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 |
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Posteriorly rotated ears, Sensorineural hearing impairment, Microtia, Low-set ears, Abnormal repe... |
OMIM:301040 |
Primary Ciliary Dyskinesia |
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Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Pilarowski-Bjornsson Syndrome |
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Abnormal repetitive mannerisms |
OMIM:617682 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Renal tubular dysfunction, Wide anterior fontanel, Patent ductus arteriosus |
OMIM:614886 |
Van Esch-O'Driscoll Syndrome |
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Impulsivity, Protruding ear, Microtia, Attention deficit hyperactivity disorder, Abnormal repetit... |
OMIM:301030 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Aggressive behavior,... |
OMIM:620330 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Impaired pain sensation, Attention deficit hyperactivity disorder, Death in childhood, Abnormal r... |
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