| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration, Amblyopia, Scoliosis, Decreased body weight |
OMIM:616311 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... |
ORPHA:59181 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Bietti Crystalline Dystrophy |
|
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... |
ORPHA:41751 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Psychomotor deterioration, Blindness, Parkinsonism, Increased neuronal autofluorescent lipopigmen... |
OMIM:204200 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Blindness, Ataxia, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary r... |
OMIM:610951 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Psychomotor deterioration, Blindness, Ataxia, Increased neuronal autofluorescent lipopigment, Opt... |
OMIM:256730 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Degeneration of the lateral corticospinal tracts, Impaired distal ... |
OMIM:604360 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... |
OMIM:613750 |
| Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... |
ORPHA:85128 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... |
OMIM:616544 |
| Choroideremia |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... |
OMIM:303100 |
| Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Optic disc hypoplasia, Kyphoscoliosis, Infantile spasms, Short st... |
ORPHA:561854 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... |
OMIM:600138 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
| Immunodeficiency 66 |
|
Defective T cell proliferation, Sepsis |
OMIM:618847 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... |
OMIM:204500 |
| Retinitis Pigmentosa 42 |
|
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... |
OMIM:612943 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Generalized myoclonic-atonic seizure, I... |
OMIM:619701 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... |
ORPHA:275864 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Short stature, Dysphagia, G... |
OMIM:617862 |
| Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Impaired pain sensation, Impaired distal vibration sensation, Optic atrophy, R... |
OMIM:618511 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Scoliosis, Generalize... |
OMIM:616540 |
| Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... |
OMIM:620342 |
| Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment |
OMIM:600110 |
| Macular Dystrophy, Patterned, 1 |
|
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:169150 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Optic atrophy, Gait ataxia, Choreoathetosis, Astrocytosis, Gait disturbance, Myoclonus, A... |
ORPHA:225154 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... |
OMIM:180210 |
| Immunodeficiency 102 |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Aut... |
OMIM:301082 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Limb ataxia, Gait atax... |
OMIM:614322 |
| Hemimegalencephaly |
|
Epileptic spasm, Ventriculomegaly, Optic atrophy, Focal motor seizure, Focal tonic seizure, Seizu... |
ORPHA:99802 |
| Macular Dystrophy, Vitelliform, 5 |
|
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... |
OMIM:616152 |
| Retinopathy Of Prematurity |
|
Tractional retinal detachment, Blindness, Small for gestational age, Retinal arteriolar tortuosit... |
ORPHA:90050 |
| Sandhoff Disease |
|
Hepatomegaly, Blindness, Ataxia, Kyphosis, Cherry red spot of the macula, Failure to thrive |
ORPHA:796 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Astrocytosis, Inappropriate behavior, Disinhibition, Myoclonus... |
OMIM:600795 |
| Macular Dystrophy, Patterned, 2 |
|
Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation |
OMIM:608970 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... |
OMIM:613731 |
| Optic Atrophy 9 |
|
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... |
OMIM:616289 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
| Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... |
OMIM:608051 |
| Developmental And Epileptic Encephalopathy 59 |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Inability to walk, Self-... |
OMIM:617904 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Blindness, Ataxia, Retinal pigment epithelial mottling, Dementia, Corticospinal tract atrophy, Ro... |
OMIM:551500 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... |
OMIM:618986 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib... |
ORPHA:33355 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... |
OMIM:605670 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Motor deterioration, Progressive visual loss, Ret... |
OMIM:601780 |
| Narp Syndrome |
|
Optic disc pallor, Abnormal visual field test, Blindness, Ataxia, Constriction of peripheral visu... |
ORPHA:644 |
| Macular Dystrophy, Patterned, 3 |
|
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmetria, Ataxia, Clumsiness, My... |
ORPHA:79263 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Blindness, Generalized dystonia, Frequent falls, Inability to walk, Spasticity... |
ORPHA:216866 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Myopia, Kyphoscoliosis, Short neck, Retinal dysplasia, Failure to thrive, Abnormal vertebral morp... |
ORPHA:96183 |
| Retinitis Pigmentosa 71 |
|
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Scoli... |
OMIM:616394 |
| Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... |
OMIM:617406 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Loss of ambulation, Abnormal repetitive mannerisms, Retinal degeneration, Large central visual fi... |
ORPHA:79264 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Cerebral atrophy, Seizure, Lateral ventricle dilatation, In... |
OMIM:221770 |
| Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... |
OMIM:603649 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, Low frustration tolerance, Abnormal repetit... |
ORPHA:168491 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... |
OMIM:136550 |
| Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantil... |
ORPHA:599373 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure... |
ORPHA:330050 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... |
ORPHA:97341 |
| Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... |
OMIM:204100 |
| Macular Dystrophy, Vitelliform, 2 |
|
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... |
OMIM:153700 |
| Retinitis Pigmentosa 29 |
|
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612165 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Inability to... |
ORPHA:79243 |
| L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Optic atrophy, Seizure, Gliosis, Global brai... |
OMIM:236792 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn... |
OMIM:608636 |
| Dystonia 31 |
|
Generalized dystonia, Parkinsonism, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Diffi... |
OMIM:619565 |
| Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Bilateral tonic-clonic seizure, Pseudobulbar paralysis, Status epilepticus, Sc... |
OMIM:617082 |
| Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... |
OMIM:617781 |
| Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... |
OMIM:164500 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... |
OMIM:614868 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Inability to walk, Dysplastic corpus callosum, Unsteady g... |
OMIM:620317 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss |
OMIM:615439 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... |
OMIM:614181 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
| N-Acetylaspartate Deficiency |
|
Inguinal hernia, Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Seizure, Decreas... |
OMIM:614063 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Hydrocephalus, Seizure, Attention deficit hyperactivity d... |
OMIM:618709 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... |
OMIM:304020 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... |
OMIM:608850 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Photophobia, Truncal obes... |
ORPHA:75858 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... |
ORPHA:206443 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Generalized myoclonic seizure, Agenesis of corpus callosum, Macular degeneration, Ataxia |
ORPHA:85334 |
| Behr Syndrome |
|
Cerebellar atrophy, Blindness, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Hypop... |
OMIM:210000 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decr... |
ORPHA:169154 |
| Sorsby Fundus Dystrophy |
|
Macular dystrophy, Blindness, Chorioretinal atrophy |
OMIM:136900 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Aggressive behavior, Chor... |
OMIM:607136 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... |
OMIM:607921 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Progressive neurologic deterioration, Aggressive behavior, Visual loss, Optic atrop... |
OMIM:300438 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular dystrophy, Blindness, Reduced visual acuity |
OMIM:601553 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Cerebral visual impairment, Tremor, Abnorma... |
ORPHA:52368 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Progressive neurologic deterioration, Dysplastic corpus callosum, Babinski si... |
OMIM:252650 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambul... |
ORPHA:157850 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
| Huntington Disease-Like 1 |
|
Chorea, Dysmetria, Gait ataxia, Simultanapraxia, Clumsiness, Depression, Gait disturbance, Cognit... |
ORPHA:157941 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Bilateral tonic-clonic seizure, Status epilepticus, Scoliosis, Atrophy/Degeneration affecting the... |
OMIM:620200 |
| Neonatal Alloimmune Neutropenia |
|
Sepsis, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:617123 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Kyphoscoliosis, Cryptorc... |
OMIM:214150 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... |
ORPHA:276 |
| Retinal Capillary Malformation |
|
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... |
ORPHA:71213 |
| Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Ph... |
OMIM:204000 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Optic atrophy, Spastic diplegia, Abnormal repetitive mannerisms, Visual impair... |
OMIM:617830 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors |
OMIM:301107 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Blindness, Incoordination, Ataxia, Dystonia, Visual loss, Optic atrophy, Dysmetria, Gait ataxia, ... |
OMIM:601338 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Infantile spasms, Tonic seizure, Focal-onset seizure, Cerebral atrophy, Seizure, Scoliosis, Diffi... |
OMIM:617393 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... |
OMIM:604393 |
| Mohr-Tranebjaerg Syndrome |
|
Myopia, Constriction of peripheral visual field, Dystonia, Cerebral visual impairment, Tremor, Re... |
OMIM:304700 |
| Macular Dystrophy, Vitelliform, 3 |
|
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... |
OMIM:608161 |
| Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Se... |
OMIM:619970 |
| Retinitis Pigmentosa 35 |
|
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia |
OMIM:610282 |
| Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Aggressive behavior, Ataxia, Slender build, Bilateral tonic-clonic seizure |
OMIM:617709 |
| Cln3 Disease |
|
Cerebellar atrophy, Blindness, Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, ... |
ORPHA:228346 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... |
OMIM:609913 |
| Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili... |
OMIM:616346 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Leber Congenital Amaurosis 12 |
|
Congenital blindness, Abnormality of macular pigmentation |
OMIM:610612 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:610359 |
| Lissencephaly 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Seizure, Agenesis of corpus callosum, Ventriculomegaly, G... |
OMIM:611603 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait, Blurred vision |
OMIM:160120 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment |
OMIM:126600 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Focal-onset... |
OMIM:615362 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:601718 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy, Visual impairment |
OMIM:613827 |
| Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Recurrent upper respiratory tract infections, Sepsis |
OMIM:619599 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onse... |
OMIM:611726 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Kyphoscoliosis, Aggressive behavior, Visual loss, Optic atrophy, Scoliosis, Dysphagia |
OMIM:614707 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Short stature, Aggressive behavior, Inability to walk, Attention ... |
OMIM:619639 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Inguinal hernia, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressive beha... |
ORPHA:485350 |
| Macular Dystrophy, Vitelliform, 1 |
|
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... |
OMIM:153840 |
| Senior-Loken Syndrome 6 |
|
Rod-cone dystrophy, Reduced visual acuity, Visual impairment |
OMIM:610189 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Corpus callosum atrophy, Seizure, Gliosis, Gait disturbance, Shuffli... |
OMIM:221820 |
| Best Vitelliform Macular Dystrophy |
|
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... |
ORPHA:1243 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Retinal dystrophy, Short stature, ... |
OMIM:616756 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Blindness, Ring scotoma, Ataxia, Nyctalopia, Optic atrop... |
OMIM:609033 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... |
OMIM:617475 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:245570 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... |
OMIM:180100 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Ataxia, Cryptorchidism, Growth delay, Seizure, Pigmentary retinopathy,... |
ORPHA:3363 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:615922 |
| Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... |
OMIM:615725 |
| Intellectual Developmental Disorder, X-Linked 19 |
|
Small for gestational age, Scoliosis, Kyphoscoliosis |
OMIM:300844 |
| Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Blindness, Optic atrophy, Spasticity, Severely reduced visual acuity |
OMIM:309555 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Cerebellar atrophy, Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Gait a... |
ORPHA:488635 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization, Reduced visual acuity |
OMIM:616118 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... |
ORPHA:99947 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... |
OMIM:619007 |
| Cone-Rod Dystrophy 12 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... |
OMIM:612657 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Focal motor status epilepticus, Aggressive behavior, Focal-onset seizure, Chorea, Seizure... |
OMIM:619150 |
| Achromatopsia |
|
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... |
ORPHA:49382 |
| Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
| Leber Hereditary Optic Neuropathy, Autosomal Recessive 1 |
|
Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul... |
OMIM:619382 |
| Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormality of neutrophi... |
ORPHA:229717 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... |
OMIM:180020 |
| Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:300088 |
| Retinitis Pigmentosa 2 |
|
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... |
OMIM:312600 |
| Nephronophthisis 15 |
|
Elevated hepatic transaminase, Blindness, Obesity, Retinal degeneration |
OMIM:614845 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks, Reduced visual acuity |
OMIM:603786 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Progressive spasticity, Hypothalamic atrophy, Retinal degeneration, Ataxia, Parkinsonism, Overwei... |
ORPHA:2822 |
| Developmental And Epileptic Encephalopathy 14 |
|
Focal autonomic seizure, Focal motor seizure, Gliosis, Status epilepticus, Neuronal loss in centr... |
OMIM:614959 |
| Retinitis Pigmentosa 78 |
|
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... |
OMIM:617433 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Central scotoma, Impaired distal vibration sensation, Optic atrophy, Reduc... |
OMIM:615035 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu... |
OMIM:301020 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
| Cone-Rod Dystrophy 15 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... |
OMIM:613660 |
| Bullous Impetigo |
|
Recurrent bacterial skin infections, Sepsis |
ORPHA:36237 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-... |
OMIM:618917 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... |
OMIM:612712 |
| Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Oral-... |
ORPHA:208447 |
| Bardet-Biedl Syndrome 16 |
|
Reduced visual acuity, Obesity, Cognitive impairment, Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Scotoma, Tremor, Optic atrophy, Reduced visual acuity, Abnormality of extrapyr... |
OMIM:165300 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... |
ORPHA:215 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Inability to walk, Seizure, Gait disturbance, Scoliosis, Joint contracture |
OMIM:611225 |
| Hyperleucine-Isoleucinemia |
|
Seizure, Failure to thrive, Retinal degeneration |
OMIM:238340 |
| Newfoundland Rod-Cone Dystrophy |
|
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect |
OMIM:607476 |
| Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Rec... |
OMIM:226990 |
| Retinitis Pigmentosa 7 |
|
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... |
OMIM:608133 |
| Retinitis Pigmentosa 54 |
|
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... |
OMIM:613428 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:617871 |
| Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Astrocytosis, Seizure, Difficulty walking, Slender build, Ventriculomegaly |
OMIM:611087 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Blindness, Chorea, Dementia, Gait disturbance, Dysphagia, Emotional lability |
OMIM:607674 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonus, Neuronal loss in central nervous system |
ORPHA:204 |
| Retinitis Pigmentosa 47 |
|
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:613758 |
| Huntington Disease |
|
Cerebellar atrophy, Chorea, Gait ataxia, Seizure, Gliosis, Neuronal loss in central nervous system |
OMIM:143100 |
| Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Kyphoscoliosis, Impaired pain sensatio... |
ORPHA:3115 |
| Choroideremia |
|
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... |
ORPHA:180 |
| Retinitis Pigmentosa 20 |
|
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... |
OMIM:613794 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cerebral atrop... |
OMIM:618497 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... |
OMIM:609021 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... |
OMIM:613862 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Nyctalop... |
ORPHA:79301 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:611040 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Agitation, Status epilepticus, Abnormal repe... |
OMIM:617171 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... |
OMIM:616230 |
| Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
| Inherited Creutzfeldt-Jakob Disease |
|
Chorea, Astrocytosis, Gait ataxia, Progressive cerebellar ataxia, Seizure, Central nervous system... |
ORPHA:282166 |
| Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... |
OMIM:300029 |
| Severe Canavan Disease |
|
Blindness, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Optic atrophy, Irritabili... |
ORPHA:314911 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Paresthesia, Spontaneous pain sensation |
ORPHA:101081 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:617460 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Restlessness, Bilateral tonic-clonic seizure, Increased neuronal autofluoresc... |
OMIM:610003 |
| Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... |
OMIM:620145 |
| Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Constriction of peripheral visual... |
OMIM:613861 |
| Dravet Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
| Infantile Neuroaxonal Dystrophy |
|
Abnormal pyramidal sign, Progressive spasticity, Hyperactivity, Ataxia, Gait disturbance, Abnorma... |
ORPHA:35069 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb... |
OMIM:308230 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:22 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Unsteady gait, Optic atrophy, Secondary amenorrhea, Primary amen... |
OMIM:603896 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... |
OMIM:617879 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Babinski sign, Optic atr... |
ORPHA:98890 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Impulsivity, Myoclonic s... |
OMIM:617113 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Ataxia, Short stature, Unsteady gait, Limb ataxia, Dysmetria, Gait atax... |
OMIM:213200 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Myoclonic... |
OMIM:162350 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration, Reduced visual acuity |
OMIM:300834 |
| Landau-Kleffner Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seiz... |
ORPHA:98818 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Visual loss, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrap... |
ORPHA:79262 |
| Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Optic atrophy, Choreoathetosis, Status epilepticus, Myoclonus, Fa... |
OMIM:609056 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age, Seizure, Bruxism |
ORPHA:356996 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Decreased circulating a... |
OMIM:615122 |
| Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin... |
OMIM:609923 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... |
OMIM:619470 |
| Cach Syndrome |
|
Cerebellar atrophy, Blindness, Progressive neurologic deterioration, Atrophy/Degeneration affecti... |
ORPHA:135 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Bilateral tonic-clonic seizure, Retinal dystrophy, Short stature, Absent p... |
ORPHA:464282 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Cerebellar atrophy, Myoclonic seizure, Seizure, Gliosis, Status ep... |
ORPHA:168486 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Transient unilateral blurr... |
OMIM:141500 |
| Flynn-Aird Syndrome |
|
Myopia, Rod-cone dystrophy, Ataxia, Kyphoscoliosis |
OMIM:136300 |
| Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... |
OMIM:616079 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up... |
OMIM:616100 |
| Retinitis Pigmentosa 18 |
|
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... |
OMIM:601414 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Blindness, Dystonia, Diffuse cerebral atrophy, Spastic tetraparesis, Visual loss, P... |
ORPHA:391428 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons... |
OMIM:204300 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Abnormal repetitive mannerisms, Seizure, Hyperactivity, Short stature |
OMIM:300271 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... |
OMIM:614180 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Nyctalopia, Abnormal... |
ORPHA:96 |
| Ck Syndrome |
|
Hyperactivity, Lumbar hyperlordosis, Kyphoscoliosis, Aggressive behavior, High palate, Slender build |
ORPHA:251383 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
| Wagner Vitreoretinopathy |
|
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,... |
OMIM:143200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
| Polymicrogyria, Bilateral Temporooccipital |
|
Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Status epilepticus, Focal i... |
OMIM:612691 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration, Distal sensory impairment |
OMIM:619764 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... |
OMIM:613194 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Retinitis Pigmentosa 69 |
|
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... |
OMIM:615780 |
| Autism, Susceptibility To, X-Linked 3 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:300425 |
| Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Late... |
ORPHA:101071 |
| Diastrophic Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscoliosis, Cleft palate,... |
OMIM:222600 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Optic atrophy, Reduced visual acuity, Abnormality of extrapyramida... |
OMIM:258501 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Cdkl5-Deficiency Disorder |
|
Infantile spasms, Impaired pain sensation, Focal-onset seizure, Kyphosis, Growth delay, Gait dist... |
ORPHA:505652 |
| Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... |
ORPHA:65683 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Scoli... |
OMIM:614018 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... |
OMIM:600852 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Gait disturbance, Abnormality of e... |
OMIM:614561 |
| Infantile Cerebellar-Retinal Degeneration |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Retinal dystrophy, Focal-onset seizur... |
OMIM:614559 |
| Developmental And Epileptic Encephalopathy 98 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ons... |
OMIM:619605 |
| Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia |
OMIM:616502 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... |
OMIM:618889 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Short stature, Abnormal repetitive mannerisms, Inability to walk, Limb ... |
OMIM:617695 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Partial agenesis of the co... |
OMIM:619302 |
| Macular Dystrophy, Retinal, 4 |
|
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... |
OMIM:619977 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:618144 |
| Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Gene... |
OMIM:618141 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect |
ORPHA:1872 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Kyphoscoliosis, Elev... |
OMIM:614727 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I... |
OMIM:615491 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Seizure, Congenital contracture, Gliosis, Myoclonus, Dysphagia |
OMIM:225753 |
| Immunodeficiency 108 With Autoinflammation |
|
Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis |
OMIM:260570 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Autism |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:607373 |
| Lissencephaly 4 |
|
Short stature, Growth delay, Seizure, Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... |
OMIM:600977 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Falls, M... |
ORPHA:2382 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Hippocampal sclerosis, Focal sensory seizure with visual features... |
OMIM:615400 |
| Krabbe Disease |
|
Abnormal flash visual evoked potentials, Blindness, Diffuse cerebral atrophy, Decreased nerve con... |
OMIM:245200 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Retinal degeneration |
OMIM:251700 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:616187 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Overweight, Self-mutilation, Seizure, Gliosis, Gai... |
ORPHA:457240 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Sepsis, Anemia, Neutropenia |
ORPHA:289916 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Kyphosis, Flexion contracture, Optic atrophy,... |
OMIM:618237 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Inability to wa... |
OMIM:618090 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi... |
