| 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 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| 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 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration, Decreased body weight |
OMIM:616311 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior |
OMIM:617270 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Corneal dystrophy, Optic atrophy, Developmental cataract, Gait disturbance |
ORPHA:2572 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Ataxia, Cryptor... |
ORPHA:3363 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spastic Ataxia 7, Autosomal Dominant |
|
Spastic ataxia, Dysdiadochokinesis, Optic atrophy |
OMIM:108650 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Gait disturbance, Loss of amb... |
OMIM:615043 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to ... |
OMIM:275400 |
| Morm Syndrome |
|
Hyperactivity, Cataract, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity |
ORPHA:75858 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Obesity, Hypogonadism, Recurrent otitis media, Rod-cone dystrophy, R... |
OMIM:615993 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| 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 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... |
OMIM:274600 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Loss of ambulation, Rod-cone dystrophy, Optic atrophy, Ataxia |
OMIM:609055 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Hearin... |
OMIM:274300 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal vestibular function, Abnormal sperm tail morphology, Abnormal spermato... |
OMIM:611102 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| 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 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia, Retinal degeneration |
OMIM:614322 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| 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 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Failure to thrive, Retinal degeneration |
OMIM:238340 |
| X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l... |
OMIM:204500 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment, Rod-cone dystrophy, Retinitis pigmentosa inversa, External geni... |
OMIM:268010 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Enlarged vestibula... |
OMIM:600791 |
| Pendred Syndrome |
|
Hyperparathyroidism, Ataxia, Sensorineural hearing impairment, Abnormality of the inner ear, Vert... |
ORPHA:705 |
| Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity, Cataract |
OMIM:615995 |
| 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 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
| Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Abnormal head movements, Hyperactivity, Periventricular heterotopia... |
OMIM:300624 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... |
OMIM:204200 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, Abnormal mito... |
OMIM:300438 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
| Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
| Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy, Claw hand deformity |
OMIM:618511 |
| Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal d... |
OMIM:615982 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular ... |
OMIM:256730 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ataxia, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy, Ataxia |
OMIM:614706 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, Optic atrophy, Gait ataxia, Inappropriate laughter, Flexion contracture ... |
OMIM:619323 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Optic atrophy |
OMIM:618572 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Azoospermia, Hypertens... |
OMIM:615703 |
| Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Failure to thrive, Optic atrophy, Dysphagia |
OMIM:271930 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Retinal dystrophy, Secondary amenorrhea, Goiter |
OMIM:617175 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Loss of ambulation, Optic atrophy |
OMIM:615658 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology, Increased neuronal autofluorescent lipopigment, Retina... |
OMIM:601780 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vertigo, Unsteady gait, Pigmentar... |
OMIM:520000 |
| Autosomal Recessive Spastic Paraplegia Type 45 |
|
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Flexion contracture of toe, S... |
ORPHA:320396 |
| Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Decreased testicular size, Broad-based gait, Ataxia, Corpus callosum atrophy,... |
ORPHA:320391 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Ravine Syndrome |
|
Decreased body weight, Ataxia, Anorexia, Abnormal auditory evoked potentials, Atrophy/Degeneratio... |
ORPHA:99852 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Dysmetria, Abnormal n... |
OMIM:256731 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Increased circulating free T3, Attention deficit hyp... |
OMIM:188570 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Elbow flexion contracture, A... |
OMIM:619470 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Unsteady gait, Optic atrophy, Cataract |
OMIM:620312 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Diabetes mellitus, Ataxia, Cryptorchidism, Sensorineural hearing impairm... |
OMIM:249270 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Dilated cardiomyopathy, Obesity, Hypogonadism, Ro... |
OMIM:615981 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
| Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m... |
OMIM:602271 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Failure to thrive, Hyperactivity, H... |
ORPHA:209905 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
| Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Truncal ataxia, Attenuation of retinal blood vessels |
OMIM:614504 |
| Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... |
OMIM:613801 |
| Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Merrf |
|
Multiple lipomas, Optic atrophy, Ataxia |
ORPHA:551 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Hearing impairment, Congenital hypothyroidism |
OMIM:228355 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract, Small for gestational age |
ORPHA:85288 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Cerebellar atrophy, Retinal atrophy, Corpus callosum atrophy, Parietal cortical atrophy, Unsteady... |
ORPHA:412057 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal vibration sensation, Im... |
OMIM:604360 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Posteriorly rotated ears, Aggressive behavior, Macrotia... |
OMIM:609425 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behav... |
ORPHA:382 |
| N-Acetylaspartate Deficiency |
|
Abnormal repetitive mannerisms, Self-mutilation |
OMIM:614063 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... |
OMIM:600059 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Inguinal hernia, Cataract, Small for gestational age, Reduced bone mineral density... |
OMIM:618392 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Impaired proprioception, Impaired vibration sensation in the lower limbs, Limb at... |
ORPHA:251282 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
| Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Hypothyroidism, Hearing impairment, Goiter |
OMIM:617577 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617862 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Ataxia, Goiter |
OMIM:274240 |
| Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
| Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Se... |
ORPHA:95716 |
| Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio |
OMIM:617272 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... |
OMIM:613670 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Abnormal head movements, Restlessness, Chorea, Dysmetria, Weight loss, Gait a... |
ORPHA:157941 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
| Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Euthyroid goiter, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy, Ataxia |
OMIM:610951 |
| Alg6-Cdg |
|
Failure to thrive, Ataxia, Puberty and gonadal disorders, Increased circulating androgen concentr... |
ORPHA:79320 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ataxia |
ORPHA:2246 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:71518 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms, Jerky head movements |
ORPHA:98807 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Hearing impairment, Thyroiditis, Angioid streaks of the fundus, Hydrocele testis... |
OMIM:615108 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Ataxia, Optic atrophy, Dysphagia, Sensory axonal neuropathy |
ORPHA:329314 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Peripheral axonal neuropathy, Ataxia, Inability to walk, Retinal pigment epith... |
