Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... |
OMIM:619528 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Deafness-Oligodontia Syndrome |
|
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo |
ORPHA:3230 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... |
ORPHA:98807 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Ataxia... |
ORPHA:705 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Nephrolithiasis, Renal tubular acidosis |
OMIM:267300 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Say Syndrome |
|
Cystic renal dysplasia, Macrotia, Proximal renal tubular acidosis |
OMIM:181180 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Abnormal head movements, Ataxia, Vertigo |
ORPHA:71518 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Distal renal tubular acidosis, Bilateral sensorineural hearing impairment, Nephrocalcinosis, Hype... |
OMIM:602722 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Usher Syndrome Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Vestibular hypofunction, Sensorineural hearing impairment, ... |
ORPHA:231169 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Nephrocalcinosis, Proteinuria, Lo... |
OMIM:613404 |
Pendred Syndrome |
|
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:274600 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Cryptorchidism, Multiflagellar spermatozoa |
OMIM:620103 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Lactic acidosis, Renal cyst, Increased serum lactate, Re... |
OMIM:614922 |
Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Postlingual sensorineural hearing impairment, Tinnitus, Vertigo |
OMIM:601369 |
Usher Syndrome Type 3 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Limb ataxia, Impai... |
ORPHA:251282 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Sensorineural hearing impairment, Proximal renal tubular acidosis, Lactic acidosis, Increased ser... |
OMIM:615824 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Nephrocalcinosis, Reduced renal cor... |
OMIM:208085 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Abnormal head movements, Ataxia, Athetosis, Dystonia |
ORPHA:382 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity |
ORPHA:436151 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
Vici Syndrome |
|
Sensorineural hearing impairment, Renal tubular acidosis, Cerebellar hypoplasia, Hypoplasia of th... |
ORPHA:1493 |
Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
Fraxe Intellectual Disability |
|
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent ear helix, Imp... |
ORPHA:100973 |
Bor Syndrome |
|
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Ex... |
ORPHA:107 |
Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Gracile Syndrome |
|
Renal Fanconi syndrome, Hearing impairment, Lactic acidosis |
ORPHA:53693 |
Hydroxykynureninuria |
|
Metabolic acidosis, Congenital sensorineural hearing impairment, Renal tubular acidosis |
ORPHA:79155 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... |
OMIM:113650 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Sensorineural hearing impairment, Glycosuria, Stage 5 chronic kidney disease, Bilateral sensorine... |
OMIM:268315 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Kearns-Sayre Syndrome |
|
Renal Fanconi syndrome, Sensorineural hearing impairment, Renal tubular acidosis, Lactic acidosis |
OMIM:530000 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Non-ob... |
ORPHA:399805 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Sensorineural hearing impairment, Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia... |
OMIM:146255 |
Leigh Syndrome |
|
3-Methylglutaconic aciduria, Macrotia, Sensorineural hearing impairment, Renal tubular acidosis, ... |
ORPHA:506 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Renal tubular acidosis, Lactic acidosis, Increased serum lactate, Hypospadias, Abnormal pinna mor... |
OMIM:615471 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Ataxia, Vertigo |
ORPHA:79136 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Otofaciocervical Syndrome 1 |
|
Cupped ear, Conductive hearing impairment, Mixed hearing impairment, Hypoplasia of the cochlea |
OMIM:166780 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Abnormal head movements |
OMIM:616939 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Sensorineural hearing impairment, Glycosuria, Hyperphosphaturia, Lactic acidosis, ... |
OMIM:220110 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Lactic acidosis, Bilateral sensorineural hearing im... |
