Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity, Decreased body weight |
OMIM:616311 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Phosphoserine Phosphatase Deficiency |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:614023 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Recurrent ot... |
OMIM:615993 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Pendred Syndrome |
|
Thyroid carcinoma, Cochlear malformation, Abnormal vestibular function, Compensated hypothyroidis... |
OMIM:274600 |
Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Central heterochromia, Small for gestation... |
OMIM:275400 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Abnormal vestib... |
OMIM:611102 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Optic atrophy, Retinal degeneration, Limb ataxia, Ataxia, Cerebellar atrophy |
OMIM:614322 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Sensorineural hearing impairment, Retinal degeneration |
OMIM:238340 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Retinitis Pigmentosa Inversa With Deafness |
|
External genital hypoplasia, Rod-cone dystrophy, Retinitis pigmentosa inversa, Sensorineural hear... |
OMIM:268010 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Goiter, Sensorineural hearing impairment, Incomplete partition of t... |
OMIM:600791 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration, Increased extraneuronal autofluorescent lipopigment, Ataxia, Abnormal nervo... |
OMIM:204500 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Gait ataxia, Cataract, Limb ataxia, Spastic gait |
OMIM:617133 |
Pendred Syndrome |
|
Hypothyroidism, Sensorineural hearing impairment, Thyroid carcinoma, Hypoplasia of the cochlea, E... |
ORPHA:705 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Rod-cone dystrophy, Cataract, Obesity |
OMIM:615995 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Cataract, Truncal obesity |
ORPHA:75858 |
Liberfarb Syndrome |
|
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Bone... |
OMIM:618889 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Concentric hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration, ... |
OMIM:204200 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Hypertension, Congestive heart failure, Olig... |
OMIM:615703 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Retinal dystrophy, Goiter, Secondary amenorrhea |
OMIM:617175 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, EEG abnormality, Retinal degeneration, Macular degeneration, Ataxia, Increased neu... |
OMIM:256730 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism |
ORPHA:356996 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Impaired vibration sensation at ankles, Cerebral cortical atrophy, Decreased testicular size, Tru... |
ORPHA:320391 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Cryptorchidi... |
OMIM:615982 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Abnormal nervous system electrophysiology, Increased neuronal autofluoresce... |
OMIM:601780 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Type II diabetes mellitus, Retinal degeneration, Abnormal vesti... |
OMIM:520000 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Positive Romber... |
OMIM:616515 |
Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration, Reduced sperm m... |
OMIM:602271 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Dilated card... |
OMIM:615981 |
Ravine Syndrome |
|
Decreased body weight, Abnormal auditory evoked potentials, Ataxia, Failure to thrive, Atrophy/De... |
ORPHA:99852 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Dysdiadochokinesis, Retinal degeneration, Ataxia, Dysmetria, Loss of a... |
OMIM:256731 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Congenital Hypothyroidism |
|
Hypotension, Hypothyroidism, Paresthesia, Hypogonadism, Optic atrophy, Anterior hypopituitarism, ... |
ORPHA:442 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Fragile X Syndrome |
|
Congenital macroorchidism, Macrotia, Periventricular heterotopia, Abnormal head movements, Recurr... |
OMIM:300624 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter, Hearing impairment |
OMIM:228355 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Small for gestational age, Delayed ossification of carpal bones, Inguinal ... |
OMIM:618392 |
Primary Dystonia, Dyt13 Type |
|
Jerky head movements, Abnormal repetitive mannerisms |
ORPHA:98807 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Cataract, Hyperactivity |
ORPHA:85288 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Intrauterine growth retardation, Pancytopenia, Postnatal growth retardation |
OMIM:600546 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peri... |
OMIM:617879 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Hearing impairment, Goiter |
OMIM:617577 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, A... |
OMIM:249270 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... |
OMIM:614292 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Sensorineural hearing impairment, Goiter |
OMIM:274240 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Chorea, Thyroid hemiagenesis, Sensorineural hearing impairment, ... |
ORPHA:209905 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Ataxia, Vertigo |
ORPHA:71518 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Sensorineural hearing impairment, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
Hsd10 Mitochondrial Disease |
|