OMIM:610127 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, Status epilepticus, Generalized my... |
OMIM:266100 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Blindness, Ataxia, Spastic tetraparesis, Babinski sign, Progressive psychomotor deterioration, Re... |
ORPHA:3208 |
| Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Obesity, High myopia,... |
OMIM:613464 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebellar atrophy, Optic disc pallor, Thoracic scoliosis, Short stature, Macular atrophy, Partia... |
OMIM:616171 |
| Neuroectodermal Melanolysosomal Disease |
|
Myopia, Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Abnorm... |
ORPHA:33445 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Ataxia, Kyphoscoliosis |
OMIM:619099 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus |
OMIM:603204 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b... |
OMIM:612840 |
| Mepan Syndrome |
|
Limb dystonia, Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Optic ... |
ORPHA:508093 |
| Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... |
OMIM:610356 |
| Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Aggressive behavior, Typical absence seizure, Un... |
OMIM:616409 |
| Retinitis Pigmentosa 63 |
|
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision |
OMIM:614494 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Abnormality of p... |
ORPHA:1947 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... |
OMIM:180104 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Reduced visual acuity, ... |
OMIM:270700 |
| Ichthyosis--Cheek--Eyebrow Syndrome |
|
High palate, Kyphoscoliosis |
OMIM:146720 |
| Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... |
OMIM:613341 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Distal sensory impairment, Degeneration of anterior horn cells, Gliosis, Gai... |
OMIM:604484 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Aggressive behavior, Gait ataxia, Gliosis, Gait disturbance, ... |
OMIM:618369 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Seizure, Scoliosis |
OMIM:300518 |
| Immunodeficiency 68 |
|
Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| C1Q Deficiency 2 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Sepsis, Anemia |
OMIM:620321 |
| Chromosome Xq21 Deletion Syndrome |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... |
OMIM:303110 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... |
OMIM:616188 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Babinski sign, Disinhibition, Dysphagia, ... |
OMIM:612069 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Truncal obes... |
OMIM:300957 |
| Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Focal hemiclonic seizure, Focal-onset seizur... |
ORPHA:725 |
| Retinal Degeneration And Epilepsy |
|
Seizure, Retinal degeneration |
OMIM:267740 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Kyphoscoliosis, Aggressive behavior |
OMIM:615541 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Short stature, Cryptorchidism, Cerebral atrophy, Seizure, Lateral vent... |
OMIM:619847 |
| Focal Cortical Dysplasia, Type Ii |
|
Focal impaired awareness seizure, Astrocytosis |
OMIM:607341 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... |
ORPHA:436159 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Myoclonic seizure, Agenesi... |
OMIM:619301 |
| Alg13-Cdg |
|
Global brain atrophy, Abnormal lateral ventricle morphology, Infantile spasms, Decreased body weight |
ORPHA:324422 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... |
OMIM:608194 |
| Optic Atrophy 1 |
|
Ataxia, Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnorma... |
OMIM:165500 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... |
ORPHA:401901 |
| Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
| Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Short stature, Tonic seizure, Unsteady gait, Foc... |
OMIM:617711 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Gliosis, Arthrogryposis multiple... |
OMIM:615095 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:613582 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Myopia, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal ... |
OMIM:617435 |
| Temporal Arteritis |
|
Blindness, Retinal arteritis |
OMIM:187360 |
| Usher Syndrome, Type Iiia |
|
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect |
OMIM:276902 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Nyctalopia, Reduced visual acuity, Truncal obesity, Childhood-onset truncal ob... |
OMIM:610156 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... |
OMIM:267760 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... |
OMIM:618220 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Dysplastic corpus callo... |
ORPHA:250972 |
| Cln5 Disease |
|
Tremor, Dysmetria, Hyperactivity, Abnormal central motor function, Ataxia, Atrophy/Degeneration a... |
ORPHA:228360 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
| Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Global brain atr... |
OMIM:613721 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Epileptic spasm, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic sei... |
OMIM:617193 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Chorea, Athetosis, Se... |
ORPHA:382 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Myopia, Retinal atrophy, Retinal dystrophy, Ataxia, Amblyopia, Head titubation, Hypermetropia, Co... |
ORPHA:370022 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... |
OMIM:618587 |
| Retinitis Pigmentosa 89 |
|
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Micronodular cirrhosis, Es... |
OMIM:618955 |
| Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
| Retinitis Pigmentosa 92 |
|
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... |
OMIM:619614 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... |
OMIM:618826 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... |
OMIM:616981 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ce... |
OMIM:256600 |
| Felty Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Recurrent pha... |
ORPHA:47612 |
| Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis, Gastroesophageal reflux |
OMIM:612913 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:606068 |
| Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Episo... |
OMIM:618924 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Epileptic spasm, Inability to walk, Chorea, Cerebral atrophy, Myoclonic seizu... |
OMIM:614254 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... |
OMIM:128100 |
| Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Foc... |
OMIM:617166 |
| Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... |
OMIM:616517 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Bilateral tonic-clonic seizure, Impulsivity, Generalized clonic seizure, Aggressiv... |
ORPHA:101039 |
| Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Restless legs, Somatic sensory dysfunction, Blindness, Ataxia, Cerebella... |
ORPHA:94147 |
| Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... |
OMIM:614186 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... |
OMIM:615147 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Short stature, Rhizomelia, Optic atrophy, Disproportionate short-trunk s... |
OMIM:602271 |
| Retinitis Pigmentosa 85 |
|
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity |
OMIM:618345 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
| Oliver-Mcfarlane Syndrome |
|
Severe short stature, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, P... |
OMIM:275400 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... |
OMIM:613670 |
| Galactose Mutarotase Deficiency |
|
Sepsis |
ORPHA:570422 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Seizure, Gliosis, Myoclonus, Neuronal loss in centra... |
OMIM:604218 |
| Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... |
OMIM:300755 |
| Spastic Paraplegia 81, Autosomal Recessive |
|
Lower limb spasticity, Cerebral visual impairment, Inability to walk, Babinski sign, Optic atroph... |
OMIM:618768 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... |
OMIM:271630 |
| Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,... |
OMIM:610381 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generaliz... |
ORPHA:36387 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Failure to thrive, Agenesis of corpus callosum, Reduced dihydropyri... |
OMIM:274270 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, Increased circulating IgG... |
ORPHA:443811 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Blindness, Cerebral atrophy, Dystonia, Spasticity |
OMIM:617899 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... |
ORPHA:2590 |
| Developmental And Epileptic Encephalopathy 107 |
|
Clonic seizure, Seizure, Abnormal repetitive mannerisms, Tonic seizure |
OMIM:620033 |
| Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Mental deterioration, S... |
ORPHA:309169 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Vertebral wedging, Platyspondyly, Kyphoscoliosis |
OMIM:616583 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Impulsivity, Aggressive... |
OMIM:604317 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Optic atrophy, ... |
OMIM:616680 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Short stature, Kyphosis, Cryptorchidis... |
ORPHA:352490 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spasticity, Cerebral cortical ... |
OMIM:300983 |
| Cavitary Optic Disc Anomalies |
|
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect |
OMIM:611543 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Cerebral atrophy, D... |
OMIM:617493 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Positive Romberg sign, Kyphoscoliosis, Distal sensory impairment |
OMIM:616668 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Optic atrophy, Generalized... |
OMIM:617810 |
| Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Difficulty walking, Giant somatos... |
OMIM:613608 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Ce... |
ORPHA:263516 |
| Warburg Micro Syndrome 1 |
|
Failure to thrive, Optic atrophy, Agenesis of corpus callosum, Kyphoscoliosis |
OMIM:600118 |
| Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic s... |
OMIM:619606 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Clonic seizure, Seizure, Self-injurious behavior, Arthrogryposis multiplex congenita, Abnormal re... |
OMIM:615282 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Progressive spastic paraparesis, C... |
ORPHA:506353 |
| Prolonged Electroretinal Response Suppression 2 |
|
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... |
OMIM:620344 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Seizure, Gliosis, Ventriculomegaly |
OMIM:612936 |
| Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Ataxia, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photoph... |
OMIM:616732 |
| Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... |
OMIM:613093 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... |
OMIM:133780 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Growth delay, Seizure, Late... |
OMIM:615716 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
| Retinitis Pigmentosa 40 |
|
Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b... |
OMIM:613801 |
| Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, My... |
OMIM:617976 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,... |
OMIM:614700 |
| Selective Igm Deficiency |
|
Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio... |
ORPHA:331235 |
| Canavan Disease |
|
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Hypertonia, Cognitive impairment, ... |
ORPHA:141 |
| Developmental And Epileptic Encephalopathy 71 |
|
Seizure, Gliosis |
OMIM:618328 |
| Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... |
OMIM:616170 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure, Hypoglycemia, Large for gestational age, Obesity, Truncal obesity... |
OMIM:240900 |
| Cerebral Sclerosis, Diffuse, Scholz Type |
|
Blindness, Spastic paraplegia, Dementia |
OMIM:302700 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Kyphoscoliosis, Dysphagia |
ORPHA:496689 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... |
OMIM:600059 |
| Diabetes And Deafness, Maternally Inherited |
|
Unsteady gait, Seizure, Pigmentary retinopathy, Type II diabetes mellitus, Hyperglycemia, Retinal... |
OMIM:520000 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... |
OMIM:300476 |
| Bardet-Biedl Syndrome 4 |
|
Nyctalopia, Rod-cone dystrophy, Obesity, Retinal degeneration |
OMIM:615982 |
| Peho-Like Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Status epilepticus, Myoclonus,... |
OMIM:617507 |
| Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal ce... |
ORPHA:391417 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia |
OMIM:300857 |
| Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... |
OMIM:239500 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Short stature, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Seizure, Tip-t... |
OMIM:617404 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Blindness, Diffuse cerebral atrophy, Corpus callosum atrophy, Tongue thrusting, Lateral ventricle... |
ORPHA:77299 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potenti... |
OMIM:619260 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, G... |
OMIM:271980 |
| Retinitis Pigmentosa |
|
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... |
OMIM:268000 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Small for gestational age, Short stature, Kyphosis, Seizure |
ORPHA:85288 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Multifocal seizures, Focal motor status epilepticus, Focal-onset seizure, Optic ... |
OMIM:614498 |
| Lissencephaly, X-Linked, 2 |
|
Seizure, Gliosis, Agenesis of corpus callosum, Decreased testicular size, Ventriculomegaly |
OMIM:300215 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Progres... |
ORPHA:275872 |
| Exudative Vitreoretinopathy 4 |
|
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... |
OMIM:601813 |
| Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Impaired proprioception, Hand tremor, Head tremor, Retinal atrophy, Gait disturbance, Cognitive i... |
ORPHA:412057 |
| Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizur... |
OMIM:617831 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutropenia |
ORPHA:33110 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis, Visual impairment |
OMIM:617977 |
| Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... |
OMIM:602093 |
| Kohlschutter-Tonz Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Cerebral atrophy, Myoclonic seizure,... |
OMIM:226750 |
| Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Abnormal repetitive mannerisms, Bilateral tonic-clonic se... |
OMIM:616341 |
| Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... |
OMIM:616139 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Abnormal retinal morphology, Facial palsy, Optic atrophy, Parkinsonis... |
ORPHA:254886 |
| Joint Laxity, Short Stature, And Myopia |
|
Retinal detachment, Cervical kyphosis, Kyphoscoliosis, High myopia, Chorioretinal coloboma |
OMIM:617662 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| X-Linked Neurodegenerative Syndrome, Hamel Type |
|
Blindness |
ORPHA:85336 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Head titubation, Tremor, Babinski sign, Reduced ... |
OMIM:611302 |
| Blue Cone Monochromacy |
|
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... |
OMIM:303700 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Hyperacti... |
OMIM:234200 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
| Abetalipoproteinemia |
|
Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, Hepatic fibrosis... |
ORPHA:14 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Attention deficit hyperactivity dis... |
OMIM:619191 |
| Cataract 11, Multiple Types |
|
Blindness, Chorea |
OMIM:610623 |
| Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, I... |
OMIM:616645 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Aggressive behavior, Focal-onset seizure, Gener... |
OMIM:619157 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Giant somatosensory evoked potentials, Bilateral tonic-clonic seiz... |
OMIM:601068 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... |
OMIM:611890 |
| Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... |
ORPHA:791 |
| Spinocerebellar Ataxia Type 1 |
|
Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction velocity, Abnormal flash vi... |
ORPHA:98755 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic at... |
OMIM:125250 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
| Exudative Vitreoretinopathy 5 |
|
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... |
OMIM:613310 |
| Tritanopia |
|
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... |
ORPHA:88629 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... |
OMIM:600105 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Mehmo Syndrome |
|
Hypoglycemia, Small for gestational age, Aggressive behavior, Inability to walk, Obesity, Gait at... |
OMIM:300148 |
| Fleck Retina, Familial Benign |
|
Nyctalopia, Retinal flecks, Visual impairment |
OMIM:228980 |
| Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Failure to thrive, Ataxia, Jaundice, Macro... |
ORPHA:79320 |
| Infantile Krabbe Disease |
|
Diffuse cerebral atrophy, Progressive neurologic deterioration, Opisthotonus, Photophobia, Decere... |
ORPHA:206436 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis... |
OMIM:615924 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Bilateral tonic-clonic seizure, Abnormal repetitive mannerisms, Chorea, Generalize... |
OMIM:617600 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Keloids, Seizure, Gliosis, Scoliosis |
ORPHA:357225 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Kyphoscoliosis, Distal sensory impairment |
OMIM:605588 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infections, S... |
ORPHA:169090 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Bilateral tonic-clonic seizure, Short neck, Dysmetria, Gait ataxia, Cerebral atrop... |
OMIM:615031 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... |
OMIM:617820 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Self-injurious behavior, Abnormal repetitive... |
OMIM:619690 |
| Fundus Albipunctatus |
|
Nyctalopia, Retinal flecks, Fundus albipunctatus |
OMIM:136880 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Nyctalopia, Retinal dystrophy |
OMIM:607475 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Gliosis, Inappropriate laughter, Disinhibition, Neuronal loss in ... |
OMIM:172700 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Leigh Syndrome |
|
Ataxia, Optic atrophy, Seizure, Pigmentary retinopathy, Gliosis, Failure to thrive |
OMIM:256000 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Kyphoscoliosis, Scoliosis, Spinal rigidity |
OMIM:620386 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Cerebellar atrophy, Amblyopia, Overweight, Babinski sign, Spastic dysarthria, Diff... |
ORPHA:280763 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... |
ORPHA:436274 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... |
ORPHA:83471 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... |
OMIM:609260 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Optic atrophy, Seizure, Gliosis, Status epilepticus, Neurodegeneration, Neuro... |
OMIM:616239 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Visual loss, Babinski sign, Gait ataxia... |
ORPHA:247234 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Constriction of peripheral visual field, Ataxia, Tremor, Depression, Hemiparesis, Pigmentary reti... |
OMIM:614307 |
| Masa Syndrome |
|
Short stature, Hyperlordosis, Kyphosis, Hydrocephalus, Shuffling gait, Agenesis of corpus callosu... |
OMIM:303350 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233710 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anorexia, Abnormal fear-induced behavior, Obe... |
ORPHA:3077 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... |
OMIM:615973 |
| Developmental And Epileptic Encephalopathy 24 |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Enhancement of the C-reflex, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Distal sensory impairment, Kyphoscoliosis, Gait ataxia |
OMIM:180800 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Ataxia, Visual loss, Nyctalopia, Kyphosis, Gastrointesti... |
ORPHA:88628 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Diplopia, Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Macular degen... |
ORPHA:284289 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
| Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... |
ORPHA:414 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis |
OMIM:271200 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, High palate, Kyphoscoliosis |
OMIM:610687 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
| Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... |
OMIM:618977 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Small for gestational age, Ataxia, Failure to thrive in infancy, Short stature, Bi... |
OMIM:614104 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Diffuse cerebral atrophy, Small for gestational age, Bilateral tonic-clonic seiz... |
ORPHA:289266 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Kyphoscoliosis, Dysphagia |
OMIM:618230 |
| Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:614499 |
| Retinitis Pigmentosa 6 |
|
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... |
OMIM:312612 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Tremor, Abnormal pyramidal sign, Loss of ambulation, Abnormal lower motor neuron morphology, Atax... |
OMIM:614298 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Hypermetropia, Scoliosis |
OMIM:618484 |
| Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Aggressive behavior, General... |
ORPHA:86909 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder |
OMIM:617863 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Morning myoclonic jerks, Generalized non... |
OMIM:607682 |
| Bestrophinopathy, Autosomal Recessive |
|
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks |
OMIM:611809 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, Recurrent upp... |
OMIM:602450 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec... |
OMIM:256500 |
| Gyrate Atrophy Of Choroid And Retina |
|
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... |
OMIM:258870 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Agammaglobulinemia, Anemia, N... |
ORPHA:47 |
| Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizu... |
OMIM:618012 |
| Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Global bra... |
OMIM:618470 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cachexia, Chorea, Dysmetria, Gait ata... |
OMIM:618093 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ventriculomegaly, Ataxia, Camptodactyly of finger, Hypoglycemia, Short stature, Hypogonadotropic ... |
ORPHA:48431 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy |
OMIM:179840 |
| Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Atlantoaxial abnormality, High, narrow palate, Kyphoscoliosis |
ORPHA:3433 |
| Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Flexion contracture, Focal tonic seizure, ... |
OMIM:617106 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Ataxia, Hydrocephalus, Optic atrophy, Cerebral atrophy, Choreoathetosis, Seiz... |
OMIM:616034 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Prolonged somatosensory evoked p... |
OMIM:608105 |
| Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... |
ORPHA:209943 |
| Sarcosinemia |
|
Ataxia, Optic atrophy, Emotional lability, Tetraparesis, Congenital blindness |
ORPHA:3129 |
| Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the macula, L... |
ORPHA:845 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Blindness, Optic atrophy |
ORPHA:2787 |
| Retinal Cone Dystrophy 3A |
|
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia |
OMIM:610024 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Abnormality of ma... |
ORPHA:97229 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Bilateral tonic-clonic seizure, Short stature, Aggressive behavior, Impulsivity, Focal-on... |
OMIM:619435 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Chorea, Loss of ambulation, Ataxia, Clumsiness, Athetosis, Gait disturbance, Myoclonus, Craniofac... |
OMIM:617282 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis |
OMIM:612847 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Ventriculomegaly |
OMIM:203740 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Recurrent tonsillitis, Sepsis, Decreased eosinophil count, ... |
ORPHA:2686 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Hypoglycemia, Inability to walk, Optic atrophy, Athetosis, Seizure, Gait dist... |
OMIM:618241 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... |
OMIM:616108 |
| Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia, Retinal degeneration |
OMIM:257970 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Kyphoscoliosis, Impaired pain sensation, Obesity, Hypermetropia, Failure to thrive... |
ORPHA:412035 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Focal-onset seizure, Myoclonic sei... |
OMIM:619092 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... |
OMIM:605750 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:233690 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Infantile spasms, Impaired pain sensation, Kyphosis, Inability to walk, Ton... |
ORPHA:3095 |
| Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... |
OMIM:618173 |
| Ophthalmoplegia, External, And Myopia |
|
Myopia, Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
| Christianson Syndrome |
|
Cerebellar atrophy, Generalized-onset seizure, Cachexia, Dysphagia, Gait ataxia, Inappropriate la... |
ORPHA:85278 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... |
ORPHA:52427 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Failure to thrive in infancy, Short stature, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619065 |
| Night Blindness, Congenital Stationary, Type 1F |
|
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... |
OMIM:615058 |
| Usher Syndrome Type 1 |
|
Ataxia, Scotoma, Visual loss, Nyctalopia, Depression, Subcortical cerebral atrophy, Hemianopia, H... |
ORPHA:231169 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Seizure, Gliosis |
OMIM:613002 |
| Acute Zonal Occult Outer Retinopathy |
|
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... |
ORPHA:284454 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy,... |
ORPHA:329284 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Peripheral visual field los... |
ORPHA:79244 |
| Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Spastic ataxia, Somatic sensory dysfunction, Kyphoscoliosis, Aggressive behavior, Cerv... |
ORPHA:199354 |
| Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
| Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... |
OMIM:605549 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Short stature, Kyphosis, Seizure, Scoliosis, Bruxism |
OMIM:300434 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... |
ORPHA:364055 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... |
OMIM:615157 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:620102 |
| Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
| Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill... |
OMIM:618935 |
| Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
| Usher Syndrome, Type Iid |
|
Nyctalopia, Rod-cone dystrophy |
OMIM:611383 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Kyphosis, Optic atrophy, Distal sensory impairment, Scoliosis, Difficulty walking |
OMIM:617087 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Hyperlordosis, Obesity, Cleft palate, Irregular vertebral endplates, Coronal clef... |
