Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Stereotypy |
OMIM:617787 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight, Chorioretinal degeneration |
OMIM:616311 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Stereotypy |
OMIM:606053 |
Autism |
|
Stereotypy |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Stereotypy |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Stereotypy |
OMIM:608636 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cataract |
ORPHA:1397 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Retinal degeneration, Ataxia, Spasticity, Limb ... |
OMIM:614322 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy |
OMIM:300271 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Paroxysmal dyskinesia, Chorea |
OMIM:611031 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Recurrent otitis media, External genital hypoplasia, Rod-cone dystrophy, He... |
OMIM:615993 |
Morm Syndrome |
|
Retinal dystrophy, Truncal obesity, Hyperactivity, Cataract, Retinal atrophy |
ORPHA:75858 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Hearing impairment, Corpus callosum atrophy, Abnormal sperm head morph... |
ORPHA:320391 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... |
OMIM:204500 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Small for gestational age, Hypogonadotropic hypogonadism, Central heterochr... |
OMIM:275400 |
Pendred Syndrome |
|
Cochlear malformation, Thyroid carcinoma, Goiter, Congenital sensorineural hearing impairment, Co... |
OMIM:274600 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Smith-Magenis syndrome |
|
Stereotypy |
DECIPHER:8 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Bilateral sensorineural hearing impairment, Reduced s... |
OMIM:611102 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia, Cataract |
OMIM:617133 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Myoclonus, M... |
OMIM:256730 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Pendred Syndrome |
|
Thyroid carcinoma, Hypoplasia of the cochlea, Goiter, Enlarged vestibular aqueduct, Vertigo, Sens... |
ORPHA:705 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Retinal degeneration, Failure to thrive |
OMIM:238340 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Jerky head movements, Spastic gait, Spastic dys... |
ORPHA:251282 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Childhood-onset truncal obesity, Cataract, Truncal obesity |
OMIM:610156 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigm... |
OMIM:256731 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment, Retinitis pigmentosa inversa, External genital hypoplasia, Rod-... |
OMIM:268010 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... |
ORPHA:99852 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Obesity, Cataract, Rod-cone dystrophy |
OMIM:615995 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Hypsarrhythmia, Stereotypy, Spastic diplegia, Inability to walk |
OMIM:617830 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Impaired proprioception, Hearing impairment, Corpus callosum atrophy, Type I diabetes mellitus, P... |
ORPHA:412057 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Hypertension, Infertility, Type II diabetes mellitus, Azoospermia, Myocardial infar... |
OMIM:615703 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
N-Acetylaspartate Deficiency |
|
Truncal ataxia, Stereotypy |
OMIM:614063 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Fetal Iodine Deficiency Disorder |
|
Spastic diplegia, Congenital hypothyroidism, Congenital goiter, Hearing impairment |
OMIM:228355 |
Thyrocerebroretinal Syndrome |
|
Goiter, Myoclonus, Sensorineural hearing impairment, Ataxia, Slurred speech |
OMIM:274240 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Small for gestational age, Goiter, Hearing impairment |
OMIM:274300 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight, Osteopenia |
OMIM:608747 |
Dysequilibrium Syndrome |
|
Gait disturbance, Ataxia, Cataract |
ORPHA:1766 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Thyrocerebrorenal Syndrome |
|
Myoclonus, Sensorineural hearing impairment, Euthyroid goiter, Slurred speech, Nonprogressive cer... |
ORPHA:3327 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration, Choreoathetosis, Spastic tetrap... |
OMIM:300438 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age |
ORPHA:356996 |
Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... |
ORPHA:99 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity |
OMIM:618160 |
Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Gait disturbance, Cerebellar atrophy, Jerky head movements, Fr... |
ORPHA:157941 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Retinal dystrophy, Premature ovarian insufficiency |
OMIM:617175 |
Brain-Lung-Thyroid Syndrome |
|
Clumsiness, Hypospadias, Elevated circulating thyroid-stimulating hormone concentration, Incoordi... |
ORPHA:209905 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Retinal degeneratio... |
OMIM:604360 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility |
OMIM:602271 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility, Hearing impairment |