Cerebral cortical atrophy, Sensorineural hearing impairment, Optic atrophy, Retinal degeneration,... |
OMIM:300438 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Hypogonadism, Retinal atrophy, Type II diabetes mellitus, Infertility, Oligomenor... |
ORPHA:412057 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormal spermatogenesis, Abnormality of the mid... |
ORPHA:90646 |
Alg6-Cdg |
|
Rod-cone dystrophy, Retinal degeneration, Ataxia, Puberty and gonadal disorders, Failure to thriv... |
ORPHA:79320 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Sensorineural hearing impairment, Elevated circulating thyro... |
ORPHA:95716 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... |
ORPHA:457059 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Peripheral Cone Dystrophy |
|
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy |
OMIM:609021 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss, Congestive heart failure, Increased circulating free T3, Decreased thyroid-stimulati... |
OMIM:275000 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... |
OMIM:188570 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration, Distal sensory impairment |
OMIM:619764 |
Usher Syndrome, Type Iv |
|
Sensorineural hearing impairment, Hyperautofluorescent macular lesion, Retinal atrophy, Retinal d... |
OMIM:618144 |
Thyroid Dyshormonogenesis 3 |
|
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma |
OMIM:274700 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Impaired distal vibration sensation, Cerebral co... |
OMIM:604360 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Thyroid Cancer, Nonmedullary, 4 |
|
Papillary thyroid carcinoma, Prostate cancer, Goiter, Ovarian neoplasm |
OMIM:616534 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Limb ataxia, Impai... |
ORPHA:251282 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
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 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Distal sensory im... |
OMIM:601382 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mellitus, Pr... |
OMIM:210740 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... |
OMIM:274500 |
Huntington Disease-Like 1 |
|
Gait ataxia, Chorea, Cerebral cortical atrophy, Weight loss, EEG abnormality, Abnormal head movem... |
ORPHA:157941 |
Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Compulsive behaviors |
ORPHA:100973 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Distal sensory impairment, Choroidal neovascularization, Decreased nerve co... |
OMIM:608895 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Abnormal head movements, Truncal ataxia, Progressive gait ataxia, Type II diabetes mel... |
ORPHA:247815 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Jeavons Syndrome |
|
EEG with hyperventilation-induced epileptiform discharges, Abnormal head movements, EEG with foca... |
ORPHA:139431 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility, Sensorineural hearing impairment |
ORPHA:94064 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Enlarged pituitary gland, Impotence, Decreased female libido, Ventricular arrhythmia... |
ORPHA:91347 |
Mucolipidosis Iv |
|
Cerebellar atrophy, Retinal degeneration, Hypergastrinemia, Optic atrophy |
OMIM:252650 |
Flynn-Aird Syndrome |
|
Rod-cone dystrophy, Increased bone density with cystic changes, Increased bone mineral density, A... |
OMIM:136300 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Retinal degeneration, Interictal EEG abnormality, Abnormal repetitive man... |
ORPHA:79264 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... |
ORPHA:8 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Angioid streaks of the fundus, Thyroiditis, Hydrocele testis, Th... |
OMIM:615108 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility |
ORPHA:3000 |
Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Angioid streaks of the fundus, Thyroiditis, Hydrocele testis, Th... |
OMIM:615109 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Brain atrophy, Abnormal auditory evoked potentials, Retinal deg... |
OMIM:619260 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... |
OMIM:613239 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
ORPHA:319487 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration, Sensorineural hearing impairment, Large earlobe |
OMIM:612948 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Immunodeficiency 19 |
|
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... |
OMIM:615617 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Ataxia, Abnormality of retinal pigmentation, Cataract, Abnormality of bone min... |
ORPHA:3156 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Microspherophakia With Hernia |
|
Retinal detachment, Inguinal hernia, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Sensorineural hearing impairment, Abnormal retinal nerve fiber layer ... |
ORPHA:1215 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia |
OMIM:234500 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Rod-cone dystrophy, Retinal atrophy, Ataxia, Neuronal loss in central nervous system, Cerebral at... |
OMIM:610127 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with generalized slow activity grade 4, EEG with series of focal spikes, Inability to walk, R... |
ORPHA:168491 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... |
OMIM:125250 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Ataxia, Vertigo |
ORPHA:79136 |
Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Athetosis, Ataxia, Abnormal head movements |