OMIM:618363 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... |
OMIM:620228 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Eye... |
OMIM:618357 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... |
OMIM:617304 |
| Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Chorea, Optic atrophy, Seizure, Congenital contracture, Gliosis, Dysphagia, Cerebra... |
OMIM:277470 |
| Oguchi Disease |
|
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... |
ORPHA:75382 |
| Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:613983 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Hyperlordosis, Increased connective tissue, Focal-onset seizure, Inability to walk,... |
ORPHA:258 |
| Mucous Membrane Pemphigoid |
|
Blindness |
ORPHA:46486 |
| Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Pa... |
ORPHA:98820 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Ataxia, Obesity, Kyphoscoliosis |
ORPHA:459033 |
| Parkinson-Dementia Syndrome |
|
Kyphoscoliosis |
OMIM:260540 |
| Congenital Myopathy 23 |
|
High palate, Kyphoscoliosis |
OMIM:609285 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Myopia, Hepatomegaly, Abnormal chorioretinal morphology, Vis... |
ORPHA:5 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal... |
ORPHA:98762 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Cryp... |
ORPHA:457205 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:615233 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:180105 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Myopia, Kyphoscoliosis |
ORPHA:300179 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Diabetes mellitus, Ataxia, Short stature, Cryptorchidism, Optic atrophy,... |
OMIM:249270 |
| Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Enlarged sylvian cistern, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, ... |
OMIM:619616 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Inability to walk, Seizure, Lateral ventricle dilatation, Abnormal repe... |
OMIM:613443 |
| Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Depre... |
OMIM:312080 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... |
ORPHA:137898 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... |
OMIM:610478 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,... |
OMIM:105550 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Short stature, Impaired pain sensation, Self hugging, Increase... |
OMIM:182290 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Small for gestational age, Ky... |
OMIM:613330 |
| Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Kyphoscoliosis, Short neck, Obesity, Choreoathetosis, High palate, Scoliosi... |
OMIM:300055 |
| Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Kyphoscoliosis, Inability to walk, Flexion contr... |
OMIM:617105 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Seizure, Scoliosis, Short neck |
ORPHA:2744 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
| Usher Syndrome Type 3 |
|
Ataxia, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia |
ORPHA:231183 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gait, Obesity, Dy... |
ORPHA:93952 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis |
OMIM:600384 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Dysmetria, Lumbar kyphosis in infa... |
ORPHA:3041 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction... |
ORPHA:276435 |
| Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... |
OMIM:601777 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:612095 |
| Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Kyphosis, Chorea, Inabi... |
ORPHA:500180 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
| 4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Abnormal repetitive mannerisms, Growth delay, Seizure, Self-injurious behav... |
ORPHA:238750 |
| Joubert Syndrome 18 |
|
Kyphoscoliosis, Cleft palate, Lobulated tongue, Intrahepatic biliary atresia, Agenesis of corpus ... |
OMIM:614815 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... |
OMIM:193220 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Optic atrophy, Cerebral atrophy, Dysphagia, Choreoathetosis, Seizure, Growth delay, Lumba... |
OMIM:619422 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hoffmann sign, Dysmetria, Hyperactivity, Ataxia, Confusion, Gait disturbance, Oculomotor apraxia,... |
ORPHA:139396 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Impaired tandem gait, Seizu... |
OMIM:300423 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Mild postnatal growth retardation, Optic atrophy, Seizure, Fused cervical ... |
ORPHA:530983 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Short attention span, Dystonia, Parkinsonism, Chorea, Babinski sign, Titubation, ... |
ORPHA:225147 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Tonic s... |
OMIM:619580 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Seizure, Colpocephaly, Macular hypoplasia, Ventriculomegaly |
ORPHA:2185 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Hypermetropia, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Alg1-Cdg |
|
Sepsis, Recurrent infections |
ORPHA:79327 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:616469 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Aggressive behavior |
OMIM:309530 |
| Migraine, Familial Hemiplegic, 3 |
|
Photophobia, Blindness |
OMIM:609634 |
| 48,Xxyy Syndrome |
|
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism, Crypt... |
ORPHA:10 |
| Myopathic Ehlers-Danlos Syndrome |
|
Myopia, Kyphoscoliosis, Hyperlordosis, Kyphosis, High, narrow palate, Scoliosis, Failure to thrive |
ORPHA:536516 |
| Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, High, narrow palate, Cleft palate, Tics, Gastroesophageal reflux, Attention defic... |
OMIM:617808 |
| Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... |
OMIM:270200 |
| Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis, Chorioretinal coloboma |
OMIM:300915 |
| Hyperekplexia 4 |
|
High palate, Kyphoscoliosis |
OMIM:618011 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Kyphoscoliosis, Distal sensory impairment |
OMIM:607831 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Poor coordinat... |
OMIM:615994 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Ataxia, Bilateral tonic-clonic seizure |
OMIM:618425 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, High palate, Scoliosis, Fail... |
OMIM:619542 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly |
ORPHA:85198 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus, Brai... |
OMIM:617290 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Asplenia, Sepsis, Coombs-positive hemolytic anemia, Thrombocytosis |
OMIM:614034 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ... |
ORPHA:254881 |
| Episodic Ataxia, Type 5 |
|
Ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
| Allan-Herndon-Dudley Syndrome |
|
Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in infancy, Choreoathetosis,... |
ORPHA:59 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tremor, Dysplastic corpus callosum, Retrobulbar ... |
OMIM:619737 |
| Whistling Face Syndrome, Recessive Form |
|
Microglossia, High palate, Kyphoscoliosis, Short neck |
OMIM:277720 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Growth delay, ... |
OMIM:614946 |
| Alpers-Huttenlocher Syndrome |
|
Blindness, Ataxia, Paraparesis, Choreoathetosis, Abnormality of vision, Myoclonus, Progressive sp... |
ORPHA:726 |
| Optic Pathway Glioma |
|
Papilledema, Blindness, Visual loss, Optic atrophy, Reduced visual acuity, Visual field defect, F... |
ORPHA:2086 |
| Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary mov... |
ORPHA:48818 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613617 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Dementia, Abnormality of extrapyra... |
OMIM:604290 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Bilateral tonic-clonic seizure |
OMIM:104290 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte... |
OMIM:612541 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Myopia, Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Dysdiadochokinesi... |
ORPHA:289494 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... |
OMIM:613843 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis |
OMIM:619059 |
| Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Limb ataxia, Degeneration of anterior horn cells, Lateral ventricle dilatation, Congenita... |
OMIM:607596 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Somatic sensory dysfunction, Optic atrophy, Reduced visual acuity, Gait ataxia, Progressive cereb... |
ORPHA:466794 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical body rocking, A... |
OMIM:309548 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Flexion contract... |
OMIM:618856 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Absent microvilli on... |
OMIM:301000 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology, Nyctalopia, Hy... |
ORPHA:1390 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Abnormal repetitive mannerisms, Amelogenesis imperfecta, Ataxia, Overweight, Obesity, Nocturnal s... |
OMIM:619229 |
| Cone-Rod Dystrophy 18 |
|
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... |
OMIM:615374 |
| Episodic Ataxia Type 1 |
|
Kyphoscoliosis, Diplopia, Choreoathetosis, Scoliosis, Blurred vision |
ORPHA:37612 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Agenesis of corpus callosum |
OMIM:605899 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Brain atrophy, Bruxism, Spasti... |
OMIM:618718 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent up... |
ORPHA:183675 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasm... |
ORPHA:171680 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Dementia, Tongue fasciculations, Diffi... |
OMIM:159950 |
| Adrenoleukodystrophy |
|
Blindness, Incoordination, Visual loss, Paraparesis, Spastic paraplegia, Slurred speech, Limb ata... |
OMIM:300100 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Kyphoscoliosis, Impaired distal vibration sensation, Sensory ataxia, Distal sensory impairment, S... |
OMIM:145900 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Focal impaired aware... |
OMIM:620292 |
| Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Nyctalopia |
OMIM:618632 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Blindness, Abnormality of retinal pigmentation, Visual loss, Scoliosis |
ORPHA:171844 |
| 19P13.3 Microduplication Syndrome |
|
Myopia, Hyperactivity, Kyphoscoliosis, Amblyopia, Hypermetropia, Cleft palate, Self-injurious beh... |
ORPHA:447980 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Focal-onset seizure, Chorea, Inability to walk, Self-injurious behavior, Convulsive status epilep... |
OMIM:618760 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Abnormal dental enamel morphology, Kyphosis, ... |
ORPHA:816 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... |
OMIM:613756 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Severe failure to thrive, Coronal cleft vertebrae, Cleft palate, Kyphoscoliosis |
OMIM:215100 |
| Optic Atrophy 11 |
|
Myopia, Hyperactivity, Ataxia, Optic nerve hypoplasia, Amblyopia, Gait apraxia, Optic atrophy, Dy... |
OMIM:617302 |
| Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... |
OMIM:617350 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Retinal detachment, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosi... |
ORPHA:93284 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Mild postnatal growth retardation, Kyphosi... |
ORPHA:90324 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Inability t... |
ORPHA:481152 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive im... |
OMIM:615768 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enlarged sylvian cistern, Bilateral tonic-clonic seizure, Retinal dystrophy, Short stature, Short... |
OMIM:615802 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body rocking, Agitatio... |
ORPHA:100973 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Brain atrophy, Myoclonic absence seizure |
OMIM:612621 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Lateral ventricle dilatation, Gliosis, Agitation,... |
OMIM:607485 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning, Ataxia, Reduced visual acuity, Photophobia |
OMIM:618970 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic s... |
OMIM:619428 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Gait ataxia... |
OMIM:616817 |
| Leigh Syndrome |
|
Cerebellar atrophy, Multiple joint contractures, Ataxia, Hypoglycemia, Infantile spasms, Chorea, ... |
ORPHA:506 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
OMIM:615637 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... |
OMIM:193235 |
| Central Retinal Vein Occlusion |
|
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... |
ORPHA:411527 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Colpocephaly, Blindness, Scoliosis |
OMIM:618731 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Blindness, Small for gestational age, Optic atrophy, Lateral ventricle dilatation, Hypertonia, My... |
ORPHA:3078 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Restlessness, Hyperactivity, Bilateral tonic-clonic seizure, Short stature, Aggressive behavior, ... |
OMIM:300558 |
| Cog4-Cdg |
|
Neonatal sepsis, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent infe... |
ORPHA:263501 |
| Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cer... |
OMIM:609924 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Sepsis, Anemia, Leukopenia, Neutropenia, Thrombocyt... |
ORPHA:292 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Short attention span, Ataxia, Impulsivity, Tremor, Dys... |
OMIM:619028 |
| Retinitis Pigmentosa 37 |
|
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... |
OMIM:611131 |
| Usher Syndrome |
|
Abnormality of retinal pigmentation, Blindness, Myopia, Ataxia, Nyctalopia, Vestibular areflexia,... |
ORPHA:886 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Dysphagia, Beaking of... |
OMIM:252930 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Kyphoscoliosis, Impaired distal proprioception, Impaired distal vibration sensation, Dist... |
OMIM:601455 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Cerebral cortical neurodegeneration, Ce... |
OMIM:203700 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Kyphoscoliosis |
OMIM:616684 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... |
ORPHA:363710 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Somatic sensory dysfunction, Kyphoscoliosis, Distal sensory impairment |
ORPHA:99950 |
| Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... |
OMIM:615859 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Optic atrophy, Choreoathetosis, Gastroesophageal reflux, Dysphagia |
OMIM:617664 |
| Stickler Syndrome, Type I |
|
Retinal detachment, Myopia, Blindness, Kyphosis, Submucous cleft hard palate, Cleft palate, Platy... |
OMIM:108300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Retinopathy, Gliosis |
OMIM:615119 |
| Dystonia-Deafness Syndrome 1 |
|
Small for gestational age, Kyphoscoliosis, Cleft palate, Pseudobulbar paralysis, Dysphagia, Achal... |
OMIM:607371 |
| Macular Degeneration, Age-Related, 3 |
|
Choroidal neovascularization, Decreased nerve conduction velocity, Drusen, Distal sensory impairm... |
OMIM:608895 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Myoclonus, Ataxia, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:254800 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:613581 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Tonic seizure, Hydrocephalus, Flexion contracture, Seizure, Scoliosis, Agenesis of corpus callosu... |
OMIM:615249 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Kyphoscoliosis, Failure to thrive, Visual impairment |
OMIM:260600 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Gliosis, Corneal scarring, Athetosis, Impaired oropharyngeal swallow response, Myoclonus,... |
ORPHA:404454 |
| Night Blindness, Congenital Stationary, Type 1H |
|
Hypermetropia, Photophobia, Nyctalopia, Mild myopia |
OMIM:617024 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Retinal detachment, Moderately reduced visual acuity, Visual acuity light percepti... |
ORPHA:2788 |
| Åland Islands Eye Disease |
|
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... |
ORPHA:178333 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent ... |
OMIM:617303 |
| Infantile Refsum Disease |
|
Hepatomegaly, Failure to thrive, Constriction of peripheral visual field, Ataxia, Nyctalopia, Opt... |
ORPHA:772 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Inability to walk, Tre... |
ORPHA:90117 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Impaired temperature sensation, Impaired pain sensation, Impaired distal vibratio... |
OMIM:619574 |
| Primary Angiitis Of The Central Nervous System |
|
Abnormal visual field test, Ataxia, Parkinsonism, Paralysis, Paraparesis, Diplopia, Reduced visua... |
ORPHA:140989 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
| Poretti-Boltshauser Syndrome |
|
Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia, Oculomotor apraxia |
OMIM:615960 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Diffic... |
ORPHA:306669 |
| Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Splenomegaly, Sepsis |
ORPHA:379 |
| Bardet-Biedl Syndrome 3 |
|
Nyctalopia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment |
OMIM:600151 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Decreased methionine synthase activity, Blindness, Failure to thrive |
OMIM:250940 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Polydipsia, Irregular menstruation, Obesity, Truncal obe... |
OMIM:615986 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Seizure, Retinal degeneration |
OMIM:617173 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gliosis, Abnormal optic chiasm morphology, Ataxia, Short stature, Cryptorchidism, Typical absence... |
ORPHA:268261 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... |
OMIM:619780 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Kyphosis, Cryptorchidism, Obesity, Seizure, Scoliosis, Delayed puberty, Scheuerman... |
OMIM:301900 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Infantile spasms, Aggressive behavior, Chorea, Cerebral atrophy, Gait ataxia, Seizure, Gl... |
OMIM:618321 |
| Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Sepsis |
ORPHA:79239 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Congenital blindness, Hepatic steatosis |
ORPHA:436182 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Impotence, Pseudobulbar paralysis, Gliosis, Autonomic bladder dy... |
OMIM:169500 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Diplopia, Unsteady gait, Abnormal pyramidal s... |
OMIM:616795 |
| Developmental And Epileptic Encephalopathy 28 |
|
Rigidity, Optic atrophy, Cerebral atrophy, Spasticity, Retinal degeneration |
OMIM:616211 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Myopia, Kyphoscoliosis, High palate, Scoliosis, Biconcave vertebral bodies, Failure to thrive, He... |
OMIM:236200 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Kyphoscoliosis |
OMIM:618006 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Ataxia, Cachexia, Optic atrophy, Choreoathetosis, Gait disturbance,... |
ORPHA:702 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Hepatomegaly, Ataxia, Kyphoscoliosis, Macroglossia, High palate, Scoliosis |
OMIM:616354 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Myopia, Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrop... |
OMIM:607694 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Self-injurious behavior, Lateral ventricle di... |
OMIM:620075 |
| Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Progressive psychomotor deterioration, Progressive gait ataxia, Decerebrate rigidity, Ort... |
ORPHA:309271 |
| Proteus Syndrome |
|
Spinal canal stenosis, Kyphoscoliosis |
OMIM:176920 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykine... |
ORPHA:314632 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Short stature, Hypergonadotropic hypogon... |
ORPHA:3085 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Seizure, Myoclonus, Febrile seizure ... |
OMIM:612736 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund... |
OMIM:613835 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Myoclonic a... |
OMIM:617836 |
| Night Blindness, Congenital Stationary, Type1I |
|
Tritanomaly, Nyctalopia |
OMIM:618555 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia... |
OMIM:261630 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hyperactivity, Seizure, Lateral ventricle dilatation, Scoliosis, Umbili... |
OMIM:617751 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:602772 |
| Posttransplant Acute Limbic Encephalitis |
|
Sepsis |
ORPHA:163921 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... |
OMIM:616269 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Ataxia, Short stature, Impaired pain sensation, Kyphosis, Unstea... |
OMIM:618124 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Diplopia, Memory impairment, Myoclonus, Head... |
OMIM:620158 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... |
OMIM:214500 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Rep... |
ORPHA:401777 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Kyphoscoliosis, Distal sensory impairment |
OMIM:118220 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Scoliosis, Abnormal repetitive mannerisms |
ORPHA:391307 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Dysmetria, Gait ataxia, Seizur... |
ORPHA:529665 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Short stature, Kyphosis, Attention deficit hyperactivity disorder, Failure to thrive |
OMIM:620007 |
| Cohen Syndrome |
|
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Thoracic scoliosis, Bul... |
OMIM:216550 |
| Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Inguinal hernia, Corpus callosum atrophy, Increased vertebral height, Limb at... |
OMIM:248500 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity... |
OMIM:618342 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukopenia, Leukocytosis, Neutrophilia, Sepsis |
ORPHA:36238 |
| Cone-Rod Dystrophy 10 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... |
OMIM:610283 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections |
ORPHA:764 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Bilateral tonic-clonic seizure, Gait disturbance |
ORPHA:100988 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Subependymal ... |
OMIM:600721 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Hypermetropia, Gait ataxia, Difficulty walking, Dystonia, Spasti... |
OMIM:617807 |
| O'Donnell-Luria-Rodan Syndrome |
|
Aggressive behavior, Kyphosis, Cryptorchidism, Self-injurious behavior, Seizure, Skin-picking |
OMIM:618512 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Red-green dyschromatopsia, Limb ataxia... |
ORPHA:98764 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Blindness, Ataxia, Myoclonus, Brain atrophy, Spasticity |
OMIM:618225 |
| Parastremmatic Dwarfism |
|
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis |
OMIM:168400 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
| Leber Congenital Amaurosis 3 |
|
Visual loss, Nyctalopia, Constriction of peripheral visual field |
OMIM:604232 |
| Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Blindness, Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia, Dystonia, ... |
ORPHA:254913 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P... |
OMIM:300578 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Temporal cortical atrophy, Astrocytosis, Fr... |
ORPHA:100070 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Kyphosis, Inability to walk, Optic atrophy, Cer... |
OMIM:617988 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadoch... |
OMIM:614487 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Gm1 Gangliosidosis |
|
Blindness, Generalized dystonia, Ataxia, Dystonia, Abnormal retinal vascular morphology, Tremor, ... |
ORPHA:354 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Dilated fourth ventricle, Cerebellar atrophy, Ataxia, Limb ataxia, ... |
OMIM:109150 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp... |
OMIM:300280 |
| Emanuel Syndrome |
|
Myopia, Sacral dimple, Kyphoscoliosis, Hypermetropia, Cleft palate, Ectopic anus, High palate, Ga... |
ORPHA:96170 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Distal sensory impairment |
OMIM:604563 |
| Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Dysdiadochokinesis, Kyphoscoliosis, Dysphagia |
ORPHA:98805 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... |
OMIM:600132 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Generalized-onset seizure, Bilateral tonic-clonic seizure, Aggressive... |
OMIM:619827 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, Optic atrop... |
ORPHA:313892 |
| Acquired Purpura Fulminans |
|
Sepsis, Thrombocytopenia |
ORPHA:49566 |
| Hirschsprung Disease |
|
Sepsis |
ORPHA:388 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Short stature, Large for gestational age, Seizure, Self-injurious behavior, Glio... |
ORPHA:261652 |
| Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Cerebral atrophy, Seizure, Focal ... |
OMIM:617933 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Retinal dystrophy, Tremor, Unsteady gait, Dysmetria, Oculomotor aprax... |
OMIM:614867 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Cryptorchidism, Chorea, Seizure, Status epilepti... |
OMIM:613970 |
| Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal... |
OMIM:300912 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Scotoma, Tremor, Babinski sign, Optic atrophy, Dysmetria, Distal sens... |
OMIM:616505 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis |
ORPHA:370980 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... |
OMIM:613810 |
| D-Glyceric Aciduria |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Hypoglycemia, Tongue thrusting, Growth de... |
OMIM:220120 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Self-injurious behavior, Agitation, Kyphoscoliosis |
OMIM:618339 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Restlessness, Tonic seizure, Focal-onset seizure, Partial agenesis of the corpus callosum, Retina... |
OMIM:619517 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Clonus, Atrophy/Degeneration affecting the brainste... |
OMIM:616479 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcorti... |
OMIM:606159 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Lumbar hyperlordosis, Amblyopia, Aggressive behavior, Self-injurious behavior, Tho... |
OMIM:619467 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Corpus callosum atrophy, ... |
ORPHA:565624 |
| Idiopathic Panuveitis |
|
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... |
ORPHA:280921 |
| Optic Atrophy 5 |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... |
OMIM:610708 |
| Brain Small Vessel Disease 2 |
|
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure, Ventriculomegaly |
OMIM:614483 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Developmental And Epileptic Encephalopathy 31B |
|
Multifocal seizures, Infantile spasms, Clonic seizure, Optic atrophy, Myoclonic seizure, Seizure,... |
OMIM:620352 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc... |
OMIM:612989 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Short stature, Aggressive behavior, Kyphosis, Cryptorchidism, Cerebellar vermis at... |
OMIM:300354 |
| Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Growth delay, Seizure, Bilateral tonic-clonic seizure, Cerebral atrophy |
ORPHA:209370 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S... |
OMIM:306400 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Severe temper tantrums, Aggressive behavior... |
