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 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility, Hearing impairment, Recurrent otitis media |
OMIM:619436 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:619927 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration, Choreoathetosis |
OMIM:257970 |
Thyroid Lymphoma |
|
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter |
ORPHA:97285 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Macrotia, Shuffling gait, Spastic gait, Choreoathetosis, Ataxia, Male hypogonadis... |
OMIM:300055 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges... |
ORPHA:411986 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neov... |
ORPHA:2334 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract, Delayed ossification of carpal bones |
OMIM:127200 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait ataxia, Hypothyroidism, Goiter, Hyperthyroidism, Reduced left ventricular ejection fraction,... |
ORPHA:254892 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Difficulty walking, Abnorma... |
OMIM:601596 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Gait disturbance, Dysmetria |
OMIM:618090 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Developmental cataract, Contracture of the proximal interphalangeal joint of the 5... |
OMIM:620141 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
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 |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... |
OMIM:225250 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Vestibular hypofunction, Abnorma... |
ORPHA:231183 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Conductive hearing impairment, Precocious puberty, EEG abnormality, Gait disturba... |
ORPHA:819 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
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 |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Small for g... |
ORPHA:424 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Gait disturbance, Decreased nerve conduction velocity, Dista... |
OMIM:601455 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Nodular goiter, Hypertension, Type I diabetes mellitus, Polycystic ovaries, ... |
ORPHA:371428 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Sensorineural hearing impairment, Retinal degeneration |
OMIM:616896 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Macrotia, Cerebral cortical atrophy, Rod-cone dystrophy, Heart murmur, Retinal degeneration, Cryp... |
ORPHA:166035 |
Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Microtia, Decreased te... |
OMIM:146510 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Rod-cone dystrophy, Optic atrophy, Achilles tendon contracture, Ataxia, Dysmetria, Cataract, Subc... |
OMIM:612674 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Rod-cone dystrophy, Optic disc pallor, Reduced sperm motility, Macular atrophy |
OMIM:615434 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Hypsarrhythmia, Recurrent hand flapping, Gait disturbance, Cerebellar atrophy, A... |
OMIM:618141 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Hypogonadism, Abnormal repetitive mannerisms, Gonadal dysgenesis, Cryptorchid... |
ORPHA:3306 |
Medullary Thyroid Carcinoma |
|
Weight loss, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Medullary thyroid carcinoma, ... |
ORPHA:1332 |
Cystinosis |
|
Hypothyroidism, Retinopathy, Gait disturbance, Type I diabetes mellitus, Abnormal repetitive mann... |
ORPHA:213 |
Adult Krabbe Disease |
|
Somatic sensory dysfunction, EEG abnormality, Impaired tactile sensation, Gait disturbance, Erect... |
ORPHA:206448 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Iris hypopigmentation, Ataxia, Polyphagia, Obesity, Broad-based gait |
ORPHA:411515 |
Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Somatic sensory dysfunction, Sensorineural hearing impairment, Paresthesia, Inabilit... |
ORPHA:101085 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Recurrent otitis media, Abnormal repetitive mannerisms, Diabete... |
ORPHA:500159 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Abdominal obesity, Short stature, Truncal obesity |
OMIM:618160 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis |
ORPHA:1068 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy, Head titubation, Ataxia |
ORPHA:370022 |
Senior-Loken Syndrome 9 |
|
Rod-cone dystrophy, Hypogonadism, Macular degeneration, Retinal dystrophy, Obesity |
OMIM:616629 |
Rett Syndrome |
|
Increased serum leptin, Inability to walk, Stereotypical hand wringing, EEG abnormality, Abnormal... |
ORPHA:778 |
Phenylketonuria |
|
Cataract, Attention deficit hyperactivity disorder, Blue irides, Hyperactivity |