OMIM:619389 |
| Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Heterochromia iridis, Abnormality of the middle... |
ORPHA:90646 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration, Distal sensory impairment |
OMIM:619764 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm |
OMIM:616534 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Impulsivity, Unsteady gait, Optic atrophy, Cerebral atrophy, Hypsarrhythmia, EEG with mul... |
ORPHA:442835 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... |
OMIM:601382 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Hearing impairment, Thyroiditis, Angioid streaks of the fundus, Hydrocele testis... |
OMIM:615109 |
| Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia, Cerulean cataract |
OMIM:616732 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615282 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Eye poking, Att... |
OMIM:204000 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Optic atrophy, Ataxia, Aggressive behavior |
OMIM:300983 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| Bangstad Syndrome |
|
Small for gestational age, Insulin-resistant diabetes mellitus, Progressive cerebellar ataxia, Pr... |
OMIM:210740 |
| Nescav Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Inability to walk, Flexion contracture, Optic atrophy |
OMIM:614255 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Cryptorchidism, Chorea, Inability to walk, Cerebral atrophy, Gait ataxia, Sel... |
OMIM:618917 |
| Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Jeavons Syndrome |
|
Abnormal head movements, EEG with spike-wave complexes, EEG with generalized polyspikes, EEG with... |
ORPHA:139431 |
| Spinocerebellar Ataxia 7 |
|
Chorea, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinopathy, Progressive cereb... |
OMIM:164500 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Interictal EEG abnormality, Tachycardia, Cerebral atrophy,... |
ORPHA:79264 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Truncal ataxia |
OMIM:611726 |
| Exudative Vitreoretinopathy 4 |
|
Osteopenia, Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreor... |
OMIM:601813 |
| Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
| Macular Degeneration, Age-Related, 3 |
|
Choroidal neovascularization, Drusen, Decreased nerve conduction velocity, Distal sensory impairm... |
OMIM:608895 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| 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 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
| Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy, Ataxia |
ORPHA:1186 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, EEG with spike-wave complexes, Aggressive behavior, Co... |
ORPHA:168491 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Typ... |
ORPHA:247815 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic gait, Optic atrophy, Severe temper tantrums |
OMIM:619052 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral ... |
ORPHA:391428 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Ataxia, Osteoporosis, Increased bone density with cysti... |
OMIM:136300 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Orbital craniosynostosis |
ORPHA:1538 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
| Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Small for gestationa... |
OMIM:609152 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy, Ataxia, Dysphagia |
ORPHA:1171 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Abnormal repetitive mannerisms, Disinhibition, Dysphagia |
OMIM:612069 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Hypergastrinemia, Retinal degeneration |
OMIM:252650 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... |
OMIM:616108 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... |
OMIM:300476 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
| Camos Syndrome |
|
Optic atrophy, Ataxia |
ORPHA:83472 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Flexion contracture, Optic atrophy, Spastic gait |
OMIM:613162 |
| Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Pseudobulbar paralysis, Failure to thrive, Attenuation of retinal blood vessels |
OMIM:617082 |
| Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Impulsivity, Optic atrophy, Gait disturbance, Compulsive behaviors, Dysphagia, Violent behavior, ... |
ORPHA:216873 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Increased skull ossification, Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy |
OMIM:619690 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Failure to thrive, Optic atrophy |
OMIM:274270 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Macular atrophy, Abnormal audito... |
OMIM:619260 |
| Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy, Dysphagia, Gait ataxia |
OMIM:620221 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Hearing impairment, Thyroiditis, Angioid streaks of the fundus, Hydrocele testis... |
OMIM:158350 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Impaired pain sensation, Abnormality of the thyroid gland, Abn... |
OMIM:182290 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Ataxia, Abnormality of bone min... |
ORPHA:3156 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
| Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
| Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617820 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Cataract, Retinal dystrophy, Childhood-onset truncal obesity |
OMIM:610156 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... |
OMIM:311070 |
| Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects |
|
Restlessness, Small for gestational age, Aggressive behavior, Optic atrophy, Exudative vitreoreti... |
OMIM:615075 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor... |
OMIM:152950 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Inability to ... |
ORPHA:52368 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyr... |
ORPHA:525731 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning, Ataxia |
OMIM:618970 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Myocardial infarction, Overweight, Self-mu... |
ORPHA:457240 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive |
OMIM:269840 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Bruxism, Self-injurious behavior, EEG abnormality, Brain atroph... |
OMIM:618718 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Polydi... |
OMIM:615986 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... |
ORPHA:424 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
| Lead Poisoning |
|
Abnormal sperm morphology, Decreased female libido, Small for gestational age, Somatic sensory dy... |
ORPHA:330015 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo, Ataxia |
ORPHA:79136 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... |
ORPHA:98890 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Optic atrophy, Facial palsy, Craniosynostosis |
ORPHA:178377 |
| Ogden Syndrome |
|
Abnormal head movements, Cryptorchidism, Cerebral atrophy, Shuffling gait, Low-set ears, Cardioge... |
ORPHA:276432 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Ataxia, Retinal telangiectasia |
ORPHA:104 |
| Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Optic disc pallor, Optic atrophy, Dysphagia |
OMIM:617086 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rod-... |
OMIM:610127 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Small for gestational age, Cryptorchidism, Repetitive compulsive behavior, Compuls... |
ORPHA:352490 |
| Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Abnormal repetitive man... |
OMIM:600795 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... |
ORPHA:275864 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... |
OMIM:177650 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Inability to walk, Simplified gyral pattern, Hypsarrhythmia, Macrotia, Abnorm... |
OMIM:619877 |
| Hartnup Disorder |
|
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Optic at... |
OMIM:122860 |
| Behr Syndrome |
|
Ataxia, Achilles tendon contracture, Unsteady gait, Optic atrophy, Hypoplastic optic chiasm, Dysm... |
OMIM:210000 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy... |
OMIM:612674 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract |
ORPHA:35737 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Optic atrophy, Abnormal ... |
ORPHA:3152 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Micro... |
OMIM:615994 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Inability to walk, Optic atrophy |
OMIM:618768 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Decreased body weight, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious b... |
OMIM:617695 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Ataxia |
ORPHA:85297 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Spastic Paraplegia 2, X-Linked |
|