ORPHA:382 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Spinocerebellar Ataxia 7 |
|
Chorea, Optic atrophy, Macular degeneration, Dysmetria, Progressive cerebellar ataxia, Pigmentary... |
OMIM:164500 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Brain atrophy, Optic atrophy, Retinal degeneration, Hypsarrhythmia, Ataxia, Failure to thrive, EE... |
ORPHA:442835 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Functioning Gonadotropic Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... |
ORPHA:91348 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment, Ataxia |
ORPHA:3233 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... |
OMIM:251270 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping |
OMIM:309548 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Elbow flexion contracture, Optic atrophy, Broad-based gait, Hyperactivity |
OMIM:619470 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Angioid streaks of the fundus, Thyroiditis, Hydrocele testis, Th... |
OMIM:158350 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment, Ataxia |
OMIM:271250 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Ataxia |
ORPHA:85334 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Mitral regu... |
OMIM:616648 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... |
ORPHA:399805 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract, Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Alstrom Syndrome |
|
Irregular menstruation, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response ... |
OMIM:203800 |
Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Conductive hearing impairment, Choroideremia, Progressive se... |
OMIM:303110 |
48,Xxyy Syndrome |
|
Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of penis, Azoosperm... |
ORPHA:10 |
Growth Hormone Deficiency, Isolated Partial |
|
Short stature, Postnatal growth retardation |
OMIM:615925 |
Mccune-Albright Syndrome |
|
Decreased fertility, Irregular menstruation, Macroorchidism, Precocious puberty, Increased circul... |
ORPHA:562 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Bardet-Biedl Syndrome 9 |
|
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Weight loss, Palpitations, Tachycardia, Goiter |
OMIM:188580 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Glutaric Aciduria Iii |
|
Failure to thrive, Hyperthyroidism, Hypertension, Goiter |
OMIM:231690 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Parathyroid adenoma, Neoplasm of the parathyroid gland, Pituitary... |
ORPHA:163634 |
Foxg1 Syndrome |
|
Decreased body weight, Inability to walk, Stereotypical hand wringing, Optic disc hypoplasia, Cho... |
ORPHA:561854 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... |
ORPHA:226313 |
Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Somatic sensory dysfunction, Sensorineural hearing impairment, Abnormality of somatosensory evoke... |
ORPHA:320401 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... |
ORPHA:95715 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Small for gestational age, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compul... |
ORPHA:352490 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... |
ORPHA:1473 |
Lead Poisoning |
|
Somatic sensory dysfunction, Small for gestational age, Decreased female libido, Infertility, Abn... |
ORPHA:330015 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Macrotia, Decreased response to growth hormone stimulation test, Decreased testicular size, Gait ... |
ORPHA:457240 |
Bardet-Biedl Syndrome 1 |
|
Attenuation of retinal blood vessels, Abdominal obesity, Hearing impairment, Rod-cone dystrophy, ... |
OMIM:209900 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration, Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Ogden Syndrome |
|
Macrotia, Shuffling gait, Abnormal head movements, Cardiogenic shock, Arrhythmia, Cerebral atroph... |
ORPHA:276432 |
New-Onset Refractory Status Epilepticus |
|
EEG with frontal epileptiform discharges, Global brain atrophy, EEG with generalized epileptiform... |
ORPHA:363558 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Hyperactivity |
DECIPHER:39 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Retinitis Pigmentosa 38 |
|
Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Peripheral retinal atrophy |
OMIM:613862 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Delayed vertebral ossification, Absent vertebral body mineralization,... |
ORPHA:93296 |
Hsd10 Disease, Infantile Type |
|
Rod-cone dystrophy, Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Choreoa... |
ORPHA:391428 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Conjunctival telangi... |
ORPHA:95433 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Recurrent otitis media, Immotile sperm |
OMIM:618449 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Mohr-Tranebjaerg Syndrome |
|
Global brain atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hear... |
ORPHA:52368 |
Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... |
OMIM:113650 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, EEG abnormality, Absent brainstem auditory responses, Choreoath... |
OMIM:617519 |
Developmental And Epileptic Encephalopathy 28 |
|
Simplified gyral pattern, Retinal degeneration, Cerebral atrophy, Optic atrophy |
OMIM:616211 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... |
ORPHA:652 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Increased circulating T4 concentration, Thyrotoxicosis with diffuse goiter, Co... |