OMIM:261600 |
Igg4-Related Thyroid Disease |
|
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... |
ORPHA:64744 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Cataract, Obesity, Retinal coloboma |
OMIM:601794 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia |
ORPHA:171844 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Microtia, Small for gestational age, Clitoral hypoplasia, Failure to thrive, Oligospermia, Diabet... |
OMIM:614813 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Congenital sensorineural hearing impairment, Primary amenorrhea, Hypoplasia of the ute... |
ORPHA:432 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Ischemic stroke, Cerebral hemorrhage, Decr... |
ORPHA:280679 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Optic atrophy, Perineal hypospadias, Bilateral cryptorchidism, Repetitive compuls... |
ORPHA:66634 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... |
ORPHA:169154 |
Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Weight loss, Thyrotoxico... |
ORPHA:99819 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Cockayne Syndrome Type 1 |
|
Pigmentary retinopathy, Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Abse... |
ORPHA:90321 |
Multiple Endocrine Neoplasia, Type Iia |
|
Parathyroid adenoma, Increased circulating cortisol level, Aganglionic megacolon, Hypertension, P... |
OMIM:171400 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Leber Congenital Amaurosis 4 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Tortuosity of conjunctival vessels, Truncal ataxia, Progressive gait ataxia, Macular degeneration... |
ORPHA:284289 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Cataract, Obesity, Retinal coloboma |
ORPHA:363741 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy, Ataxia |
OMIM:614879 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Pigmentary retinopathy, Rod-cone dystrophy, Joint contracture of the hand, Optic atrophy, Camptod... |
OMIM:609033 |
Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Weight loss, Ataxia, Progressive cerebellar ataxia, Broad-based gait |
ORPHA:248111 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... |
OMIM:310600 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Rod-cone dystrophy, Tip-toe gait, Optic atrophy, Tics, Retinal degeneration, Choreoathetosis, Gai... |
ORPHA:157850 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
Cowden Syndrome |
|
Enlarged polycystic ovaries, Mucosal telangiectasiae, Adenoma sebaceum, Ataxia, Abnormality of th... |
ORPHA:201 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Ambiguous genitalia, Conductive hearing impairment, Decreased circ... |
ORPHA:95699 |
Gapo Syndrome |
|
Optic atrophy, Hypogonadism, Oligospermia, Low-set ears, Dysmenorrhea, Hearing impairment, Amenor... |
ORPHA:2067 |
Stiff Skin Syndrome |
|
Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Lipodystrophy, Cataract |
OMIM:184900 |
Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... |
ORPHA:226316 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic... |
ORPHA:96179 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... |
ORPHA:91351 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Intermediate Uveitis |
|
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... |
ORPHA:279914 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Iris coloboma, Absent foveal reflex |
OMIM:615147 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility... |
OMIM:612650 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology, Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Postnatal growth retardation |
OMIM:609054 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... |
OMIM:613807 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... |
ORPHA:90791 |
Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Gait disturbance, Abnormal repetitive mannerisms, EEG with conti... |
ORPHA:275864 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch... |
ORPHA:414 |
Aceruloplasminemia |
|
Chorea, Diabetes mellitus, Retinal degeneration, Ataxia |
OMIM:604290 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Jerky head movements |
ORPHA:240103 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Optic Atrophy 11 |
|
Gait apraxia, Macrotia, Brain atrophy, Optic atrophy, Ataxia, Optic nerve hypoplasia, Facial dipl... |
OMIM:617302 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Sensorineural hearing impairment, EEG abnormality, Hypoplasia of the iris, Abnorm... |
ORPHA:2479 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Congenital Primary Aphakia |
|
Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... |
ORPHA:83461 |
Aceruloplasminemia |
|