Flexion contracture, Optic atrophy, Dysmetria, Loss of ambulation, Spastic gait |
OMIM:312920 |
| Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hypergonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:203800 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Palpitations, Goiter |
OMIM:188580 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
| Glutaric Aciduria Iii |
|
Hypertension, Failure to thrive, Hyperthyroidism, Goiter |
OMIM:231690 |
| Leber Congenital Amaurosis 14 |
|
Falls, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Micropenis, Retinal... |
OMIM:209900 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Myopic astigmatism, Development... |
OMIM:620141 |
| Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Attention deficit hyperactivity disord... |
OMIM:261600 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Failure to thrive in infancy, Small for gestational age... |
OMIM:614104 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing i... |
ORPHA:320401 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy, Osteoporosis |
ORPHA:2787 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Iris hypopigmentation, Aggressive behavior, Cachexia, Ab... |
ORPHA:97229 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Retinal detachment, Absent vertebral body mineralization, Catarac... |
ORPHA:93296 |
| Foxg1 Syndrome |
|
Optic disc hypoplasia, Inability to walk, Bruxism, Choreoathetosis, Difficulty walking, Decreased... |
ORPHA:561854 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Difficulty walking, Optic atrophy, Ataxia |
OMIM:619425 |
| 48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Cryptorchidism, Obesity, Azoospermia... |
ORPHA:10 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... |
OMIM:609033 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... |
OMIM:239100 |
| Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:3151 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
| Leukoencephalopathy With Vanishing White Matter 4 |
|
Unsteady gait, Optic atrophy |
OMIM:620314 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Failure to thrive, Abnormal repetitive mannerisms, Cerebral atrophy |
OMIM:617393 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Impaired proprioception, Dysmetria, Gait ataxia, Ataxia, Impaired distal vibration sensation, Gai... |
ORPHA:99027 |
| New-Onset Refractory Status Epilepticus |
|
Interictal EEG abnormality, Abnormal head movements, Multifocal epileptiform discharges, EEG with... |
ORPHA:363558 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyr... |
ORPHA:83601 |
| Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
| Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Hypothyroidism, Sensorineural hearing imp... |
OMIM:600430 |
| Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
| Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Impaired vibration sensation in the lower limbs, Optic atrophy, Gait... |
ORPHA:95433 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
| Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Inability to walk, Weight loss, Pigmentary retinopathy, Tip-toe gait, Gait dis... |
ORPHA:216866 |
| Peroxisome Biogenesis Disorder 8B |
|
Cataract, Retinal dystrophy, Ataxia, Unsteady gait, Optic atrophy, Dysmetria, Gait ataxia, Tip-to... |
OMIM:614877 |
| Christianson Syndrome |
|
Cerebellar atrophy, Cachexia, Truncal ataxia, Gait ataxia, Neuronal loss in central nervous syste... |
ORPHA:85278 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Weight loss, Pheochromocytoma, Elevated circulating calci... |
ORPHA:1332 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Asymmetry of the ears, Bilateral cryptorchidism, Crypto... |
OMIM:617796 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Developmental And Epileptic Encephalopathy 28 |
|
Cerebral atrophy, Optic atrophy, Simplified gyral pattern, Retinal degeneration |
OMIM:616211 |
| Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Posteriorly rotated ears, Thyroid agenesis, Cryptorchidism, Abnormal antiheli... |
ORPHA:3047 |
| Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
| Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Infertility, Immotile sperm |
OMIM:618449 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy, Ataxia |
OMIM:617207 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... |
ORPHA:3306 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
| Infantile Cerebellar-Retinal Degeneration |
|
Retinal dystrophy, Ataxia, Optic atrophy, Athetosis, Decreased body weight, Failure to thrive |
OMIM:614559 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Limb ataxia, Gait ataxia |
OMIM:613672 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
| Usher Syndrome Type 1 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... |
ORPHA:231169 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Diabetes mellitus, Hyperthyroidism, Facial palsy, Hearing impairment, Ataxia,... |
ORPHA:254892 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Cryptorchidism, Macrotia, Heart murmur, Low-set ears, Rod-co... |
ORPHA:166035 |
| Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Congestive heart failure, Sensorineural hearing impairment, ... |
OMIM:266500 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Restless legs, Somatic sensory... |
ORPHA:101085 |
| Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
| Baker-Gordon Syndrome |
|
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, EEG abnormality, Abnormal re... |
OMIM:618218 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor, Ataxia, Flexion contracture, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trunc... |
OMIM:616204 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Chorioretinal degeneration, Gait ataxia, C... |
ORPHA:1435 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris... |
OMIM:610883 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Micropenis, Macrotia, Abnormal repetiti... |
OMIM:618504 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Cri-Du-Chat Syndrome |
|
Overfriendliness, Hyperactivity, Abnormal pinna morphology, Small for gestational age, Hypospadia... |
OMIM:123450 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
| Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut... |
OMIM:615516 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
| Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy, Cataract |
OMIM:614284 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res... |
OMIM:146510 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Hypospadias, Ataxia, Cryptorchidism, Repetitive compulsive behavior, Chorea, ... |
OMIM:300260 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, Ataxia |
OMIM:258501 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia, Iris hypopi... |
ORPHA:411515 |
| Spinocerebellar Ataxia 13 |
|
Optic atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Limb dysmetria |
OMIM:605259 |
| Leber Optic Atrophy And Dystonia |
|
Athetosis, Optic atrophy, Leber optic atrophy, Dysphagia |
OMIM:500001 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Huntington Disease-Like 3 |
|
Abnormal head movements, Caudate atrophy, Broad-based gait, Chorea, Progressive gait ataxia, Cere... |
ORPHA:157946 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Overweight, Repetitive compulsive behavior, Abnormality of the ear, EEG abnorm... |
ORPHA:391372 |
| Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
| Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Decreased response to growth hormone stimulation test, Abnormal repetitive ma... |
OMIM:618347 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
| Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia |
OMIM:617810 |
| Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma... |
ORPHA:2334 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Optic atrophy, Dysmetria, Failure to thrive |
OMIM:617954 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Cataract, Camptodactyly of finger, Flexion contracture, Optic atrophy, Gait disturbance, Retinal ... |
ORPHA:272 |
| Oculorenocerebellar Syndrome |
|
Choreoathetosis, Retinal degeneration |
OMIM:257970 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Brain atrophy, Low-set ears, ... |
OMIM:619092 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
| Usher Syndrome Type 3 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction, I... |
ORPHA:231183 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Failure to thrive, Optic atrophy, Aggressive behavior |
ORPHA:369939 |
| X-Linked Intellectual Disability, Najm Type |
|
Cataract, Optic nerve hypoplasia, Optic atrophy, Gait disturbance, Chorioretinal coloboma, Failur... |
ORPHA:163937 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Failure to thrive, Optic atrophy, Ataxia |
OMIM:619310 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy |
ORPHA:404451 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Macrotia, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive manne... |
