Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Decreased body weight, Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
Autism |
|
Motor stereotypy |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... |
OMIM:614322 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... |
ORPHA:98807 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Morm Syndrome |
|
Hyperactivity, Truncal obesity, Retinal dystrophy, Cataract, Retinal atrophy |
ORPHA:75858 |
Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Recurrent otitis media, Ob... |
OMIM:615993 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Chorea |
OMIM:611031 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Abnormal nervous system electrophysiology, Cerebral atrophy, Retinal degeneration, Myoclo... |
OMIM:204500 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Ataxia, Babinski sign, Truncal ataxia, Head tremor, Difficulty walking, Lower limb spasticity, Ab... |
ORPHA:320391 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cataract |
ORPHA:1397 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Cerebral atrophy, Retinal degeneration, Concentric hypertrophic cardiomyopath... |
OMIM:204200 |
Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Small for gestational... |
OMIM:275400 |
Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... |
OMIM:274600 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, EEG abnormality, Cerebral atrophy, Retinal degeneration, Macular degeneration, Myoclonus,... |
OMIM:256730 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Thyroid carcinoma, Hypoplasia of the cochlea, Hypothyro... |
ORPHA:705 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment, Failure to thrive, Retinal degeneration |
OMIM:238340 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Abnormal nervous system electrophysiology, Retinal degeneration, Dysmetria, M... |
OMIM:256731 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Cataract, Childhood-onset truncal obesity, Retinal dystrophy |
OMIM:610156 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Retinitis Pigmentosa Inversa With Deafness |
|
Sensorineural hearing impairment, Retinitis pigmentosa inversa, External genital hypoplasia, Rod-... |
OMIM:268010 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... |
OMIM:600791 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature |
OMIM:618160 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Hyperactivity |
ORPHA:356996 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Ravine Syndrome |
|
Failure to thrive, Ataxia, Decreased body weight, Atrophy/Degeneration affecting the brainstem, S... |
ORPHA:99852 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... |
ORPHA:251282 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Cataract, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
X-Linked Retinoschisis |
|
Cataract, Retinoschisis |
ORPHA:792 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cataract, Limb ataxia |
OMIM:617133 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Limb ataxia, Truncal ataxia, Head tremor, Difficulty walking, Type I diabetes mellitus, Unsteady ... |
ORPHA:412057 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
Liberfarb Syndrome |
|
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Opti... |
OMIM:618889 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased body weight, Hyperactivity |
OMIM:608747 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Ataxia, Myoclonus, Goiter, Slurred speech |
OMIM:274240 |
Fetal Iodine Deficiency Disorder |
|
Spastic diplegia, Hearing impairment, Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia |
OMIM:614063 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Euthyroid goiter, Myoclonus, Nonprogressive cerebellar ataxia, ... |
ORPHA:3327 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Oligospermia, Myocardial infarction, Azoospermia, Obesity... |
OMIM:615703 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, EEG... |
ORPHA:157941 |
Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Retinal degeneration, Abnormal mitoc... |
OMIM:300438 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Goiter, Secondary amenorrhea, Retinal dystrophy |
OMIM:617175 |
Developmental And Epileptic Encephalopathy 28 |
|
Retinal degeneration, Cerebral atrophy, Rigidity, Optic atrophy, Spasticity |
OMIM:616211 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Spastic gait, Ataxia, Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Impa... |
OMIM:604360 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Cry... |
OMIM:615982 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Abnormal nervous system electrophysiology, Retinal degeneration, Increased neuronal autofluoresce... |
OMIM:601780 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
Spondylometaphyseal Dysplasia, Axial |
|
Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility, Cone/cone-rod dystrophy, Optic ... |
OMIM:602271 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Retinal degeneration, Macular degeneration, Chorea, T... |
ORPHA:99 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Dilated cardiomyopathy, Hy... |
OMIM:615981 |
Brain-Lung-Thyroid Syndrome |
|
Ataxia, Chorea, Falls, Hypoparathyroidism, Intention tremor, Congenital hypothyroidism, Pulmonary... |
ORPHA:209905 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Diabetes And Deafness, Maternally Inherited |
|
Sensorineural hearing impairment, Type II diabetes mellitus, Retinal degeneration, Pigmentary ret... |
OMIM:520000 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia |
OMIM:618709 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Macular degeneration, Babinski sign, Pigmentary retinop... |
OMIM:164500 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia |
OMIM:619150 |
Congenital Hypothyroidism |
|
Abnormality of the thyroid gland, Thyroid dysgenesis, Arrhythmia, Anterior hypopituitarism, Hypot... |
ORPHA:442 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements |
ORPHA:71518 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Ataxia, Retinal degeneration, Decreased response to growth hormone stimulation test, Spasticity |
OMIM:225755 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract, Small for gestational age |
ORPHA:85288 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... |
ORPHA:190 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Ataxia, Cerebral atrophy, Brain atrophy, Retinal degeneration, Limb hypertonia... |
