ...	OMIM:137920
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Head-banging, Attention deficit hyperactivity disorder, Low-set ears, Frequent temper tantrums, A...	OMIM:619103
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti...	OMIM:615656
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Hypokalemic hypochloremic metabolic alkalosis, Renal...	OMIM:602522
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Sensorineural hearing impairment	OMIM:608747
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Sensorineural hearing impairment, Self-injurious behavior, Limb dystonia, Abno...	ORPHA:457351
Treacher-Collins Syndrome	Hypoplasia of penis, Patent ductus arteriosus, Microtia, Conductive hearing impairment, Abnormali...	ORPHA:861
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Sensorineural hearing impairment, Ataxia, Protruding ear	ORPHA:2479
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Dystonia, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag...	OMIM:610217
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
Sandifer Syndrome	Abnormal head movements, Torticollis	ORPHA:71272
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia	ORPHA:79264
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Compulsive behaviors, Abnormal repetitive manneri...	OMIM:610253
Den Hoed-De Boer-Voisin Syndrome	Posteriorly rotated ears, Ataxia, Tremor, Inability to walk, Death in adolescence, Agitation, Dys...	OMIM:619229
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Abnormal repetitive mannerisms, Agitation, Ataxia	ORPHA:927
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Inability to walk, Sensorineural hearing impairment, Bilateral senso...	ORPHA:300570
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ...	ORPHA:447
Dilated Cardiomyopathy With Ataxia	Ataxia, Repetitive compulsive behavior, Bilateral sensorineural hearing impairment, Dystonia, Act...	ORPHA:66634
Bartter Syndrome Type 4	Hypokalemic metabolic alkalosis, Renal salt wasting, Increased urinary potassium, Impaired renal ...	ORPHA:89938
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm...	ORPHA:330015
Niemann-Pick Disease, Type C2	Death in infancy, Dystonia, Ataxia, Dysphagia, Death in childhood, Abnormal repetitive mannerisms	OMIM:607625
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper tantrums, Abnormal repe...	ORPHA:457279
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:476126
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Broad-based gait, Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior...	OMIM:614756
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
2Q37 Microdeletion Syndrome	Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:1001
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Prominent antihelix, Macrotia, Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Norrie Disease	Sensorineural hearing impairment, Protruding ear, Abnormal cochlea morphology, Abnormal helix mor...	ORPHA:649
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Ataxia, Dysphagia, Dystonia, Macrotia, Abnormal repetitive mannerisms	ORPHA:496641
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
White-Sutton Syndrome	Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repetitive mannerisms, Sen...	ORPHA:468678
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Collectionism, Hyperactivity, Aggressive behavior, Unsteady ga...	ORPHA:96121
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Overfolded helix, Dysmetr...	OMIM:617330
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Von Hippel-Lindau Syndrome	Papillary cystadenoma of the epididymis, Epididymal cyst	OMIM:193300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Protruding ear, Tics, Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Intenti...	OMIM:619475
Bainbridge-Ropers Syndrome	Death in infancy, Posteriorly rotated ears, Inability to walk, Self-injurious behavior, Low-set e...	OMIM:615485
Andersen-Tawil Syndrome	Renal tubular dysfunction, Renal hypoplasia, Low-set ears	ORPHA:37553
Kleefstra Syndrome	Aggressive behavior, Chronic otitis media, Self-injurious behavior, Thickened helices, Abnormal r...	ORPHA:261494
Mccune-Albright Syndrome	Hyperphosphaturia, Renal phosphate wasting, Ovarian cyst, Renal tubular dysfunction, Hearing impa...	ORPHA:562
Cystinosis	Abnormal repetitive mannerisms, Polydipsia, Gait disturbance	ORPHA:213
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Jerky head movements, Low-set ears, Hearing impairment	ORPHA:369837
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microtia, Cerebellar hypoplasia, Low-set ears, Atresia of the external auditory canal, Cerebellar...	OMIM:236670
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Abnormal ...	ORPHA:522077
Pitt-Hopkins Syndrome	Cupped ear, Gait ataxia, Self-injurious behavior, Thickened helices, Abnormal repetitive mannerisms	OMIM:610954
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Protruding ear, Low-set ears, Dysphagia, Abnormal repetitive mannerisms	ORPHA:447997
Choreoacanthocytosis	Chorea, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vib...	ORPHA:2388
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp...	ORPHA:85450
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Joubert Syndrome 6	Abnormal repetitive mannerisms, Ataxia	OMIM:610688
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Chronic acidosis, Hypercalciuria, Generalized aminoaci...	OMIM:227810
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Posteriorly rotated ears, Sensorineural hearing impairment, Self-injurious behavio...	OMIM:619512
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Choreoathetosis, Blepharospasm, G...	OMIM:234200
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Abnormal repe...	OMIM:301040
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Wide anterior fontanel, Patent ductus arteriosus	OMIM:614886
Van Esch-O'Driscoll Syndrome	Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit...	OMIM:301030
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Aggressive behavior,...	OMIM:620330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Impaired pain sensation, Attention deficit hyperactivity disorder, Death in childhood, Abnormal r...

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