ORPHA:436271 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... |
OMIM:611584 |
Fragile X Syndrome |
|
Recurrent hand flapping, Hyperactivity, Macrotia, Abnormal head movements |
OMIM:300624 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperchloremic acidosis, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabs... |
OMIM:604278 |
Warsaw Breakage Syndrome |
|
Cupped ear, Hearing impairment, Hypoplasia of the cochlea |
OMIM:613398 |
Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:604213 |
Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism |
ORPHA:356996 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Congenital sensorineural hearing impairment, Generalized aminoaciduria |
OMIM:606528 |
Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male infertility, Male pseudohermaphroditis... |
ORPHA:754 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Sensorineural hearing impairment, Hypocitraturia, Hypermagne... |
ORPHA:18 |
Leigh Syndrome With Cardiomyopathy |
|
Renal tubular acidosis, Renal dysplasia, Abnormal renal tubule morphology, Renal agenesis, Increa... |
ORPHA:70474 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Renal tubular acidosis, Recurrent otitis media, Chiari type I m... |
OMIM:619575 |
Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... |
ORPHA:87 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Late spermatogenesis maturation arrest |
OMIM:615842 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
Crouzon Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Chiari malformation, Cerebellar hy... |
ORPHA:207 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Proximal tubulopathy, Medullary nephrocalcinosis, High-frequency ... |
OMIM:619743 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Severe lactic acidosis,... |
ORPHA:255249 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Cochlear degeneration, Hearing impairment, Spinocerebellar atrophy |
ORPHA:95433 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Narrow internal auditory canal, Hypoplasia of penis, Low-se... |
ORPHA:990 |
Gorham-Stout Disease |
|
Chiari type I malformation, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Organic aciduria, Cerebellar atrophy, Renal tubular acidosis, Stress/infection-induced lactic aci... |
ORPHA:431361 |
Pyruvate Carboxylase Deficiency |
|
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis |
OMIM:266150 |
Otosclerosis 7 |
|
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hypogonadotropic hy... |
ORPHA:752 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Decreased female libido, Decreased testicular size, Oligomenorrhea, Azoosper... |
ORPHA:52901 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Recurrent hand flapping, Hand tremor, Dysphagia, Broad-based gait |
OMIM:617862 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity, Tremor, Abnormal pinna morphology |
OMIM:300983 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking |
OMIM:309548 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hyperchloremic metabolic acidosis, Distal renal tubular acidosis, Nephrocalcinosis, ... |
OMIM:611590 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
Distal Monosomy 10Q |
|
Patent ductus arteriosus, Vesicoureteral reflux, Enuresis, Cerebellar hypoplasia, Acute kidney in... |
ORPHA:96148 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Aplasia of the inner ear, Microtia, first degree, Anteverted ears, Profound sensorineural hearing... |
OMIM:610706 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Ne... |
ORPHA:2088 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Inability to walk, Stereotypical hand wringing, Choreoathetosis, D... |
OMIM:618497 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Low-set ears, Renal tubular acidosis |
OMIM:613457 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Acute kidney injury, Renal cell carcinoma, Renal ag... |
ORPHA:93111 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Choreoathetosis, Ataxia, Generalized dystonia, Dystonia, Jerky head movements |
OMIM:245348 |
Osteopetrosis With Renal Tubular Acidosis |
|
Macrotia, Conductive hearing impairment, Renal tubular acidosis, Metabolic acidosis, Distal renal... |
ORPHA:2785 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Christianson Syndrome |
|
Gait ataxia, Macrotia, Truncal ataxia, Abnormal repetitive mannerisms, Death in early adulthood, ... |
ORPHA:85278 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Bilateral sensorineural hearing impairment, Choreoathetosis, Ataxia, Tremor, Dystonia, Dysphagia,... |