DECIPHER:45 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, ... |
ORPHA:228402 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Sensorineural hearing impairment, Bruxism, Protruding ear, Br... |
OMIM:618342 |
| Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance, Agitation, Attenuati... |
OMIM:617166 |
| Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Unsteady gait, Cerebral atrophy, Dysphagia, Agitation, Bruxi... |
OMIM:617435 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Obesity, Cataract |
OMIM:601794 |
| Cln3 Disease |
|
Cataract, Ataxia, Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Pigmentary retinopa... |
ORPHA:228346 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... |
OMIM:301029 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Premature thelarche, Atrioventricular block, Polycystic ovaries, Hypertension, Type ... |
ORPHA:371428 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Failure to thrive in infancy, Impaired pain sensation, Precocious puberty, Ab... |
ORPHA:819 |
| Spastic Paraplegia Type 7 |
|
Optic disc pallor, Optic atrophy, Attention deficit hyperactivity disorder, Dysphagia, Spastic gait |
ORPHA:99013 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogo... |
ORPHA:91351 |
| 3-Methylglutaconic Aciduria Type 9 |
|
Failure to thrive, Optic atrophy, Slender build, Aggressive behavior |
ORPHA:505216 |
| Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Reduced sperm motility, Hearing impairment |
OMIM:619436 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Waddling gait, Overweight, Difficulty walking, Abnormal repetitive mannerisms... |
ORPHA:280763 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormal autono... |
OMIM:610743 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, Optic disc pallor, Astigmatism, Flexion contracture |
OMIM:619328 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, Ab... |
ORPHA:457205 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Retinal coloboma, Obesity, Cataract |
ORPHA:363741 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Repetitive compulsi... |
ORPHA:66634 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Dysmetria, Gait ataxia, Choreoathetosis, Shuffling gait, Fai... |
OMIM:617964 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Retinal degeneration |
OMIM:616896 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
| 3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Optic atrophy, Athetosis, Failure to thrive, Self-mutilation |
OMIM:250950 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Jerky head movements, Dysphagia |
ORPHA:240103 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Congenital sens... |
ORPHA:500159 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Optic atrophy, Obesity |
OMIM:614651 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Head titubation, Retinal atrophy, Retinal dystrophy, Ataxia |
ORPHA:370022 |
| 4H Leukodystrophy |
|
Cataract, Ataxia, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Dysphagia |
ORPHA:289494 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature |
OMIM:618160 |
| Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Limb ataxia, Dysmetria, Tortuosity of conjunctival vessels, Macular degeneration, Progr... |
ORPHA:284289 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Osteopenia, Optic disc pallor |
OMIM:619446 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| Rett Syndrome |
|
Inability to walk, EEG abnormality, Agitation, Abnormal autonomic nervous system physiology, Incr... |
ORPHA:778 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Inability to walk, Multifocal epileptiform discharges, Hypsarrhythmia, Large... |
ORPHA:411986 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Ataxia, Cryptorchidism, Optic atrophy, Pi... |
ORPHA:90321 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Bull's eye maculopathy, Impulsivity, Optic atrophy, Choreoathetosis, Pigme... |
ORPHA:157850 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Abnormal repetitive manne... |
ORPHA:449291 |
| Narp Syndrome |
|
Optic disc pallor, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Pr... |
ORPHA:644 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
| Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c... |
OMIM:171400 |
| Intermediate Uveitis |
|
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... |
ORPHA:279914 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
| Cystinosis |
|
Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroidism, Abnormal repetitive manneris... |
ORPHA:213 |
| Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
| Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
| 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 |
| Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Obesity, Macular degeneration, Hypogonadism, Rod-cone dystrophy |
OMIM:616629 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Inability to walk, Joint contracture, Cataract, Optic atrophy |
OMIM:617481 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy, Reduced sperm motility |
OMIM:615434 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Multiple joint contractures, Dys... |
ORPHA:363429 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rickets, Rod... |
OMIM:268315 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Cataract, Vaginal hernia |
ORPHA:3173 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Joubert Syndrome 6 |
|
Ataxia, Bile duct proliferation, Chorioretinal coloboma, Abnormal repetitive mannerisms, Retinal ... |
OMIM:610688 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Follicular thyroid carcinoma, Hearing i... |
ORPHA:201 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic gait, Cataract, Optic atrophy, Limb dysmetria |
OMIM:270800 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Aggressive behavior, Optic atrophy, Dysphagia |
OMIM:614707 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Microphallus, Micropenis, Macrotia, Ab... |
OMIM:300486 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Diabetes mellitus, Posteriorly rotated ears, Small for gestational age, Oligozoosp... |
OMIM:614813 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... |
OMIM:617302 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Multifocal epileptiform discharges, EEG with spike-wave comple... |
OMIM:619317 |
| Infantile Refsum Disease |
|
Failure to thrive, Cataract, Ataxia, Facial palsy, Optic atrophy, Rod-cone dystrophy |
ORPHA:772 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia |
ORPHA:99014 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Chorea, Athetosis, Dysphagia, Micropeni... |
OMIM:619435 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Iris coloboma, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Ataxia, Overweight, Atrophy of the spinal cord, Inability to walk, Obesi... |
ORPHA:2822 |
| Aceruloplasminemia |
|
Chorea, Diabetes mellitus, Ataxia, Retinal degeneration |
OMIM:604290 |
| Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Corneal opacity, Inability to walk, Optic atrophy, Developm... |
OMIM:617183 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Multiple joint contractures, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:504476 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
| Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:609054 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Obesity, Pigmentary retinopathy, Posterior polar cataract, Rod-cone dystrophy |
OMIM:616562 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Large earlobe, Gray matter... |
OMIM:619312 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Aggressive behavior, Macrotia, Bulimia, Self-biting, Central hypothyroidis... |
OMIM:300912 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Prominent antihelix, Difficulty walking, Abnormal r... |
OMIM:617807 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy |
ORPHA:254343 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy |
OMIM:617121 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Loss of ambulat... |
ORPHA:225154 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Aggressive behavior |
ORPHA:329284 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Broad-based gait, At... |
ORPHA:206448 |
| Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Ataxia, Akinesia, Congestive heart failur... |
ORPHA:48818 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
| Norrie Disease |
|
Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture, Abnormal repe... |
ORPHA:649 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Abnormal cranial nerve morphology, Gait ataxia, Macular degeneration, Dysdiadoc... |
ORPHA:247234 |
| Ciliary Dyskinesia, Primary, 12 |
|
Chronic otitis media, Reduced sperm motility, Abnormal central microtubular pair morphology of re... |
OMIM:612650 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Gapo Syndrome |