OMIM:617710 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Blindness, Cerebral atrophy, Hypertonia, Gait disturbance, Hyperkinetic movements, Failure to thr... |
OMIM:236270 |
| Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Kyphoscoliosis |
OMIM:607855 |
| Martsolf Syndrome 2 |
|
Short stature, Camptodactyly of finger, Hypogonadotropic hypogonadism, Lateral ventricle dilatati... |
OMIM:619420 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Seizure, Attention deficit hyperactivity disorder, Scoliosis, Abnormal repetitive... |
OMIM:618906 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Progressive spasticity, Dysphagia, Failure to thrive,... |
DECIPHER:45 |
| Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Limb joint contracture, Failure to thrive in infancy, Ankle flexion contracture,... |
ORPHA:284417 |
| Retinitis Pigmentosa 93 |
|
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity |
OMIM:619845 |
| Warburg Micro Syndrome 3 |
|
Bilateral tonic-clonic seizure, Kyphoscoliosis, Postnatal growth retardation, Inability to walk, ... |
OMIM:614222 |
| Joubert Syndrome 6 |
|
Blindness, Ataxia, Chorioretinal coloboma, Oculomotor apraxia, Abnormal repetitive mannerisms, Re... |
OMIM:610688 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment |
ORPHA:75373 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Constriction of peripheral visual field, Ataxia, Spastic par... |
ORPHA:1215 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Cerebral visual impairment, Aggressive behavior, Choreoathetosis, Self-injurious b... |
OMIM:620023 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Infantile spasms, Abnormal repetitive mannerisms, Inability to walk, Generalized non-motor (absen... |
ORPHA:411986 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration... |
OMIM:614292 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Blindness, Diffuse cerebral atrophy, Ataxia, Central scotoma, Optic atrophy, ... |
ORPHA:543470 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Decreased bod... |
OMIM:618392 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... |
OMIM:612438 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Constriction of peripheral visual field, Incoordination, Patchy atrophy of the retinal pigment ep... |
ORPHA:436245 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Kyphosis, Obesity, Seizure, Scoliosis |
ORPHA:276630 |
| Unilateral Focal Polymicrogyria |
|
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Aggressive behavior, Foc... |
ORPHA:268947 |
| Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Nyctalopia, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Seizure, Colpocephaly |
OMIM:614870 |
| Cockayne Syndrome |
|
Progressive gait ataxia, Congenital contracture, Gliosis, Retinal arteriolar constriction, Retina... |
ORPHA:191 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Optic disc pallor, Ataxia, Failure to thrive in infancy, Kyphoscol... |
OMIM:610377 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Ataxia, Short stature, Aggressive behavior, Hydrocephalus, Optic atrophy, Sel... |
OMIM:619833 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Severe temper tantrums, Generalized non-motor (absence) seizure, ... |
OMIM:619854 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Bilateral tonic-clonic seizure, Short stature, Aggressive behavior, Kyphosis,... |
ORPHA:364028 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Seizure, Gait disturbance, Scoliosis |
ORPHA:85317 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia, Infantile spasms, Tonic seizure, Focal motor seizure, Myoclonic seizure, ... |
OMIM:618890 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Intestinal malrotation, Tracheoesophageal fistula, High palate, Scolio... |
ORPHA:115 |
| Sulfite Oxidase Deficiency, Isolated |
|
Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Choreoathetosis, Agitation |
OMIM:272300 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Cerebellar atrophy, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Generalized non-... |
OMIM:618170 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
ORPHA:79137 |
| Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Short stature, Growth delay, Seizure, Decreased body weight, Intrauterine gro... |
OMIM:618347 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Immunoneurologic Disorder, X-Linked |
|
Nyctalopia, Small for gestational age |
OMIM:300076 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
| Adducted Thumbs Syndrome |
|
Arthrogryposis multiplex congenita, Myelin-dependent gliosis, Dysphagia |
OMIM:201550 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... |
ORPHA:440727 |
| Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, H... |
OMIM:617053 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Reduced ... |
ORPHA:309263 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Short stature, Cryptorchidism, Polyphagia, Growth delay, Seizure, Self-inj... |
ORPHA:228402 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Seizure, Lateral ventricle dilatation |
OMIM:300982 |
| Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tonic stat... |
OMIM:619913 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Central scotoma, Optic atrophy, Dis... |
OMIM:601152 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
| Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Seizure, Type II diabetes mellitus, Scoliosi... |
ORPHA:2047 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Impair... |
ORPHA:71 |
| Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neonatal se... |
ORPHA:140927 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Short stature, Hyperlordosis, Aggressive behavior, Seizure, Self-injurious behavior, Gait... |
OMIM:300986 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Myopia, Blindness, Optic nerve hypoplasia, Clonus, Optic atrophy, Abnormal py... |
ORPHA:370959 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Hepatomegaly, Blindness, Constriction of peripheral visual field, Chroni... |
OMIM:203800 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Recurrent phar... |
ORPHA:293978 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Cryptorchidism, Seizure, Attention deficit hyperactivity disorder, Agenesis of corpus c... |
OMIM:615433 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Kyphoscoliosis, Distal sensory impairment |
OMIM:118200 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Blindness, Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spastic d... |
ORPHA:95433 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Ataxia, Limb joint contracture, Short stature, Flexion contracture, Truncal o... |
OMIM:301072 |
| Methanol Poisoning |
|
Blindness, Confusion, Addictive alcohol use, Abnormal optic nerve morphology, Visual impairment, ... |
ORPHA:31825 |
| Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... |
OMIM:128235 |
| Ebola Hemorrhagic Fever |
|
Sepsis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Premature ovarian insufficiency, Ataxia, Lateral ventricle dilatation, Neurod... |
OMIM:615889 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Blindness, Kyphosis, Macroglossia, Scoliosis, Dysphagia, Achalasia |
ORPHA:79107 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
| Desmoid Tumor |
|
Sepsis |
ORPHA:873 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Incoordination, Tremor, Paraparesi... |
OMIM:302800 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Short stature, Impulsivity, Kyphosis, Cryptorchidism, Flexion contr... |
OMIM:615547 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Visual loss, Partial ... |
ORPHA:300570 |
| Rahman Syndrome |
|
Kyphoscoliosis, Amblyopia |
OMIM:617537 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Impaired vibration sensation at ankles, Dysmetria, Kyphoscoliosis, Dysphagia |
OMIM:275900 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
| Canavan Disease |
|
Blindness, Optic atrophy, Abnormal pyramidal sign, Opisthotonus, Brain atrophy, Visual impairment |
OMIM:271900 |
| Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Babinski sign, Optic atrophy, Impaired proprioception, Limb... |
OMIM:229300 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Sepsis |
ORPHA:544503 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Blindness, Ataxia, Pigmentary retinopathy, Myoclonus, Failure to thrive |
OMIM:560000 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, Myoclo... |
ORPHA:313772 |
| Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
| Autism, Susceptibility To, X-Linked 2 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:300495 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi... |
ORPHA:167 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Myopia, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft verteb... |
OMIM:255800 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Broad-based gait, Hyperlordosis, Kyphosis, Achilles tendon contra... |
OMIM:615290 |
| Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Seizure, Gait disturbance, Scoliosis |
ORPHA:2429 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, High palate, Abnormal anterior horn cell morphology, Kyphosc... |
ORPHA:1145 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
| Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short stature, Cerebral atrophy, Camptodactyly |
OMIM:618453 |
| 1Q44 Microdeletion Syndrome |
|
Optic disc hypoplasia, Short stature, Bilateral tonic-clonic seizure, Hydrocephalus, Growth delay... |
ORPHA:238769 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebellar atrophy, Kyphosis, Impaired vibration sensation in the l... |
OMIM:614409 |
| Band Heterotopia |
|
Hydrocephalus, Seizure, Lateral ventricle dilatation, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:600348 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Limb ataxia, D... |
OMIM:617145 |
| Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Short stature, Kyphosis, Flexion contracture, Seizure, Umbilical hernia,... |
ORPHA:87876 |
| Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Choreoathetosis, Myoclonic seizure, Abnormal repetitive mannerisms, Tonic se... |
OMIM:619777 |
| Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:618354 |
| Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Neonatal sepsis, Recurrent infections |
OMIM:614739 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Dysplastic corpus... |
OMIM:617281 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Flexion contracture, Generalized non-motor (absence) seizure, Sei... |
OMIM:616281 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Pain insensitivity, Ataxia, Tonic seizure, Cryptorchidism, Chorea, Repetitive compulsive behavior... |
OMIM:300260 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... |
OMIM:300894 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Diabetes mellitus, Small for gestational age, Bilateral tonic-cloni... |
OMIM:619278 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Bilateral tonic-clonic seizure, Ankle flexion contracture, Hypoglycemia, Gait imba... |
OMIM:618120 |
| Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... |
ORPHA:51636 |
| Papillorenal Syndrome |
|
Retinal detachment, Short stature, Morning glory anomaly, Macular hyperpigmentation, Optic disc c... |
OMIM:120330 |
| Developmental And Epileptic Encephalopathy 64 |
|
Inability to walk, Chorea, Seizure, Self-injurious behavior, Status epilepticus, Bruxism, Abnorma... |
OMIM:618004 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Short stature, Inability to walk, Dystonic gait, Gliosis, Difficulty walking, Failure to ... |
ORPHA:280210 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve conduction... |
ORPHA:101075 |
| Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... |
OMIM:618323 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Small for gestational age, Parkinsonism, Progressive neurologic deterioration, ... |
OMIM:261640 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Sepsis |
ORPHA:313 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Cerebral atrophy,... |
OMIM:617916 |
| Lassa Fever |
|
Increased circulating IgM level, Sepsis |
ORPHA:99824 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Failure to thrive, Bilateral tonic-clonic seizure, Focal motor seizure, Cerebral atrophy |
OMIM:618235 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Inguinal hernia, Multiple joint contractures, Ataxia, Multifocal seizures, Bi... |
OMIM:618143 |
| Mucopolysaccharidosis Type 3 |
|
Progressive neurologic deterioration, Abnormal pyramidal sign, Hypertonia, Loss of ambulation, Re... |
ORPHA:581 |
| Oculocutaneous Albinism Type 6 |
|
Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho... |
ORPHA:370097 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Failure to thrive in infancy, Short stature, Impaired pain sensation, Obesity... |
ORPHA:819 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete... |
ORPHA:240085 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Abnormal retinal morphology, Kyphoscoliosis, Abnormality of the ver... |
OMIM:610758 |
| Ck Syndrome |
|
Hyperactivity, Hyperlordosis, Aggressive behavior, Kyphosis, Seizure, Scoliosis, Slender build |
OMIM:300831 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom... |
OMIM:208920 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... |
ORPHA:40 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Myoclonic seizure, Abnormal r... |
OMIM:619877 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Broad-based gait, Infantile spasms, Unsteady gait, Myoclonic seizure, Scoliosis,... |
OMIM:618205 |
| Chromosome 16Q12 Duplication Syndrome |
|
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... |
OMIM:619649 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ventriculomegaly, Sclerotic vertebral body, Ataxia, Kyphosis, Focal-onset seizure, Hydrocephalus,... |
OMIM:618476 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Hypertonia, Visual impairment |
ORPHA:1368 |
| Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Chorea, Babinski sign, Op... |
ORPHA:95 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Reduced visual acuity, Gait at... |
ORPHA:309256 |
| Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Bilateral tonic-clonic seizure with focal onset, Aggressive behavio... |
ORPHA:488627 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Generalized non-motor (absence) seizure, Obesity, Seizure, Abnormal repetitive manner... |
OMIM:613886 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Impaired vibration sensation in the lower limbs, Spastic gait, Difficulty walking |
ORPHA:401815 |
| Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Seizure, Attention defici... |
OMIM:301029 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Focal-onset seizure, Seizure, Lateral ventricle dilatation, Abnormal temper t... |
ORPHA:300573 |
| Helsmoortel-Van Der Aa Syndrome |
|
Gliosis, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Short stature, Faci... |
OMIM:615873 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Chaddock reflex, Nyctalopia, Optic atrophy, Impaired propri... |
ORPHA:96180 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign,... |
ORPHA:363400 |
| White-Sutton Syndrome |
|
Cerebellar atrophy, Myopia, Hyperactivity, Blindness, Incoordination, Aggressive behavior, Optic ... |
ORPHA:468678 |
| Retinitis Pigmentosa 23 |
|
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... |
OMIM:300424 |
| Angelman Syndrome |
|
Hyperactivity, Ataxia, Tongue thrusting, Obesity, Seizure, Myoclonus, Scoliosis, Atypical absence... |
ORPHA:72 |
| Legionnaires Disease |
|
Splenomegaly, Recurrent pharyngitis, Sepsis, Bone marrow hypocellularity, Lymphopenia |
ORPHA:549 |
| Alg12-Cdg |
|
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... |
ORPHA:79324 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia |
OMIM:615181 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depressi... |
OMIM:619738 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
| Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Ataxia, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior bea... |
OMIM:230650 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Hydrocephalus, Atrophy of the spinal... |
ORPHA:395 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Oculomotor apraxia, Nyctalopia, Obesity, Retinal degeneration |
OMIM:615630 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Ataxia, Impulsivity, Inability to walk, Seizure, Lateral ventricle dilatation, ... |
OMIM:617854 |
| Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Thoracic kyphosis, Gliosis, Abnormality of the vertebral spinous processes, ... |
ORPHA:909 |
| 5Q14.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Seizure, Frontal cortical atrophy, Abnormal repetitive mannerisms, Ventri... |
ORPHA:228384 |
| Richieri Costa-Da Silva Syndrome |
|
Kyphoscoliosis, Short neck, Vertebral wedging, Decreased anterioposterior diameter of lumbar vert... |
ORPHA:3101 |
| Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile... |
ORPHA:352582 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Short stature, Small for gestational age, Oral-pharyngeal dysphagia, Seizure, Scol... |
OMIM:610883 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los... |
OMIM:604377 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Myopia, Dystonia, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dys... |
OMIM:614381 |
| Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Abnormal repetitive mannerisms, Seizure, Self-injurious behavior, Comp... |
OMIM:613174 |
| Peroxisome Biogenesis Disorder 9B |
|
Constriction of peripheral visual field, Ataxia, Nyctalopia, Reduced visual acuity, Rod-cone dyst... |
OMIM:614879 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... |
ORPHA:37042 |
| Halperin-Birk Syndrome |
|
Inguinal hernia, Generalized-onset seizure, Congenital diaphragmatic hernia, Focal-onset seizure,... |
OMIM:618651 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Chorea, Ataxia, Kyphoscoliosis |
OMIM:604168 |
| Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... |
OMIM:613767 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Kyphoscoliosis, Distal sensory impairment |
OMIM:214400 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
| You-Hoover-Fong Syndrome |
|
Ataxia, Kyphoscoliosis, Cerebral visual impairment, Cleft palate, Paroxysmal bursts of laughter |
OMIM:616954 |
| Cri-Du-Chat Syndrome |
|
Myopia, Hyperactivity, Short attention span, Small for gestational age, Aggressive behavior, Opti... |
OMIM:123450 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... |
OMIM:264420 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Abn... |
ORPHA:103907 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Bilateral tonic-clonic seizure with focal onset, Aggressive behavior, Foca... |
ORPHA:163681 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Bilateral tonic-clonic seizure, Ankle flexion contracture, Flexion contracture, ... |
OMIM:617468 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
| Avian Influenza |
|
Leukopenia, Lymphopenia, Sepsis, Thrombocytopenia |
ORPHA:454836 |
| Bardet-Biedl Syndrome 1 |
|
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Ataxia... |
OMIM:209900 |
| Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Myopia, Ataxia, Tremor, Inability to walk, Hypermetropia, Hypertonia, Attention deficit hyperacti... |
OMIM:619556 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Cerebellar atrophy, Ventriculomegaly, Multifocal seizures, Ataxia, Aggr... |
ORPHA:572798 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hyperlordosis, Inability to walk, Seizure, Gliosis, Dysphagia |
ORPHA:26791 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness, Ataxia |
OMIM:271250 |
| Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Submucous cleft hard p... |
OMIM:114300 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Episodic ataxia, Paresthesia, Bilateral tonic-clonic seizure |
ORPHA:53583 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Blindness, Abnormality of macular pigmentation |
ORPHA:1573 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
| Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Hyperactivity, Short stature, Aggressive behavior, Obesity, Seizure, Self-inj... |
OMIM:600430 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Hypoglycemia, Aggressive behavior, Unsteady gait, Seizure, Lateral ventricle dilatation, ... |
ORPHA:457279 |
| Malan Overgrowth Syndrome |
|
Optic disc pallor, Optic disc hypoplasia, Seizure, Lateral ventricle dilatation, Scoliosis, Episo... |
ORPHA:420179 |
| Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar... |
ORPHA:2388 |
| Scholte Syndrome |
|
Kyphoscoliosis |
OMIM:300977 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Blindness, Hepatomegaly, Optic atrophy, Elevated circula... |
OMIM:259700 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Cerebral visual impairment, Attention deficit hy... |
OMIM:620141 |
| Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Fo... |
OMIM:620028 |
| White-Sutton Syndrome |
|
Waddling gait, Myopia, Hyperactivity, Optic nerve hypoplasia, Mild myopia, Aggressive behavior, R... |
OMIM:616364 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Impulsivity, Aggressive behavior, Overweight, Kyphosis, Cryptorchidism, Flexion co... |
ORPHA:500055 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Obesity, Seizure, Gait ... |
OMIM:619312 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Seizure, Scoliosis |
OMIM:300861 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Blindness, Agenesis of corpus callosum, Optic nerve hypoplasia, Attention deficit hyperactivity d... |
OMIM:617914 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Cleft palate, Gloss... |
OMIM:611209 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Infantile spasms, Kyphosis, Cryptorchidism, Cerebral atrophy, Seizure, Scolio... |
OMIM:619797 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pain insensitivity, Bilateral tonic-clonic seizure, Hypoglycemia, Infantile spasms, Short neck, C... |
OMIM:620224 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Kyphosis, Impaired proprioception, Failure to thrive, Ventriculomegaly |
ORPHA:319199 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Small for gestational age, Kyphoscoliosis, Short neck, Scoliosis, Decreased body weight |
ORPHA:391408 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Kyphosis, Optic atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormal autono... |
OMIM:610743 |
| Melas |
|
Diabetes mellitus, Ataxia, Bilateral tonic-clonic seizure, Short stature, Hypogonadotropic hypogo... |
ORPHA:550 |
| Joubert Syndrome With Oculorenal Defect |
|
Blindness, Retinal dystrophy, Aganglionic megacolon, Ataxia, Scoliosis, Chorioretinal coloboma, V... |
ORPHA:2318 |
| Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... |
OMIM:216900 |
| Febrile Seizures, Familial, 11 |
|
Hippocampal atrophy, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
OMIM:614418 |
| Oculopharyngodistal Myopathy 3 |
|
Ataxia, Tremor, Photophobia, Pigmentary retinopathy, Dysphagia |
OMIM:619473 |
| Gm2-Gangliosidosis, Ab Variant |
|
Blindness, Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyrami... |
OMIM:272750 |
| Sialidosis Type 1 |
|
Ataxia, Short stature, Decreased nerve conduction velocity, Kyphosis, Abnormal form of the verteb... |
ORPHA:812 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Seizure, Scoliosis, Attention deficit hyperactivity diso... |
OMIM:618825 |
| Infant Acute Respiratory Distress Syndrome |
|
Sepsis |
ORPHA:70587 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... |
OMIM:210370 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Retinal detachment, Myopia, Cervical kyphosis, Kyphoscoliosis, Dysesthesia, Malrotation of small ... |
ORPHA:2953 |
| Retinitis Pigmentosa 75 |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... |
OMIM:617023 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Visual loss, Subcortical dementia, Hemiparesis, Memory impairment, Pseudobulbar paralysis, Dement... |
OMIM:125310 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Abnormal repetitive mannerisms, Growth delay, Seizure, Scoliosis, Agenesis of corpus ca... |
ORPHA:261144 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Kyphosis, Gait disturbance,... |
ORPHA:101078 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
| Cone-Rod Dystrophy 19 |
|
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my... |
OMIM:615860 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Confusion, Paraplegia, Agitation, Cognitive impairment, Emotional lability, Failure to th... |
ORPHA:927 |
| Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Paresthesia |
ORPHA:73256 |
| Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Dysesthesia, Fo... |
ORPHA:1945 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Ankle flexion contracture, Focal-onset seizure, Inability to walk, Cerebral a... |
OMIM:617802 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Self-biting, Growth delay, Seizure, Hypogonad... |
ORPHA:3306 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Optic disc pallor, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platys... |
OMIM:300232 |
| Osteogenesis Imperfecta, Type Xi |
|
Kyphoscoliosis, Vertebral wedging, Elevated circulating alkaline phosphatase concentration, Bicon... |
OMIM:610968 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Optic disc hypoplasia, Short neck, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of... |
OMIM:619955 |
| Calciphylaxis |
|
Sepsis |
ORPHA:280062 |
| Rett Syndrome |
|
Short stature, Cachexia, Kyphosis, Gait apraxia, Bruxism, Gait ataxia, Seizure, Scoliosis, Trunca... |
OMIM:312750 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
| Parkinson Disease 1, Autosomal Dominant |
|
Gliosis, Myoclonus, Gait disturbance, Dysphagia, Loss of ambulation, Shuffling gait, Global brain... |
OMIM:168601 |
| Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharos... |
ORPHA:683 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, High palate, Bifid uvula |
OMIM:612350 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short neck, Cryptorchidism, Abnormal repetitive mannerisms, Seizure, Scoliosis, Attention deficit... |
OMIM:620073 |
| Acrootoocular Syndrome |
|
Small for gestational age, Kyphoscoliosis, High, narrow palate, Pseudopapilledema, Choking episod... |
ORPHA:2980 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemia, Opti... |
ORPHA:480864 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inguinal hernia, Epileptic spasm, Bilateral tonic-clonic seizure, Short stature, Generalized non-... |
ORPHA:79351 |
| Adult Acute Respiratory Distress Syndrome |
|
Sepsis |
ORPHA:70578 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss... |
OMIM:137440 |
| Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Amblyopia, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoatheto... |
OMIM:615673 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Myopia, Optic atrophy, Hypertonia, Gait disturbance, Abnormality of visual evoked potentials, Fai... |
ORPHA:2971 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertonia, Retinal degeneration, Opisthotonus |
OMIM:616896 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Ataxia, Hemiplegia/hemiparesis, Nyctalopia, Abnormal pyramid... |
ORPHA:773 |
| Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Cerebral atrophy, Choreoathetosis, Status epilep... |
OMIM:612164 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ... |
OMIM:616648 |
| Night Blindness, Congenital Stationary, Type 1E |
|
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia |
OMIM:614565 |
| Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Seizure, Scoliosis, Intrauterine growth r... |
OMIM:234250 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Poor coordination, Depressio... |
OMIM:620242 |
| Sneddon Syndrome |
|
Tremor, Chorea, Visual field defect, Hemiparesis, Dementia, Mental deterioration, Memory impairme... |