OMIM:608653 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration, Rigidity, Spasticity, Cerebral atrophy |
OMIM:616211 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Abnormal nervous system ele... |
OMIM:601780 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, Obesity, Cry... |
OMIM:615982 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Stereotypy |
OMIM:618709 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy |
OMIM:618220 |
Mucolipidosis Iv |
|
Dystonia, Optic atrophy, Babinski sign, Retinal degeneration, Cerebellar atrophy, Spastic tetrapl... |
OMIM:252650 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Concentric hypertrophic cardiomyopathy, Optic atrophy, Increased extraneuronal autofluorescent li... |
OMIM:204200 |
Bardet-Biedl Syndrome 2 |
|
Dilated cardiomyopathy, Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hy... |
OMIM:615981 |
Congenital Hypothyroidism |
|
Abnormality of reproductive system physiology, Optic atrophy, Hypertension, Paresthesia, Goiter, ... |
ORPHA:442 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... |
ORPHA:240103 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Ataxia, Decreased response to growth hormone stimulation test, Retinal degeneration, Spasticity |
OMIM:225755 |
Spastic Paraparesis-Deafness Syndrome |
|
Gait disturbance, Ataxia, Cataract |
ORPHA:2815 |
Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Retinal degeneration, Vertigo, Cardiomyopathy, Sensorineural hearing i... |
OMIM:520000 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Ma... |
OMIM:164500 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... |
OMIM:616468 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Involuntary movements, Optic atrophy, Limb hypertonia, Retinal degeneration, Rigidity, Failure to... |
ORPHA:442835 |
Mohr-Tranebjaerg Syndrome |
|
Global brain atrophy, Oromandibular dystonia, Vestibular dysfunction, Abnormal pyramidal sign, Ca... |
ORPHA:52368 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract, Small for gestational age |
ORPHA:85288 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Spasticity, Stereotypy |
OMIM:617393 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal degeneration, Cardiomyopathy, Sensorineural hearing impairment, Ataxia, Di... |
OMIM:249270 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Periventricular heterotopia, Abnormal head movements, Macrotia, Con... |
OMIM:300624 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Autism, Susceptibility To, X-Linked 2 |
|
Stereotypy |
OMIM:300495 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Poor coordination |
OMIM:309548 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy |
OMIM:616341 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Simplified gyral pattern, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis,... |
OMIM:619470 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Spastic tetraplegia, Stereotypy |
OMIM:615282 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ataxia |
OMIM:619150 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Infertility, Goiter, Hearing impairment |
OMIM:617577 |
Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
Fraxe Intellectual Disability |
|
Clumsiness, Stereotypical body rocking, Recurrent hand flapping |
ORPHA:100973 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Positive perchlorate discharge test, Increased radioactive iod... |
ORPHA:95716 |
Episodic Ataxia Type 4 |
|
Ataxia, Abnormal head movements, Incoordination, Frequent falls |
ORPHA:79136 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Obesity, Hyperphagia, And Developmental Delay |
|
Stereotypy |
OMIM:613886 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Goiter, Myoclonus, Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis, Abnorma... |
ORPHA:83601 |
Bangstad Syndrome |
|
Small for gestational age, Goiter, Insulin-resistant diabetes mellitus, Progressive cerebellar at... |
OMIM:210740 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Type II diabetes mellitus, Diffuse cerebellar atrophy, Abnormal head movements, Progre... |
ORPHA:247815 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Attention deficit hyperactivity disor... |
ORPHA:3000 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Failure to thrive, Macrotia, Posteriorly rotated ears, Stereotypy, Hyp... |
OMIM:609425 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment, Diabetes mellitus, S... |
OMIM:172500 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Impaired proprioception, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the ... |
ORPHA:99027 |
Immunodeficiency 17 |
|
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia |
OMIM:615607 |
Alg6-Cdg |
|
Retinal degeneration, Failure to thrive, Rod-cone dystrophy, Ataxia, Increased circulating androg... |
ORPHA:79320 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Optic disc pallor, Myoclonic spasms, Retinal degeneration, Poor motor coordination, C... |
ORPHA:79264 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... |
OMIM:608051 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Spastic tetraplegia, Hearing impairment |