|
Dysmenorrhea, Optic atrophy, Amenorrhea, Oligozoospermia, Hypogonadism, Low-set ears, Hearing imp... |
ORPHA:2067 |
| Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Cataract, Ataxia, Corneal opacity, Optic atrophy, Dysmetria, Umbilical hernia, D... |
ORPHA:93399 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Optic atrophy, Dysphagia |
ORPHA:1177 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Ataxia, Flexion contracture of finger, Axonal ... |
ORPHA:88628 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Ataxia, Jerky head movements |
OMIM:245348 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Inability to walk, Cerebral atrophy, Bilateral conductive hearing impairment,... |
OMIM:617802 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysphagia, Truncal a... |
OMIM:601338 |
| Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked ... |
OMIM:216400 |
| Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Ataxia, Impulsivity, Unsteady gait, Optic atrophy, F... |
ORPHA:35069 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Inability to walk, Flexion contracture, Optic atrophy, Sensory axonal neuropat... |
OMIM:609541 |
| Stiff Skin Syndrome |
|
Cataract, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture, Camptodactyly |
OMIM:184900 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy, Dysphagia |
OMIM:619527 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract, Dysmetria, Dysphagia |
OMIM:619780 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Limb joint contracture, Optic atrophy, Pigmentary retinopathy, Athetos... |
OMIM:617282 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Mitral regurgitation, Attention defi... |
ORPHA:313892 |
| Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Hypospadias, Ataxia, Hypsarrhythmia, Continuous spike ... |
OMIM:619428 |
| Wildervanck Syndrome |
|
Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms |
ORPHA:530983 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Waddling gait, Spastic ataxia, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphag... |
OMIM:607259 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Optic atrophy, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking |
ORPHA:529665 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
| Poretti-Boltshauser Syndrome |
|
Retinal thinning, Gray matter heterotopia, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Corneal ulceration, Abnormal autonomic nervous system... |
OMIM:256800 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Recurrent o... |
OMIM:614874 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Optic atrophy, Craniosynostosis |
ORPHA:1528 |
| Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Cerebellar atrophy, Restless legs, Somatic sensory dysfunction, Ataxia, ... |
ORPHA:94147 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Sensorineural hearing impairment, Lissencephaly, Agyria, Retinal degeneration |
OMIM:615249 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Optic neuropathy, Abn... |
ORPHA:909 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Hypospadias, Focal polymicrogyria, Cryptorchidism, Head-banging, Low-set ears... |
OMIM:619103 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Failure to thrive, Optic atrophy, Facial palsy |
OMIM:615085 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Failure to thrive, Optic atrophy, Ataxia |
OMIM:616881 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Macrotia, Abnormal repetitiv... |
ORPHA:391307 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Retinal detachment, Rieger anomaly, Congenital hypothyroidism, Bilateral sensorineural hearing im... |
ORPHA:521445 |
| Mucopolysaccharidosis Type 3 |
|
Atrioventricular block, Otitis media, Thickened helices, Conductive hearing impairment, Loss of a... |
ORPHA:581 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Cranial hyperostosis, Optic atrophy, Osteoporosis, Coarse me... |
ORPHA:2801 |
| Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Increased reti... |
OMIM:606519 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Motor tics, Hyperactivity, Ataxia, Akinesia, Optic atrophy, Phonic tics, Choreoathetosis, Pigment... |
OMIM:234200 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Ataxia, Short-segment aganglionic meg... |
OMIM:609136 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Oligozoospermia, Right bundle branch block, Premature ventricular contraction, Hypog... |
OMIM:602668 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Obesity, Compulsive behavio... |
OMIM:618430 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Ataxia, Hypothyroidism, Sensorineural hearing impairment, Protruding ear, Hypoplasi... |
ORPHA:2479 |
| Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Cryptorchidis... |
OMIM:193700 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic... |
ORPHA:401777 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Kleefstra Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Aggressive behavior, Cryptorchidism, Obesity, Compulsive ... |
OMIM:610253 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Perisylvian polymicrogyria, Scissor gait, Dysmetria, Facial diplegia, Attent... |
OMIM:619121 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration |
OMIM:607016 |
| Arts Syndrome |
|
Optic atrophy, Ataxia, Dysphagia |
OMIM:301835 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... |
OMIM:619580 |
| Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, G... |
ORPHA:496790 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Optic atrophy, Athetosis, Dysphagia, Loss of ambulation, Failure to thrive |
OMIM:617951 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Small for gestational age, Hypospadi... |
ORPHA:464311 |
| Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, ... |
ORPHA:191 |
| 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 Dominant 48 |
|
Hyperactivity, Hypospadias, Sensorineural hearing impairment, Low-set ears, Recurrent otitis medi... |
OMIM:617751 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
| 22Q11.2 Duplication Syndrome |
|
Anterior creases of earlobe, Compulsive behaviors, Attention deficit hyperactivity disorder, Disp... |
ORPHA:1727 |
| Leber Optic Atrophy |
|
Ataxia, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic ... |
OMIM:535000 |
| 5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Cerebellar atrophy, Precocious puberty, Obesity, Multifocal epileptiform disc... |
ORPHA:369837 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
| Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... |
OMIM:270200 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Optic atrophy, Osteopetrosis |
OMIM:611490 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy, Ataxia, Dysmetria |
OMIM:618688 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Hyperactivity, Compulsive behaviors, Aggressive behavior |
OMIM:619467 |
| Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Self-injurious behavior, Bruxism, Macrotia, Abnormal repetitive manner... |
OMIM:618004 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Low-set ears, Attention deficit hyperactiv... |
OMIM:619293 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes... |
ORPHA:1873 |
| Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy, Ataxia |
OMIM:618248 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Ataxia, Spastic gait, Retinal degeneration |
OMIM:270700 |
| Treacher-Collins Syndrome |
|
Failure to thrive, Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal... |
ORPHA:861 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Sensorineural hearing impairment, Angioid streaks of the fundus, Failure to thrive,... |
OMIM:239000 |
| Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Ina... |
ORPHA:72 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Agyria, Optic nerve hypoplasia, Cryptorchidism, Optic atroph... |
OMIM:236670 |
| Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Inguinal hernia, Cataract, Ataxia, Corneal opacity, Optic atrophy, Dysme... |
ORPHA:93400 |
| Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Tics, Low-set ears, Attention deficit hyperactivity disorder, Conductiv... |
OMIM:617808 |
| Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Small for gestational age, Premature ovarian insufficiency, ... |
ORPHA:125 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal dystrophy, Anorexia |
ORPHA:49827 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Failure to thrive in infancy, Pheochromocytoma, Elevated circulating calci... |
OMIM:162300 |
| Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Sensorineural hearing impairment, Limb ataxia, Gait ... |
OMIM:248500 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Hyperactivity, Impulsivity, Aggre... |
ORPHA:580 |
| Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po... |
ORPHA:280921 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failu... |