ORPHA:820 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Febrile seizure outside the age of 3 months to 6 years, Unilateral cryptorchidism, Aggressive beh... |
OMIM:617788 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Cachexia, Hypoglycemia, Distal arthrogryposis, Febrile se... |
ORPHA:42 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Blindness, Retinal dystrophy, Ataxia |
ORPHA:713 |
| Necrotizing Enterocolitis |
|
Neonatal sepsis, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... |
OMIM:271530 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
High palate, Kyphoscoliosis |
OMIM:616470 |
| Sturge-Weber Syndrome |
|
Retinal detachment, Blindness, Abnormal retinal vascular morphology, Optic atrophy, Abnormality o... |
ORPHA:3205 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Blindness, Gastroesophageal reflux, Scoliosis |
ORPHA:3137 |
| Joubert Syndrome 35 |
|
Ataxia, Nyctalopia, Progressive visual loss, Oculomotor apraxia, Rod-cone dystrophy |
OMIM:618161 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorchid... |
OMIM:617796 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Blindness, Cachexia, Optic atrophy, Scoliosis, Failure to thrive, ... |
OMIM:610965 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Nyctalopia, Abnormality of pattern visual evoked potentials, Visual field defect, Rod-cone dystro... |
ORPHA:166035 |
| Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Abscess, Increased circulating myelocyte count, Sepsis, Incre... |
ORPHA:36234 |
| Sandhoff Disease |
|
Orthostatic hypotension, Blindness, Ataxia, Exaggerated startle response, Impaired temperature se... |
OMIM:268800 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Growth delay, Self-injurious behavior, Seizure, Scoliosis |
OMIM:617768 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
| Seckel Syndrome 8 |
|
Kyphoscoliosis |
OMIM:615807 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Seizure, Compulsive behaviors, Scoliosis, Ab... |
OMIM:618430 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Retinal dystrophy, Peripheral retinal de... |
ORPHA:168549 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Optic nerve hypoplasia, Kyphoscoliosis, High, narrow palate, High palate, Attention deficit hyper... |
OMIM:612513 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Abnormal eating behavior, Obsessive-compulsive trait, Gait dis... |
ORPHA:544254 |
| Acute Lung Injury |
|
Sepsis |
ORPHA:178320 |
| Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
| Asparagine Synthetase Deficiency |
|
Blindness, Exaggerated startle response, Caudate atrophy, Optic nerve hypoplasia, Clonus, Cerebra... |
OMIM:615574 |
| Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Blindness, Ataxia, Extrapyramida... |
ORPHA:67036 |
| X-Linked Immunoneurologic Disorder |
|
Hemiplegia/hemiparesis, Nyctalopia, Hypertonia, Decreased circulating IgG2 level |
ORPHA:2571 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Kyphoscoliosis |
OMIM:300886 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, A... |
OMIM:606612 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Decreased nerve conduction velocity, Kyphosis, Axonal degeneration, Elbow flexion ... |
OMIM:618138 |
| Baralle-Macken Syndrome |
|
Focal-onset seizure, Kyphosis, Inability to walk, Obesity, Global brain atrophy |
OMIM:619255 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Myopia, Cleft soft palate, Kyphoscoliosis, Platyspondyly, Abnormality of the vertebral column, Ga... |
ORPHA:93316 |
| Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Chorioreti... |
OMIM:618733 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... |
ORPHA:457351 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Seizure, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Ventriculomegaly |
ORPHA:85277 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Cryptorchidism, Seizure, Scoliosis, Umbilical hernia, Abnormal repetitive mann... |
ORPHA:500159 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Kyphoscoliosis |
OMIM:255710 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Involuntary movements, Optic nerve hypoplasia, Cerebral visual impairment, Dysphagia, Spasticity,... |
ORPHA:572013 |
| Supranuclear Palsy, Progressive, 1 |
|
Akinesia, Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Dysphagia, Gliosis, Gait ... |
OMIM:601104 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, H... |
OMIM:616875 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Progressiv... |
ORPHA:1170 |
| Melioidosis |
|
Brain abscess, Liver abscess, Lung abscess, Abnormality of the spleen, Sepsis, Splenic abscess, C... |
ORPHA:31202 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, Atrophy of the spinal co... |
ORPHA:329308 |
| Trichothiodystrophy |
|
Ventriculomegaly, Multiple joint contractures, Generalized-onset seizure, Cryptorchidism, Partial... |
ORPHA:33364 |
| Cockayne Syndrome A |
|
Loss of facial adipose tissue, Retinal atrophy, Ataxia, Short stature, Retinal pigment epithelial... |
OMIM:216400 |
| Usher Syndrome Type 2 |
|
Myopia, Ataxia, Scotoma, Visual loss, Nyctalopia, Depression, Subcortical cerebral atrophy, Hemia... |
ORPHA:231178 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... |
OMIM:610042 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Bilateral tonic-clonic seizure, Retinal dystrophy, Tonic seizure, Aqueductal steno... |
OMIM:619512 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... |
OMIM:616468 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Myopia, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Increased cerebral lipofuscin, S... |
OMIM:610539 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Optic atrophy, Growth delay, Scoliosi... |
ORPHA:496641 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Cognitive impairment... |
ORPHA:542310 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Tremor, Diplopia, Amyloid deposition in the vitreous humor, Abnormal pyramidal... |
OMIM:105210 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Ataxia, Kyphoscoliosis, Spinal rigidity, Diplopia, High palate, G... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Ataxia, Kyphoscoliosis, Spinal rigidity, Diplopia, High palate, G... |
ORPHA:590 |
| Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Tremor, Rigidity, Diplopia, Depression, Bradyki... |
ORPHA:2828 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Blindness, Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Abnormal pyramidal sign, Mental... |
OMIM:612199 |
| Generalized Pustular Psoriasis |
|
Leukocytosis, Lymphopenia, Sepsis |
ORPHA:247353 |
| Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
| Hypermanganesemia With Dystonia 2 |
|
Progressive neurologic deterioration, Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinso... |
OMIM:617013 |
| Vici Syndrome |
|
Decreased circulating IgG level, Macular atrophy, Decreased circulating IgG2 level, Ocular albini... |
OMIM:242840 |
| Inhalational Anthrax |
|
Sepsis |
ORPHA:247257 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Inability to walk, Gait ataxia, Lateral ventricle dilatation, Status epilepticus, Failure to thri... |
OMIM:618606 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:613291 |
| Pelger-Huet Anomaly |
|
Bilateral tonic-clonic seizure, Kyphosis, Seizure, Umbilical hernia, Failure to thrive, Mild shor... |
OMIM:169400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Bilateral tonic-clonic seizure, Inflexible adherence to routines |
OMIM:301076 |
| Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microcytic an... |
ORPHA:906 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Short stature, Aganglionic megacolon, Inability to walk, Generali... |
OMIM:614207 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Blindness, Kyphoscoliosis, Kyphosis, Retinal calcification, Exudative retinopathy, Platyspondyly,... |
OMIM:259770 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Leukopenia, Incre... |
ORPHA:505248 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Alazami Syndrome |
|
Abnormal eating behavior, Postnatal growth retardation, Seizure, Scoliosis, Abnormal repetitive m... |
ORPHA:319671 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis, Seizure, Ataxia, Horner syndrome |
OMIM:141300 |
| Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Aggressive behavior, Corpus callosum atrophy, Kyphosis, Cryptorchidism, Cerebral atrophy, Seizure... |
OMIM:619244 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Cerebral atrophy, Growth delay, Seizure... |
OMIM:252160 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ventriculomegaly, Small for gestational age, Bilateral tonic-clonic seizure, Short stature, Short... |
OMIM:257300 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Blindness, Exaggerated startle response, Hypertonia, Dementia, Cherry ... |
OMIM:272800 |
| Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Pain insensitivity, Oral-pharyngeal dysphagia, Chorea, Dysmetria, Myoclonic seizure... |
OMIM:615273 |
| Slc35A2-Cdg |
|
Cerebellar atrophy, Limb joint contracture, Failure to thrive in infancy, Camptodactyly of finger... |
ORPHA:356961 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Hypogonadism, Decreased testicular size, Gait disturbance |
ORPHA:1875 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Kyphoscoliosis |
OMIM:610756 |
| Meningococcal Meningitis |
|
Sepsis |
ORPHA:33475 |
| Bilateral Polymicrogyria |
|
Cerebellar atrophy, Ventriculomegaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, ... |
ORPHA:268940 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Blindness, Remnants of the hyaloid vascular system, Facial palsy, Bi... |
ORPHA:637 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Short stature, Kyphosis, Scoliosis, Um... |
OMIM:615834 |
| Central Core Disease |
|
Kyphoscoliosis |
ORPHA:597 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Poor fine ... |
ORPHA:79282 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... |
ORPHA:352731 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Diplopia, Weight loss, B... |
ORPHA:411602 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Sepsis |
OMIM:614886 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... |
ORPHA:98768 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Spastic paraplegia, Babinski sign, Abnormal pyramidal sign, Hyperme... |
ORPHA:459056 |
| Cystinosis |
|
Abnormal pyramidal sign, Photophobia, Gait disturbance, Retinopathy, Polydipsia, Failure to thriv... |
ORPHA:213 |
| Wolfram Syndrome, Mitochondrial Form |
|
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Scissor gait, Dysmetria, Growth delay, Facial diplegia, Scoliosis, Truncal a... |
OMIM:619121 |
| Dk1-Cdg |
|
Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Focal-onset seizure, Seizure, Fa... |
ORPHA:91131 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Seizure, Lateral ventricle dilatation, Cerebral cortical atrophy |
OMIM:617668 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Seizure, Gliosis |
OMIM:608033 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Nyctalopia |
OMIM:277350 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cryptorc... |
OMIM:619103 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Cerebral atrophy, Status epilepticus,... |
OMIM:616672 |
| Pyruvate Carboxylase Deficiency |
|
Ataxia, Hypoglycemia, Infantile spasms, Generalized clonic seizure, Anorexia, Cerebellar gliosis,... |
ORPHA:3008 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Blindness, Ataxia, Optic atrophy, Tetraplegia, Visual ... |
ORPHA:1187 |
| Madras Motor Neuron Disease |
|
Facial palsy, Babinski sign, Optic atrophy, Reduced visual acuity, Limb fasciculations, Dysphagia... |
ORPHA:137867 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Spasticity, Rapid neurologic deterioration, Retinal... |
OMIM:272200 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Growth delay, Seizure, Gliosis |
ORPHA:3240 |
| Familial Acute Necrotizing Encephalopathy |
|
Seizure, Gliosis, Gait disturbance |
ORPHA:88619 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Dystonia, Aganglionic megacolon, Aggressive behavior, Hypermetr... |
OMIM:300352 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
| Alg2-Cdg |
|
Seizure, Lateral ventricle dilatation, Infantile spasms |
ORPHA:79326 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Hepatic failure,... |
OMIM:235555 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Myopia, Amblyopia, Attention deficit hyperactivity disorder, Compulsive behaviors, Recurrent hand... |
OMIM:620021 |
| Weaver Syndrome |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Kyphosis, Cryptorchidism, Generalized non-motor ... |
OMIM:277590 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s... |
ORPHA:2968 |
| Abetalipoproteinemia |
|
Ataxia, Retinopathy, Retinal degeneration |
OMIM:200100 |
| Rett Syndrome |
|
Inability to walk, Seizure, Agitation, Abnormal autonomic nervous system physiology, Scoliosis, G... |
ORPHA:778 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Febrile seizure (... |
OMIM:616973 |
| Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Ataxia, Short stature, Hypergonadotropic hypogonadism, Kyphosis, Flexion cont... |
OMIM:248800 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
| Developmental And Epileptic Encephalopathy 90 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Cerebral atrophy, Focal impaired awareness s... |
OMIM:301058 |
| Idiopathic Uveal Effusion Syndrome |
|
Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d... |
ORPHA:209956 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Failure to thrive, Optic disc pallor, Small for gestational age, Ankle flexio... |
ORPHA:464311 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Myopia, Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventri... |
OMIM:618914 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Sepsis |
ORPHA:247691 |
| Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Sepsis, Anemia |
ORPHA:36426 |
| Arthrogryposis, Distal, Type 2A |
|
Failure to thrive, Small for gestational age, Kyphoscoliosis, Short neck, High palate, Scoliosis,... |
OMIM:193700 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Short neck, Hydrocephalus, Cerebral atrophy, Growth delay, Seizure, Colpocephaly, Congenital cont... |
OMIM:620156 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Large central visual field defec... |
ORPHA:580 |
| Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
| Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
| Bethlem Myopathy 2 |
|
Kyphosis, Atrophic scars, Flexion contracture, Scoliosis |
OMIM:616471 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Ataxia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, K... |
ORPHA:435638 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Myopia, Ataxia, Kyphoscoliosis, Aggressive behavior, Impulsivity, Dysplastic corpus callosum, Kyp... |
OMIM:300967 |
| Distal Deletion 12Q |
|
Hyperactivity, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Impaired pain sensation,... |
ORPHA:96149 |
| Srd5A3-Cdg |
|
Cerebellar atrophy, Optic disc hypoplasia, Ataxia, Kyphosis, Abnormal sacrum morphology, Optic at... |
ORPHA:324737 |
| Scedosporiosis |
|
Sepsis |
ORPHA:449280 |
| Developmental And Epileptic Encephalopathy 87 |
|
Infantile spasms, Cerebral atrophy, Seizure, Scoliosis, Recurrent hand flapping |
OMIM:618916 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Optic neuropathy, Axonal degeneration, Subependymal cysts, Neurod... |
ORPHA:478029 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Diabetes mellitus, Bilateral tonic-clonic seizure |
OMIM:540000 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Bilateral tonic-clonic seizure, Hyperlordosis, Chorea, Difficulty walking, Truncal... |
ORPHA:369840 |
| Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, V... |
ORPHA:1933 |
| Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Hyperactivity, Aggressive behavior, Visual loss, Diplopia, Visual fi... |
ORPHA:43 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Sepsis, Eosinophilia |
ORPHA:199299 |
| Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
| Bainbridge-Ropers Syndrome |
|
Cryptorchidism, Inability to walk, Recurrent hand flapping, Growth delay, Contracture of the prox... |
OMIM:615485 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Seizure, Febrile seizure (within the age range... |
OMIM:615516 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irritability,... |
OMIM:233910 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Flexion contracture, Increased body weight, Chorioretinal hypopig... |
ORPHA:398069 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Abnormal repetitive mannerisms, Obesity, Choreoathetosis, Seizur... |
ORPHA:261197 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Bilateral tonic-clonic seizure, Macular coloboma, Short sta... |
ORPHA:423479 |
| Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Depression, Gl... |
OMIM:612953 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
| Lafora Disease |
|
Giant somatosensory evoked potentials, Ataxia, Bilateral tonic-clonic seizure, Bilateral tonic-cl... |
ORPHA:501 |
| Kleefstra Syndrome |
|
Short stature, Aggressive behavior, Cryptorchidism, Abnormal repetitive mannerisms, Self-mutilati... |
ORPHA:261494 |
| Monosomy 18Q |
|
Myopia, Abnormal retinal morphology, Kyphoscoliosis, Choreoathetosis, High palate, Atlantoaxial a... |
ORPHA:1600 |
| Monosomy 18P |
|
Cleft palate, Kyphoscoliosis, Short neck |
ORPHA:1598 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Large for gestational age, Generalize... |
OMIM:615398 |
| Cog5-Cdg |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Short stature, Camptodactyly of finger, Short neck,... |
ORPHA:263487 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating alkaline phos... |
OMIM:601847 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Choroidal neovascularization, Spastic tetraparesis, Macular degeneration, Dystonia, Cerebral cort... |
ORPHA:404451 |
| Marshall-Smith Syndrome |
|
Myopia, Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the odontoid pr... |
OMIM:602535 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Scissor gait, Seizure, Lateral ventricle dilatation, Dilated third vent... |
ORPHA:363654 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Spastic paraplegia, Obesity, Hype... |
OMIM:617296 |
| Contractural Arachnodactyly, Congenital |
|
Myopia, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, High palate, Scoliosis |
OMIM:121050 |
| Carpenter Syndrome |
|
Obesity, Kyphoscoliosis |
ORPHA:65759 |
| Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Short neck, Hyperlordosis, Kyphosis, Chorea, Aqueductal ... |
ORPHA:58 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Generalized-onset seizure, Infantile spasms, Focal-onset seizure, Flexion contracture, Seizure, L... |
ORPHA:2148 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Short neck, Postnatal growth retardation, Kyphosis, Cryptorchidism, Seizure, Con... |
OMIM:248700 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Jejunal atresia, Kyphoscoliosis, Ileal atresia, Dysplastic corpus callosum, Hypermetropia, Colpoc... |
OMIM:618820 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Short neck, Truncal obesity, Seizure, Bruxism, Recurrent hand flapping |
OMIM:613192 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Failure to thrive, Cerebral atrophy |
OMIM:614857 |
| Toxic Epidermal Necrolysis |
|
Recurrent respiratory infections, Sepsis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:537 |
| D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Corpus c... |
OMIM:261515 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Myopia, Blindness, Aganglionic megacolon, Spastic paraplegia, Optic atrophy, Depression, Self-inj... |
ORPHA:847 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Irritability, Dystonia |
OMIM:612126 |
| Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Platyspondyly, Scoliosis, Decreased body weight |
OMIM:614856 |
| Progressive Pseudorheumatoid Dysplasia |
|
Platyspondyly, Sclerotic vertebral endplates, Kyphoscoliosis, Decreased cervical spine mobility |
OMIM:208230 |
| Norrie Disease |
|
Retinal detachment, Blindness, Aggressive behavior, Optic atrophy, Dementia, Retinal dysplasia, R... |
OMIM:310600 |
| Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita |
OMIM:618393 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Overweight, Repetitive compulsive behavior, Flexion contracture, Seizure, Atte... |
ORPHA:391372 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Seizure, Falls, Gliosis, Difficulty walking, Ventriculomegaly |
OMIM:618222 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Abnormal repetitive mannerisms, Broad-based gait, Bilateral tonic-clonic seizure, Bruxism |
OMIM:616351 |
| X-Linked Intellectual Disability, Wilson Type |
|
Inguinal hernia, Growth delay, Seizure, Lateral ventricle dilatation, Hydrocele testis |
ORPHA:85290 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Facial palsy, Distal sensory impairment, Lateral ventricle dilatation, Steppage gait, Scoliosis |
OMIM:256850 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Small for gestational age, Bilateral tonic-clonic seizure, Impaired tactile s... |
ORPHA:453510 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Hepatic cysts, Kyphoscoliosis, Platyspondyly, Cervical instability, Thoracolumbar kyphosis, Anal ... |
OMIM:617425 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Short stature, Proportionate short stature, Choroid plexus cyst, Generalized non-motor (absence) ... |
OMIM:612337 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis |
OMIM:184252 |
| Albers-Schönberg Osteopetrosis |
|
Blindness, Optic atrophy, Facial palsy, Visual impairment |
ORPHA:53 |
| Amish Lethal Microcephaly |
|
Optic atrophy, Agenesis of corpus callosum, Ventriculomegaly, Bilateral tonic-clonic seizure |
ORPHA:99742 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Ataxia, Kyphoscoliosis, Hepatosplenomegaly, Macroglossia, High pa... |
ORPHA:397709 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Short stature, Infantile spasms, Myoclonic seizure, Seizure, Foca... |
OMIM:618325 |
| Shigellosis |
|
Abscess, Leukocytosis, Sepsis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocytopenia |
ORPHA:810 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic failure, Protein-losing enteropathy, Hepatic fibrosis, Cir... |
OMIM:602579 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Inability to walk, Growth delay, Seizure, Focal impaired awarenes... |
ORPHA:488613 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... |
OMIM:257270 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature, Abnormal retinal morphology |
ORPHA:2786 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Bilateral tonic-clonic seizure, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Cryptorch... |
OMIM:301040 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Tics, Chorioretinal coloboma, Compulsive behaviors, Abnormal repetitive manne... |
OMIM:619475 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Short neck, Cerebral visual impairment, Hypermetropia, High palate, Gastroesophag... |
OMIM:615803 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Thoracolumbar scoliosis, Short stature, Hy... |
OMIM:618443 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
| De Sanctis-Cacchione Syndrome |
|
Severe short stature, Ataxia, Bilateral tonic-clonic seizure, Bilateral cryptorchidism, Axonal de... |
OMIM:278800 |
| Hurler Syndrome |
|
Inguinal hernia, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion... |
OMIM:607014 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Frontotemporal dementia, Weight loss, Bradykinesia, Dep... |
OMIM:168605 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Jaun... |
ORPHA:30391 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis, Dysdiadochokinesis, Gait disturbance, Difficulty walking, Truncal ataxia |
ORPHA:309854 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Kyphosis, Dysphagia, Seizure, Self-injurious behavior, C... |
OMIM:617061 |
| Radiation Proctitis |
|
Rectal abscess, Sepsis |
ORPHA:70475 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Optic disc pallor, Multiple joint contractures, Severe short stature, Camptod... |
ORPHA:468631 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Overweight, Dilated third ventricle, Hydrocephalus, Head-banging, Seizure, Lateral... |
OMIM:619575 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, Dystonic gait, Cerebr... |
ORPHA:480898 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Ataxia, Hypoglycemia, Rod-cone dystrophy, Cerebral atrophy, Seizure, Recurren... |
OMIM:124000 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los... |
OMIM:175500 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Optic nerve hypoplasia, Ventriculomegaly, Bilateral tonic-clonic seizure |
OMIM:618381 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Sepsis |
ORPHA:505395 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Joint contracture, Cerebral atrophy |
OMIM:618266 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Dys... |
ORPHA:98794 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Dyspha... |
ORPHA:485421 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Amblyopia, Abnormality of visual evoked p... |
OMIM:617523 |
| Sepsis In Premature Infants |
|
Neonatal sepsis, Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Diplopia, Gait ataxia, Progressive cerebellar ataxia, Abnormality of ... |
ORPHA:98773 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
| Enhanced S-Cone Syndrome |
|
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
| Cog8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Protein-losing enteropathy, Ataxia |
ORPHA:95428 |
| Momo Syndrome |
|
Blindness, Short neck, Obesity, High palate, Retinal coloboma |
OMIM:157980 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Short stature, Thoracolumbar kyphoscoliosis, Short neck, Postnatal growth retardation, Aggressive... |
OMIM:212066 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Kyphoscoliosis, Optic atrophy, Distal sensory impairment, Paresthesia, Scoliosis |
ORPHA:99956 |
| Glutaric Acidemia I |
|
Hypoglycemia, Hydrocephalus, Choreoathetosis, Seizure, Lateral ventricle dilatation, Failure to t... |
OMIM:231670 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod... |
OMIM:617865 |
| Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Thoracic scoliosis, Pilonidal sinus, Hyperactivity, Hepatomegaly, Short neck, Aggre... |
OMIM:252940 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Large for gestational age, Short neck, Flexion contracture, Elbow flexion contra... |
OMIM:300868 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Ataxia, Retinal degeneration |
OMIM:615558 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis o... |
OMIM:618736 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Abnormality of visual evoked... |
ORPHA:512 |
| Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... |
ORPHA:71505 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Optic atrophy, Cerebral atrophy, Seizure, Lateral ventricle dilatation |
OMIM:614219 |
| Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Infa... |
ORPHA:1934 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent infections, Sepsis, Anemia, Decreased circulating antibody level |
ORPHA:79396 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Flexion contracture, Seizure, Scoliosis, Attention deficit hyperactivity disorder... |
OMIM:619293 |
| Chylomicron Retention Disease |
|
Impaired vibratory sensation, Failure to thrive, Accumulation of lipid droplets in small-bowel en... |
OMIM:246700 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Blindness, Optic atrophy, Cerebral atrophy, High myopia |
OMIM:220500 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Hyperactivity, Short stature, Camptodactyly of finger, Cachexia, Short neck, Agg... |