OMIM:619422 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Focal dystonia, Tremor, Dysphagia, Jerky head movements |
ORPHA:240103 |
Huntington Disease-Like 1 |
|
Gait ataxia, Chorea, Abnormal head movements, Gait disturbance, Dysmetria, Restlessness, Jerky he... |
ORPHA:157941 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Tremor, Low-set ears, Bruxism |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia |
OMIM:300928 |
Hypomagnesemia 3, Renal |
|
Hypocitraturia, Hypercitraturia, Hypermagnesiuria, Recurrent urinary tract infections, Hematuria,... |
OMIM:248250 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Hearing impairment |
OMIM:248510 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Diabetic ketoacidosis... |
ORPHA:358 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Histidinuria, Macrotia, Sensorineural hearing impairment, Impaired histidine renal tubular absorp... |
ORPHA:2158 |
Histidinuria Due To A Renal Tubular Defect |
|
Histidinuria, Macrotia, Sensorineural hearing impairment, Impaired histidine renal tubular absorp... |
OMIM:235830 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Macrotia, Recurrent hand flapping, Gait disturbance, Ataxia, Abnormality of pain sensation, Tremo... |
ORPHA:544254 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Renal tubular acidosis |
OMIM:255120 |
Huntington Disease-Like 3 |
|
Chorea, Abnormal head movements, Progressive gait ataxia, Dystonia, Broad-based gait |
ORPHA:157946 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Nephrocalcinosis, Nephrolithiasis, Distal renal tubular acidosis |
OMIM:179800 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis |
ORPHA:156 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Falls, Ataxia, Dystonia, Bruxism |
OMIM:619150 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
Alagille Syndrome 1 |
|
Vesicoureteral reflux, Macrotia, Multiple small medullary renal cysts, Renal tubular acidosis, Re... |
OMIM:118450 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behavio... |
ORPHA:352490 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia |
OMIM:234500 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Dilated fourth ventricle, Cerebellar dysplasia, Sensorineural hearing i... |
OMIM:617751 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... |
OMIM:609136 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Tremor, Dystonia, Ataxia |
OMIM:615924 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebe... |
ORPHA:247815 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Metabolic ketoacidosis, Proteinuria, Renal Fanconi syndrome |
ORPHA:263455 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Primary amenorrhea, Abnormal vagina morphology, Abnormality ... |
ORPHA:251510 |
Foxg1 Syndrome |
|
Inability to walk, Stereotypical hand wringing, Choreoathetosis, Abnormal repetitive mannerisms, ... |
ORPHA:561854 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia, Sensorineural hearing impairment |
OMIM:616490 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Low-set ears, Recurrent hand flapping, Attention deficit hyperactivity disorder |
OMIM:620021 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai... |
ORPHA:648 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Myoglobinuria, Renal tubular acidosis, Lactic acidosis |
ORPHA:79240 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Male inferti... |
ORPHA:99429 |
Isotretinoin-Like Syndrome |
|
Anotia, Microtia, Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hearing impairment... |
ORPHA:2306 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte... |
ORPHA:1435 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Wide anterior fontanel, Glycosuria, Polycystic kidney... |
OMIM:231680 |
Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Dystonia, Broad-based ... |
ORPHA:248111 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Myoglobinuria, Renal tubular acidosis, Lactic acidosis |
ORPHA:264580 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Charge Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hy... |
ORPHA:138 |
Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Glomerulopathy, Abnormal renal tubule morphology, Hypercalciuria, Hematuria, Proxi... |
ORPHA:534 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Polycystic ovaries, Myoglobinuria, Renal tubular acidosis |
ORPHA:370 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Difficulty walking, Abnormal repetitive mannerisms, Waddling gait |
ORPHA:280763 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Renal hypoplasia, Vesicoureteral reflux, Sensorineural hearing impairment, Incomplete partition o... |