Gait ataxia, Chorea, Akinesia, Retinal degeneration, Macular degeneration, Limb ataxia, Congestiv... |
ORPHA:48818 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Jerky head movements, Ataxia |
OMIM:245348 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent inner dynein arms, Recurrent otitis media, Male infertility, Absent outer dynein arms, Imm... |
OMIM:614874 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Hypogonadism, Type II diabetes mellitus, Premature ventricular contrac... |
OMIM:602668 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... |
OMIM:304020 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Cerebral cortical atrophy, Choroidal neovascularization, Cryptorchidism |
ORPHA:404451 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Chorea, Macrotia, Decreased body weight, Inability to walk, Repetitive compulsive behavior, Ataxi... |
OMIM:300260 |
5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Norrie Disease |
|
Cerebral cortical atrophy, Optic atrophy, EEG abnormality, Cachexia, Uterine rupture, Abnormal vi... |
ORPHA:649 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
Cockayne Syndrome A |
|
Irregular menstruation, Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, ... |
OMIM:216400 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Impaired tactile sensation, Gait disturbance, Ata... |
ORPHA:206443 |
Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Retinal dystrophy, Gray matter heterotopia, Retinal thinning |
OMIM:615960 |
22Q11.2 Duplication Syndrome |
|
Aplasia/Hypoplasia of the thymus, Abnormal repetitive mannerisms, Compulsive behaviors, Hearing i... |
ORPHA:1727 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Dysmetria, Cataract, Macular degeneration, Dysphagia |
OMIM:619780 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Oculoauricular Syndrome |
|
Rod-cone dystrophy, Morning glory anomaly, Posterior embryotoxon, Cone/cone-rod dystrophy, Poster... |
OMIM:612109 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility, Recurrent otitis media |
OMIM:615500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Sensorineural hearing impairment, Retinal degeneration, Agyria, Lissencephaly, Type II lissencephaly |
OMIM:615249 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Inability to walk, Retinal degeneration, Gait disturbance, Ataxia, Ove... |
ORPHA:2822 |
Lamb-Shaffer Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Optic atrophy |
ORPHA:530983 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Late-Onset Retinal Degeneration |
|
Peripapillary atrophy, Iris transillumination defect, Macular degeneration, Choroidal neovascular... |
ORPHA:67042 |
Phace Association |
|
Horner syndrome, Optic atrophy, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidis... |
OMIM:606519 |
Leukodystrophy, Hypomyelinating, 13 |
|
Failure to thrive, Prolonged brainstem auditory evoked potentials, Ataxia, Optic atrophy |
OMIM:616881 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Macrotia, Rieger anomaly, Thyroid hypoplasia, Bilateral sensorineural hearing impairment, Retinal... |
ORPHA:521445 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration |
OMIM:607016 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypothyroidism, Macrotia, Hyperthyroidism, Recurrent hand flapping, Hypertension, Recurrent otiti... |
ORPHA:449291 |
Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Optic atrophy, Akinesia, Retinal degeneration, Choreoathetosis, Gait distur... |
OMIM:234200 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Global brain atrophy, Precocious puberty, Restrictive cardiomyopathy, Multifocal epileptiform dis... |
ORPHA:369837 |
2Q23.1 Microdeletion Syndrome |
|
Ataxia, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism |
ORPHA:228402 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration, Ataxia, Spastic gait |
OMIM:270700 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... |
OMIM:270200 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Macrotia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Retinopathy, Sensorineural hearing impairment, Angioid streaks of the fundus, Retinal degeneratio... |
OMIM:239000 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... |
ORPHA:1359 |
Bloom Syndrome |
|
Telangiectasia, Retinopathy, Small for gestational age, Premature ovarian insufficiency, Azoosper... |
ORPHA:125 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Pten Hamartoma Tumor Syndrome |
|
Thyroid carcinoma, Multinodular goiter, Thyroid adenoma, Endometrial carcinoma, Abnormal retinal ... |
ORPHA:306498 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Parathyroid hyperplasia, Nodular goiter, Pheochromocytoma, Elevated calcit... |