OMIM:258700 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... |
OMIM:610202 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Enlarged cochlear aqueduct, Congenital stationary night blindness,... |
ORPHA:90646 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Impaired sensitivity to thyroid hormone, Attention deficit hyperactivity disorder, Increased circ... |
OMIM:188570 |
47,Xyy Syndrome |
|
Oligospermia, Hypospadias, Increased serum testosterone level, Macroorchidism, Congenital station... |
ORPHA:8 |
Baker-Gordon Syndrome |
|
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements |
OMIM:618218 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy |
ORPHA:90654 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... |
OMIM:212550 |
Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Hyperprolinemia, Type I |
|
Ataxia, Stereotypy |
OMIM:239500 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Ventricular arrhythmia, Abnormality of the menstrual cycle, Decreased female libido, Abno... |
ORPHA:91347 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... |
ORPHA:457059 |
Cowden Syndrome 5 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Intention tremor, Hearing impairment, Hyperthyroidism, Thy... |
OMIM:615108 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... |
OMIM:180104 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Rigidity, Neuronal loss in ce... |
OMIM:610127 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... |
OMIM:618204 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Hyperkinetic movements |
ORPHA:397933 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Cowden Syndrome 6 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Intention tremor, Hearing impairment, Hyperthyroidism, Thy... |
OMIM:615109 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... |
ORPHA:85128 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
Huntington Disease-Like 3 |
|
Dystonia, Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor f... |
ORPHA:157946 |
Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progres... |
OMIM:125250 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, S... |
ORPHA:1215 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Osteoporosis, Rod-cone dystrophy, Ataxia, Increased b... |
OMIM:136300 |
Graves Disease, Susceptibility To, 1 |
|
Goiter, Weight loss, Hyperactivity, Congestive heart failure, Graves disease |
OMIM:275000 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration |
OMIM:153700 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Retinal degeneration, Poor coordination, Ch... |
ORPHA:391428 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter |
OMIM:274700 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Chorea, Stereotypical hand wringing |
OMIM:618760 |
Jeavons Syndrome |
|
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... |
ORPHA:139431 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Conjunctival telangiectasia, Spast... |
ORPHA:95433 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Spasticity, Stereotypy |
OMIM:612069 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Dystonia, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform disch... |
ORPHA:88616 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy, Cranial nerve compression |
OMIM:250450 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Permanent Congenital Hypothyroidism |
|
Tetraplegia, Hypothyroidism, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Adult Krabbe Disease |
|
Clumsiness, Prolonged brainstem auditory evoked potentials, Babinski sign, Hoffmann sign, Gait di... |
ORPHA:206448 |
Doyne Honeycomb Retinal Dystrophy |
|
Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... |
OMIM:618144 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Cerebellar atrophy, Retinal degeneration, EEG with series of focal spikes, EEG ... |
ORPHA:168491 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... |
ORPHA:98798 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Palpitations, Weight loss, Tachycardia, Hyperthyroidism, Periodic paralysis |
OMIM:188580 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Choroidal neovascularization, Decreased nerve conduction velocity, Macular degeneration, ... |
OMIM:608895 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Ataxia, Hearing impairment |
OMIM:271250 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrophy, Atax... |
ORPHA:3156 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:233810 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Palpitations, Weight loss, Tachycardia, Hyperthyroidism, Periodic paralysis |
OMIM:613239 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Failure to thrive, Hypsarrhythmia, Stereotypical hand wringing, Spasticity, Cerebral atrophy |
ORPHA:500545 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... |
OMIM:611040 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy |
OMIM:605670 |
Bardet-Biedl Syndrome 1 |
|
Gait imbalance, Rod-cone dystrophy, Hearing impairment, Micropenis, Nephrogenic diabetes insipidu... |
OMIM:209900 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Ataxia, Cholelithiasis, Retinal degeneration |