ORPHA:525731 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Impotence, Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Atr... |
ORPHA:99027 |
Bardet-Biedl Syndrome 17 |
|
Rod-cone dystrophy, Hypogonadism, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy,... |
OMIM:615994 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Abnormal autonomic nervous system physiology, Cerebral vasculitis, Hashimoto thyr... |
ORPHA:83601 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Periventricular heterotopia, Optic atrophy, Simplified gyral pattern, Macular atroph... |
OMIM:616171 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Christianson Syndrome |
|
Gait ataxia, Macrotia, Cerebral cortical atrophy, Truncal ataxia, Cachexia, Abnormal repetitive m... |
ORPHA:85278 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Rod-cone dystrophy, Microcornea |
OMIM:619082 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Anaplastic Thyroid Carcinoma |
|
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Weight loss |
ORPHA:142 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Rod-cone dystrophy, Sensorineural hearing impairment, Retinal degene... |
OMIM:266500 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Small for gestational age, Increased circulating T4 concentration, Thyroid hyper... |
OMIM:609152 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... |
OMIM:212550 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Hyperactivity, Optic atrophy |
OMIM:274270 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal fold, Optic atrophy, Agitation, Microcornea, Astigmatism, Cataract, Attention deficit hyp... |
OMIM:152950 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
Usher Syndrome Type 1 |
|
Cerebral cortical atrophy, Sensorineural hearing impairment, Subcortical cerebral atrophy, Iris h... |
ORPHA:231169 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Achromatopsia |
|
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebral cortical atrophy, Abnormal repetitive mannerisms, Overweight, Difficulty walking, Cerebe... |
ORPHA:280763 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Ataxia, Testicular atrophy, Cerebellar atrophy |
OMIM:613909 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Autosomal Dominant Cerebellar Ataxia |
|
Chorea, Somatic sensory dysfunction, Sensorineural hearing impairment, Akinesia, Retinal degenera... |
ORPHA:99 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
OMIM:267760 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... |
OMIM:617406 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Huntington Disease-Like 3 |
|
Chorea, Cerebral cortical atrophy, Abnormal head movements, Progressive gait ataxia, Caudate atro... |
ORPHA:157946 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204000 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Optic atrophy, Anterior hypopituitarism, Bilater... |
ORPHA:1435 |
Nephronophthisis 15 |
|
Retinal degeneration, Obesity |
OMIM:614845 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Hypoplastic helices, EEG abnormality, Abnormalit... |
ORPHA:391372 |
Retinitis Pigmentosa 88 |
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Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Ophthalmoplegia, External, And Myopia |
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Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Ciliary Dyskinesia, Primary, 46 |
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Reduced sperm motility, Hearing impairment, Recurrent otitis media |
OMIM:619436 |
Aniridia 2 |
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Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Astigmatism, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:619927 |
Oculorenocerebellar Syndrome |
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Retinal degeneration, Choreoathetosis |
OMIM:257970 |
Thyroid Lymphoma |
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Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter |
ORPHA:97285 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
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Macroorchidism, Macrotia, Shuffling gait, Spastic gait, Choreoathetosis, Ataxia, Male hypogonadis... |
OMIM:300055 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Occipital cortical atrophy, Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges... |
ORPHA:411986 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Autosomal Dominant Keratitis |
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Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Retinitis Pigmentosa 68 |
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Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
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Retinal detachment, Cataract, Delayed ossification of carpal bones |
OMIM:127200 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Gait ataxia, Hypothyroidism, Goiter, Hyperthyroidism, Reduced left ventricular ejection fraction,... |
ORPHA:254892 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased motor nerve conduction velocity, Distal sensory impairment, Difficulty walking, Abnorma... |
OMIM:601596 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria |
OMIM:618090 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Hyperactivity, Developmental cataract, Contracture of the proximal interphalangeal joint of the 5... |