OMIM:162300 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Primary testicular failure, Weight loss, Abnormal testis morphology, Hypogonadism, Congestive hea... |
ORPHA:85450 |
Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
Mannosidosis, Alpha B, Lysosomal |
|
Gait ataxia, Macrotia, Cerebral cortical atrophy, Sensorineural hearing impairment, Retinal degen... |
OMIM:248500 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... |
ORPHA:52427 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Cerebellar cortical atrophy, Shuffling gait, Akinesia, Dysdiadochokinesis, Abnormal ... |
ORPHA:247234 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Repetitive compulsive behavior, Optic disc hypoplasia, Optic nerve hypoplasia, Com... |
ORPHA:401777 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Unsteady gait, Blue irides |
OMIM:615516 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Macrotia, Patchy atrophy of the retinal pigment epithelium, Attached earlobe,... |
ORPHA:436245 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cerebral cortical atrophy, Abnormality of neuronal migration, Small for gestational age, Posterio... |
ORPHA:464311 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Intrauterine growth retardation, Postnatal growth retardation |
OMIM:615190 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Abnormal repetitive mannerisms, Mitral regurgitation, Optic atrophy |
ORPHA:313892 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:529965 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Infantile Krabbe Disease |
|
Optic atrophy, Cachexia, Diffuse cerebral atrophy, Failure to thrive, Decreased nerve conduction ... |
ORPHA:206436 |
Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves... |
OMIM:613843 |
Cockayne Syndrome |
|
Somatic sensory dysfunction, Optic atrophy, Inability to walk, Retinal atrophy, Cachexia, Difficu... |
ORPHA:191 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Optic disc drusen, Retinal peau d'orange, Angioid... |
OMIM:264800 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... |
ORPHA:91495 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration, Gait disturbance, Difficulty walking, Neurodegeneration, Broad-based gait |
ORPHA:79244 |
Arthrogryposis, Distal, Type 2A |
|
Small for gestational age, Abnormal auditory evoked potentials, Failure to thrive, Cryptorchidism... |
OMIM:193700 |
Sjögren-Larsson Syndrome |
|
Macular degeneration, Retinopathy, Abnormality of retinal pigmentation |
ORPHA:816 |
Dystonia, Juvenile-Onset |
|
Small for gestational age, Pseudobulbar paralysis, Cataract, Loss of ambulation, Dysphagia |
OMIM:607371 |
Multiple Sulfatase Deficiency |
|
Retinal degeneration, Ataxia, Cerebral atrophy, Cerebellar atrophy, Hearing impairment |
OMIM:272200 |
Enhanced S-Cone Syndrome |
|
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy |
OMIM:268100 |
Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Abnormal sperm motility, Rod-cone dystrophy, Recurrent otitis medi... |
ORPHA:244 |
Oguchi Disease |
|
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon |
ORPHA:75382 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
D-Glyceric Aciduria |
|
Cerebral cortical atrophy, Sensorineural hearing impairment, Hypsarrhythmia, Optic nerve hypoplas... |
OMIM:220120 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Rett Syndrome |
|
Abnormal T-wave, Gait ataxia, Gait apraxia, Cerebral cortical atrophy, EEG abnormality, Stereotyp... |
OMIM:312750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Microtia, Retinal atrophy, Agyria, Polymicrogyria, Optic nerve hypoplasia, Retinal... |
OMIM:236670 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Optic atrophy, Retinal degeneration, Dilated... |
ORPHA:79282 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Familial Glucocorticoid Deficiency |
|
Hypotension, Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, ... |
ORPHA:361 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Pachygyria, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:572013 |
Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... |
OMIM:106210 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm, Recurrent otitis media, Abnormal axonemal organization of respirator... |
OMIM:613808 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Angelman Syndrome |
|
Precocious puberty in females, Cerebral cortical atrophy, Optic atrophy, Optic disc pallor, Inabi... |
ORPHA:72 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Rod-cone dystrophy, Camptodactyly, Gait disturbance, Ataxia, Bone spicule pigmentati... |
ORPHA:88628 |
Joubert Syndrome 6 |
|
Retinal degeneration, Ataxia, Bile duct proliferation, Chorioretinal coloboma |
OMIM:610688 |
Transketolase Deficiency |
|