OMIM:214980 |
Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Goiter, Neoplasm of the adrenal cortex, Cere... |
ORPHA:163634 |
Retinitis Pigmentosa 37 |
|
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hypopigmentation of the fundus, Large... |
OMIM:600501 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Ataxia, Macular degeneration |
ORPHA:85334 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Thyroid hyperplasia, Goiter, Small for gestational age, Hand tremor, Weight loss, Hyperactivity, ... |
ORPHA:424 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Increased adipose tissue, Gait disturbance, Cataract, Tip-toe gait |
OMIM:617404 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Choreoathetosis, Facial palsy, Absent brainstem auditory responses, Sensorineural hearing impairm... |
OMIM:617519 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Failure to thrive, Cataract, Arthrogryposis multiplex congenita, Small for gestational age |
OMIM:212540 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Pediatric-Onset Graves Disease |
|
Hypertension, Increased circulating T4 level, Atrial fibrillation, Goiter, Puberty and gonadal di... |
ORPHA:525731 |
Cowden Syndrome 1 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Intention tremor, Hearing impairment, Hyperthyroidism, Thy... |
OMIM:158350 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Macrotia, Stereotypy, Tremor, Myocardial infarction, Mic... |
ORPHA:457240 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea |
OMIM:616171 |
Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Prolonged brainstem auditory evoked potentials, Gait disturbance, Acroparesthesia, Fr... |
ORPHA:206443 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment, Male infertility, Azoospermia |
ORPHA:94064 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Ogden Syndrome |
|
Torticollis, Abnormal head movements, Macrotia, Shuffling gait, Cardiogenic shock, Hypertonia, Ce... |
ORPHA:276432 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Poor gross motor coordination, Infertility, Decreased ci... |
ORPHA:330015 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Retinal degeneration, Ce... |
OMIM:619260 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:319487 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactiv... |
ORPHA:352490 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Stereotypy |
OMIM:615541 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Pontocerebellar Hypoplasia, Type 11 |
|
Poor coordination, Macrotia, Stereotypy, Ataxia, Inability to walk, Decreased body weight, Spasti... |
OMIM:617695 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... |
OMIM:300200 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Myxedema |
|
Paresthesia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidi... |
OMIM:255900 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Oculorenocerebellar Syndrome |
|
Spastic diplegia, Retinal degeneration, Choreoathetosis |
OMIM:257970 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Goiter, Ventricular arrhythmia, Hearing impairment, Diabetes mellitus, Le... |
ORPHA:254892 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Ataxia, Oculomotor apraxia, Jerky head movements, Choreoathetosis |
OMIM:245348 |
Aceruloplasminemia |
|
Involuntary movements, Dystonia, Abnormality of retinal pigmentation, Retinal degeneration, Rigid... |
ORPHA:48818 |
Mental Retardation, Autosomal Recessive 41 |
|
Stereotypy |
OMIM:615637 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Cerebellar atrophy, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing,... |
OMIM:618917 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology, Azoospermia, Torticollis, Intention tremor, Hypergonadotropic h... |
OMIM:613724 |
Familial Gestational Hyperthyroidism |
|
Thyroid hyperplasia, Goiter, Hand tremor, Weight loss, Hyperactivity, Hyperthyroidism, Activating... |
ORPHA:99819 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy |
OMIM:613862 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atr... |
OMIM:619092 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
Smith-Magenis Syndrome |
|
Morphological abnormality of the middle ear, Impaired pain sensation, Stereotypy, Hearing impairm... |
OMIM:182290 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Aceruloplasminemia |
|
Retinal degeneration, Torticollis, Chorea, Abnormality of extrapyramidal motor function, Cogwheel... |
OMIM:604290 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Attention deficit hyperactivity disorder, Cataract, Arthrogryposis multiplex c... |
ORPHA:250994 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Chronic otitis media, Stereotypy, Tremor, At... |
ORPHA:10 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
Foxg1 Syndrome |
|
Dystonia, Choreoathetosis, Optic disc hypoplasia, Myoclonus, Stereotypy, Pachygyria, Inability to... |
ORPHA:561854 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Large earlobe, Sensorineural hearing impairment, Macular degeneration |
OMIM:612948 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... |