ORPHA:85293 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Lateral ventricle dila... |
OMIM:618291 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Bilateral tonic-clonic seizure, Focal-onset seizure, Cryptorchidism, Scoliosis |
OMIM:618316 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy, Compu... |
OMIM:619405 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Generalized-onset seizure, Small for gestational age, Ataxia, Hypoglycemia, Part... |
OMIM:220111 |
| Holoprosencephaly 5 |
|
Seizure, Lateral ventricle dilatation, Hydrocephalus |
OMIM:609637 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Cerebral atrophy, Growth delay, Seizure, Gliosis, Myoclonic spasms, Ventriculomegaly |
OMIM:252150 |
| Kinsship Syndrome |
|
Sacral dimple, Ventriculomegaly, Bilateral tonic-clonic seizure, Short stature, Short neck, Focal... |
OMIM:619297 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Seizure, Scoliosis, Recurrent hand flap... |
OMIM:300624 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Bilateral tonic-clonic seizure, Akinesia, Focal motor seizure, Seizure, Freezing of gait |
OMIM:619911 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Small for gestational age, Ataxia, Bilateral tonic-clonic seizure, Short stat... |
OMIM:617799 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Kyphosis, Cryptorchidism, Seizure, Colpocephaly, Scoliosis, Dysphagia, Ve... |
ORPHA:261250 |
| Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Hemolytic anemia |
ORPHA:529808 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Retinal dystrophy, Ataxia, Pigmentary retinopathy, Lateral vent... |
OMIM:608629 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Cerebellar atrophy, Myopia, Nyctalopia, High myopia, Rod-cone dystrophy, Cerebral cortical atrophy |
OMIM:617763 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Retinal dystrophy, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impair... |
OMIM:619983 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Pigmentary retinopathy, Mental deterioration, Memory impairment, Homo... |
ORPHA:79095 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Blindness |
OMIM:614514 |
| Tatton-Brown-Rahman Syndrome |
|
Obesity, Kyphoscoliosis, Aggressive behavior |
ORPHA:404443 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Multiple joint contractures, Small for gestational age, Short s... |
ORPHA:464306 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Pigmentary retinopathy, Scoliosis |
OMIM:618234 |
| Endove Syndrome, Limb-Only Type |
|
Neonatal sepsis |
OMIM:619217 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Myopia, Kyphosis, High, narrow palate, Reduced visual acuity, Retina... |
OMIM:177850 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Cachexia, Chorea, Ileus, Athetosis, Self-mutilation |
ORPHA:52503 |
| Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Blindness, Ataxia, Facial palsy, Confusion, Visual loss, Diplopia, Abnormal hypotha... |
ORPHA:68 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Kyphoscoliosis |
OMIM:612079 |
| Hypomelanosis Of Ito |
|
Kyphosis, Seizure, Scoliosis, Cerebral atrophy |
OMIM:300337 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Head-banging |
OMIM:619356 |
| Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Depression, Hy... |
ORPHA:93958 |
| Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior, Optic atrophy, Growth delay, Se... |
ORPHA:66634 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Dysmetria, Abnormal optic disc morpho... |
ORPHA:96121 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Diabetes mellitus, Aggressive behavior, Seizure, Self-injurious behavior, Scoliosi... |
ORPHA:449291 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Cryptorchidism, Gait ataxia, Seizure, Abnormal repetitive mannerisms, Self-mutilat... |
OMIM:300486 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the vertebral column, Kyphoscoliosis |
ORPHA:53721 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Kyphosis, Gait ataxia, Seizure, Scoliosis, Compulsive behaviors, Attention d... |
ORPHA:476126 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Constriction of peripheral visual field, Nyctalopia, ... |
OMIM:619471 |
| De Barsy Syndrome |
|
Kyphoscoliosis, High myopia, Athetosis, Progressive cerebellar ataxia, High palate, Failure to th... |
ORPHA:2962 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Retinal dystrophy, Aganglionic megacolon, Kyphosis, Obesity, Seizure, Attention deficit hyperacti... |
ORPHA:261222 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Abnormal optic nerve m... |
ORPHA:83629 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
| Chst3-Related Skeletal Dysplasia |
|
Kyphoscoliosis, Scoliosis, Intervertebral space narrowing, Abnormal form of the vertebral bodies |
ORPHA:263463 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Lipoatrophy, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoli... |
ORPHA:2617 |
| Classic Phenylketonuria |
|
Tremor, Mental deterioration, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attent... |
ORPHA:79254 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Seizure, Short stature, Scoliosis |
ORPHA:1858 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Glass Syndrome |
|
Restlessness, Inguinal hernia, Hyperactivity, Bilateral tonic-clonic seizure, Short stature, Broa... |
OMIM:612313 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, ... |
OMIM:301041 |
| Glutamine Deficiency, Congenital |
|
Flexion contracture, Subependymal cysts, Seizure, Lateral ventricle dilatation, Brain atrophy, Ca... |
OMIM:610015 |
| Prader-Willi Syndrome Due To Translocation |
|
Short stature, Hypogonadotropic hypogonadism, Short neck, Obesity, Head-banging, Seizure, Lateral... |
ORPHA:177907 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment |
OMIM:617236 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis |
ORPHA:75496 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Kyphoscoliosis, Short neck, Punctate vertebral calcifications, Hemivertebrae, Scoliosis, Failure ... |
OMIM:302960 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Seizure, Inappropr... |
ORPHA:411511 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Seizure, Colpocephaly, Macular hypopla... |
OMIM:615219 |
| Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Tremor, Rod-cone dystrophy, Inability to walk, Nyctalopia,... |
ORPHA:86309 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Sacral dimple, Short stature, Unsteady gait, Pica, Seizure, Recurrent hand flapping |
OMIM:618480 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Confusion, Tremor, Diplopia, Dysmetria, Gait ataxia, Hemiparesis, Transient u... |
OMIM:602481 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... |
OMIM:616959 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Ventriculomegaly, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Hy... |
OMIM:236670 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity... |
ORPHA:25 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis |
ORPHA:96190 |
| Larsen-Like Syndrome |
|
Cleft palate, Kyphoscoliosis |
OMIM:608545 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired... |
OMIM:606002 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Short stature, Macular scar, Kyphosis, Angioid streaks of the fundus, Failure to thrive, Retinopa... |
OMIM:239000 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... |
OMIM:313420 |
| Emanuel Syndrome |
|
Inguinal hernia, Sacral dimple, Ventriculomegaly, Congenital diaphragmatic hernia, Kyphosis, Cryp... |
OMIM:609029 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Amblyopia, Tremor, Abnormal pyramidal sign, Hypermetropia, Eyelid myoclon... |
OMIM:618060 |
| Developmental And Epileptic Encephalopathy 2 |
|
Multifocal seizures, Generalized-onset seizure, Infantile spasms, Inability to walk, Seizure, Myo... |
OMIM:300672 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Constriction of peripheral visual field, Ataxia, Tremor, Babinski sign, Spasti... |
OMIM:618527 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Sepsis, Recurrent cut... |
ORPHA:477 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Bilateral tonic-clonic seizure, Neonatal insulin-dependent diabetes mellitus, Weight loss... |
ORPHA:99885 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Head titubation, Inability to walk, Tremor, Rigidity, Cerebral atrophy, G... |
OMIM:618877 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Ataxia, Short stature, Cryptorchidism, Inability to walk, Seizure, Colpocephal... |
OMIM:620083 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Villous atrophy, Elevated alkaline phosphatase of bone origin, Mal... |
ORPHA:398063 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Weight loss, Hematochezia,... |
ORPHA:2070 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Abn... |
OMIM:168600 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Aganglionic megacolon, Short neck, Growth delay, Seizure,... |
ORPHA:247262 |
| Phelan-Mcdermid Syndrome |
|
Sacral dimple, Broad-based gait, Impaired pain sensation, Aggressive behavior, Tongue thrusting, ... |
OMIM:606232 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Kyphoscoliosis, Cleft palate, Cervical spine instability, Platyspondyly, Decreased body weight |
OMIM:615349 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Pigmentary ... |
OMIM:617675 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Myopia, Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Cervical spine instabi... |
ORPHA:536467 |
| Distal Deletion 10Q |
|
Failure to thrive, Lumbar hyperlordosis, Ataxia, Short stature, Aggressive behavior, Postnatal gr... |
ORPHA:96148 |
| Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Seizure, Platyspondyly, Disproport... |
ORPHA:2655 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Postnatal growth retardation, Bilateral cryptorchidism, Contract... |
ORPHA:96179 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Ataxia, Retinal dystrophy, Tremor, Visual loss, Retinal coloboma, Gait dis... |
ORPHA:220493 |
| Ruvalcaba Syndrome |
|
Inguinal hernia, Short stature, Retinal dystrophy, Kyphosis, Cryptorchidism, Scoliosis, Delayed p... |
OMIM:180870 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Large for gestational age, Bilateral cryptorchidism, Dysplastic c... |
ORPHA:544488 |
| New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... |
ORPHA:363558 |
| Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot... |
ORPHA:370091 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Blindness, Thoracic scoliosis |
OMIM:603387 |
| Myopathy, Centronuclear, 2 |
|
Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Flexion contracture, Scoliosis, Intrauterin... |
OMIM:255200 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Impaired pain sensation, Hypermetropia, Gait ataxia, Brain atrophy, Abnormal repe... |
OMIM:616579 |
| Wieacker-Wolff Syndrome |
|
Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Congenital fo... |
OMIM:314580 |
| Aicardi Syndrome |
|
Retinal detachment, Epileptic spasm, Dandy-Walker malformation, Block vertebrae, Infantile spasms... |
OMIM:304050 |
| Bohring-Opitz Syndrome |
|
Ventriculomegaly, Retinal atrophy, Short stature, Inability to walk, Bilateral wrist flexion cont... |
ORPHA:97297 |
| Listeriosis |
|
Brain abscess, Liver abscess, Abscess, Abnormal cellular immune system morphology, Sepsis, Hepati... |
ORPHA:533 |
| Sandhoff Disease, Infantile Form |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus, Cherry red spot of the mac... |
ORPHA:309155 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Giant somatosensory evoked potentials, Enhance... |
OMIM:607876 |
| Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Reticular pigmentary degen... |
ORPHA:1435 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatic steatosis, Hepatomegaly, Constriction of peripheral visual field, Failure to thrive in in... |
OMIM:619418 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Short neck, Kyphosis, Cryptorchidism, Obesity, Seizure, Self-injurious behavior, S... |
ORPHA:254346 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Sacral dimple, Hyperactivity, Failure to thrive in infancy, Short stature, Postnatal growth retar... |
ORPHA:261323 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
High palate, Kyphoscoliosis, Short neck |
OMIM:272430 |
| Cinca Syndrome |
|
Retrobulbar optic neuritis, Blindness, Pseudopapilledema, Visual impairment |
ORPHA:1451 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Kyphoscoliosis, Short neck, High, narrow palate, Cleft palate, High myopia, Scoliosis, Vertebral ... |
OMIM:309583 |
| Mcdonough Syndrome |
|
Short stature, Cachexia, Kyphosis, Cryptorchidism, Scoliosis |
ORPHA:2471 |
| Loeys-Dietz Syndrome 5 |
|
Failure to thrive in infancy, Cleft soft palate, Kyphoscoliosis, Hiatus hernia, Eosinophilic infi... |
OMIM:615582 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, High palate, Hypop... |
ORPHA:35173 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Generalized-onset seizure, Ventriculomegaly, Increased inter... |
ORPHA:508533 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal... |
ORPHA:2526 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Short stature, Kyphosis, Chorea, Disproportionate short-tr... |
ORPHA:1855 |
| Prader-Willi Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Seizure, Oligomenorrhea, S... |
OMIM:176270 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Ventriculomegaly, Lumbar hyperlordosis, Bilateral tonic-clonic seizu... |
ORPHA:457359 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Short neck, Cholestasis, Protein-losing enteropathy, Decreased liver function, Fail... |
OMIM:608104 |
| Vascular Hyalinosis |
|
Hematochezia, Chorioretinal scar, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
| Hermansky-Pudlak Syndrome 1 |
|
Blindness, Ocular albinism, Photophobia, Hematochezia, Inflammation of the large intestine, Colit... |
OMIM:203300 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Optic nerve hypoplasia, Short neck, Fused cervical vertebrae, Colpocephaly, Decrea... |
OMIM:609053 |
| Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Impaired pain sensation, Bulimia, Agitation, Abnormality of visual evoked pote... |
ORPHA:314389 |
| Geroderma Osteodysplasticum |
|
Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Bic... |
OMIM:231070 |
| Cranioectodermal Dysplasia 4 |
|
Nyctalopia, Hypermetropia, Bone marrow hypocellularity, Rod-cone dystrophy, Visual impairment |
OMIM:614378 |
| Caroli Syndrome |
|
Liver abscess, Hypersplenism, Leukocytosis, Sepsis, Leukopenia, Thrombocytopenia |
ORPHA:480520 |
| Meningioma |
|
Papilledema, Bitemporal hemianopia, Blindness, Ataxia, Facial palsy, Hemifacial spasm, Abnormal c... |
ORPHA:2495 |
| Clark-Baraitser syndrome |
|
Kyphosis, Obesity, Seizure, Scoliosis, Macroorchidism |
OMIM:300602 |
| Galloway-Mowat Syndrome 7 |
|
Cleft palate, High palate, Kyphoscoliosis |
OMIM:618348 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Small for gestational age, Oral-pharyngeal dysphagia, Cryptorchidism, Distal arthr... |
ORPHA:506358 |
| Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Tongue thrusting, Athetosis, Seizure, Scoliosis, Bruxism, Abnormal repetitive m... |
OMIM:613454 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Myopia, High palate, Thoracolumbar scoliosis, Kyphoscoliosis |
ORPHA:230851 |
| Momo Syndrome |
|
Blindness, Large for gestational age, Short neck, Obesity, High palate, Chorioretinal coloboma |
ORPHA:2563 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Blindness, Ataxia, Optic neuropathy, Babinski sign, Undete... |
OMIM:252010 |
| Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Sepsis, Thrombocytopenia |
ORPHA:94093 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Visual loss, Myoclonus, Dysphagia, ... |
OMIM:607426 |
| 22Q11.2 Duplication Syndrome |
|
Growth delay, Seizure, Compulsive behaviors, Scoliosis, Attention deficit hyperactivity disorder,... |
ORPHA:1727 |
| Diets-Jongmans Syndrome |
|
Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Aggressive behavior, Cryptorchid... |
OMIM:618846 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Myopia, Thoracic scoliosis, Sacral dimple, Long uvula, Kyphoscoliosis, Impaired temperature sensa... |
ORPHA:536532 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,... |
ORPHA:2635 |
| Megalocornea-Intellectual Disability Syndrome |
|
Short stature, Ataxia, Kyphosis, Seizure, Scoliosis, Abnormal repetitive mannerisms |
ORPHA:2479 |
| Behçet Disease |
|
Blindness, Ataxia, Confusion, Anorexia, Retrobulbar optic neuritis, Abnormal pyramidal sign, Weig... |
ORPHA:117 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Kyphosis, Cryptorchidism, Optic atrophy, Seiz... |
ORPHA:2510 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Facial paralysis, Optic atrophy, Blindness |
OMIM:259710 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Sepsis |
OMIM:619362 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Kyphoscoliosis, Bilateral cryptorchidism, S... |
OMIM:617403 |
| Musk, Inability To Smell |
|
Blindness |
OMIM:254150 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Hypertonia, Cachexia, Cerebral visual impairment |
ORPHA:1389 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
| Nmda Receptor Encephalitis |
|
Chorea, Opisthotonus, Choreoathetosis, Abnormal repetitive mannerisms, Delirium, Confusion, Hyper... |
ORPHA:217253 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ataxia, Kyphoscoliosis, Cerebral visual impairment, Cleft palate, Rod-cone dystrophy, Ankyloglossia |
ORPHA:488642 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Blindness |
ORPHA:73267 |
| Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Rod-cone dystrophy, Chorea, Optic atrop... |
ORPHA:255210 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Generalized-onset seizure, Small for gestational age, Rod-cone dystrophy, Cry... |
OMIM:614866 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Bilateral tonic-clonic seizure, Brain atrophy, Short stature, Myoclonic seizure |
OMIM:620070 |
| Alternating Hemiplegia Of Childhood |
|
Ataxia, Bilateral tonic-clonic seizure, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,... |
ORPHA:2131 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendo... |
ORPHA:98855 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Lateral ventricle dilatation, Short stature |
OMIM:618330 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Retinal detachment, Blindness, Myopia, Kyphoscoliosis, Platyspondyly... |
OMIM:225400 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,... |
OMIM:250410 |
| Ane Syndrome |
|
Motor neuron atrophy, Kyphoscoliosis |
ORPHA:157954 |
| Tick-Borne Encephalitis |
|
Anorexia, Tremor, Photophobia, Increased circulating IgG level, Tongue fasciculations, Fatigable ... |
ORPHA:297 |
| Aicardi-Goutieres Syndrome 9 |
|
Chorioretinal atrophy, Optic atrophy, Cerebral atrophy, Weight loss, Seizure, Lateral ventricle d... |
OMIM:619487 |
| 15Q24 Microdeletion Syndrome |
|
Small for gestational age, Short stature, Congenital diaphragmatic hernia, Postnatal growth retar... |
ORPHA:94065 |
| Tetrasomy 15Q26 |
|
High palate, Kyphoscoliosis |
OMIM:614846 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Jaundice, Cirrhosis, Cholelithiasi... |
OMIM:211600 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Short neck, Hyperlordosis, Kyphosis, Achilles tendon con... |
ORPHA:98863 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait... |
ORPHA:466768 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Kyphoscoliosis |
ORPHA:101003 |
| Isolated Complex I Deficiency |
|
Optic disc pallor, Blindness, Ataxia, Optic neuropathy, Failure to thrive |
ORPHA:2609 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Blindness |
OMIM:204850 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Short neck, Kyphosis, Seizure, Failure to thrive, Global brain atrophy |
OMIM:608776 |
| Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Punding, Attention deficit hyperactivity... |
ORPHA:64280 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Shashi-Pena Syndrome |
|
Hypoglycemia, Kyphosis, Seizure, Mild fetal ventriculomegaly, Scoliosis, Cervical C2/C3 vertebral... |
OMIM:617190 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neuromuscular dysphagia, Kyphoscoliosis |
ORPHA:466722 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady... |
OMIM:614947 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Seizure, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Cryptorchidism |
OMIM:618504 |
| Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:616629 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Involuntary movements, Depression, Attention deficit hyperactivity disorder,... |
ORPHA:98784 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contrac... |
OMIM:618493 |
| Lowry-Wood Syndrome |
|
Pigmentary retinopathy, Nyctalopia, Small for gestational age, Peripheral visual field loss |
OMIM:226960 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Short stature, Severe short st... |
OMIM:309900 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Ataxia, Inability to walk, Chorea, Cerebral atrophy, Stereotypical hand wring... |
OMIM:617804 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Short stature, Kyphosis, Distal arthrogryposis, Scoliosis, C... |
OMIM:108145 |
| Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Short neck, Lattice retinal degeneration, ... |
ORPHA:485 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi... |
ORPHA:1433 |
| Hallermann-Streiff Syndrome |
|
Hyperactivity, Small for gestational age, Bilateral tonic-clonic seizure, Proportionate short sta... |
OMIM:234100 |
| Autism, Susceptibility To, 3 |
|
Seizure, Abnormal repetitive mannerisms, Inflexible adherence to routines, Restrictive behavior |
OMIM:608049 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms |
ORPHA:529965 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Severe temper tantrums, Hypermetropia, Compulsive behaviors, Abnormal repetitive m... |
OMIM:618027 |
| Pitt-Hopkins Syndrome |
|
Sacral dimple, Short neck, Cryptorchidism, Gait ataxia, Seizure, Self-injurious behavior, Scolios... |
OMIM:610954 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Decreased body weight, Att... |
OMIM:619005 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Severe short... |
ORPHA:93314 |
| 2Q37 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Short neck, Obesity, Seizure, Compulsive behavior... |
ORPHA:1001 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Athetosis, Seizure, Focal impaired awareness seizure, Polydipsia,... |
ORPHA:369929 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Craniosynostosis 6 |
|
Cerebellar atrophy, Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of co... |
OMIM:616602 |
| Trisomy 13 |
|
Abnormal retinal vascular morphology, Kyphosis, Cryptorchidism, Optic atrophy, Seizure, Scoliosis... |
ORPHA:3378 |
| Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Severe short stature, Cerebral degeneration, Short neck, Kyphosis, Hypoplastic v... |
OMIM:230500 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Protruding tongue |
ORPHA:324410 |
| Thanatophoric Dysplasia Type 2 |
|
Short stature, Kyphosis, Hydrocephalus, Seizure, Platyspondyly, Ventriculomegaly |
ORPHA:93274 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Kyphosis, Gait disturbance |
OMIM:614898 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Dilated fourth ventricle, Cerebellar atrophy, Generalized-onset seizure, Ataxia, Premature ovaria... |
OMIM:212065 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Inguinal hernia, Sacral dimple, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Cryp... |
ORPHA:459070 |
| Norrie Disease |
|
Retinal detachment, Blindness, Abnormal chorioretinal morphology, Remnants of the hyaloid vascula... |
ORPHA:649 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Truncal titubation, Tremor, Dysmetria, Gait ata... |
OMIM:618056 |
| Gm1 Gangliosidosis Type 1 |
|
Blindness, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Decreas... |
ORPHA:79255 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis, Hypoglycemia, Glycosuria |
OMIM:231680 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Myopia, Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... |
OMIM:608643 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Severe short stature, Bilateral tonic-clonic seizure, Focal-onset seizure, Optic disc coloboma, T... |
OMIM:600092 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... |
ORPHA:91495 |
| 2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Optic nerve hypoplasia, Facial palsy, Kyphosis, Optic a... |
ORPHA:261349 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Elbow contracture, Short stature, Seizure, Compulsive behaviors, Attention deficit hypera... |
OMIM:615656 |
| Cockayne Syndrome Type 2 |
|
Ataxia, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Male hypogonadism, Gait disturba... |
ORPHA:90322 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short stature, Postnatal growth retardation, Partial agenesis of the corpus callosum, Seizure, Co... |
OMIM:620113 |
| Arima Syndrome |
|
Hepatomegaly, Blindness, Retinal dystrophy, Ataxia, Optic atrophy, Esophageal varix, Hepatic fibr... |
OMIM:243910 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendo... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendo... |
ORPHA:98853 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Aggressive behavior |
OMIM:616083 |
| Myopathy, Tubular Aggregate, 1 |
|
Nyctalopia |
OMIM:160565 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Reduced visual acuity, Dis... |
ORPHA:320375 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Kyphoscoliosis, High palate, Optic neuropathy |
OMIM:620237 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Postnatal growth retardation, Kyphosis, Or... |
OMIM:300966 |
| Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Kyphosis, Optic atrophy, Abnormal form of the... |
ORPHA:192 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Myopia, Congenital kyphoscoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Optic disc coloboma, C... |
ORPHA:536471 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Aggressive behavior, Kyphosis, Inability to walk, Cerebral atrophy, Seizure, Lat... |
ORPHA:464738 |
| Harrod Syndrome |
|
Kyphosis, Cryptorchidism, Seizure, Scoliosis, Intrauterine growth retardation, Failure to thrive,... |
ORPHA:2115 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Ataxia, Bilateral tonic-clonic seizure, Short stature, Hiatus he... |
OMIM:614756 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Seizure, Agitation, Abnormal autonomic nervous system physiology, Gait disturbance, Bruxism, Recu... |
OMIM:617903 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Blindness, Sacral dimple, Retinal dystrophy, Chorioretinal d... |
ORPHA:2556 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Kyphosis, Insulin... |
OMIM:615381 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
| Ophthalmomandibulomelic Dysplasia |
|
Blindness |
ORPHA:2741 |
| Pilarowski-Bjornsson Syndrome |
|
Postnatal growth retardation, Seizure, Abnormal repetitive mannerisms |
OMIM:617682 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Epileptic spasm, Generalized-onset seizure, Small for gestational age, Bilateral tonic-clonic sei... |
OMIM:620024 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Bilateral tonic-clonic seizure, Facial palsy, Anorexia... |
ORPHA:79139 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Myopia, Ataxia, Kyphoscoliosis, Aggressive behavior, Dysplastic corpus callosum, High, narrow pal... |
ORPHA:466791 |
| Currarino Syndrome |
|
Perianal abscess, Recurrent urinary tract infections, Sepsis |
OMIM:176450 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Myopia, Absent gallbladder, Lumbar hyperlordosis, Failure to thrive in infancy, Optic nerve hypop... |
ORPHA:500150 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... |
ORPHA:178148 |
| Ruvalcaba Syndrome |
|
Inguinal hernia, Kyphosis, Cryptorchidism, Seizure, Scoliosis, Delayed puberty, Abnormal vertebra... |
ORPHA:3121 |
| Cryptococcosis |
|
Lymphoid leukemia, Sepsis |
ORPHA:1546 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Compulsive behaviors, Scoliosis |
OMIM:615761 |
| Kagami-Ogata Syndrome |
|
Hepatomegaly, Kyphoscoliosis |
OMIM:608149 |
| Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Broad-based gait, Short stature, Anterior concavity of thoracic vertebrae, Limb ataxia, Self-inju... |
OMIM:617101 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... |
OMIM:130060 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Hydrocephalus, Gait disturbance, Scoliosis, Umbilical hernia |
ORPHA:2181 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
| Hajdu-Cheney Syndrome |
|
Intestinal malrotation, Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, High palate, Ce... |
OMIM:102500 |
| Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Partial agenesis of the corpus callosum, Seizure, Scoliosis, Failure to thrive |
ORPHA:420794 |
| Osteogenesis Imperfecta, Type Xx |
|
Narrow palate, Vertebral compression fracture, High palate, Kyphoscoliosis |
OMIM:618644 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Failure to thrive, High palate, Kyphoscoliosis |
OMIM:618005 |
| Wolfram Syndrome 1 |
|
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Dysphagia |
OMIM:222300 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Short neck, Spinal rigidity, Kyphosis, Flexion contracture, Elbow flexion contracture, Knee flexi... |
ORPHA:75840 |
| Paganini-Miozzo Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Lateral ventricle dilatation |
OMIM:301025 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Reduced leukocyte ary... |
OMIM:253200 |
| 1P36 Deletion Syndrome |
|
Short stature, Camptodactyly of finger, Kyphosis, Cryptorchidism, Abnormal repetitive mannerisms,... |
ORPHA:1606 |
| Rat-Bite Fever |
|
Sepsis, Anemia |
ORPHA:31205 |
| Herpes Simplex Virus Stromal Keratitis |
|
Blindness, Reduced visual acuity |
ORPHA:137599 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus |
OMIM:614652 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Corpus callosum atrophy, Impaired distal vibration sensation, Babinski sign, Spastic para... |
OMIM:616586 |
| Cystinosis, Nephropathic |
|
Blindness, Failure to thrive in infancy, Progressive neurologic deterioration, Oral-pharyngeal dy... |
OMIM:219800 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Broad-based gait, Bilateral tonic-clonic seizure, Large for gestational age, Cer... |
OMIM:280000 |
| Werner Syndrome |
|
Low back pain, Diabetes mellitus, Short stature, Hypogonadism, Retinal degeneration |
OMIM:277700 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Ventriculomegaly, Retinal dystrophy, Short stature, Rhizomelic l... |
ORPHA:397715 |
| Crisponi Syndrome |
|
Camptodactyly of finger, Kyphosis, Flexion contracture, Seizure, Scoliosis |
ORPHA:1545 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short stature, Short neck, Kyphosis, Obesity, Type II diabetes mellitus, Scoliosis |
ORPHA:3191 |
| Congenital Microcoria |
|
Blindness, Axial myopia, Nyctalopia, Photophobia, Hemeralopia, Visual impairment, Blurred vision |
ORPHA:566 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis, Delayed puberty |
ORPHA:2598 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Poor fine motor coordination, Retinal degeneration |
ORPHA:542306 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Kyphoscoliosis, Retinal vascular proliferation, Opti... |
OMIM:308300 |
| Rift Valley Fever |
|
Back pain, Elevated hepatic transaminase, Retinitis, Scotoma, Anorexia, Hematemesis, Jaundice, Re... |
ORPHA:319251 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Hypermetropia, Self-biting, Choreoathetosis, Hype... |
ORPHA:522077 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Abnormal oligodendroglia morphology, ... |
ORPHA:217260 |
| Microsporidiosis |
|
Brain abscess, Abnormality of the spleen, Sepsis, Bronchiolitis, Decreased proportion of CD4-posi... |
ORPHA:2552 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Facial palsy,... |
OMIM:615084 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... |
OMIM:607944 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Retinal degeneration, Premature ovarian insufficiency, S... |
ORPHA:79474 |
| Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... |
OMIM:264800 |
| X Small Rings |
|
Premature ovarian insufficiency, Bilateral tonic-clonic seizure, Short neck, Primary amenorrhea, ... |
ORPHA:96201 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Kyphosis, Cerebral atrophy, Seizure, Scoliosis, Agenesis of corpus callosum, Ven... |
OMIM:616449 |
| Bone Marrow Failure Syndrome 5 |
|
Bilateral tonic-clonic seizure, Short stature, Growth delay, Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Repetitive compulsive behavior, Generalized non... |
ORPHA:513456 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Visual impairment, Aggressive behavior, Retinal degeneration, Gait ataxia |
OMIM:618479 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Large for gestational age, Short neck, Dysphagia, Hepatoblastoma |
ORPHA:254519 |
| 3C Syndrome |
|
Inguinal hernia, Ventriculomegaly, Short stature, Short neck, Postnatal growth retardation, Kypho... |
ORPHA:7 |
| Dysosteosclerosis |
|
Blindness, Increased intervertebral space, Optic atrophy, Hypoplastic vertebral bodies, Irregular... |
OMIM:224300 |
| Kniest Dysplasia |
|
Retinal detachment, Myopia, Short neck, Cleft palate, Coronal cleft vertebrae, Platyspondyly, Lum... |
OMIM:156550 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Aggressive behavior |
OMIM:606688 |
| Microphthalmia, Lenz Type |
|
Short stature, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cryptorchidism, Optic disc colob... |
ORPHA:568 |
| Serotonin Syndrome |
|
Restlessness, Clonus, Confusion, Tremor, Rigidity, Mental deterioration, Irritability, Hypertonia... |
ORPHA:43116 |
| Urban-Rogers-Meyer Syndrome |
|
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Obesity, Hypogonadi... |
ORPHA:3409 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Obesity, Pigme... |
OMIM:616562 |
| Biotinidase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Optic neuropathy, Optic atrophy, Focal ... |
ORPHA:79241 |
| Stickler Syndrome |
|
Retinal detachment, Blindness, Myopia, Slender build, Cachexia, Kyphosis, Abnormal vitreous humor... |
ORPHA:828 |
| Cerebrooculonasal Syndrome |
|
Blindness, High palate |
ORPHA:66625 |
| Rauch-Steindl Syndrome |
|
Sacral dimple, Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, I... |
OMIM:619695 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Short stature, Corneal scarring, Pigmentary retinopathy, Colpocephaly, Scoliosis, ... |
OMIM:618460 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Sepsis |
ORPHA:2241 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Unsteady gait, Generalized non-motor (absence) se... |
OMIM:617798 |
| Farber Disease |
|
Short stature, Infantile spasms, Flexion contracture, Seizure, Macular degeneration, Myoclonus, B... |
ORPHA:333 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Hamartomatous stomach polyps, Hemivertebrae, Vertebral wedging,... |
OMIM:109400 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Spastic tetraplegia, High myopia, Photophobia, Brain atrophy, Abnormality of visual evoked potent... |
OMIM:614457 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... |
OMIM:271510 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Cryptorchidism, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:628 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Optic atrophy, Seizure, Intrauterine gr... |
OMIM:610505 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Kyphosis, Optic atrophy, Reduced visual acuity, Dysmetria, Inflammation of the large inte... |
OMIM:619708 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Sacral dimple, Short stature, Hypogonadotropic hypogonadism, Impulsivity, Cer... |
OMIM:301030 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Kyphoscoliosis, Optic atrophy, Hypermetropia, Photophobia, High palate, Chorioretinal coloboma |
OMIM:210730 |
| Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, Spasticity, Brain atrophy, Cerebral atrophy |
OMIM:609304 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal odontoid process morphology, Bilateral tonic-clonic seizure, Kyphosco... |
ORPHA:2976 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Abnormal macular morphology, Hepato... |
ORPHA:263508 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Retinal dystrophy, Macular atrophy, Hepatic cysts, Reduced vis... |
OMIM:616307 |
| Mucolipidosis Iii Alpha/Beta |
|
Short stature, Retinal degeneration, Retinopathy, Scoliosis |
OMIM:252600 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Ataxia, Facial palsy, Cerebral visual impairment, Tremor, Rig... |
ORPHA:254892 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure,... |
OMIM:619835 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Hyperactivity, Small for gestational age, Short stature, Impulsi... |
OMIM:610443 |
| Kleefstra Syndrome 1 |
|
Aggressive behavior, Cryptorchidism, Obesity, Seizure, Compulsive behaviors, Abnormal repetitive ... |
OMIM:610253 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Bilateral tonic-clonic seizure |
OMIM:618832 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Optic atrophy, ... |
ORPHA:280 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Macroglossia, Thoracic kyphosis, Protein-losing enteropa... |
OMIM:618440 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Generalized-onset seizure, Kyphosis, Optic atrophy, Contractures of the large joints, Seizure, Dy... |
OMIM:617527 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Cerebellar atrophy, Hypergonadotropic hypogonadism, Spinal rigidi... |
ORPHA:352447 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Kyphoscoliosis, Hyperlordosis, Weight loss, High palate, Scoliosis, Dysphagia, Failure to thrive |
ORPHA:2020 |
| Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contra... |
ORPHA:171436 |
| Joubert Syndrome 5 |
|
Ataxia, Aggressive behavior, Reduced visual acuity, Retinal coloboma, Oculomotor apraxia, Congeni... |
OMIM:610188 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Retinal detachment, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypo... |
OMIM:183900 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Retinal detachment, Abnormally ossified vertebrae, Lumbar hyperlordosis, Waddling gait... |
ORPHA:94068 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Confusion, Tremor, Reduced visual acuity, Pigmentary retinopathy, Dementia, Abnormality of extrap... |
OMIM:277400 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Cryptorchidism, Seizure, Scoliosis, Compulsive behaviors, Attention deficit hyperactivi... |
ORPHA:404440 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Abnormal optic nerve morphology, Hypopigmentation of the fundus |
ORPHA:77300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Pigmentary retinopathy, Late... |
OMIM:613154 |
| Desbuquois Dysplasia 1 |
|
Waddling gait, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Obesity, Growth delay, ... |
OMIM:251450 |
| Floating-Harbor Syndrome |
|
Restlessness, Small for gestational age, Kyphoscoliosis, Short neck, Celiac disease, Aggressive b... |
ORPHA:2044 |
| Autosomal Recessive Spastic Paraplegia Type 9B |
|
Kyphoscoliosis, Impaired vibration sensation at ankles |
ORPHA:447760 |
| Non-Functioning Pituitary Adenoma |
|
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... |
ORPHA:91349 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Severe short stature, Ataxia, Small for gestational age, Abn... |
OMIM:133540 |
| Macrocephaly-Developmental Delay Syndrome |
|
Seizure, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Short... |
ORPHA:193 |
| Dermatoosteolysis, Kirghizian Type |
|
Nyctalopia, Scoliosis |
ORPHA:1657 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Bilateral tonic-clonic seizure, Type I diabetes mellitus, Febrile seizure (wit... |
ORPHA:3044 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Infantile spasms, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious beh... |
OMIM:616393 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft palate, Sacral dimple, Cleft soft palate, Kyphoscoliosis |
OMIM:616331 |
| Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention deficit hyperactivity ... |
OMIM:615538 |
| Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu... |
ORPHA:263479 |
| Supranuclear Palsy, Progressive, 2 |
|
Akinesia, Granulovacuolar degeneration, Gliosis, Gait imbalance, Falls, Dysphagia, Neuronal loss ... |
OMIM:609454 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Short stature, Abnormal dental enamel morphology, Kyphosis, Cryptorchidism, Sei... |
ORPHA:96169 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk,... |
OMIM:620066 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Myopia, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Cleft palate, Irregular vertebral end... |
OMIM:271640 |
| Ophthalmomandibulomelic Dysplasia |
|
Blindness |
OMIM:164900 |
| Weill-Marchesani Syndrome 1 |
|
Blindness, Lumbar hyperlordosis, Spinal canal stenosis, Narrow palate, High myopia, Scoliosis |
OMIM:277600 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Reduced visual acuity |
OMIM:616722 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,... |
ORPHA:2311 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Kyphosis, Inability to walk, Flexion contracture, Optic atrophy, Scoliosis |
OMIM:609541 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Hydrocephalus, Disproportionate... |
OMIM:616482 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Lateral ventricle dilatation |
OMIM:614105 |
| Alpha-Mannosidosis |
|
Inguinal hernia, Short neck, Kyphosis, Type II diabetes mellitus, Scoliosis |
ORPHA:61 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
| Neurofibroma |
|
Kyphoscoliosis, Spinal canal stenosis, Enlargement of parotid gland, Multiple intestinal neurofib... |
ORPHA:252183 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Myopia, Thoracic scoliosis, Cervical kyphosis, Kyphoscoliosis... |
OMIM:114290 |
| Developmental And Epileptic Encephalopathy 8 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure |
OMIM:300607 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Congenital blindness, Optic atrophy |
OMIM:608688 |
| Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Aganglionic megacolon, Failure to thrive in infancy, Kyphoscoliosis, Sho... |
ORPHA:798 |
| Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Grayish enamel... |
OMIM:253000 |
| Mccune-Albright Syndrome |
|
Intestinal polyposis, Blindness |
OMIM:174800 |
| Wiedemann-Steiner Syndrome |
|
Sacral dimple, Hyperactivity, Short stature, Rhizomelia, Aggressive behavior, Postnatal growth re... |
ORPHA:319182 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Short stature, Optic nerve hypoplasia, Facial palsy, ... |
ORPHA:508498 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Bilateral tonic-clonic seizure |
ORPHA:79350 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Tip-toe ga... |
OMIM:607155 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Short stature, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Sei... |
OMIM:618050 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma |
OMIM:602499 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Short stature, Congenital diaphragmatic hernia, Hydrocephalus, Seizure, Colpocephaly, Pigmentary ... |
OMIM:309801 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Broad-based gait, Bilateral tonic-clonic seizure, Optic nerve hy... |
OMIM:620330 |
| Prolactinoma |
|
Bitemporal hemianopia, Blindness, Diplopia, Hemianopia, Sudden loss of visual acuity, Heteronymou... |
ORPHA:2965 |
| Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Kyphoscoliosis, Scoliosis, Short neck |
OMIM:618947 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Aggressive behavior, Typical absence seiz... |
ORPHA:466950 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent urinary tract infections, Pyoderma, Sepsis, Anemia |
ORPHA:79404 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Bilateral tonic-clonic seizure |
OMIM:201475 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Kyphosis, Dysmetria, Gait disturbance, ... |
ORPHA:88644 |
| Nephronophthisis 11 |
|
Polydipsia, Retinal degeneration |
OMIM:613550 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Seizure, Bilateral tonic-clonic seizure, Hypoglycemia |
OMIM:620300 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Generalized non-motor (absence) seizure, Obe... |
ORPHA:466943 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Lateral ventricle dilatation, Short stature, Scoliosis |
OMIM:619995 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Myopia, Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Myoclonus, S... |
OMIM:253280 |
| Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Short neck, Po... |
OMIM:253220 |
| Hydranencephaly |
|
Blindness, Optic nerve hypoplasia, Chorioretinal atrophy, Spastic diplegia, Opisthotonus, Abnorma... |
ORPHA:2177 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Pain insensitivity, Broad-based gait, Ataxia, Short stature, Cryptorchidism, ... |
OMIM:617330 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Small for gestational age, Short stature, Kyphosis, Cryptorchidi... |
OMIM:194190 |
| Postencephalitic Parkinsonism |
|
Camptocormia, Akinesia, Kyphosis, Seizure, Paresthesia, Dysphagia |
ORPHA:97349 |
| Fuchs Endothelial Corneal Dystrophy |
|
Visual loss, Nyctalopia, Reduced visual acuity |
ORPHA:98974 |
| Ogden Syndrome |
|
Inguinal hernia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Short stature, Matern... |
OMIM:300855 |
| Hyperekplexia 3 |
|
Bilateral tonic-clonic seizure, Myoclonus, Hiatus hernia |
OMIM:614618 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Generalized-onset seizure, Agenesis of corpus callosum, Hyperlordosis, Focal hemiclonic seizure, ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Generalized-onset seizure, Agenesis of corpus callosum, Hyperlordosis, Focal hemiclonic seizure, ... |
ORPHA:363958 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Optic atrophy, Contractures of the large joints, Seizure, Impaired oropharyngeal swallo... |
ORPHA:521426 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Flexion contracture, Absence of subcutaneous fat, Generalized li... |
OMIM:614098 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Corpus callosum atrophy, Kyphosis, Optic atrophy, Dysmetria, Seizure, Dysdiad... |
ORPHA:171629 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Kyphoscoliosis |
OMIM:163200 |
| 15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Kyphosis, Seizure, Scoliosis |
ORPHA:261190 |
| Wiedemann-Rautenstrauch Syndrome |
|
Myopia, Hepatic steatosis, Optic disc hypoplasia, Irregular sclerotic endplates, Kyphoscoliosis, ... |
ORPHA:3455 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Small for gestational age, Short stature, Cryptorchidism, Flexion contracture, Opt... |
OMIM:309590 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Babinski sign, Optic atrophy, Abnormal autonomic nervous system ... |
OMIM:231550 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis |
OMIM:614328 |
| 2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Op... |
ORPHA:251014 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Short stature, Camptodactyly of finger, Aggressive behavior, Postnatal growth ... |
OMIM:309000 |
| Nocardiosis |
|
Brain abscess, Liver abscess, Sepsis, Cutaneous abscess |
ORPHA:31204 |
| Primrose Syndrome |
|
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Irregular vertebral endp... |
OMIM:259050 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Kyphosis, Hydrocephalus, Seizure, Platyspondyly, Lethal sho... |
ORPHA:1860 |
| Menkes Disease |
|
Sepsis |
ORPHA:565 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Sacral dimple, Large for gestational age, Kyphosis, Umbilical hernia |
OMIM:618272 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Blindness |
OMIM:601499 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
| Aica-Ribosiduria |
|
Congenital blindness |
ORPHA:250977 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Corpus callosum atrophy, Babinski sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
| Tuberous Sclerosis Complex |
|
Epileptic spasm, Hyperactivity, Retinal astrocytic hamartoma, Infantile spasms, Aggressive behavi... |
ORPHA:805 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable ... |
ORPHA:199351 |
| Mucolipidosis Iii Gamma |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
OMIM:252605 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short stature, Short neck |
OMIM:616455 |
| Intermediate Uveitis |
|
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Reduced visual acuity, Macul... |
ORPHA:279914 |
| Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck |
OMIM:109500 |
| Cowden Syndrome 5 |
|
Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Seizure, Scoliosis, Subcutaneous lipoma |
OMIM:615108 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Dentinogenesis imp... |
OMIM:259440 |
| Fountain Syndrome |
|
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Seizure, Scoliosis, Spina bifida ... |
ORPHA:3219 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... |
OMIM:313400 |
| Hermansky-Pudlak Syndrome |
|
Myopia, Anorexia, Amblyopia, Ocular albinism, Weight loss, Photophobia, Abnormal optic nerve morp... |
ORPHA:79430 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Bilateral tonic-clonic seizure, Infantile spasms, Hai... |
ORPHA:447997 |
| Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... |
OMIM:605808 |
| Pseudo-Torch Syndrome 2 |
|
Seizure, Lateral ventricle dilatation, Ventriculomegaly |
OMIM:617397 |
| Bruck Syndrome 1 |
|
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... |
OMIM:259450 |
| Holoprosencephaly 14 |
|
Cerebellar atrophy, Ventriculomegaly, Bilateral tonic-clonic seizure, Aqueductal stenosis, Partia... |
OMIM:619895 |
| X-Linked Intellectual Disability, Snyder Type |
|
Kyphoscoliosis, Kyphosis, Cleft palate, High myopia, High palate |
ORPHA:3063 |
| Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Myopia, Congenital kyphoscoliosis, Kyphoscoliosis, Atlantoaxial instability, High palate, Scoliosis |
ORPHA:536545 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Myoclonus,... |
OMIM:618426 |
| 3Q27.3 Microdeletion Syndrome |
|
Kyphoscoliosis |
ORPHA:397695 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Short neck, Large for gestational age, Kyphosis, Hydrocephalus, Seizure, Abnormali... |
ORPHA:77301 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Blindness, Melena |
ORPHA:853 |
| Hermansky-Pudlak Syndrome 10 |
|
Cerebral atrophy, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Ocular albinism |
OMIM:617050 |
| 6Q Terminal Deletion Syndrome |
|
Short neck, Obesity, Dysmetria, Gait ataxia, Seizure, Colpocephaly, Scoliosis, Failure to thrive |
ORPHA:75857 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Anteriorly placed anus, High palate, Kyphoscoliosis, Small for gestational age |
OMIM:268400 |
| Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... |
ORPHA:137834 |
| Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Hydrocephalus, Disproportionate short stature, Spinal... |
ORPHA:15 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Astrocytoma, Ataxia, Short stature, Kyphosis, Cryptorchidism... |
ORPHA:636 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Cerebellar atrophy, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Obes... |
ORPHA:369837 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Seizure, Dysphagia, Intrauterine growth retardation |
OMIM:619909 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Facial palsy, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis |
OMIM:181405 |
| Tarp Syndrome |
|
Failure to thrive, Optic atrophy, Cleft palate, Tongue nodules, Glossoptosis, Athetosis, High pal... |
OMIM:311900 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Vertebral compression fracture, C1-C2 subluxation, Kyphoscoliosis |
OMIM:259600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Multifocal seizures, Hypoglycemia, Hyperlordosis, Aggressive behavior, Obesity, Seizure, Umbilica... |
OMIM:301066 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Facial palsy, Kyphosis, Dysphagia, Gait imbalance, Scoliosis, Truncal ataxia, Cranial ner... |
OMIM:211530 |
| Gaucher Disease |
|
Ventriculomegaly, Ataxia, Bilateral tonic-clonic seizure, Short stature, Cherry red spot of the m... |
ORPHA:355 |
| Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, High palate |
OMIM:249420 |
| Cowden Syndrome 6 |
|
Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Seizure, Scoliosis, Subcutaneous lipoma |
OMIM:615109 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Photophobia, Abnormal optic nerve morphology, Abnormali... |
ORPHA:79431 |
| Webb-Dattani Syndrome |
|
Blindness, Gastroesophageal reflux, Obesity |
OMIM:615926 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Myopia, Atlantoaxial instability, Cleft soft palate, Kyphoscoliosis |
OMIM:614557 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphos... |
OMIM:617011 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short stature, Short neck, Cryptorchidism, Kyphosis, Hernia of the abdominal wall |
ORPHA:3082 |
| Osteogenesis Imperfecta, Type Xvii |
|
Vertebral compression fracture, Platyspondyly, Kyphoscoliosis |
OMIM:616507 |
| Mucopolysaccharidosis Type 4 |
|
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Kyph... |
ORPHA:582 |
| Transketolase Deficiency |
|
Proportionate short stature, Secondary amenorrhea, Self-injurious behavior, Compulsive behaviors,... |
ORPHA:488618 |
| Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Anorexia, Kyphosis, Abnormal subcut... |
ORPHA:1328 |
| Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, Sepsis, Leukopenia, Lymphocyt... |
OMIM:619991 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Scoliosis |
OMIM:300676 |
| Plasminogen Deficiency, Type I |
|
Blindness, Duodenal ulcer |
OMIM:217090 |
| Niemann-Pick Disease, Type C2 |
|
Ataxia, Dysphagia, Dementia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Impaired neutrophil chemotaxis, Babinski sign, Optic atrophy, Tr... |
ORPHA:3132 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Facial palsy, Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Failure to thrive, Slend... |
OMIM:254090 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon co... |
OMIM:620351 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Optic atrophy, Decreased circulating antibody level, Decreas... |
ORPHA:79330 |
| Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoax... |
OMIM:607326 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... |
OMIM:143095 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion... |
OMIM:619040 |
| Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Short stature, Short neck, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3098 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... |
OMIM:146500 |
| Noonan Syndrome 14 |
|
Short stature, Short neck, Cryptorchidism, Kyphosis, Lateral ventricle dilatation |
OMIM:619745 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Short stature, Abnormal dental enamel morphology, Chorioretinal dysplasia, Kypho... |
ORPHA:534 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis |
OMIM:112350 |
| Acrorenal-Mandibular Syndrome |
|
Kyphoscoliosis, Hemivertebrae, Narrow palate, High palate, Abnormal sacral segmentation, Butterfl... |