Secondary amenorrhea, Type I diabetes mellitus, Abnormal repetitive mannerisms, Compulsive behavi... |
ORPHA:488618 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
4Q21 Microdeletion Syndrome |
|
Low-set ears, Hearing impairment, Abnormal repetitive mannerisms |
ORPHA:238750 |
Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration, Hypsarrhythmia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interva... |
ORPHA:542306 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
Immunodeficiency 55 |
|
Short stature, Lymphopenia, Intrauterine growth retardation, Neutropenia, Absent natural killer c... |
OMIM:617827 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... |
OMIM:221900 |
Phace Syndrome |
|
Hypothyroidism, Retinal vascular malformation, Optic nerve hypoplasia, Iris coloboma, Heterochrom... |
ORPHA:42775 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Rieger anomaly, Sensorineural hearing impairment |
OMIM:109120 |
Treacher-Collins Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Hypoplasia of the thymus, Microtia... |
ORPHA:861 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration, Obesity |
OMIM:615630 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder |
OMIM:301013 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... |
ORPHA:1772 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight, Osteopenia |
OMIM:608747 |
Mogs-Cdg |
|
Hypothyroidism, Sensorineural hearing impairment, Optic atrophy, External genital hypoplasia, Abs... |
ORPHA:79330 |
Cerebrotendinous Xanthomatosis |
|
Global brain atrophy, Hypothyroidism, Somatic sensory dysfunction, Abnormality of somatosensory e... |
ORPHA:909 |
Cockayne Syndrome B |
|
Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, Small for gestational ag... |
OMIM:133540 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Sensorineural hearing impairment, Spastic ataxia, Inability to walk, Simplified gyral pattern, Ab... |
ORPHA:300570 |
Trichothiodystrophy |
|
Gait ataxia, Cerebral cortical atrophy, Bilateral sensorineural hearing impairment, Retinal degen... |
ORPHA:33364 |
Zika Virus Disease |
|
Transient hearing impairment, Retinal pigment epithelial mottling, Optic disc hypoplasia, Abnorma... |
ORPHA:448237 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Rickets, Cataract, Op... |
OMIM:268315 |
Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy, Ataxia |
OMIM:200100 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Microphallus, Simplified gyral pattern, Thin ear helix, Abnormal rep... |
ORPHA:468631 |
Werner Syndrome |
|
Diabetes mellitus, Retinal degeneration, Hypogonadism |
OMIM:277700 |
Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy |
ORPHA:168549 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Abnormal repetitive mannerisms, Ataxia, Cerebral ischemia |
ORPHA:927 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Reduced sperm motility, Infertility, Recurrent otitis media |
OMIM:615444 |
Multiple Endocrine Neoplasia Type 2 |
|
Ganglioneuromatosis, Hypertension associated with pheochromocytoma, Parathyroid adenoma, Aganglio... |
ORPHA:653 |
7Q11.23 Microduplication Syndrome |
|
Simplified gyral pattern, Abnormal optic disc morphology, Aplasia/hypoplasia of the uterus, Abnor... |
ORPHA:96121 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Mucopolysaccharidosis Type 3 |
|
Pigmentary retinopathy, Conductive hearing impairment, Sensorineural hearing impairment, Rod-cone... |
ORPHA:581 |
Spinocerebellar Ataxia Type 7 |
|
Somatic sensory dysfunction, Cone/cone-rod dystrophy, Dysdiadochokinesis, Macular degeneration, A... |
ORPHA:94147 |
White-Sutton Syndrome |
|
Cerebral cortical atrophy, Subcortical cerebral atrophy, Sensorineural hearing impairment, Optic ... |
ORPHA:468678 |
Carney Complex, Type 1 |
|
Thyroid carcinoma, Pituitary adenoma, Congestive heart failure, Pheochromocytoma, Thyroid follicu... |
OMIM:160980 |
Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Otosclerosis, Sensorineural hearing impairment, Optic atrophy, Ret... |
ORPHA:580 |
Atypical Werner Syndrome |
|
Decreased body weight, Abnormal testis morphology, Neoplasm of the thyroid gland, Fasting hyperin... |
ORPHA:79474 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:611926 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Rod-cone dystrophy, Hernia, Dense calvaria, Dysphagia |
OMIM:252930 |
Alazami Syndrome |
|
Abnormal repetitive mannerisms, Stereotypical hand wringing |
ORPHA:319671 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Macrotia, Cerebral cortical atrophy, Anterior pituitary hypoplasia, Small for gestational age, Ga... |
ORPHA:464306 |
Kleefstra Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of penis, Supernumerary nipple, Abnormal repetitive manneri... |