OMIM:601596 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Clumsiness, Macroorchidism, Goiter, Thyroid hypoplasia, Failure to thrive, Pituitary hypothyroidi... |
ORPHA:90674 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Dystonia, Cerebellar atrophy, Spastic dysarthria, Stereotypy, Waddling gait, Diffi... |
ORPHA:280763 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:600138 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Babinski sign, Myoclonus, Rigidity, Stereotypy |
OMIM:600795 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Retinal degeneration, Poor coordination, Bone spicule pigmentation of the retina... |
OMIM:615994 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Weight loss, Vocal cord paralysis, Anaplastic thyroid carcinoma, Nodular goiter |
ORPHA:142 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Failure to thrive, Lethargy |
OMIM:274270 |
Refsum Disease, Classic |
|
Retinal degeneration, Cardiomyopathy, Rod-cone dystrophy, Sensorineural hearing impairment, Ataxi... |
OMIM:266500 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Stereotypy, Tremor, Hyperactivity, Inability to walk, Brain atrophy, EEG abnormality, Spasticity,... |
OMIM:618718 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Fasciculations, Intention tremor, Macular... |
ORPHA:284289 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Papillary thyroid carcinoma, Euthyroid multinodular goiter |
OMIM:138800 |
Thyroid Cancer, Nonmedullary, 4 |
|
Non-medullary thyroid carcinoma, Goiter |
OMIM:616534 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter, Lethargy |
OMIM:274400 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Papillary thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:97290 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... |
OMIM:310600 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Increased circulating prolactin concentration... |
ORPHA:562 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Opisthotonus, Retinal degeneration, Sensorineural hearing impairment... |
OMIM:616896 |
Autism, Susceptibility To, 3 |
|
Stereotypy |
OMIM:608049 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movements, Abnorma... |
ORPHA:382 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Mitral regurgitation, Sensorineural hearing i... |
OMIM:616648 |
Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Small for gestational age, Tachycardia, Hyperactivity, Hyperthyroidism |
OMIM:609152 |
Cataract 9, Multiple Types |
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Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Oromotor apraxia, Failure to thrive, Recurrent otitis media, Pulmonary arterial hypertension, Rep... |
ORPHA:391372 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... |
ORPHA:1473 |
Deiodinase, iodothyronine, type I |
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Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
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Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Charcot-Marie-Tooth Disease Type 1F |
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Impaired proprioception, Paresthesia, Impaired pain sensation, Steppage gait, Hand tremor, Optic ... |
ORPHA:101085 |
Leber Congenital Amaurosis 2 |
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Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Retinal Dystrophy And Obesity |
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Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... |
OMIM:616188 |
Alstrom Syndrome |
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Dilated cardiomyopathy, Pigmentary retinopathy, Hypertension, Diabetes insipidus, Insulin-resista... |
OMIM:203800 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Glutaric Aciduria Iii |
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Failure to thrive, Hypertension, Hyperthyroidism, Goiter |
OMIM:231690 |
Anterior Segment Dysgenesis 8 |
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Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Optic atrophy, Cataract, Flexion contracture, Retinal dysplasia |
OMIM:613154 |
Spinocerebellar Ataxia 32 |
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Testicular atrophy, Cerebellar atrophy, Infertility, Azoospermia, Ataxia |
OMIM:613909 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Rhabdomyosarcoma, Embryonal, 2 |
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Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter |
OMIM:180295 |
Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Short stature |
OMIM:615925 |
Pantothenate Kinase-Associated Neurodegeneration |
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Retinal flecks, Rod-cone dystrophy, Gait disturbance, Choreoathetosis, Intention tremor, Slurred ... |
ORPHA:157850 |
Spinocerebellar Ataxia Type 32 |
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Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility |
ORPHA:276183 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Bradycardia, Large for gestati... |
ORPHA:226313 |
Ectopia Lentis Et Pupillae |
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Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Exfoliation Syndrome |