ORPHA:442835 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Ataxia, Retinal degeneration, Arrhythmia, Cone/cone-rod dystrop... |
OMIM:249270 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Spasticity |
OMIM:617393 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Fragile X Syndrome |
|
Periventricular heterotopia, Recurrent hand flapping, Macrotia, Macroorchidism, postpubertal, Abn... |
OMIM:300624 |
Mucolipidosis Iv |
|
Retinal degeneration, Babinski sign, Optic atrophy, Spastic tetraplegia, Cerebellar atrophy, Hype... |
OMIM:252650 |
Alg6-Cdg |
|
Failure to thrive, Ataxia, Retinal degeneration, Rod-cone dystrophy, Low-set ears, Puberty and go... |
ORPHA:79320 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Hearing impairment, Goiter, Infertility |
OMIM:617577 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy |
OMIM:300495 |
Episodic Ataxia Type 4 |
|
Frequent falls, Incoordination, Ataxia, Abnormal head movements |
ORPHA:79136 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... |
OMIM:613801 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Cerebral vasculitis, Myoclonus, Hypothyroidism, Has... |
ORPHA:83601 |
Fraxe Intellectual Disability |
|
Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Bangstad Syndrome |
|
Progressive cerebellar ataxia, Small for gestational age, Insulin-resistant diabetes mellitus, Pr... |
OMIM:210740 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Diffuse cerebellar atrophy, Type II diabetes mellitus, Progressive cerebellar ataxia, Limb ataxia... |
ORPHA:247815 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis, Simplified gyral... |
OMIM:619470 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Cochlear degeneration, Diabetes mellitus, Slowed slurred speech, Progressive sensorineura... |
OMIM:172500 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Cerebral atrophy, Poor fine motor coordination,... |
ORPHA:79264 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Impotence, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor,... |
ORPHA:99027 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
Macular Dystrophy, Retinal, 2 |
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Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Isolated Follicle Stimulating Hormone Deficiency |
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Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Peripheral Cone Dystrophy |
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Optic atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Peripheral retinal degeneration |
OMIM:609021 |
Obesity, Hyperphagia, And Developmental Delay |
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Motor stereotypy |
OMIM:613886 |
Guanidinoacetate Methyltransferase Deficiency |
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Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... |
ORPHA:382 |
Deafness-Hypogonadism Syndrome |
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Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Heteroch... |
ORPHA:90646 |
Exudative Vitreoretinopathy 7 |
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Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Familial Exudative Vitreoretinopathy |
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Vitreous hemorrhage, Reduced bone mineral density, Rhegmatogenous retinal detachment, Peripheral ... |
ORPHA:891 |
Cataract 21, Multiple Types |
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Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
Ceroid Lipofuscinosis, Neuronal, 10 |
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Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Rod-cone dystrophy, Rigidity, ... |
OMIM:610127 |
Retinitis Pigmentosa 9 |
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Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Deafness, Autosomal Recessive 9 |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Stickler Syndrome Type 2 |
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Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90654 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... |
OMIM:212550 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
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Decreased thyroid-stimulating hormone level, Hyperthyroidism, Periodic paralysis, Tachycardia, Tr... |
OMIM:613239 |
Cowden Syndrome 5 |
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Hydrocele testis, Hyperthyroidism, Ovarian cyst, Intention tremor, Hypothyroidism, Hearing impair... |
OMIM:615108 |
Familial Thyroid Dyshormonogenesis |
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Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... |
ORPHA:95716 |
Tsh-Secreting Pituitary Adenoma |
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Supraventricular arrhythmia, Impotence, Central adrenal insufficiency, Decreased fertility in mal... |
ORPHA:91347 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
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Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... |
ORPHA:457059 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... |
OMIM:618204 |
Cowden Syndrome 6 |
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Hydrocele testis, Hyperthyroidism, Ovarian cyst, Intention tremor, Hypothyroidism, Hearing impair... |
OMIM:615109 |
Jeavons Syndrome |
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EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
Bothnia Retinal Dystrophy |
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Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
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Motor stereotypy, Involuntary movements, Spasticity |
OMIM:617820 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
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Distal sensory impairment, Macular degeneration |
OMIM:619764 |
Spermatogenic Failure 30 |
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Azoospermia, Cryptozoospermia |
OMIM:618110 |
Mohr-Tranebjaerg Syndrome |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... |
OMIM:193230 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity |
ORPHA:436151 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
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Stereotypical hand wringing, Chorea |
OMIM:618760 |
Thyroid Dyshormonogenesis 3 |
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Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... |