ORPHA:261494 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Childhood Absence Epilepsy |
|
Jerky head movements, Punding |
ORPHA:64280 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Macrotia, Conductive hearing impairment, Abnormality of peripheral nerve cond... |
ORPHA:90324 |
Hurler Syndrome |
|
Retinal degeneration, Recurrent otitis media, Aortic regurgitation, Mitral regurgitation, Neurode... |
OMIM:607014 |
Bilateral Generalized Polymicrogyria |
|
Abnormal repetitive mannerisms |
ORPHA:208447 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Global brain atrophy, EEG with frontal sharp slow waves, Cerebral cortical atrophy, Sensorineural... |
ORPHA:457351 |
Trisomy 10P |
|
Absent gallbladder, Macrotia, Low voltage EEG, Small for gestational age, Abnormal auditory evoke... |
ORPHA:171929 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms |
ORPHA:79155 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Rod-cone dystrophy, Macrotia, Hypoautofluorescent retinal lesion, Retinal degeneration, Low-set ears |
OMIM:250410 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent cornea... |
OMIM:256800 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Hyperostosis, Shagreen... |
ORPHA:2969 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Gait ataxia, Absent scrotum, Retinal degeneration, Posteriorly rotated ears, Low-set ears, Protru... |
OMIM:618479 |
Macrocephaly-Developmental Delay Syndrome |
|
EEG with generalized slow activity, Abnormal speech discrimination, Abnormal repetitive mannerisms |
ORPHA:397612 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Hypothyroidism, Thyroiditis, Pituitary adenoma, Neoplasm of the adrena... |
ORPHA:733 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Failure to thrive, Ventricul... |
OMIM:300952 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... |
ORPHA:911 |
Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Hyperactivity, Hernia, Retinal dystrophy, Astigmatism, Failure to thrive, Amel... |
OMIM:617052 |
Cancer-Associated Retinopathy |
|
Pancreatic adenocarcinoma, Thymoma, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Weight loss, Nodular goiter, Thyroiditis, Abnormality of the submandibul... |
ORPHA:79078 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Choreoathetosis, Abnormal repeti... |
ORPHA:261197 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy, Ataxia |
OMIM:615558 |
2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Supernumerary nipple, Abnormal repetitive mannerisms, Compulsive b... |
ORPHA:1001 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Ambiguous genitalia, Hypoplasia of penis, Thyroid hypoplasia, Hypospadias, Cryptorchidism, Low-se... |
ORPHA:2166 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Conductive hearing impairment, Cerebral cortical atrophy, Optic atrophy, Ocular a... |
ORPHA:1606 |
3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Ataxia, Abnormal repetitive mannerisms, Abnormality of the oute... |
ORPHA:435638 |
Thyroid Ectopia |
|
Hypothyroidism, Ectopic thyroid, Abnormality of the thyroid gland |
ORPHA:95712 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration, Sensorineural hearing impairment |
OMIM:617236 |
Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter |
OMIM:616858 |
Immunodeficiency 17 |
|
T lymphocytopenia, Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Auto... |
OMIM:615607 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility, Recurrent otitis media |
OMIM:608647 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Macrotia, Cerebral cortical atrophy, Optic atrophy, Abnormal repetitive mannerisms, Ataxia, Cereb... |
ORPHA:496641 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Ataxia, Abnormal repetitive mannerisms, Low-set ears, Unsteady gait |
ORPHA:457279 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... |
OMIM:616959 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear |
ORPHA:261144 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Papillorenal Syndrome |
|
Morning glory anomaly, Sensorineural hearing impairment, Macular degeneration, Hypertension, Chor... |
OMIM:120330 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Thyroid carcinoma, Testicular seminoma, Multinodular goiter, Sertoli cell neopla... |
ORPHA:276399 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity |
OMIM:619467 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Paresthesia, Abnormal autonomic nervous system physiology, Impaired pain sensatio... |
ORPHA:3206 |
Say-Barber-Miller Syndrome |
|
Macrotia, Rod-cone dystrophy, Optic atrophy, Hypogonadism, Impaired neutrophil chemotaxis, Macula... |
ORPHA:3132 |
Prader-Willi Syndrome Due To Translocation |