OMIM:617660 |
Ogden Syndrome |
|
Macrotia, Shuffling gait, Abnormal head movements, Torticollis, Low-set ears |
ORPHA:276432 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Cerebellar dysplasia, Sensorineural hearing impairment, Cerebellar hypo... |
ORPHA:500159 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Recurrent otitis media |
OMIM:301076 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Abnormal repetitive mannerisms, Disinhibition, Restlessness, Collectionism |
ORPHA:275864 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Sensorineural hearing impairment, Bruxism, Tremor, Attention deficit hyperactivity... |
OMIM:618342 |
Developmental And Epileptic Encephalopathy 67 |
|
Dystonia, Recurrent hand flapping, Athetosis, Gait disturbance |
OMIM:618141 |
Familial Hypoaldosteronism |
|
Decreased urinary potassium, Renal salt wasting, Proximal renal tubular acidosis, Metabolic acidosis |
ORPHA:427 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm |
OMIM:614874 |
47,Xyy Syndrome |
|
Macroorchidism, Azoospermia, Oligospermia, Hypospadias, Male infertility, Varicocele, Cryptorchid... |
ORPHA:8 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Macrotia, Stereotypical hand wringing, Gait disturbance, Ataxia, Abnormal pinna mo... |
OMIM:614104 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Hearing impairment, Broad-based gait |
ORPHA:457260 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Acidosis, Hyperchloremic metabolic acidosis, Abnorm... |
ORPHA:411629 |
Optic Atrophy 11 |
|
Gait apraxia, Macrotia, Hyperactivity, Ataxia, Dysmetria, Attention deficit hyperactivity disorde... |
OMIM:617302 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macrotia, Shuffling gait, Spastic gait, Resting tremor, Choreoathetosis, Ataxia, Tremor, Dystonia... |
OMIM:300055 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Abnormal repetitive mannerisms, Inability to walk, Large earlobe |
ORPHA:411986 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... |
OMIM:613807 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Hyperactivity, Inability to walk, Impaired pain sensation, Impulsivity, Dysp... |
ORPHA:500180 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Macrotia, Anteverted ears |
OMIM:615541 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Narrow internal auditory canal, Sen... |
ORPHA:794 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Aplasia of the inner ear, Sensorineural hearing impairment, Hearing impairment, Microtia |
ORPHA:90024 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Macrotia, Gait disturbance, Abnormal repetitive mannerisms |
ORPHA:457240 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Metabolic acidosis, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphaturia,... |
OMIM:219800 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Cln5 Disease |
|
Hyperactivity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Dysmetria, Tremor, ... |
ORPHA:228360 |
4Q21 Microdeletion Syndrome |
|
Low-set ears, Tremor, Hearing impairment, Abnormal repetitive mannerisms |
ORPHA:238750 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Proximal renal tubu... |
OMIM:229600 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis |
OMIM:616457 |
48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Tremor, Attention deficit hyperactivity disorder, Chronic... |
ORPHA:10 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Macrotia, Prominent crus of helix, Attention deficit hyperactivity disorder, Abnor... |
OMIM:301013 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Hypomagnesemia 6, Renal |
|
Impaired renal tubular reabsorption of magnesium, Vertigo |
OMIM:613882 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Jeavons Syndrome |
|
Abnormal head movements |
ORPHA:139431 |
22Q11.2 Duplication Syndrome |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit hyperactivity disorder, A... |
ORPHA:1727 |
Childhood Absence Epilepsy |
|
Punding, Attention deficit hyperactivity disorder, Jerky head movements |
ORPHA:64280 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, H... |
ORPHA:401777 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Polyphagia, Ataxia, Abnormal repetitive mannerisms |
ORPHA:228402 |
Alazami Syndrome |
|
Low-set ears, Stereotypical hand wringing, Abnormal repetitive mannerisms, Abnormal eating behavior |
ORPHA:319671 |
Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Polyuria, Hearing impairment |