ORPHA:95433 |
Hyperprolinemia, Type I |
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Motor stereotypy, Ataxia |
OMIM:239500 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
Macular Dystrophy, Vitelliform, 2 |
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Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Chromosome 3Q29 Deletion Syndrome |
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Motor stereotypy, Failure to thrive, Small for gestational age, Gait ataxia, Macrotia, Low-set ea... |
OMIM:609425 |
Usher Syndrome, Type Iv |
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Sensorineural hearing impairment, Retinal degeneration, Retinal atrophy, Bone spicule pigmentatio... |
OMIM:618144 |
Permanent Congenital Hypothyroidism |
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Thyroid dysgenesis, Goiter, Tetraplegia, Hypothyroidism |
ORPHA:226292 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
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Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
Graves Disease, Susceptibility To, 1 |
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Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... |
OMIM:275000 |
Retinitis Pigmentosa 48 |
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Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
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Hyperkinetic movements, Stereotypical hand wringing |
ORPHA:397933 |
Spermatogenic Failure 3 |
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Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
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Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
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Male infertility, Reduced sperm motility |
OMIM:619380 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... |
OMIM:125250 |
Hypocalcemia, Autosomal Dominant 2 |
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Postnatal growth retardation |
OMIM:615361 |
Adult Krabbe Disease |
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Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, EEG abnormality, Hoffmann sign... |
ORPHA:206448 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Growth Retardation, Small And Puffy Hands And Feet, And Eczema |
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Postnatal growth retardation, Intrauterine growth retardation |
OMIM:233810 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Retinitis Pigmentosa 70 |
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Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Macular Degeneration, Age-Related, 3 |
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Decreased nerve conduction velocity, Macular degeneration, Distal sensory impairment, Choroidal n... |
OMIM:608895 |
Hsd10 Disease, Infantile Type |
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Loss of ambulation, Cerebral atrophy, Retinal degeneration, Poor coordination, Rod-cone dystrophy... |
ORPHA:391428 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Sensorineural hearing impairment, Ataxia, Cerebral atrophy, Brain atrophy, Retinal degeneration, ... |
OMIM:619260 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
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Hyperthyroidism, Periodic paralysis, Palpitations, Tachycardia, Weight loss, Goiter |
OMIM:188580 |
Huntington Disease-Like 3 |
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Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... |
ORPHA:157946 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Motor stereotypy, Babinski sign, Spasticity |
OMIM:612069 |
Macular Degeneration, Early-Onset |
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Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
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Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
Microphthalmia, Isolated 5 |
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Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Motor stereotypy, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Inability to wal... |
ORPHA:168491 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
Maffucci Syndrome |
|
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Cerebral palsy, Neoplasm of the adrenal... |
ORPHA:163634 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone |
OMIM:188570 |
Thyroid Cancer, Nonmedullary, 1 |
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Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma |
OMIM:188550 |
Exudative Vitreoretinopathy 4 |
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Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:601813 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration |
OMIM:618195 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
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Ataxia, Macular degeneration |
ORPHA:85334 |
Familial Male-Limited Precocious Puberty |
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Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Low-set ears, Congenital stationary night blindness, Cryptorc... |
ORPHA:8 |
Flynn-Aird Syndrome |
|
Ataxia, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Cataract, Increased bon... |
OMIM:136300 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements |
OMIM:618218 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Failure to thrive, Cerebral atrophy, Stereotypical hand wringing, Spasticity, Hypsarrhythmia |
ORPHA:500545 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity |
OMIM:300928 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
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Optic atrophy, Cholelithiasis, Ataxia, Retinal degeneration |
OMIM:214980 |
Cowden Syndrome 1 |
|
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Intention tremor, Hypothyroidism, Hearing impair... |
OMIM:158350 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
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Motor stereotypy, Cerebral atrophy, EEG with focal epileptiform discharges, Chorea, EEG with gene... |
ORPHA:88616 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Failure to thrive, Cataract, Arthrogryposis multiplex congenita, Small for gestational age |
OMIM:212540 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Precocious puberty, Inability to walk, Hypsarrhythmia, Macrotia, Si... |
OMIM:619877 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy |
OMIM:616171 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter |
ORPHA:319487 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment, Inguinal hernia |
OMIM:157150 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Senior-Loken Syndrome |
|
Ataxia, Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrop... |
ORPHA:3156 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Lead Poisoning |
|
Infertility, Poor gross motor coordination, Decreased male libido, Poor fine motor coordination, ... |
ORPHA:330015 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Decreased response to growth hormone stimulation test, Micropenis, Hyperkinetic... |
ORPHA:457240 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Decreased body weight, Inability to walk, Limb ataxia... |
OMIM:617695 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy, Motor stereotypy, Cerebral atrophy, Cerebellar atrophy |
OMIM:619690 |
Immunodeficiency 48 |
|
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial diplegia, Ataxia, Tremor, Cogwheel rigidity, Reduced left ventricular ejection fraction, A... |
ORPHA:254892 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Graves disease, Sinus tachycardia, Increased circulating free T3, Palpitations... |
ORPHA:525731 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Large earlobe, Sensorineural hearing impairment, Macular degeneration |
OMIM:612948 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Oculorenocerebellar Syndrome |
|
Spastic diplegia, Choreoathetosis, Retinal degeneration |
OMIM:257970 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Sensorineural hearing impairment, Hypertonia, Retinal degeneration, Opisthotonus, Hypertrophic ca... |
OMIM:616896 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Cryptorchidism, Cerebral atrophy, Arrhythmia, Cardiogenic shock, Shuffli... |
ORPHA:276432 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Gait disturbance, Cataract, Tip-toe gait, Increased adipose tissue |
OMIM:617404 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Bardet-Biedl Syndrome 1 |
|
Gait imbalance, Ataxia, Retinal degeneration, Attenuation of retinal blood vessels, Retinal dystr... |
OMIM:209900 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity |
OMIM:618917 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... |
OMIM:251270 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Rod-cone dystrophy, Poor coordination, Micropenis, Macular atrophy, Cone/co... |
OMIM:615994 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Blepharospasm, Retinal degeneration, Chorea, Cogwheel rigidity, Diabetes mel... |
OMIM:604290 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Weight loss, Nodular goiter, Goiter, Vocal cord paralysis |
ORPHA:142 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Intention tremor, Ankle clonus, Macular de... |
ORPHA:284289 |
Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Paresthesia, Goiter |
OMIM:255900 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Refsum Disease, Classic |
|
Sensorineural hearing impairment, Ataxia, Retinal degeneration, Rod-cone dystrophy, Arrhythmia, S... |
OMIM:266500 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... |
OMIM:619092 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Non-medullary thyroid carcinoma |
OMIM:616534 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec... |
ORPHA:424 |
Leber Congenital Amaurosis 8 |
|
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... |
OMIM:613835 |
Foxg1 Syndrome |
|
Motor stereotypy, Decreased body weight, Inability to walk, Myoclonus, Hyperkinetic movements, St... |
ORPHA:561854 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria |
OMIM:618090 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Goiter, Papillary thyroid carcinoma |
ORPHA:97290 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Abnormal pancreas morphology, Blepharospasm, Retinal degeneration, Limb atax... |
ORPHA:48818 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... |
OMIM:616648 |
48,Xxyy Syndrome |
|
Motor stereotypy, Infertility, Ataxia, Type II diabetes mellitus, Hypoplasia of penis, Hypergonad... |
ORPHA:10 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:613731 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... |
ORPHA:562 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells |
OMIM:312863 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Hypergonadotropic hypogonadism, Intention tremor, Abnormal motor neuron morphology, ... |
OMIM:613724 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Cryptorchidism, Small for gestational age, Cerebral palsy, Spastici... |
ORPHA:352490 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
Smith-Magenis Syndrome |
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Motor stereotypy, Abnormality of the thyroid gland, EEG abnormality, Increased body weight, Retin... |
OMIM:182290 |
Growth Hormone Deficiency, Isolated Partial |
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Postnatal growth retardation, Short stature |
OMIM:615925 |
Cataract 9, Multiple Types |
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Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Glutaric Aciduria Iii |
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Failure to thrive, Goiter, Hypertension, Hyperthyroidism |
OMIM:231690 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Motor stereotypy, Myoclonus, Babinski sign, Rigidity |
OMIM:600795 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
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Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... |
ORPHA:231144 |
Charcot-Marie-Tooth Disease Type 1F |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
Retinal Dystrophy And Obesity |
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Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... |
OMIM:616188 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Motor stereotypy, Inability to walk, EEG abnormality, Brain atrophy, Tremor, Spasticity, Low-set ... |
OMIM:618718 |
Pyruvate Dehydrogenase E2 Deficiency |
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Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements |
OMIM:245348 |
Alstrom Syndrome |
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Hyperinsulinemia, Congestive heart failure, Decreased response to growth hormone stimulation test... |
OMIM:203800 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