ORPHA:85450 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Congenital sensorineural h... |
ORPHA:52427 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Gait disturbance, Neurodegeneration, Difficulty walking, Retinal degeneration |
ORPHA:79244 |
| White-Sutton Syndrome |
|
Waddling gait, Failure to thrive, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia... |
OMIM:616364 |
| Triple A Syndrome |
|
Ataxia, Optic atrophy, Iris coloboma, Motor axonal neuropathy |
ORPHA:869 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Optic atrophy, Dysmetria, Dysphagia |
OMIM:618233 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner... |
ORPHA:206436 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Leukopenia, Intrauterine growth retardation |
OMIM:615190 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Posteriorly rotated ears, Aggressive behavior, Protruding ear, Gait ataxia, Absent scrotum, Low-s... |
OMIM:618479 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy, Low-set e... |
ORPHA:436245 |
| Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy, Dysphagia |
ORPHA:137867 |
| Schindler Disease, Type I |
|
Osteopenia, Optic atrophy |
OMIM:609241 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Supernumerary nipple, Impaired pain sensation, Gait ataxia, Low-set ears, Brain atrophy, Abnormal... |
OMIM:616579 |
| Developmental And Epileptic Encephalopathy 93 |
|
Inability to walk, Optic atrophy, Iris coloboma, Gait disturbance |
OMIM:618012 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... |
OMIM:264800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic neuropathy, Akinesia, Optic atrophy, Choreoathetosis, Truncal ataxia, Fa... |
OMIM:618249 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
| Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation |
ORPHA:816 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Small for gestational age, Abnormal auditory evoked potentials, Ataxia... |
OMIM:133540 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Retinal degeneration, Hearing impairment |
OMIM:272200 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Cataract, Ataxia, Morning glory anomaly, Optic atrophy, Gait disturbance, Dysphagia, Temporal opt... |
ORPHA:98673 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Cataract, Ataxia, Corneal opacity |
ORPHA:309288 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Failure to thrive, Ataxia, Optic atrophy, Facial diplegia, Dysphagia, Facial paralysis |
OMIM:613559 |
| Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
| Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
| Childhood Absence Epilepsy |
|
Punding, Jerky head movements, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Inguinal hernia, Cataract, Optic nerve hypoplasia, Flexion contracture, Epiphyseal st... |
OMIM:222765 |
| Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
| Transketolase Deficiency |
|
Secondary amenorrhea, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactiv... |
ORPHA:488618 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Recurrent otitis media, Conductive hearing impairment, Rod-... |
ORPHA:244 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Glue ear, ... |
ORPHA:1433 |
| Trichothiodystrophy |
|
Cryptorchidism, Protruding ear, Gait ataxia, Macular degeneration, Gonadal dysgenesis, Cardiomyop... |
ORPHA:33364 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Pulmonary embolism, Atrophy of the spinal cord, Dilated cardiomyopathy,... |
ORPHA:79282 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Aggressive behavior, Cryptorchidism, Self... |
ORPHA:261494 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Hypsarrhythmia, Sick sinus syndrome, Bradycardia, Prolonged PR interva... |
ORPHA:542306 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Cataract |
OMIM:613730 |
| Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy, Gait disturbance |
ORPHA:588 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Posteriorly rotated ears, Severe temper tantrums, Low-set ears, Compulsive behavio... |
OMIM:618027 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Mixed hearing impairment, Absent nipple, Aplasia of the thymus, Facial palsy, Iris coloboma, Opti... |
OMIM:620186 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Hyperostosis Cranialis Interna |
|
Facial palsy, Optic atrophy, Osteosclerosis of the base of the skull, Calvarial hyperostosis, Hyp... |
OMIM:144755 |
| Snijders Blok-Campeau Syndrome |
|
Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Low-set ears, Pulmonic... |
OMIM:618205 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Cataract, Optic atrophy, Dysphagia |
OMIM:612379 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
| Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Hypothyroidism, Retinal vascular malformation, Ectopic thyroid, Heterochr... |
ORPHA:42775 |
| 7Q11.23 Microduplication Syndrome |
|
Simplified gyral pattern, Dysmetria, Abnormal optic disc morphology, Chronic otitis media, Abnorm... |
ORPHA:96121 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:301094 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Infertility, ... |
OMIM:613808 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Retinal dystrophy, Macrotia, Cerebral atrophy, Prominent antihelix, Inappropriate laughter, Pulmo... |
OMIM:615802 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials |
OMIM:109120 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Ataxia, Optic atrophy, Opto-chiasmatic atrophy, Gait ataxia, Loss of ambulation |
OMIM:620089 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Retinal degeneration |
OMIM:615630 |
| Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked... |
ORPHA:171929 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Cerebellar atrophy, Hypospadias, Optic nerv... |
ORPHA:468631 |
| Wolfram Syndrome 1 |
|
Cataract, Ataxia, Optic atrophy, Pigmentary retinopathy, Dysphagia |
OMIM:222300 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| White-Sutton Syndrome |
|
Cerebellar atrophy, Hyperactivity, Posteriorly rotated ears, Aggressive behavior, Abnormal repeti... |
ORPHA:468678 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora... |
ORPHA:254930 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Dense calvaria, Hernia, Dysphagia, Rod-cone dystrophy |
OMIM:252930 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism, Hearing impairment |
OMIM:616351 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Pachygyria, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Failure to thrive, Hyperactivity, Small for gestational ... |
ORPHA:464306 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compul... |
OMIM:300986 |
| Werner Syndrome |
|
Diabetes mellitus, Hypogonadism, Retinal degeneration |
OMIM:277700 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
| Abetalipoproteinemia |
|
Ataxia, Retinopathy, Retinal degeneration |
OMIM:200100 |
| Mend Syndrome |
|
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Low-set ... |
ORPHA:401973 |
| Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Posteriorly rotated ears, Self-injurious behavior, Compulsive behavior... |
OMIM:613174 |
| Den Hoed-De Boer-Voisin Syndrome |
|
EEG with focal spike waves, Posteriorly rotated ears, Ataxia, Overweight, Inability to walk, Obes... |
OMIM:619229 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri... |
OMIM:617827 |
| Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
| Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Aganglionic megacolon, Thyroid C cell hyperpla... |
ORPHA:653 |
| Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
| Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration |
ORPHA:168549 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
| 4Q21 Microdeletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Low-set ears, Hearing impairment |
ORPHA:238750 |
| Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorc... |
ORPHA:2166 |
| Spastic Paraplegia Type 2 |
|
Optic atrophy, Spastic gait, Ataxia |
ORPHA:99015 |
| Rett Syndrome, Congenital Variant |
|
Chorea, Tongue thrusting, Simplified gyral pattern, Protruding ear, EEG abnormality, Athetosis, B... |
OMIM:613454 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c... |
ORPHA:447788 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Agitation, Cerebral ischemia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:927 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Retinal degeneration, Premature ovarian insufficiency, Abnormal circula... |
ORPHA:79474 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Broad-based gait, Aganglionic megacolon, Aggressive behavior, Underfolded ... |
OMIM:300352 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent otitis media, Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620242 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Cryptorchidism, Attention deficit hyperactivity disorder, Labial hypoplasia, ... |