|
Cerebral cortical atrophy, Head-banging, Decreased response to growth hormone stimulation test, A... |
ORPHA:177907 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Inability to walk, Retinal atrophy, Severe failure to thrive, Annular pancreas, Lo... |
ORPHA:97297 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Macrotia, Conductive hearing impairment, Cranial nerve compressi... |
ORPHA:2785 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... |
OMIM:300424 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Multinodular goiter |
OMIM:618373 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Retinal degeneration, Retinopathy |
OMIM:252600 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Diabetes insipidus, Hyperaldosteronism, Abnormal calcium-phosphate reg... |
ORPHA:534 |
Sandifer Syndrome |
|
Hematemesis, Abnormal head movements |
ORPHA:71272 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gait ataxia, Pineal cyst, Repetitive compulsive behavior, Recurrent otitis media, Abnormal repeti... |
ORPHA:513456 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, EEG abnormality, Repetitive compulsive behavior, Iris coloboma, Bilateral ... |
OMIM:619475 |
Tetrasomy 9P |
|
Glue ear, Pulmonary arterial hypertension, Absent gallbladder, Infertility, Raynaud phenomenon, A... |
ORPHA:3310 |
Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
Kniest Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative ... |
ORPHA:485 |
Cone-Rod Dystrophy 2 |
|
Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... |
OMIM:120970 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... |
OMIM:605549 |
Alström Syndrome |
|
Somatic sensory dysfunction, Cone/cone-rod dystrophy, Oligospermia, Decreased circulating T4 conc... |
ORPHA:64 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms |
ORPHA:98784 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hypoplasia of the retina, Optic atrophy, EEG abnormality, Retinal atrophy, Retinal degeneration, ... |
OMIM:253280 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Reduced progressive sperm motility, Chronic otitis media |
OMIM:619608 |
Mend Syndrome |
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Abnormal auditory evoked potentials, Failure to thrive, Cryptorchidism, Aortic valve stenosis, Lo... |
ORPHA:401973 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Gait ataxia, Hyperactivity, Dysdiadochokinesis, Optic atrophy, Impulsivity, Dysmetria, Dysphagia |
OMIM:610217 |
Vici Syndrome |
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Gray matter heterotopia, Penile hypospadias, Sensorineural hearing impairment, Ocular albinism, M... |
OMIM:242840 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... |
ORPHA:85167 |
Cone-Rod Dystrophy 10 |
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Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
Pierson Syndrome |
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Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Chorea, EEG with series of focal spikes, EEG abnormality, Choreoathetosis, Repetitive compulsive ... |
ORPHA:522077 |
Retinitis Pigmentosa 45 |
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Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:613767 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
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Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy |
OMIM:616722 |
46,Xx Sex Reversal 1 |
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Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Pallister-Hall Syndrome |
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Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, Hydrometrocolpos, Thyroid hypop... |
ORPHA:672 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Unicornuate uterus, Macrotia, Decreased response to growth hormone stimulation test, Ischemic str... |
OMIM:619503 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Gait ataxia, Failure to thrive, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:476126 |
Acute Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
46,Xx Sex Reversal 2 |
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Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Pancreatic cysts, Pulmonary insufficiency, Retinal degeneration, Bile duct proliferation, Pancrea... |
OMIM:208500 |
Nmda Receptor Encephalitis |
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Orthostatic hypotension, Chorea, Neoplasm of the thymus, Abnormal autonomic nervous system physio... |
ORPHA:217253 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Retinal coloboma, Abnormal optic disc morphology, Abnormal repetitive mannerisms, Optic nerve hyp... |