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Motor stereotypy, Cerebral cortical atrophy, Babinski sign, Spastic dysarthria, Difficulty walkin... |
ORPHA:280763 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... |
ORPHA:1473 |
Chromosome Xq21 Deletion Syndrome |
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Conductive hearing impairment, Choroideremia, Chorioretinal atrophy, Incomplete partition of the ... |
OMIM:303110 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... |
ORPHA:226313 |
Rhabdomyosarcoma, Embryonal, 2 |
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Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter |
OMIM:180295 |
Central Areolar Choroidal Dystrophy |
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Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Optic atrophy, Cataract, Retinal dysplasia, Flexion contracture |
OMIM:613154 |
Usher Syndrome Type 1 |
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Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Iri... |
ORPHA:231169 |
Exudative Vitreoretinopathy 1 |
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Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... |
OMIM:133780 |
Xq21 Microdeletion Syndrome |
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Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Choroi... |
ORPHA:1435 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
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Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia |
OMIM:617173 |
Leber Congenital Amaurosis 9 |
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Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Achondrogenesis Type 2 |
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Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, R... |
ORPHA:93296 |
Familial Gestational Hyperthyroidism |
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Hyperthyroidism, Hand tremor, Activating thyroid-stimulating hormone receptor defect, Weight loss... |
ORPHA:99819 |
8p23.1 deletion syndrome |
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Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
Central Retinal Vein Occlusion |
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Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Charcot-Marie-Tooth Disease, Type 4C |
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Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa... |
OMIM:601596 |
Spinocerebellar Ataxia 32 |
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Infertility, Testicular atrophy, Ataxia, Cerebellar atrophy, Azoospermia |
OMIM:613909 |
Ciliary Dyskinesia, Primary, 41 |
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Infertility, Immotile sperm, Recurrent otitis media |
OMIM:618449 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Autism, Susceptibility To, 3 |
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Motor stereotypy |
OMIM:608049 |
Retinitis Pigmentosa 13 |
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Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Cone-Rod Dystrophy 11 |
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Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
Spinocerebellar Ataxia Type 32 |
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Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia |
ORPHA:276183 |
Spastic Paraplegia 15, Autosomal Recessive |
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Ataxia, Retinal degeneration, Macular degeneration, Babinski sign, Spastic paraplegia, Paraplegia... |
OMIM:270700 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Ataxia, Hyperactivity |
OMIM:617113 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
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Failure to thrive, Iris coloboma, Cataract, Elbow flexion contracture, Knee flexion contracture |
ORPHA:171860 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Ataxia, Akinesia, Abnormal autonomic nervous system physiology, Resting tremor, Intention tremor,... |
ORPHA:247234 |
Branchiootorenal Syndrome 1 |
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Sensorineural hearing impairment, Conductive hearing impairment, Euthyroid goiter, Microtia, Dila... |
OMIM:113650 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Optic atrophy, Failure to thrive, Hyperactivity |
OMIM:274270 |
New-Onset Refractory Status Epilepticus |
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EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... |
ORPHA:363558 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
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Motor stereotypy, Abnormal pinna morphology, Cerebral cortical atrophy, Ataxia, Small for gestati... |
OMIM:614104 |
Exfoliation Syndrome |
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Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Leber Congenital Amaurosis 1 |
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Sensorineural hearing impairment, Attenuation of retinal blood vessels, Pigmentary retinopathy, F... |
OMIM:204000 |
Pick Disease Of Brain |
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Motor stereotypy |
OMIM:172700 |
Best Vitelliform Macular Dystrophy |
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Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Multiple Endocrine Neoplasia Type 1 |
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Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Melena, Impotence, Int... |
ORPHA:652 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism |
OMIM:619927 |
Peroxisome Biogenesis Disorder 8B |
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Failure to thrive, Ataxia, Dysmetria, Retinal dystrophy, Optic atrophy, Cataract |
OMIM:614877 |
Exudative Vitreoretinopathy 2, X-Linked |
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Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... |
OMIM:305390 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Motor stereotypy, Speech apraxia |
OMIM:613670 |
Intellectual Developmental Disorder, X-Linked 104 |
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Optic atrophy, Ataxia, Hyperactivity |
OMIM:300983 |
Familial Drusen |
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Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Failure to thrive, Abnormality of the ear, EEG abnormality, Oromotor apraxia, Hypothyroidism, Hyp... |
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