OMIM:620073 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, P... |
OMIM:160980 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ... |
ORPHA:1782 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Protruding ear, Tics, Otitis media, Chorioretinal coloboma, Compulsive behaviors, ... |
OMIM:619475 |
| Bainbridge-Ropers Syndrome |
|
Posteriorly rotated ears, Supernumerary nipple, Precocious puberty, Cryptorchidism, Inability to ... |
OMIM:615485 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia... |
OMIM:617061 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Hyperostosis, Limbal dermoid, Heterochro... |
ORPHA:2969 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Gait disturbance, Shuffling gait, Dysphagia, Motor axonal neuropathy |
ORPHA:289560 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ... |
ORPHA:899 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Unsteady gait, Subdural hemorrhage, Retina... |
ORPHA:90324 |
| Pettigrew Syndrome |
|
Aggressive behavior, Flexion contracture, Optic atrophy, Gait ataxia, Choreoathetosis, Self-injur... |
OMIM:304340 |
| Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Optic a... |
OMIM:618651 |
| Hurler Syndrome |
|
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Neurodegeneration, Recurrent otitis m... |
OMIM:607014 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Posteriorly rotated ears, Cervix cancer, Multinodular goiter |
OMIM:620189 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Supernumerary nipple, Cryptorchidism, Obesity, Heart murmur, Micropenis, Anisocoria, Low-set ears... |
OMIM:618653 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhy... |
ORPHA:457351 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
| Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Cryptorchidism, Cupped ear, Gait ataxia, Self-injurious behavior, Thickened... |
OMIM:610954 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Cranial hyperostosis, Optic atrophy, Diaphyseal sclerosis, Decreased o... |
OMIM:259710 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Ataxia, Osteoporosis, Pseudobulbar paralysis, Difficulty walking, Ab... |
OMIM:213700 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Optic atrophy, Limb ataxia, Gait ataxia, Difficulty walking, Dysphagia |
ORPHA:98768 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Crypt... |
OMIM:617330 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity, Decreased body weight |
OMIM:608747 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Rod-cone dystrophy, Hypoautofluorescent retinal lesion, Low-set ears, Macrotia, Retinal degeneration |
OMIM:250410 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Impulsivity, Aggressive behavior, Cupped ear, Self-injurious behavior, Pulmonic stenosis, Abnorma... |
OMIM:618914 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Optic nerve hypoplasia, Inability to walk, Sensorineural hearing impairment, Simp... |
ORPHA:300570 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased heart rate variability, Impaired pain sensation, Cryptorchidism, EEG abnormality, Atten... |
OMIM:619005 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Ataxia, Retinal degeneration |
OMIM:615558 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Failure to thrive, Hyperactivity, Retinal dystrophy, Posteriorly rotated ears, Cryptorchidism, Se... |
OMIM:619512 |
| Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Aggressive behavior, Sensorineural hearing impairment, Macrotia, Unstea... |
OMIM:212066 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of parotid gland, Abnormal optic ... |
ORPHA:79078 |
| Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Optic atrophy, Gait ataxia |
OMIM:618800 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Conductive hearing impairment, Abnormal repetitive mannerisms, Hypothyroidis... |
ORPHA:1606 |
| Pilarowski-Bjornsson Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:617682 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Optic atrophy, Dysmetria, Gait atax... |
ORPHA:95 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Cataract, Inability to walk, Developmental glauc... |
ORPHA:99956 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn... |
OMIM:613154 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
| Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Anorexia, Ectopia lentis, Opti... |
ORPHA:394 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Obesity, Choreoathetosis, Attention deficit hyperactivity disor... |
ORPHA:261197 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy, Obesity |
OMIM:612291 |
| Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
ORPHA:98784 |
| Thyroid Ectopia |
|
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
| Tetrasomy 9P |
|
Absent gallbladder, Hyperactivity, Glue ear, Abnormal chorioretinal morphology, Pericarditis, Ray... |
ORPHA:3310 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Sensorineural hearing impairment, Retinal atrophy |
OMIM:617236 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... |
OMIM:615607 |
| Rauch-Steindl Syndrome |
|
Attached earlobe, Hyperactivity, Aggressive behavior, Prominent crus of helix, Protruding ear, Fa... |
OMIM:619695 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormal optic disc morphology |
OMIM:617516 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia |
OMIM:610217 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Supernumerary nipple, Aggressive behavior, Unsteady gait, Low-set ears, Abnormal temper t... |
ORPHA:457279 |
| Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
| Say-Barber-Miller Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Macrotia, Optic atrophy, Protruding ear, Macul... |
ORPHA:3132 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Opt... |
ORPHA:1764 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy, Steppage gait, Ga... |
ORPHA:101076 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
| 3P25.3 Microdeletion Syndrome |
|
Ataxia, Sensorineural hearing impairment, Abnormality of the outer ear, Attention deficit hyperac... |
ORPHA:435638 |
| Papillorenal Syndrome |
|
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Sensorineural hearing impai... |
OMIM:120330 |
| Stüve-Wiedemann Syndrome |
|
Impaired pain sensation, Paresthesia, Abnormal autonomic nervous system physiology, Ectopic thyro... |
ORPHA:3206 |
| Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Optic atrophy, Gait disturbance, Dysphagia, Failure to thrive, Thin bony cortex |
OMIM:230600 |
| Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Increased bone mineral density, Small for gestational age, Developmental cataract, R... |
OMIM:127000 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Sensorineural hearing impairment, Cerebral... |
OMIM:301040 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Abnormally ossified vertebrae, Optic atrophy, Microcornea, Iris ... |
ORPHA:3301 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms |
OMIM:616393 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Impaired pain sensation, Tongue thrusting, Unsteady gait, ... |
OMIM:606232 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Reduced sperm motility |
OMIM:608647 |
| 2Q37 Microdeletion Syndrome |
|
Supernumerary nipple, Obesity, Compulsive behaviors, Attention deficit hyperactivity disorder, Co... |
ORPHA:1001 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Dpagt1-Cdg |
|
Failure to thrive, Ataxia, Lipodystrophy, Akinesia, Aggressive behavior, Inability to walk, Flexi... |
ORPHA:86309 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Aggressive behavior, Optic disc colo... |
OMIM:213300 |
| Nephronophthisis 11 |
|
Anisocoria, Polydipsia, Retinal degeneration |
OMIM:613550 |
| Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Retinal atrophy, Inability to walk, Optic atrophy, Bradycardia... |
ORPHA:97297 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... |
ORPHA:672 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Dysphagia, Macrotia, Abnormal repetitive mannerisms, C... |
ORPHA:496641 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Gait disturbance, Truncal ataxia |
OMIM:619259 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Multinodular goiter |
OMIM:618373 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Ataxia, Impulsivity, Optic atrophy, Gait disturbance, Los... |
OMIM:614298 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic... |
ORPHA:2785 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
| Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Retinopathy, Retinal degeneration |
OMIM:252600 |
| Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Sensorineural hearing impairment, Head-banging, Hematochezia, Self-injurious behavior... |
OMIM:619575 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Vici Syndrome |
|
Macular atrophy, Congestive heart failure, Sensorineural hearing impairment, Dilated cardiomyopat... |