OMIM:200980 |
| Trisomy 20P |
|
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... |
ORPHA:261318 |
| Fucosidosis |
|
Lipoatrophy, Kyphosis, Seizure, Anterior beaking of lumbar vertebrae, Failure to thrive |
ORPHA:349 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Myopia, Speech apraxia, Dystonia, Ataxia, Cerebellar atrophy, Tremor, Inability to... |
OMIM:615356 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis |
ORPHA:90790 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
| Atelis Syndrome 2 |
|
Sacral dimple, Remnants of the hyaloid vascular system, Kyphosis, Hyperinsulinemia, Dysmetria, Se... |
OMIM:620185 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Congenital diaphragmatic hernia, Infantile s... |
OMIM:301044 |
| Williams-Beuren Syndrome |
|
Colonic diverticula, Failure to thrive in infancy, Kyphoscoliosis, Amblyopia, Retinal arteriolar ... |
OMIM:194050 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Blindness, Optic nerve dysplasia, Retinal dysplasia, Spasticity, Agenesis of corpus callosum |
OMIM:615287 |
| Rodrigues Blindness |
|
Blindness |
OMIM:268320 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Hemivertebrae, Scoliosis, Bi... |
ORPHA:97360 |
| Sotos Syndrome |
|
Astrocytoma, Flexion contracture, Abnormal vertebral morphology, Cryptorchidism, Seizure, Scolios... |
ORPHA:821 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal lateral ventricle morphology, Hyperactivity, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal lateral ventricle morphology, Hyperactivity, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353277 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, ... |
OMIM:176500 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ataxia, Retinal dystrophy, Short stature, Short neck, Rhizomelia, Rod-cone dystrophy, Seizure, Ma... |
OMIM:266920 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal fear-ind... |
ORPHA:353281 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Short neck, Generalized non-motor... |
OMIM:301091 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Cryptorchidism, Lateral ventricle dilatation, Distal arthrogryposis, Tip-toe gait,... |
OMIM:617557 |
| 3M Syndrome |
|
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral ... |
ORPHA:2616 |
| Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the... |
OMIM:253010 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Fat malabsorption, Steatorrhea |
ORPHA:309108 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of vision, Blindness |
ORPHA:1806 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Senior-Loken Syndrome 3 |
|
Visual loss, Polydipsia, Congenital blindness |
OMIM:606995 |
| Marfan Syndrome |
|
Retinal detachment, Myopia, Kyphoscoliosis, Narrow palate, High palate, Scoliosis, Spondylolisthesis |
OMIM:154700 |
| Tsh-Secreting Pituitary Adenoma |
|
Bitemporal hemianopia, Blindness, Abnormal visual field test, Tremor, Diplopia, Weight loss, Hemi... |
ORPHA:91347 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Recurrent lower respiratory tract infections, Sepsis, Recurrent infections |
ORPHA:363611 |
| Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Hydrocephalus, Flexion contracture, Hydrocele testis, Scolio... |
ORPHA:314588 |
| Zttk Syndrome |
|
Short stature, Dysplastic corpus callosum, Kyphosis, Flexion contracture, Hemivertebrae, Optic at... |
OMIM:617140 |
| Weill-Marchesani Syndrome 2 |
|
Blindness, Lumbar hyperlordosis, Spinal canal stenosis, Narrow palate, High myopia, High palate, ... |
OMIM:608328 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abnormal tongue morphology, Neoplasm of the... |
ORPHA:653 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Cleft palate, Kyphoscoliosis |
OMIM:601701 |
| Mend Syndrome |
|
Sacral dimple, Hyperactivity, Short stature, Kyphosis, Cryptorchidism, Hydrocephalus, Seizure, Ma... |
OMIM:300960 |
| Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
| Oliver Syndrome |
|
Bilateral tonic-clonic seizure, Camptodactyly of finger, Elbow flexion contracture, Knee flexion ... |
ORPHA:2920 |
| W Syndrome |
|
Bilateral tonic-clonic seizure, Camptodactyly |
ORPHA:2804 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615474 |
| Pierson Syndrome |
|
Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ... |
OMIM:609049 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615501 |
| Congenital Myopathy 13 |
|
Cleft palate, Kyphoscoliosis, High palate, Scoliosis |
OMIM:255995 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Recurrent pneumonia, Sepsis |
ORPHA:158668 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
| Mend Syndrome |
|
Sacral dimple, Hyperactivity, Short stature, Abnormal auditory evoked potentials, Aggressive beha... |
ORPHA:401973 |
| Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal circulating enzyme concentration or ac... |
ORPHA:217085 |
| Saul-Wilson Syndrome |
|
Irregular vertebral endplates, Nyctalopia, Platyspondyly, Hypoplasia of the odontoid process |
OMIM:618150 |
| Cowden Syndrome 1 |
|
Kyphosis, Angioid streaks of the fundus, Hydrocele testis, Seizure, Scoliosis, Subcutaneous lipoma |
OMIM:158350 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Photophobia, Blindness, Oral leukoplakia, Furrowed tongue |
OMIM:148210 |
| Knobloch Syndrome |
|
Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration... |
ORPHA:1571 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Hydrocephalus, Flexion contra... |
ORPHA:3042 |
| Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the ... |
OMIM:223800 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Vertebral clefting, Seizure, Colpocephaly, Thoraci... |
OMIM:301043 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Ataxia, Tremor, Inability to walk, Decreased circulating IgG2 le... |
OMIM:208900 |
| Melnick-Needles Syndrome |
|
Cleft palate, Failure to thrive, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:309350 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Short stature, Tonic seizure, Seizure, Lateral ventricle dilatation, Dysphagi... |
OMIM:618367 |
| Microphthalmia, Syndromic 1 |
|
Blindness, Lumbar hyperlordosis, Aganglionic megacolon, Kyphoscoliosis, Aggressive behavior, High... |
OMIM:309800 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal circulating enzyme concentration or ac... |
ORPHA:217093 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Seizure, Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum |
OMIM:300952 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Sepsis, Anemia, Neutropenia |
ORPHA:95455 |
| Mgat2-Cdg |
|
Infantile spasms, Kyphosis, Seizure, Scoliosis, Brain atrophy, Failure to thrive, Stereotypical h... |
ORPHA:79329 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Impaired pain sensation, Cryptorchidism, Typical absence seizure, Inabili... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Impaired pain sensation, Cryptorchidism, Typical absence seizure, Inabili... |
ORPHA:352665 |
| Cole-Carpenter Syndrome 2 |
|
Short stature, Postnatal growth retardation, Kyphosis, Hydrocephalus, Platyspondyly, Dentinogenes... |
OMIM:616294 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Short stature, Short neck, Kyphosis, Cryptorchidism, Hydroceph... |
OMIM:130720 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Scoliosis, Intestinal ... |
OMIM:235510 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Kyphosis, Obesity, Glucose intolerance, Abdominal obesity, Oligomenor... |
OMIM:219090 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Nyctalopia,... |
OMIM:619321 |
| Schwartz-Jampel Syndrome |
|
Short neck, Wrist flexion contracture, Abnormally ossified vertebrae, Short stature, Hyperlordosi... |
ORPHA:800 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Peripheral retinal avascularization, Kyphoscoliosis, Short neck, Large for gestatio... |
ORPHA:96334 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Short neck, Cryptorchidism, Partial agenesis of th... |
OMIM:210710 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Kyphoscoliosis, Short neck, Protruding tongue, Optic atrophy, Obesity, Macroglossi... |
OMIM:309580 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... |
ORPHA:573278 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Short neck, Cleft palate, High palate, Protein-losing enteropathy, Hepatic failure |
OMIM:235255 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Blindness, Amblyopia, Visual loss, Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2250 |
| Mucoepithelial Dysplasia, Hereditary |
|
Photophobia, Blindness, Melena, Furrowed tongue |
OMIM:158310 |
| Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... |
OMIM:115470 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Growth delay, Lateral ventricle dilatation, Intrauterine growth retardation, Agene... |
OMIM:612863 |
| Pineoblastoma |
|
Papilledema, Progressive neurologic deterioration, Paralysis, Progressive visual field defects, R... |
ORPHA:251909 |
| Marden-Walker Syndrome |
|
Severe short stature, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnormal form of the vert... |
ORPHA:2461 |
| Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Anorexia, Kyphosis, Optic atrophy, Seizu... |
ORPHA:394 |
| Tarp Syndrome |
|
Myopia, Failure to thrive, Optic atrophy, Cleft palate, Glossoptosis, Scoliosis, Abnormal duodenu... |
ORPHA:2886 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic ... |
ORPHA:79076 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental enamel morphology, Kyphosis, Hem... |
ORPHA:2916 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Inguinal hernia, Ataxia, Recurrent hand flapping, Frequent temper tantrums, Scoliosis, Attention ... |
OMIM:617062 |
| Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Lipoatrophy, Scoliosis |
ORPHA:64755 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, High palate, Scoliosis, Attention deficit hy... |
ORPHA:363700 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Kyphoscoliosis, Pyloric stenosis, High palate, Decreased body weight, Median cleft palate |
OMIM:617402 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Lateral ventricular asymmetry, Lipoatrophy, Kyphosis, Hydroc... |
OMIM:616914 |
| Hyper-Igd Syndrome |
|
Optic disc pallor, Increased circulating IgA level, Increased circulating IgD level, Nyctalopia, ... |
OMIM:260920 |
| Bruck Syndrome |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita |
ORPHA:2771 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Pituitary dwarfism, Hypoglycemia, Optic nerve hypoplasia, Hypogonadotropic... |
ORPHA:95494 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Lateral ventricle dilatation, Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Blindness, Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increa... |
ORPHA:79078 |
| Smith-Lemli-Opitz Syndrome |
|
Cerebellar atrophy, Sacral dimple, Diffuse cerebral atrophy, Short stature, Aganglionic megacolon... |
OMIM:270400 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Kyphosis, Moderate postnatal growth reta... |
ORPHA:1005 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Short stature, Thoracolumbar scoliosis, Congenital ... |
OMIM:265000 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyl... |
OMIM:617602 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Hypogonadism, Short neck |
ORPHA:2983 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Optic atrophy, Growth delay, Lateral ventricle dilatation, Optic nerve compression... |
OMIM:612301 |
| Floating-Harbor Syndrome |
|
Kyphoscoliosis, Aggressive behavior, Celiac disease, Short neck, Hypermetropia |
OMIM:136140 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Hydrocephalus, Scoliosis, Intrauterine... |
ORPHA:2075 |
| Hydroxykynureninuria |
|
Hypertonia, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Seizure, Lateral ventricle dilatation, Choroid plexus cyst |
ORPHA:293725 |
| Noonan Syndrome 1 |
|
Myopia, Failure to thrive in infancy, Kyphoscoliosis, Short neck, High, narrow palate, Cleft pala... |
OMIM:163950 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Epileptic spasm, Broad-based gait, Short stature, Cryptorchidism, Inability to... |
ORPHA:438213 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Polydipsia, Cholangitis, Portal hypertension, Bi... |
ORPHA:731 |
| Leopard Syndrome 1 |
|
Cleft palate, Spina bifida occulta, Kyphoscoliosis, Short neck |
OMIM:151100 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hep... |
ORPHA:2929 |
| Hartsfield Syndrome |
|
Growth delay, Cryptorchidism, Agenesis of corpus callosum, Bilateral tonic-clonic seizure |
OMIM:615465 |
| Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Bilateral tonic-clonic seizure |
ORPHA:79124 |
| Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Biconcave vertebral bodies, Neona... |
OMIM:259420 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Hiatus hernia, Cryptorchidism, Unsteady gait, Seizure, Scoliosis, Loss of ambulation, Abnormal re... |
OMIM:616682 |
| Wrinkly Skin Syndrome |
|
Kyphoscoliosis, High myopia, Progressive cerebellar ataxia, High palate, Failure to thrive |
ORPHA:2834 |
| Pycnodysostosis |
|
Rhizomelia, Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Disproportionate short... |
ORPHA:763 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Tetrapare... |
ORPHA:2785 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Facial palsy, Kyphosis, Scoliosis, Dysphagia, Arthrogryposis multiplex congenita |
OMIM:617143 |
| Lujo Hemorrhagic Fever |
|
Seizure, Bilateral tonic-clonic seizure, Dysphagia |
ORPHA:319213 |
| Monosomy 22Q13.3 |
|
Sacral dimple, Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Seizure, Bruxism, U... |
ORPHA:48652 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Short stature, Abnormal dental enamel morphology, Kyphosis, Abnormal... |
ORPHA:2050 |
| Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Kyphoscoliosis, Hyperconvex vertebral body endpl... |
ORPHA:93357 |
| Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Hernia,... |
ORPHA:583 |
| Alström Syndrome |
|
Thoracic scoliosis, Photophobia, Gastroesophageal reflux, Hepatic fibrosis, Elevated gamma-glutam... |
ORPHA:64 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Severe short stature, Aganglionic megacolon, Abnormal dental enamel... |
ORPHA:2273 |
| Mowat-Wilson Syndrome |
|
Flexion contracture, Agenesis of corpus callosum, Abnormal repetitive mannerisms, Ataxia, Short s... |
ORPHA:2152 |
| Hurler-Scheie Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Contracture of the distal interphalangea... |
OMIM:607015 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Short neck, Hepatosplenomegaly, High palate, Protein-losing enteropathy, Hepatic fa... |
ORPHA:1655 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Agenesis of corpus callosum, Self-mutilation, Oppositional defiant disorder, Cryptorchidism, Opti... |
OMIM:607872 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Loss of ambulation... |
ORPHA:666 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Seizure, Polyphagia |
OMIM:300942 |
| Lateral Meningocele Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the verteb... |
ORPHA:2789 |
| African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
| Mosaic Trisomy 1 |
|
Omphalocele, Thoracic scoliosis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow ... |
ORPHA:1692 |
| Leprosy |
|
Blindness, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, Abnormality of ... |
ORPHA:548 |
| Plague |
|
Splenomegaly, Sepsis |
ORPHA:707 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Cryptorchidism, Obesity, Scoliosis, Difficulty walking, Abnormal repetitive mann... |
OMIM:618653 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Short stature |
OMIM:617260 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Flexion contracture, Abnormal repetitive mannerisms, Agenesis of corpus callosum, Short stature, ... |
ORPHA:261537 |
| Hepatoerythropoietic Porphyria |
|
Abnormal circulating enzyme concentration or activity, Blindness, Paresthesia, Increased fecal po... |
ORPHA:95159 |
| Arboleda-Tham Syndrome |
|
Myopia, Dystonia, Cerebral visual impairment, Amblyopia, Optic atrophy, Lower limb hypertonia, Ga... |
OMIM:616268 |
| Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
| Smith-Lemli-Opitz Syndrome |
|
Short stature, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Short neck, Rh... |
ORPHA:818 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Severe short stature, Camptodactyly of finger, Kyphosis, Cryptorchidism, Scolios... |
ORPHA:2215 |
| Coffin-Siris Syndrome 1 |
|
Inguinal hernia, Sacral dimple, Short stature, Congenital diaphragmatic hernia, Aggressive behavi... |
OMIM:135900 |
| Ramon Syndrome |
|
Optic disc pallor, Short stature, Kyphosis, Seizure, Pigmentary retinopathy, Scoliosis, Decreased... |
OMIM:266270 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Kyphosis, Hydrocephalus, Cryptorchidism, Scoliosis |
OMIM:619951 |
| Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... |
ORPHA:90068 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Retinal detachment, Gastritis, Hematemesis, Visual loss, Diplopia, E... |
ORPHA:73263 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Severe short stature, Femoral hernia, Abnormal dental enamel morphology, Facial ... |
ORPHA:2658 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Short neck, Generalized non-motor (absence) seizure, Truncal obes... |
OMIM:612474 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Retinal degeneration |
OMIM:208500 |
| Kabuki Syndrome 1 |
|
Short stature, Bilateral tonic-clonic seizure with focal onset, Postnatal growth retardation, Cry... |
OMIM:147920 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Cachexia, Anorexia, Kyphosis, Scoliosis |
ORPHA:1969 |
| Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis |
OMIM:113500 |
| Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Weight loss, Gastrointestinal eosinophilia, Protein-losing enterop... |
OMIM:614162 |
| Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Lumbar scoliosis, Scoliosis, C... |
OMIM:609128 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Myopia, Dystonia, Amblyopia, Retinal arteriolar tortuosity, Babinski sign, Re... |
OMIM:175780 |
| Coffin-Siris Syndrome 12 |
|
Short stature, Facial palsy, Cryptorchidism, Noncommunicating hydrocephalus, Seizure, Hippocampal... |
OMIM:619325 |
| Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Kyphosis, Unsteady gait, Cerebral atrophy, Failure to thrive |
OMIM:615512 |
| Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... |
ORPHA:958 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contracture, Knee flexion co... |
OMIM:619194 |
| Dysostosis, Stanescu Type |
|
Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
ORPHA:1798 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Epileptic spasm, Cerebral atrophy, Seizure, Lateral ventricle dilatation, Intrauterine growth ret... |
OMIM:300896 |
| Alport Syndrome |
|
Macular degeneration, Retinal flecks, Dysphagia |
ORPHA:63 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ... |
ORPHA:2232 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Flexion contracture, Abnormal repetitive mannerisms, Agenesis of corpus callosum, Short stature, ... |
ORPHA:261552 |
| Cogan Syndrome |
|
Photophobia, Blindness, Reduced visual acuity |
ORPHA:1467 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia |
ORPHA:99646 |
| Renpenning Syndrome 1 |
|
Blindness, Cleft palate, Hypermetropia, High palate, Scoliosis, Anal atresia |
OMIM:309500 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Retinal detachment, Myopia, Intestinal malrotation, Hiatus hernia, Dysesthesia, Cleft palate, Hig... |
OMIM:601776 |
| Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Agitation, Kyphosis, Secondary amenorrhea |
OMIM:610489 |
| 17Q11 Microdeletion Syndrome |
|
Blindness, Retinal vascular proliferation, Kyphosis, Gastrointestinal stroma tumor, Abnormality o... |
ORPHA:97685 |
| Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
| Cowden Syndrome |
|
Ataxia, Short stature, Kyphosis, Seizure, Scoliosis, Lipoma, Failure to thrive |
ORPHA:201 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Small for gestational age, Short stature, Lateral ve... |
OMIM:619869 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis, Ventriculomegaly |
ORPHA:140 |
| Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Short neck, Large for gestational age, Esophageal ... |
OMIM:229850 |
| Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Blindness, Portal hypertension, Weight l... |
ORPHA:797 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Agitation, Kyphosis |
OMIM:219080 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity, Agitation, Kyphosis |
OMIM:610475 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
| Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Short stature, Postnatal growth retardation, Kyphosis, Inabilit... |
ORPHA:576 |
| Doors Syndrome |
|
Bilateral tonic-clonic seizure, Hemivertebrae, Optic atrophy, Focal impaired awareness seizure, L... |
ORPHA:79500 |
| Hajdu-Cheney Syndrome |
|
Inguinal hernia, Short stature, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Hydroceph... |
ORPHA:955 |
| Corneodermatoosseous Syndrome |
|
Photophobia, Nyctalopia, Hemeralopia |
ORPHA:3194 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Myopia, Failure to thrive, Ataxia, Kyphoscoliosis, Abnormal liver ... |
ORPHA:79318 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:99226 |
| Turner Syndrome |
|
Premature ovarian insufficiency, Failure to thrive in infancy, Short stature, Female infertility,... |
ORPHA:881 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Short neck, Hypoplasia of the small intestine, Hepatic fibrosis |
OMIM:200995 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Optic nerve compression, Visual impairment, Abnormality of visual evoked potentials |
ORPHA:667 |
| Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
| Gaucher Disease Type 1 |
|
Anorexia, Kyphosis, Growth delay, Delayed puberty, Vertebral compression fracture |
ORPHA:77259 |
| Aspartylglucosaminuria |
|
Short stature, Kyphosis, Cerebral atrophy, Seizure, Platyspondyly, Spondylolysis, Scoliosis, Hern... |
OMIM:208400 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Short stature, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Campt... |
OMIM:616894 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short stature, Cryptorchidism, Growth delay, Seizure, Hydrocele testis, Chordee, Scoliosis, Dysph... |
OMIM:619522 |
| Fraser Syndrome |
|
Anal stenosis, Blindness, Vertebral segmentation defect, Ectopic anus, High palate, Bifid tongue,... |
ORPHA:2052 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Blindness, Cleft palate, Abnormality of the anus |
OMIM:219000 |
| Congenital Erythropoietic Porphyria |
|
Blindness, Paresthesia, Increased fecal coproporphyrin 1, Increased stool urobilinogen concentration |
ORPHA:79277 |
| Williams Syndrome |
|
Dysmetria, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Compulsive behav... |
ORPHA:904 |
| Menke-Hennekam Syndrome 1 |
|
Blindness, Hypermetropia, Cleft palate, High palate, Gastroesophageal reflux, Scoliosis |
OMIM:618332 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... |
OMIM:618223 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Lateral ventricle dilatation, Flexion contracture, Disproportionate short-limb short stature, Ven... |
OMIM:619479 |
| Restrictive Dermopathy 1 |
|
Submucous cleft hard palate, Kyphoscoliosis |
OMIM:275210 |
| Microphthalmia, Syndromic 6 |
|
Myopia, Blindness, Retinal dystrophy, Cleft palate, High palate, Microglossia, Failure to thrive,... |
OMIM:607932 |
| Otopalatodigital Syndrome, Type Ii |
|
Kyphoscoliosis, Short neck, Cleft palate, Platyspondyly, Spondylolysis |
OMIM:304120 |
| Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral ventricle dilatation, Retinal dystrophy, Platyspondyly |
OMIM:263520 |
| Coffin-Lowry Syndrome |
|
Inguinal hernia, Short stature, Kyphosis, Lumbar kyphosis, Seizure, Scoliosis, Decreased body wei... |
OMIM:303600 |
| Pallister-Killian Syndrome |
|
Myopia, Sacral dimple, Anal stenosis, Intestinal malrotation, Kyphoscoliosis, Short neck, Obesity... |
OMIM:601803 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
| Poland Syndrome |
|
Diabetes mellitus, Congenital diaphragmatic hernia, Short neck, Retinal hamartoma, Kyphosis, Cryp... |
ORPHA:2911 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Dysphagia, Seizure, Difficulty walking, Scoliosis |
OMIM:619482 |
| Orofaciodigital Syndrome Type 2 |
|
Central retinal vessel vascular tortuosity, Bilateral tonic-clonic seizure, Short stature |
ORPHA:2751 |
| Autosomal Recessive Robinow Syndrome |
|
Inguinal hernia, Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Ve... |
ORPHA:1507 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Macroorchidism, Abnormal dental enamel morphology, Cachexia,... |
ORPHA:744 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis |
OMIM:617821 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Colpocephaly, Chordee |
ORPHA:477993 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Congenital s... |
OMIM:265380 |
| Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Seizure, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
| Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, V... |
OMIM:610915 |
| Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta |
OMIM:166220 |
| Marfan Syndrome |
|
Retinal detachment, Inguinal hernia, Cachexia, Kyphosis, Scoliosis, Attention deficit hyperactivi... |
ORPHA:558 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
| Occipital Horn Syndrome |
|
Orthostatic hypotension, Hiatus hernia, Kyphosis, Growth delay, Seizure, Platyspondyly |
OMIM:304150 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Scoliosis |
OMIM:619557 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty |
OMIM:619718 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:162300 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... |
OMIM:619472 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Kyphosis, Camptodactyly |
OMIM:619123 |
| Branchiooculofacial Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Postnatal growth retardation, Cryptorchidism, ... |
OMIM:113620 |
| Genitopatellar Syndrome |
|
Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Colpocephaly, Scoliosis, Dysph... |
OMIM:606170 |
| Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Kyphosis, Atypical scarring of skin, Pl... |
ORPHA:198 |
| Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, ... |
ORPHA:314769 |
| Cleidocranial Dysplasia 1 |
|
Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Enamel hypoplasia, S... |
OMIM:119600 |
| Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Kyphosis, Spinal canal stenosis, ... |
ORPHA:963 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Inguinal hernia |
OMIM:609944 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis |
OMIM:106300 |
| Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
| Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
| Wrinkly Skin Syndrome |
|
Inguinal hernia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Umbilical hernia, Failure to... |
OMIM:278250 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Cellulitis |
OMIM:153400 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Short stature, Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atrop... |
OMIM:619534 |
| Ring Chromosome 7 Syndrome |
|
Cleft palate, Lumbar kyphoscoliosis, Bifid uvula, Median cleft palate |
ORPHA:1449 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Abnormal dental enamel morphology |
ORPHA:85199 |
| Cerebrocostomandibular Syndrome |
|
Kyphosis, Short stature, Intrauterine growth retardation |
ORPHA:1393 |
| Yunis-Varon Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Anterior concavity of thoracic vertebrae... |
OMIM:216340 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportiona... |
OMIM:300106 |