OMIM:560000 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Hyperactivity, Impulsivity |
OMIM:300143 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased fertility, Irregular menstruation, Precocious puberty in females, Bifid scrotum, Bilate... |
ORPHA:90793 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Gait ataxia, Inability to walk, Recurrent hand flapping, Choreoathetosis, Ataxia, Impulsivity, At... |
OMIM:619580 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Truncal ataxia, Recurrent hand flapping, Limb ataxia, Broad-based gait, Low-set ears, Cupped ear,... |
OMIM:617101 |
Pearson Marrow-Pancreas Syndrome |
|
Lactic acidosis, Complex organic aciduria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Hyp... |
OMIM:557000 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Recurrent hand flapping, Hyperactivity |
OMIM:615516 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Choreoathetosis, Abnormal repeti... |
ORPHA:261197 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms |
ORPHA:530983 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Abnormal repetitive mannerisms |
ORPHA:3306 |
Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Vesicoureteral reflux, Conductive hearing impairment, Enlarged ves... |
OMIM:157800 |
Rett Syndrome |
|
Inability to walk, Stereotypical hand wringing, Gait disturbance, Agitation, Abnormal repetitive ... |
ORPHA:778 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Macrotia, Recurrent hand flapping, Recurrent otitis media, Abnormal repetitive man... |
ORPHA:449291 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Female pseudohermaphroditism, Female in... |
ORPHA:91 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Hypoplastic helices, Abnormality of the ear, Repetitive compulsive behavior, Recurrent otitis med... |
ORPHA:391372 |
Tyrosinemia, Type I |
|
Enlarged kidney, Glomerular sclerosis, Nephrocalcinosis, Renal insufficiency, Renal Fanconi syndr... |
OMIM:276700 |
Oromandibular Dystonia |
|
Blepharospasm, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Dysphagia, Gener... |
ORPHA:93958 |
Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Dystonia, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Pica, Tics, Ataxia, Tongue thrusting, Stereotypical body rocking, Unsteady gait, B... |
OMIM:617865 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Chorea, Macrotia, Inability to walk, Repetitive compulsive behavior, Ataxia, Pain insensitivity, ... |
OMIM:300260 |
Duane Retraction Syndrome |
|
Narrow internal auditory canal, Sensorineural hearing impairment, Ectopic kidney, External ear ma... |
ORPHA:233 |
Schinzel-Giedion Syndrome |
|
Nephroblastoma, Infantile sensorineural hearing impairment, Hydronephrosis, Low-set ears, Wide an... |
ORPHA:798 |
3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Abnormal repetitive mannerisms, Ataxia, Abnormality of the oute... |
ORPHA:435638 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Recurrent hand flapping, Gait disturbance, Agitation, Dystonia, Bruxism |
OMIM:617903 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Stage 5 chronic kidney disease, Hyperphosphaturia, Proximal renal tubular acidosis... |
OMIM:309000 |
Charge Syndrome |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Microtia, Aplasia of the semicircular... |
OMIM:214800 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Hyperactivity, Progressive hearing impairment, Gait disturbance, Att... |
ORPHA:43 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Ovot... |
ORPHA:1772 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Gait imbalance, Recurrent hand flapping, Ataxia, Tremor, Tongue thrusting, Abnorma... |
ORPHA:98794 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Impaired vibratory sensation, Hyperactivity, Sensorineural hearing impairment |
OMIM:609727 |
Transketolase Deficiency |
|
Attention deficit hyperactivity disorder, Hearing impairment, Abnormal repetitive mannerisms, Com... |
ORPHA:488618 |
Tick-Borne Encephalitis |
|
Vertigo, Abnormality of the vestibular nerve, Tinnitus, Hearing impairment, Abnormal medulla oblo... |
ORPHA:297 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Abnormal repetitive mannerisms, Obses... |
ORPHA:168491 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Gait disturbance, Abnormal repetitive mannerisms, Impaired pain se... |
ORPHA:819 |
New-Onset Refractory Status Epilepticus |
|
Abnormal head movements |
ORPHA:363558 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Beta 2-microglobulinuria, Renal tubular epithelial n... |
ORPHA:91500 |
Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididymal cyst, Hypospadias, Hy... |
OMIM:137920 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Agitation, Abnormal repetitive mannerisms, Ataxia |
ORPHA:927 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:79264 |
Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis |
OMIM:259730 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Sensorineural hearing impairment, Inability to walk, Torticollis, Abnormal repeti... |
ORPHA:300570 |
Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Abnormal repetitive mannerisms |
ORPHA:397612 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Protruding ear |
ORPHA:2479 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hypokalemic hypochloremic metabolic alkalosis, Sensorineura... |
OMIM:602522 |
16P11.2P12.2 Microdeletion Syndrome |
|
Hyperactivity, Tics, Impaired pain sensation, Hearing impairment, Abnormal pinna morphology, Low-... |
ORPHA:261211 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... |
OMIM:134600 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder |
OMIM:617600 |
Sandifer Syndrome |
|
Torticollis, Abnormal head movements |
ORPHA:71272 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:313892 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Conductive hearing impairment, Narrow internal auditory canal, Microtia... |
ORPHA:861 |
Lead Poisoning |
|
Decreased female libido, Infertility, Abnormality of the menstrual cycle, Reduced sperm motility,... |
ORPHA:330015 |
Brain-Lung-Thyroid Syndrome |
|
Chorea, Hyperactivity, Sensorineural hearing impairment, Falls, Choreoathetosis, Ataxia, Compulsi... |
ORPHA:209905 |
2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Attention deficit hyperactivity disorder, Abnormal repetitive mann... |
ORPHA:1001 |
Dilated Cardiomyopathy With Ataxia |
|
Repetitive compulsive behavior, Ataxia, Action tremor, Bilateral sensorineural hearing impairment... |
ORPHA:66634 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:98784 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Acute kidney injury, Hemoglobinuria, Glycosuria, Proteinuria, Hemosiderinuria, Renal insufficienc... |
ORPHA:447 |
Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Hyperc... |
ORPHA:89938 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Macrotia, Abnormal repetitive mannerisms, Ataxia, Dysphagia, Dystonia |
ORPHA:496641 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Dysmetria, Difficulty walking, Dyspha... |
ORPHA:139396 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Sensorineural hearing impairment |
OMIM:608747 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb dystonia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Inability to walk |
ORPHA:457351 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Hyperactivity, Dysdiadochokinesis, Dysmetria, Impulsivity, Dysphagia, Dyston... |
OMIM:610217 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Hearing impa... |
ORPHA:99885 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Abnormal repetitive mannerisms, Large earlobe, Dysmetria, Chronic o... |
ORPHA:96121 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Abnormal repetitive mannerisms, Compulsive behaviors, Tremor, Attention deficit hype... |
ORPHA:476126 |
Cystinosis |
|
Abnormal repetitive mannerisms, Gait disturbance, Polydipsia |
ORPHA:213 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Hyperactivity, Ataxia, Athetosis, Dystonia |
ORPHA:52503 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility |
ORPHA:85450 |
5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:228384 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Unsteady gait, Ataxia, Abnormal repetitive mannerisms |
ORPHA:457279 |
Norrie Disease |
|
Aplasia/Hypoplasia of the cerebellum, Macrotia, Sensorineural hearing impairment, Abnormal helix ... |
ORPHA:649 |
Floating-Harbor Syndrome |
|
Conductive hearing impairment, Congenital posterior urethral valve, Stage 5 chronic kidney diseas... |
ORPHA:2044 |
White-Sutton Syndrome |
|
Hyperactivity, Sensorineural hearing impairment, Abnormal repetitive mannerisms, Compulsive behav... |
ORPHA:468678 |
Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
OMIM:193300 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Ataxia |
ORPHA:760 |
Andersen-Tawil Syndrome |
|
Renal hypoplasia, Low-set ears, Renal tubular dysfunction |
ORPHA:37553 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Hyperphosphaturia, Ovarian cyst, Hearing impairment, Renal tubular dysfu... |
ORPHA:562 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low-set ears, Jerky head movements, Hearing impairment |