OMIM:242840 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
EEG with parietal focal spikes, Posteriorly rotated ears, Aggressive behavior, Precocious puberty... |
OMIM:301066 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Cry... |
ORPHA:353281 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Optic atrophy, Anisocoria, Abnormal autonomic nervous system phy... |
OMIM:231550 |
| Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Orthostatic tachycardia, Neoplasm of the thymus, Hyper... |
ORPHA:217253 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Macrotia, Abnormal repeti... |
OMIM:615656 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Posteriorly rotated ears, Small for gestational age, Hypospadias, Cryptorchidism, ... |
OMIM:309590 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Ataxia, Posterior cortical cataract, Anterior cortical c... |
ORPHA:67036 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Chronic otitis media, Micropenis, Portal h... |
OMIM:619503 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Facial palsy, Decreased response to growth hormone stimu... |
OMIM:615873 |
| Microphthalmia, Syndromic 5 |
|
Microcornea, Cataract, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
| Sandifer Syndrome |
|
Hematemesis, Abnormal head movements |
ORPHA:71272 |
| Knobloch Syndrome 1 |
|
Retinal detachment, Optic disc pallor, Ataxia, Band keratopathy, Chorioretinal atrophy, Developme... |
OMIM:267750 |
| Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... |
ORPHA:485 |
| Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
| Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Impulsivity, Cerebral atrophy, Protruding ear,... |
OMIM:301030 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Hyperparathyroidism, Chorioretinal dysplasia, Cryptorchidism, ... |
ORPHA:534 |
| Peroxisome Biogenesis Disorder 4B |
|
Retinal dystrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, ... |
OMIM:614863 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Type II lissencephaly, Optic atrophy, EEG abnormality, Hypoplasia of the retina,... |
OMIM:253280 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
| Alport Syndrome |
|
Sensorineural hearing impairment, Macular degeneration, Hypertension, Retinal flecks, Dysphagia, ... |
ORPHA:63 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-biting, Choreoat... |
ORPHA:522077 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Pachygyria, Repetitive compulsive behavior, Abnormal Eustachian tube morphology... |
ORPHA:513456 |
| Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber |
OMIM:616722 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
ORPHA:476126 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Chronic otitis media, Reduced progressive sperm motility |
OMIM:619608 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Coffin-Siris Syndrome 12 |
|
Overfolding of the superior helices, Posteriorly rotated ears, Facial palsy, Hypospadias, Cryptor... |
OMIM:619325 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Low-se... |
ORPHA:319182 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Primrose Syndrome |
|
Restlessness, Diabetes mellitus, Hypergonadotropic hypogonadism, Calcification of the auricular c... |
OMIM:259050 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic fibrosis, Pancreatic cysts, Bile duct proliferation, Pulmonary insufficiency, Retinal ... |
OMIM:208500 |
| Developmental And Epileptic Encephalopathy 100 |
|
Chorea, EEG with photoparoxysmal response, Cerebral atrophy, Gait ataxia, Choreoathetosis, Brain ... |
OMIM:619777 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... |
OMIM:177850 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
| Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Facial palsy, Anorexia, Cachexia, Abnormal subcutaneous fat tissue distrib... |
ORPHA:1328 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Adrenal hypoplasia, Hearing impairment |
OMIM:308050 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Failure to thrive, Retinal dystrophy, Posteriorly rotated ears, Ataxia, Pancreatic cysts, Macular... |
OMIM:266920 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Contracture of the proximal interphalangeal joint of the 5... |
ORPHA:293967 |
| Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Retinal crystals,... |
OMIM:259900 |
| Arboleda-Tham Syndrome |
|
Posteriorly rotated ears, Bilateral cryptorchidism, Anteverted ears, Abnormal repetitive manneris... |
OMIM:616268 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Cataract, Inability to walk, Optic atrophy, Dysphagia |
OMIM:617913 |
| Farber Disease |
|
Macular degeneration, Cherry red spot of the macula, Failure to thrive, Brain atrophy |
ORPHA:333 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Abnormal pinna morphology, Small for gestational age, Hypospadias, Precocious pub... |
OMIM:194190 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Hyp... |
ORPHA:798 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Pericarditis, Abnormal retinal morphology, Abnormality of the endocrin... |
ORPHA:228123 |
| Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, EEG with generalized slow activity, Abnormal repetitive mannerisms, Hypsarrhyt... |
OMIM:300672 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Dysphagia, Protruding ear, Hypsarrhythmia, Brain atrophy, Low-set ea... |
ORPHA:447997 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Retinal astrocytic hamartoma, Impulsivity, Aggressive behavior, Retinal hamartoma,... |
ORPHA:805 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hypospadias, Facial palsy, Optic nerve hypoplasia, Abnormal optic disc morp... |
ORPHA:508498 |
| Floating-Harbor Syndrome |
|
Restlessness, Broad-based gait, Small for gestational age, Hypospadias, Impulsivity, Aggressive b... |
ORPHA:2044 |
| Renal Cysts And Diabetes Syndrome |
|
Atretic vas deferens, Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypop... |
OMIM:137920 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Developmental cataract, Retinal calcification, Cortical thickening of long bone diap... |
ORPHA:93325 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Unsteady gait, Loss of ambulation, Abnor... |
OMIM:616682 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Small scrotum, Posteriorly rotated ears, Optic nerve hypoplasia,... |
OMIM:620330 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
| Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Obesity, Astigmatism, Retinal vascular tortuosity, Rod-cone dystrophy |
OMIM:619471 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Hypertension, Reduced sperm motility, Pituitary growth hormone cell adenoma |
ORPHA:730 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Ataxia, Aggressive behavior... |
OMIM:614756 |
| Ogden Syndrome |
|
Premature atrial contractions, Maternal diabetes, Cryptorchidism, Ventricular tachycardia, Cerebr... |
OMIM:300855 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Anorexi... |
ORPHA:91500 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Disproportionate short stature, Hypereosinophilia, ... |
ORPHA:508533 |
| Kinsship Syndrome |
|
Bruxism, Brain atrophy, Low-set ears, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619297 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Cry... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Cardiac conduction abnormality, Cry... |
ORPHA:353277 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Uplifted earlobe, Conductive hearing impairment, Webbed penis, Micropenis, Abnorma... |
ORPHA:2152 |
| Niemann-Pick Disease, Type C2 |
|
Abnormal repetitive mannerisms, Dysphagia |
OMIM:607625 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Uplifted earlobe, Webbed penis, Micropenis, Abnormal repetitive mannerisms, Iris c... |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Uplifted earlobe, Abnormal pupil morphology, Webbed penis, Micropenis, Abnormal re... |
ORPHA:261552 |
| Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Retinal dystrophy, Subretinal deposits, Early ossification of capital femoral epiphyses, Abnormal... |
ORPHA:397715 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Hydrocele testis, Microtia, Chordee, Low-s... |
OMIM:619522 |
| Ramon Syndrome |
|
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Decreased body weight |
OMIM:266270 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Knobloch Syndrome |
|
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology |
ORPHA:1571 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Sensorineural hearing impairment, Protruding ear, Truncal obesity, Self-inj... |
OMIM:612474 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Hypsarrhythmia, EEG abnormality, Overfolded helix, Abnormal repetitive ... |
OMIM:301044 |
| Lowe Oculocerebrorenal Syndrome |
|
Cryptorchidism, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Posteriorly rotated ears, Low-set ears, Aggressive behavior |
OMIM:619548 |