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Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... |
OMIM:177650 |
Microspherophakia With Hernia |
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Retinal detachment, Microspherophakia, Inguinal hernia, Superior lens subluxation |
OMIM:157150 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
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Severe intrauterine growth retardation, Intrauterine growth retardation, Short stature, Small for... |
ORPHA:231144 |
Immunodeficiency 55 |
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Postnatal growth retardation, Intrauterine growth retardation, Neutropenia, Short stature |
OMIM:617827 |
Peroxisome Biogenesis Disorder 8B |
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Optic atrophy, Dysmetria, Retinal dystrophy, Failure to thrive, Ataxia, Cataract |
OMIM:614877 |
Xq21 Microdeletion Syndrome |
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Conductive hearing impairment, Optic atrophy, Hypertension, Dilatated internal auditory canal, Ab... |
ORPHA:1435 |
Mental Retardation, Autosomal Dominant 7 |
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Gait disturbance, Failure to thrive in infancy, Small for gestational age, Macrotia, Abnormality ... |
OMIM:614104 |
Ciliary Dyskinesia, Primary, 41 |
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Infertility, Immotile sperm, Recurrent otitis media |
OMIM:618449 |
Chromosome Xq21 Deletion Syndrome |
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Conductive hearing impairment, Choroideremia, Hearing impairment, Chorioretinal degeneration, Inc... |
OMIM:303110 |
Central Areolar Choroidal Dystrophy |
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Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
Usher Syndrome Type 1 |
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Subcortical cerebral atrophy, Sensorineural hearing impairment, Ataxia, Iris hypopigmentation, Ve... |
ORPHA:231169 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
Multiple Endocrine Neoplasia Type 1 |
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Shortened QT interval, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinom... |
ORPHA:652 |
Christianson Syndrome |
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Dystonia, Cachexia, Cerebellar atrophy, Neuronal loss in central nervous system, Macrotia, Stereo... |
ORPHA:85278 |
Pick Disease Of Brain |
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Stereotypy |
OMIM:172700 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
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Macrotia, Stereotypy, Hyperactivity, Micropenis, Cryptorchidism, Attention deficit hyperactivity ... |
OMIM:618504 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
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Failure to thrive, Knee flexion contracture, Iris coloboma, Cataract, Elbow flexion contracture |
ORPHA:171860 |
Spastic Paraplegia 15, Autosomal Recessive |
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Babinski sign, Clonus, Retinal degeneration, Paraplegia, Spastic gait, Lower limb spasticity, Mac... |
OMIM:270700 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
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Failure to thrive in infancy, Speech apraxia, Stereotypy, Obesity, Attention deficit hyperactivit... |
OMIM:613670 |
Cone-Rod Dystrophy 11 |
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Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration |
OMIM:610381 |
Central Retinal Vein Occlusion |
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Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Babinski sign, Abnormal cranial nerve morphology, Rigidity, Shuffling gait, Gait ataxia, Intentio... |
ORPHA:247234 |
8p23.1 deletion syndrome |
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Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
New-Onset Refractory Status Epilepticus |
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EEG with temporal epileptiform discharges, Global brain atrophy, Abnormal head movements, EEG wit... |
ORPHA:363558 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
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Arrhythmia, Retinal degeneration, Bradycardia, Sick sinus syndrome |
OMIM:617173 |
Mannosidosis, Beta A, Lysosomal |
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Tortuosity of conjunctival vessels, Hyperactivity |
OMIM:248510 |
Aminoacylase 1 Deficiency |
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Hyperactivity |
OMIM:609924 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
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Dystonia, Choroidal neovascularization, Macular degeneration, Spastic tetraparesis, Cryptorchidis... |
ORPHA:404451 |
Blepharochalasis And Double Lip |
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Goiter |
OMIM:109900 |
Retinitis Pigmentosa 13 |
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Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy |
OMIM:600059 |
Hyperlysinemia, Type I |
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