OMIM:620141 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Abnormal antihelix morphology, Hypothyroidism, Thyroid hypoplasia, Failure to thrive, Ectopic thy... |
ORPHA:3047 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
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Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... |
OMIM:225250 |
Usher Syndrome Type 3 |
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Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Vestibular hypofunction, Abnorma... |
ORPHA:231183 |
Morning Glory Disc Anomaly |
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Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Smith-Magenis Syndrome |
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Hypothyroidism, Conductive hearing impairment, Precocious puberty, EEG abnormality, Gait disturba... |
ORPHA:819 |
Cone-Rod Dystrophy 5 |
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Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Hypoplasia of the thymus, Small for gestational age, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Small for g... |
ORPHA:424 |
Bietti Crystalline Dystrophy |
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Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Dista... |
OMIM:601455 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Premature thelarche, Nodular goiter, Hypertension, Type I diabetes mellitus, Polycystic ovaries, ... |
ORPHA:371428 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
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Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Retinal degeneration |
OMIM:616896 |
Stickler Syndrome, Type V |
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Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Macrotia, Cerebral cortical atrophy, Rod-cone dystrophy, Heart murmur, Retinal degeneration, Cryp... |
ORPHA:166035 |
Pallister-Hall Syndrome |
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Precocious puberty, Decreased response to growth hormone stimulation test, Microtia, Decreased te... |
OMIM:146510 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Rod-cone dystrophy, Optic atrophy, Achilles tendon contracture, Ataxia, Dysmetria, Cataract, Subc... |
OMIM:612674 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Rod-cone dystrophy, Optic disc pallor, Reduced sperm motility, Macular atrophy |
OMIM:615434 |
Stargardt Disease |
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Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Developmental And Epileptic Encephalopathy 67 |
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EEG abnormality, Hypsarrhythmia, Recurrent hand flapping, Gait disturbance, Cerebellar atrophy, A... |
OMIM:618141 |
Inverted Duplicated Chromosome 15 Syndrome |
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Precocious puberty, Hypogonadism, Abnormal repetitive mannerisms, Gonadal dysgenesis, Cryptorchid... |
ORPHA:3306 |
Medullary Thyroid Carcinoma |
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Weight loss, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Medullary thyroid carcinoma, ... |
ORPHA:1332 |
Cystinosis |
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Hypothyroidism, Retinopathy, Gait disturbance, Type I diabetes mellitus, Abnormal repetitive mann... |
ORPHA:213 |
Adult Krabbe Disease |
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Somatic sensory dysfunction, EEG abnormality, Impaired tactile sensation, Gait disturbance, Erect... |
ORPHA:206448 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Iris hypopigmentation, Ataxia, Polyphagia, Obesity, Broad-based gait |
ORPHA:411515 |
Charcot-Marie-Tooth Disease Type 1F |
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Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... |
ORPHA:101085 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
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Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Sensorineural hearing impairment, Recurrent otitis media, Abnormal repetitive mannerisms, Diabete... |
ORPHA:500159 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
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Postnatal growth retardation, Abdominal obesity, Short stature, Truncal obesity |
OMIM:618160 |
Aniridia-Intellectual Disability Syndrome |
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Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis |
ORPHA:1068 |
Microphthalmia, Isolated, With Coloboma 3 |
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Iris coloboma, Cataract |
OMIM:610092 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Retinal atrophy, Retinal dystrophy, Head titubation, Ataxia |
ORPHA:370022 |
Senior-Loken Syndrome 9 |
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Rod-cone dystrophy, Hypogonadism, Macular degeneration, Retinal dystrophy, Obesity |
OMIM:616629 |
Rett Syndrome |
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Increased serum leptin, Inability to walk, Stereotypical hand wringing, EEG abnormality, Abnormal... |
ORPHA:778 |
Phenylketonuria |
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Cataract, Attention deficit hyperactivity disorder, Blue irides, Hyperactivity |
OMIM:261600 |
Igg4-Related Thyroid Disease |
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Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... |
ORPHA:64744 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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