ORPHA:508498 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Retinal hemorrhage, Cerebral hemorrhage, Angioid streaks of the fundus, Macular degeneration, Ang... |
OMIM:177850 |
Coccidioidomycosis |
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Abnormal retinal morphology, Cerebral ischemia, Abnormality of the male genitalia, Vasculitis, Pe... |
ORPHA:228123 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Pancreatic cysts, Rod-cone dystrophy, Macular degeneration, Retinal dystrophy, Hypertension, Atte... |
OMIM:266920 |
Nephronophthisis 11 |
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Anisocoria, Retinal degeneration |
OMIM:613550 |
Wiedemann-Steiner Syndrome |
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Failure to thrive, Decreased response to growth hormone stimulation test, Low-set ears, Abnormal ... |
ORPHA:319182 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Hearing impairment, Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
Alport Syndrome |
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Sensorineural hearing impairment, Macular degeneration, Hypertension, Retinal flecks, Clitoral hy... |
ORPHA:63 |
Autosomal Dominant Optic Atrophy And Cataract |
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Optic atrophy, Cerulean cataract, Ataxia, Anterior subcapsular cataract, Posterior subcapsular ca... |
ORPHA:67036 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Conductive hearing impairment, Sensorineural hearing impairment, Retinopathy, EEG abnormality, Ab... |
ORPHA:353281 |
Bietti Crystalline Corneoretinal Dystrophy |
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Retinal degeneration, Chorioretinal atrophy |
OMIM:210370 |
Progressive Multifocal Leukoencephalopathy |
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Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells |
ORPHA:217260 |
Renal Cysts And Diabetes Syndrome |
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Pancreatic hypoplasia, Cerebral cortical atrophy, Atretic vas deferens, Bicornuate uterus, Reduce... |
OMIM:137920 |
Farber Disease |
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Failure to thrive, Macular degeneration, Brain atrophy, Cherry red spot of the macula |
ORPHA:333 |
Autosomal Dominant Polycystic Kidney Disease |
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Pancreatic cysts, Reduced sperm motility, Hypertension, Pituitary growth hormone cell adenoma |
ORPHA:730 |
Retinitis Pigmentosa 37 |
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Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Selective Igm Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-positive T cell... |
ORPHA:331235 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Repetitive compulsive behavior |
OMIM:607485 |
Schinzel-Giedion Syndrome |
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Central hypothyroidism, Infantile sensorineural hearing impairment, Cerebral cortical atrophy, Lo... |
ORPHA:798 |
Mowat-Wilson Syndrome |
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Conductive hearing impairment, Decreased body weight, Inability to walk, Iris coloboma, Septate v... |
ORPHA:2152 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Hypereosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, ... |
ORPHA:508533 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Inability to walk, EEG abnormality, Iris coloboma, Septate vagina, Uplifted earlobe, Posteriorly ... |
ORPHA:261537 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Brain atrophy, Hypsarrhythmia, Abnormal repetitive mannerisms, Low-set ears, Protruding ear |
ORPHA:447997 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Optic atrophy, Inability to walk, EEG abnormality, Iris coloboma, Septate vagina, Uplifted earlob... |
ORPHA:261552 |
Tuberous Sclerosis Complex |
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Parathyroid adenoma, Pancreatic endocrine tumor, Retinal hamartoma, Parathyroid hyperplasia, Repe... |
ORPHA:805 |
Birdshot Chorioretinopathy |
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Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Hydrocele testi... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Conductive hearing impairment, Sensorineural hearing impairment, EEG abnormality, Hydrocele testi... |
ORPHA:353277 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Knobloch Syndrome |
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Retinal detachment, Macular degeneration, Abnormal vitreous humor morphology, Vitreoretinopathy |
ORPHA:1571 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
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Low-set ears, Posteriorly rotated ears |
OMIM:619548 |