ORPHA:369837 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Blepharospasm, Akinesia, Choreoathetosis, Gait disturbance, Ataxia, Tremor, Dyspha... |
OMIM:234200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cerebellar dysplasia, Renal dysplasia, Microtia, Cerebellar hypoplasia, Cerebellar malformation, ... |
OMIM:236670 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Low-set ears, Protruding ear |
ORPHA:447997 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Disinhibition, Repetitive compulsive behavior, Polyphagia, Agitation |
OMIM:607485 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism |
OMIM:227650 |
Kleefstra Syndrome |
|
Abnormal repetitive mannerisms, Chronic otitis media, Hearing impairment, Thickened helices |
ORPHA:261494 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Chorea, Choreoathetosis, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Ataxia, ... |
ORPHA:522077 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Repetitive compulsive behavior, Bilateral sensorineural hearing impairment, Cupped ear, Isometric... |
OMIM:619475 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Hyperphosphaturia, Acidosis, Generalized aminoaciduria, Chronic acidosis, Renal tubul... |
OMIM:227810 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
Wiedemann-Steiner Syndrome |
|
Low-set ears, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia |
ORPHA:319182 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Macrotia, Gait disturbance, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:464306 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gait ataxia, Repetitive compulsive behavior, Recurrent otitis media, Abnormal repetitive manneris... |
ORPHA:513456 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Gait disturbance, Protr... |
ORPHA:464311 |
Choreoacanthocytosis |
|
Chorea, Hyperactivity, Blepharospasm, Head-banging, Falls, Resting tremor, Lingual dystonia, Limb... |
ORPHA:2388 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Gait ataxia, Hyperactivity, Protruding ear, Hand tremor, Ataxia, Dysmetria, Posteriorly rotated e... |
OMIM:614756 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Nephropathy, Enuresis, Renal tubular dysfunction |
ORPHA:69076 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Otosclerosis, Abn... |
ORPHA:580 |
Proteus Syndrome |
|
Macrotia, Narrow internal auditory canal, Enlarged polycystic ovaries, Long penis, Renal cyst, Lo... |
ORPHA:744 |
Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
Prader-Willi Syndrome Due To Translocation |
|
Attention deficit hyperactivity disorder, Head-banging, Abnormal repetitive mannerisms, Compulsiv... |
ORPHA:177907 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Abnormal repetitive mannerisms, Opisthotonus, Inability to walk |
ORPHA:508533 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Thin ear helix, Abnormal repetitive mannerisms, Bilateral sens... |
ORPHA:468631 |
Floating-Harbor Syndrome |
|
Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele, Cryptorchidism, Gl... |
OMIM:136140 |
Nmda Receptor Encephalitis |
|
Chorea, Oculogyric crisis, Choreoathetosis, Abnormal repetitive mannerisms, Agitation, Opisthoton... |
ORPHA:217253 |
1P36 Deletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Gait disturbance, Abno... |
ORPHA:1606 |
Bloom Syndrome |
|
Premature ovarian insufficiency, Oligospermia, Male infertility, Azoospermia |
ORPHA:125 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetiti... |
ORPHA:353281 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hearing impairment, Abnormal repetitive mannerisms |
ORPHA:508498 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia |
ORPHA:228123 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetiti... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal repetiti... |
ORPHA:353277 |
Noonan Syndrome 1 |
|
Hypospadias, Male infertility, Hypogonadism, Cryptorchidism |
OMIM:163950 |
Tuberous Sclerosis Complex |
|
Impulsivity, Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
ORPHA:805 |
Mowat-Wilson Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Inability to walk, Bruxism, Recu... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Sensorineural hearing impairment, Inability to walk, Bruxism, Recurrent otitis media, Abnormal re... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Sensorineural hearing impairment, Inability to walk, Bruxism, Recurrent otitis media, Abnormal re... |
ORPHA:261552 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |