Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Spasticity, Basal ganglia gliosis, Rigidity, Myoclonus, Choreoathetosis, Gait distur... |
ORPHA:225154 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Writer's cramp, Leg dystonia, Craniofacial dystonia, Difficulty... |
OMIM:619565 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Broad-based... |
OMIM:607136 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Rigidity, Myoclonus, Gait disturbance, Babinski sign, Astrocytosis, Disinhibition, ... |
OMIM:600795 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myoclonus, Amyloido... |
ORPHA:282166 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Short stature, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor, G... |
OMIM:213200 |
Huntington Disease-Like 1 |
|
Poor fine motor coordination, Gait ataxia, Chorea, Abnormal posturing, Weight loss, Clumsiness, G... |
ORPHA:157941 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia, Athetosis, Dystonia |
OMIM:300857 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Spasticity, Shuffling gait, Parkinsonism, Rigidity, Apraxia, Gait di... |
OMIM:221820 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... |
ORPHA:204 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait ataxia, Spasticity, Spastic ataxia, Gait imbalance, Torticollis, Gait disturbance, Frequent ... |
OMIM:618369 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Paraparesis,... |
ORPHA:275872 |
Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Rigidity, Impulsivity, Tremor, Abnormal synaptic transmission, Gliosis, Dys... |
ORPHA:683 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Behavioral Variant Of Frontotemporal Dementia |
|
Abnormality of extrapyramidal motor function, Gait disturbance, Upper motor neuron dysfunction, A... |
ORPHA:275864 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Huntington Disease |
|
Gait ataxia, Chorea, Rigidity, Gliosis, Bradykinesia |
OMIM:143100 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Gait disturbance, Hand tremor, Gliosis, Tetraplegia, Distal ... |
OMIM:604484 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Short stature, Spastic tetraplegia, Small for gestational age, Limb dystonia, Cerebra... |
OMIM:619847 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Frequent falls, Dysphagia, Unsteady gait |
OMIM:615945 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Lateral ventricle dilatation, Apraxia, Myoclonus, Gait disturbance, Babinski sign, Gl... |
OMIM:221770 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment |
OMIM:617018 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Myoclonus, Gliosis, Hypertonia, Dysphagia |
OMIM:225753 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Lateral ventricle dilatation, Inability to walk, Small for gestational age... |
ORPHA:79243 |
Immunodeficiency 15A |
|
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... |
OMIM:618204 |
Machado-Joseph Disease |
|
Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:109150 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dysphagia, Dystonia, Fasciculations |
ORPHA:309169 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Small for gestational age, Gliosis, Hypertonia, Intrauterine growth retardation, Agen... |
OMIM:615095 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Immunodeficiency 84 |
|
Splenomegaly, Perianal abscess, B lymphocytopenia |
OMIM:619437 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Increased body mass index, Short stature, Small for gestational age, Gait disturbance... |
OMIM:300957 |
Hereditary Late-Onset Parkinson Disease |
|
Lewy bodies, Shuffling gait, Weight loss, Resting tremor, Parkinsonism, Rigidity, Akinesia, Parki... |
ORPHA:411602 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
Parkinson Disease 1, Autosomal Dominant |
|
Lewy bodies, Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclonus, Gait disturbance,... |
OMIM:168601 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Abnormal posturing, Tip-toe gait, Weight loss, Inability to walk, Gait disturbance, A... |
ORPHA:216866 |
Developmental And Epileptic Encephalopathy 14 |
|
Spasticity, Tetraplegia, Gliosis, Clonus |
OMIM:614959 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Hemiplegia, Ataxia, Agitation, Tremor |
OMIM:141500 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Short stature, Inability to walk, Titubation, Ataxia, Dystonic gait, Failure to thrive, Difficult... |
ORPHA:280210 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... |
ORPHA:216873 |
Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Gait imbalance, Falls, Akinesia, Parkinsonism, Rigidity, Eyelid apraxia, Limb dyston... |
OMIM:601104 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Slender build, Astrocytosis, Difficulty walking, Inability to walk |
OMIM:611087 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Gliosis |
OMIM:613002 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Spinocerebellar Ataxia 23 |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Dysmetr... |
OMIM:610245 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor |
ORPHA:217012 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lewy bodies, Lateral ventricle dilatation, Parkinsonism, Apraxia, Agitation, Polyphagia, Gliosis,... |
OMIM:607485 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Morm Syndrome |
|
Retinal dystrophy, Hyperactivity, Retinal atrophy |
ORPHA:75858 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Abnormal lower motor neuron morpho... |
OMIM:105550 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Hemimegalencephaly |
|
Hemiparesis, Abnormal neuron morphology, Myoclonus, Gliosis |
ORPHA:99802 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Chorea, Abnormal posturing, Resting tremor, Parkinsonism, Titubation, Gait disturban... |
ORPHA:225147 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Abnormal posturing, Tremor, Dysphagia, Dystonia |
OMIM:304700 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking |
ORPHA:423296 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim... |
ORPHA:90117 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign,... |
OMIM:128100 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Agitation, Failure to thrive, Tremor, Dystonia |
OMIM:619651 |
Progressive Non-Fluent Aphasia |
|
Lewy bodies, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Abnormal lower ... |
ORPHA:100070 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Substantia nigra gliosis, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Upper limb spasticity, Gait disturbance, Tremor, Overweight, Gliosis, Hyperkinetic... |
ORPHA:457240 |
Pick Disease Of Brain |
|
Disinhibition, Polyphagia, Gliosis |
OMIM:172700 |
Leigh Syndrome |
|
Spasticity, Ataxia, Failure to thrive, Gliosis, Dystonia |
OMIM:256000 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf... |
ORPHA:276435 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment, Gliosis |
OMIM:604218 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Restlessness, Extrapyramidal dyskinesia, Gliosis, Dysphagia, Opisthotonus, Dystonia |
OMIM:277470 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Spasticity, Gliosis, Agenesis of corpus callosum |
ORPHA:168486 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... |
OMIM:616053 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Dysphagia,... |
OMIM:618093 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Optic atrophy |
OMIM:619470 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy, Optic atrophy |
OMIM:274270 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Spasticity, Gait disturbance, Gliosis, Unsteady gait, Lethargy |
OMIM:603896 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Hyperactivity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Dyst... |
OMIM:615924 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... |
ORPHA:240103 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebral palsy, Limb hypertonia, Spastic tetraplegia, Ataxia, Babinski sign, Gliosis |
OMIM:612936 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia |
OMIM:617113 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Hippocampal sclerosis, Myoclonus, Tremor |
OMIM:615400 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Poor fine motor coordination, Dysdiadochokinesis, Truncal ataxia, Rigidity, Gait disturbance, Pol... |
ORPHA:309854 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder, Episodic ataxia |
OMIM:234500 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... |
ORPHA:363710 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Hepatosplenomegaly, A... |
ORPHA:2590 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Dysphagia |
OMIM:201550 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Inability to walk, Prog... |
ORPHA:845 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Hyperactivity, Optic atrophy |
OMIM:300983 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia, Absent circulating B cells |
OMIM:613501 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dysphagia, Dystonia |
OMIM:261630 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Myoclonus, Tremor, Alcoholism |
OMIM:159900 |
Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Reduction of oligodendroglia, Short stature, Inability to walk, Writer's... |
OMIM:312080 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis, Lower limb spasticity |
OMIM:615119 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Lethargy, Restlessness |
OMIM:605899 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Hsd10 Disease |
|
Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Spastic paraparesis, Tremor, Dysp... |
ORPHA:391417 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Pseudobulbar paralysis, Ataxia, Babinski sign, Gliosis |
OMIM:169500 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Myopathy, spheroid body |
|
Waddling gait, Tremor, Broad-based gait, Dysphagia |
OMIM:182920 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Small for gestational age, Ataxia, Tremor, Growth delay |
OMIM:278780 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Failure to thrive, Gliosis, Agenesis of corpus callosum |
OMIM:214150 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Small for gestational age, Rigidity, Choreoathetosis, Ataxia, Trem... |
OMIM:261640 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Dysphagia, Unsteady gait, Dystonia, Bradykinesia |
OMIM:128235 |
L-2-Hydroxyglutaric Aciduria |
|
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Spastic tetrapares... |
OMIM:236792 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Short stature, Torticollis, Myoclonus, Gait disturbance, T... |
OMIM:617284 |
Leigh Syndrome |
|
Chorea, Spasticity, Anemia, Neutropenia, Spastic diplegia, Hyperkinetic movements, Abnormality of... |
ORPHA:506 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Impulsivity, Tremor, Lower limb spasticity |
OMIM:619028 |
Brain-Lung-Thyroid Syndrome |
|
Chorea, Hyperactivity, Falls, Short stature, Involuntary movements, Apraxia, Clumsiness, Myoclonu... |
ORPHA:209905 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia, Br... |
ORPHA:306669 |
Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis, Agenesis of corpus callosum |
OMIM:300215 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Spastic tetraplegia, Hypochromic microcytic anemia, Head titubation, Growth delay, Vestibular are... |
ORPHA:3240 |
Supranuclear Palsy, Progressive, 2 |
|
Retrocollis, Gait imbalance, Falls, Postural tremor, Parkinsonism, Rigidity, Eyelid apraxia, Akin... |
OMIM:609454 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Dysphagia, Dystonia |
OMIM:617916 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Growth delay, Weight loss |
ORPHA:30925 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Myoclonic spasms, Rigidity, Babinski sign, Gliosis, Hypertonia, Clonus |
OMIM:614498 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... |
OMIM:213600 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... |
ORPHA:79263 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Myoclonus, Tremor, Frequent falls, Difficulty walking, Dysph... |
OMIM:159950 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Lethargy, Dystoni... |
OMIM:312170 |
Dopa-Responsive Dystonia |
|
Inability to walk, Parkinsonism, Rigidity, Poor coordination, Oculogyric crisis, Abnormality of e... |
ORPHA:255 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... |
ORPHA:454887 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... |
ORPHA:521406 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... |
OMIM:150550 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Shor... |
ORPHA:397946 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Absent circulating B cells |
OMIM:613500 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Hyperactivity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Growth delay, Dys... |
OMIM:612716 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Limb dystonia, Lethargy, Gliosis, Basal ganglia gliosis |
OMIM:604377 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive c... |
ORPHA:98763 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Spastic tetraplegia, Myoclonus, Ataxia, Pancytopenia, Gliosis, Lethargy, Gen... |
OMIM:618321 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Apraxia, Gait disturbance, Agitation,... |
ORPHA:3095 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... |
OMIM:600363 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Agitation, Tremor, Hypertonia, Dysphagia, Unst... |
OMIM:617435 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormal pyramidal sign, Spastic tetraplegia, Ataxia, Gliosis, Unsteady gait |
OMIM:256600 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Lingual dystonia, Inability to walk, Small for gestational age, Impaired oropharyngeal sw... |
ORPHA:404454 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing, Neutropenia, Failure to thrive, Growth delay, Thrombocytopenia, Lethargy, Nor... |
OMIM:614857 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Falls, Rigidity, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic ataxia, Spastic gait, At... |
OMIM:616795 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Attention deficit hyperactivity disorder, Ataxia |
OMIM:616421 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait |
OMIM:617917 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Paraparesis, Hand tremor, Incoordination, Gait disturbance, Babinski sign, Dysmetri... |
OMIM:302800 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Short stature, Limb hypertonia, Rigidity, Myoclonus, Ataxia, Failure to thrive, Impul... |
ORPHA:442835 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Shuffling gait, Spastic tetraplegia, Spastic gait, Resting tremor, Parkinsonism, Apraxia, Choreoa... |
OMIM:300055 |
4H Leukodystrophy |
|
Short stature, Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor f... |
ORPHA:289494 |
Kufor-Rakeb Syndrome |
|
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorab... |
OMIM:606693 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Myoclonus, Paralysis, Ataxia, Failure to thrive, Tetraparesis, Gliosis, Hypertonia, Astrocytosis |
OMIM:203700 |
Autosomal Dominant Cerebellar Ataxia |
|
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... |
ORPHA:99 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Glutathionuria |
|
Agenesis of corpus callosum, Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
Central Diabetes Insipidus |
|
Lethargy, Failure to thrive, Polydipsia, Weight loss |
ORPHA:178029 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Short stature, Postural tremor, Ataxia, Babinski sign, Delayed puberty, Dysmetria, Tr... |
OMIM:607694 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Gliosis, Agenesis of corpus callosum |
OMIM:616239 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Dysphagia, Hyperkinetic movements, Lethargy, ... |
OMIM:233910 |
Parkinson Disease, Late-Onset |
|
Lewy bodies, Resting tremor, Parkinsonism, Rigidity, Substantia nigra gliosis, Short stepped shuf... |
OMIM:168600 |
Behr Syndrome |
|
Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babinski sign, Dysmetria, Tremo... |
OMIM:210000 |
Congenital Disorder Of Deglycosylation 1 |
|
Chorea, Decreased body weight, Impaired oropharyngeal swallow response, Myoclonus, Dysmetria, Pai... |
OMIM:615273 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Shuffling gait, Resting tremor, Short stature, Parkinsonism, Tremor, Lower limb sp... |
ORPHA:3077 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Rigidity, Loss of ambulation, Tremor, Thrombocytopenia, Dystonia,... |
OMIM:615010 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Inability to walk, Ataxia, Failure to thrive, Tremor, Attention deficit hyperactivity disorder, H... |
OMIM:619556 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Impaired oropharyngeal swallow response, L... |
ORPHA:53351 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Paresthesia, Limb ataxia, Impaired pain sensation, Tremor, Frequent fall... |
OMIM:616719 |
Juvenile Huntington Disease |
|
Gait ataxia, Hyperactivity, Ataxia, Progressive cerebellar ataxia, Broad-based gait, Bradykinesia |
ORPHA:248111 |
Late-Infantile/Juvenile Krabbe Disease |
|
Neuromuscular dysphagia, Spastic diplegia, Clumsiness, Impaired tactile sensation, Gait disturban... |
ORPHA:206443 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... |
OMIM:619824 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Hyperkinetic movements, Parkinsonism, Ataxia, Tremor, Growth delay, Hypertonia, Action tr... |
OMIM:619738 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Tetraplegia, Gliosis, Spastic tetraplegia, Hypertonia |
OMIM:608033 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Tremor, Short stature, Hypertonia |
ORPHA:1368 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Astrocytosis, Decreased body weight, Inability to walk, Dysphagia |
ORPHA:258 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hemiparesis, Hypoesthesia, Tremor, Hypertonia, Dysplastic corpus callosum, Impaired vibratory sen... |
OMIM:619737 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia, Perianal abscess |
OMIM:618108 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Myoclonus, Ataxia, Babinski sign, Cerebellar gliosis, Dysmetria, Tremor, Steppage ga... |
OMIM:616505 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Cerebral palsy, Small for gestational age, Rigidity, Oculogyric crisis, Tremor, ... |
ORPHA:70594 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Short stature, Inability to walk, Ataxi... |
OMIM:614831 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor |
OMIM:616494 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... |
OMIM:617145 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Spasticity, Short stature, Postural tremor, Truncal ataxia, Myoclonus, Ataxia, Babinski sign, Gli... |
OMIM:301072 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Failure to thr... |
ORPHA:525731 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Opisthotonus, Inability to walk, Rigidity, Parapare... |
OMIM:607483 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Neuromuscular dysphagia, Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apr... |
ORPHA:240094 |
Familial Acute Necrotizing Encephalopathy |
|
Spasticity, Spastic tetraplegia, Rigidity, Gait disturbance, Gliosis, Hypertonia |
ORPHA:88619 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... |
OMIM:619705 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness of neck muscles, Gliosis, Inability to walk, Dysphagia |
ORPHA:26791 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
Mannosidosis, Alpha B, Lysosomal |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Limb ataxia, Babinski sign, Growth delay, Glios... |
OMIM:248500 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... |
OMIM:618049 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Inability to walk, Cataplexy, Upper limb spasticity, Ataxia, Growth delay, Lower limb spasticity,... |
OMIM:617193 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Spastic paraplegia, Failure to thrive, Tremor, Difficulty walking, Broad-based gait |
ORPHA:477673 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... |
OMIM:616005 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Poor fine motor coordination, Impaired vibration sensation in the lower limbs, Spastic ataxia, Pr... |
ORPHA:137898 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor, Dystonia, Splenomegaly |
OMIM:612126 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Developmental And Epileptic Encephalopathy 46 |
|
Failure to thrive, Tremor, Limb hypertonia, Dysphagia |
OMIM:617162 |
Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Lewy bodies, Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal mot... |
OMIM:614298 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
East Syndrome |
|
Inability to walk, Ataxia, Action tremor, Salt craving, Difficulty walking, Polydipsia |
ORPHA:199343 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Tremor, Agitation, Increased body weight |
ORPHA:276608 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Neurofibrillary tangles, Parkinsonism |
OMIM:606688 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Weight loss, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus,... |
OMIM:137440 |
Myopathy With Extrapyramidal Signs |
|
Chorea, Hyperactivity, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis,... |
OMIM:615673 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Neuromuscular dysphagia, Blepharospasm, Abnormal pyramidal sign, Falls, Akinesia, Parkinsonism, G... |
ORPHA:240071 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Impaired distal vibration sensation, Short stature, Pseudobulbar paralysis, Gait dist... |
OMIM:616586 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Basal ganglia gliosis, Myoclonus, Growth delay, Gliosis, Thrombocytopenia |
OMIM:614946 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired distal vibration sensation, Vocal cord paresis, Impaired tandem gait, Impaired pain sens... |
OMIM:619574 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Ataxia-Telangiectasia |
|
Spasticity, Short stature, Gait disturbance, Ataxia, Lymphopenia, Failure to thrive, Delayed pube... |
ORPHA:100 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity... |
OMIM:618877 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro... |
OMIM:603554 |
Cln5 Disease |
|
Hyperactivity, Spasticity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Clumsiness, Ata... |
ORPHA:228360 |
Variant Abeta2M Amyloidosis |
|
Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Cardiac amyloidosis, Renal amyloidosis, ... |
ORPHA:314652 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Short stature, Dysdiadochokinesis, Ataxia, Dysm... |
OMIM:614381 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Truncal ataxia, Oculomotor apraxia, Dis... |
OMIM:208920 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Short stature, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
Immunodeficiency 70 |
|
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells |
OMIM:618969 |
Cockayne Syndrome Type 3 |
|
Splenomegaly, Mild postnatal growth retardation, Unsteady gait, Difficulty walking, Astrocytosis,... |
ORPHA:90324 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Rhizomelia, Short stature, Gliosis |
OMIM:602613 |
Cerebrotendinous Xanthomatosis |
|
Somatic sensory dysfunction, Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, P... |
ORPHA:909 |
Mohr-Tranebjaerg Syndrome |
|
Ankle clonus, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Apraxia, Babinski sign,... |
ORPHA:52368 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia |
OMIM:618222 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Limb dystonia, Clumsines... |
OMIM:617013 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Short stature, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysm... |
ORPHA:1170 |
Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Abnormal pyramidal sign, Cerebral palsy, Choreoathetosis, Gait disturbance, Ataxia, T... |
ORPHA:765 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... |
OMIM:612736 |
Kleefstra Syndrome Due To A Point Mutation |
|
Failure to thrive, Large for gestational age, Short stature, Gliosis |
ORPHA:261652 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Polyphagia, Polydipsia, Truncal obesity |
OMIM:615986 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tip-toe gait, Gait disturbance, Babinski sign, Spastic paraplegia, Tremor, Abnormal astrocyte mor... |
ORPHA:83629 |
Parkinson Disease 8, Autosomal Dominant |
|
Lewy bodies, Resting tremor, Parkinsonism, Rigidity, Substantia nigra gliosis, Parkinsonism with ... |
OMIM:607060 |
Perry Syndrome |
|
Weight loss, Parkinsonism, Rigidity, Akinesia, Short stepped shuffling gait, Tremor, Disinhibitio... |
OMIM:168605 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Dysphagia, Progressive cerebellar at... |
OMIM:608768 |
Progressive Multifocal Leukoencephalopathy |
|
Gait ataxia, Somatic sensory dysfunction, Paresthesia, Parkinsonism, Hemiplegia/hemiparesis, Decr... |
ORPHA:217260 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait disturbance, Tremor, Diffic... |
ORPHA:98764 |
Vici Syndrome |
|
Leukopenia, Abnormal posturing, Decreased proportion of CD4-positive helper T cells, T lymphocyto... |
OMIM:242840 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Gait disturba... |
ORPHA:352649 |
Cystinosis |
|
Abnormal pyramidal sign, Short stature, Gait disturbance, Failure to thrive, Delayed puberty, Pol... |
ORPHA:213 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Waddling gait, Tremor, Attention deficit hyperactivity disorder, Glios... |
ORPHA:506358 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper motor neuron dysfunction, Babinski sign, Action tremor, Hypertonia, Dysphagia, Gait ataxia,... |
ORPHA:99027 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Falls, Parkinsonism, Rigidity,... |
ORPHA:99750 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Spasticity, Cerebral amyloid angiopathy, Ataxia, Neurofibrillary tangles, Intention tremor |
OMIM:117300 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Rigidity, Cerebral amyloid angiopathy, Tremor, Hypertonia |
OMIM:176500 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Spasticity, Hemiparesis, Amyloidosis, Ataxia, Paraplegia, Tremor |
OMIM:105210 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Spasticity, Small for gestational age, Truncal ataxia, Ataxia, Failure to thrive, Dysmetria, Trem... |
OMIM:220111 |
Whipple Disease |
|
Anemia, Abnormal pyramidal sign, Myoclonus, Cachexia, Ataxia, Splenomegaly, Polydipsia |
ORPHA:3452 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells |
OMIM:618048 |
Familial Cold Urticaria |
|
Dysesthesia, Polydipsia |
ORPHA:47045 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
Optic Atrophy 11 |
|
Hyperactivity, Gait apraxia, Optic atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Attention ... |
OMIM:617302 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Bone marrow hypocellularity, Th... |
OMIM:301078 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Dy... |
ORPHA:96 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Septo-Optic Dysplasia Spectrum |
|
Short stature, Hemiplegia/hemiparesis, Polydipsia, Obesity, Agenesis of corpus callosum |
ORPHA:3157 |
Senior-Loken Syndrome 4 |
|
Anemia, Polydipsia |
OMIM:606996 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Spastic tetraplegia, Myoclonic spasms, Growth delay, Hypertonia, Gliosis, Opisthotonus |
OMIM:252160 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraplegia, Myoclonic spasms, Spastic tetraparesis, Growth delay, Gliosis, Opisthotonus |
OMIM:252150 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia |
OMIM:614203 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Athetosis, Polydipsia, Spastic paraplegia |
ORPHA:369929 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:619405 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Dysdiadochokinesis, Short stature, Ataxia, Salt craving, Intention tremor, Polydipsia |
OMIM:612780 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Spastic tetraplegia, Limb hypertonia, Lateral ventricle dilatation, Limb dystonia, Ataxia, Dysmet... |
ORPHA:572798 |
Insulinoma |
|
Paresthesia, Abnormality of pain sensation, Tremor, Polyphagia, Lethargy, Increased body weight |
ORPHA:97279 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Intrauterine growth... |
OMIM:615578 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Gait imbalance, Myoclonus, Ataxia, Tremor, Abnormal eating behavior, Dysphagia, Ob... |
ORPHA:98794 |
Cockayne Syndrome |
|
Somatic sensory dysfunction, Spasticity, Splenomegaly, Limb hypertonia, Inability to walk, Progre... |
ORPHA:191 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Hyperactivity, Optic atrophy, Dysdiadochokinesis, Impulsivity, Dysmetria, Dysphagia,... |
OMIM:610217 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Agitation, Truncal titubation, Dysmet... |
OMIM:618056 |
Gitelman Syndrome |
|
Paresthesia, Paralysis, Ataxia, Failure to thrive, Delayed puberty, Growth delay, Salt craving, P... |
OMIM:263800 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Progressive ga... |
OMIM:606002 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Short stature, Lateral ventricle dilatation, Failure to thrive, Truncal obesity, A... |
OMIM:615873 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia |
OMIM:615966 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Akinesia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressiv... |
ORPHA:98773 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favorable response to dopamin... |
ORPHA:199351 |
Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Tremor, Weight loss, Parkinsonism |
ORPHA:178509 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Sandifer Syndrome |
|
Torticollis, Anemia, Abnormal posturing |
ORPHA:71272 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torticollis, Torsion dystonia, Tremor, Dysphagia |
OMIM:224500 |
Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... |
OMIM:613280 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short stature, Small for gestational age, Gait disturbance, Ataxia, Broad-based gait, Gliosis, Hy... |
ORPHA:268261 |
Bardet-Biedl Syndrome 17 |
|
Poor coordination, Obesity, Polydipsia |
OMIM:615994 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Spasticity, Lateral ventricle dilatation, Upper limb spasticity, Large for gestational age, Glios... |
OMIM:300868 |
Parkinson Disease 20, Early-Onset |
|
Shuffling gait, Parkinsonism, Rigidity, Eyelid apraxia, Involuntary movements, Short stepped shuf... |
OMIM:615530 |
Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... |
OMIM:612953 |
Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Short stature, Dysdiadochokinesis, Inability to walk... |
OMIM:208900 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Aplasia of ... |
OMIM:602450 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Sideroblastic anemia, Ataxia, Tremor, Growth delay, Dysphagia, Thrombocytop... |
OMIM:222300 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:620133 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Akinesia, Parkinsonism, Rigidity, Torticollis, Limb ataxia, A... |
ORPHA:48818 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Short stature, Polydipsia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Short stature, Polydipsia |
OMIM:304800 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:606367 |
Hyperlysinemia |
|
Hyperactivity, Tip-toe gait, Spastic diplegia, Short stature, Clumsiness, Poor motor coordination... |
ORPHA:2203 |
Parkinson Disease 21 |
|
Lewy bodies, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:616361 |
D-Bifunctional Protein Deficiency |
|
Failure to thrive, Splenomegaly, Gliosis |
OMIM:261515 |
Purine Nucleoside Phosphorylase Deficiency |
|
Spastic diplegia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, At... |
OMIM:613179 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Alexander Disease |
|
Chorea, Spasticity, Abnormal pyramidal sign, Tetraplegia, Gait disturbance, Ataxia, Failure to th... |
ORPHA:58 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, W... |
ORPHA:98849 |
Pyruvate Carboxylase Deficiency |
|
Abnormal pyramidal sign, Tip-toe gait, Basal ganglia gliosis, Ataxia, Cerebellar gliosis, Failure... |
ORPHA:3008 |
Alternating Hemiplegia Of Childhood |
|
Chorea, Abnormal pyramidal sign, Rigidity, Oculomotor apraxia, Episodic hemiplegia, Choreoathetos... |
ORPHA:2131 |
Papillorenal Syndrome |
|
Gliosis, Short stature |
OMIM:120330 |
Unilateral Polymicrogyria |
|
Poor fine motor coordination, Abnormal posturing, Spastic tetraplegia, Hemiparesis, Pseudobulbar ... |
ORPHA:268943 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis, Hyperactivity, Blepharospasm, Spasticity, Abnormal pyramidal sign, Akinesia, Park... |
OMIM:234200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Failure to thrive, Spasticity, Gliosis, Ataxia |
OMIM:124000 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Short stature, Intrauterine growth retardation, Polydipsia |
ORPHA:320 |
Young-Onset Parkinson Disease |
|
Spasticity, Gait imbalance, Rigidity, Agitation, Impulsivity, Tremor, Dystonia, Bradykinesia |
ORPHA:2828 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Short stature, Growth delay, Polydipsia |
ORPHA:223 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Ataxia, Failure to thrive, Tremor, Lethargy, Splenomegaly |
OMIM:201100 |
Erdheim-Chester Disease |
|
Ataxia, Anemia, Polydipsia, Weight loss |
ORPHA:35687 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Anemia, Splenomegaly, Polydipsia |
OMIM:239200 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Chorea, Short stature, Inability to walk, Truncal ataxia, Ataxia, Waddling gait, Tremor, Difficul... |
OMIM:615356 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, B lymphocytopenia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:614700 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... |
ORPHA:35078 |
Teratoma, Pineal |
|
Hemiparesis, Polydipsia |
OMIM:273120 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Neutropenia, Pancytopenia, Failure to thrive, Tremor, Thrombocytopenia, Lethargy |
OMIM:251100 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Niemann-Pick Disease Type C |
|
Limb dystonia, Cataplexy, Upper motor neuron dysfunction, Hepatosplenomegaly, Axial dystonia, Fre... |
ORPHA:646 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Toxic Epidermal Necrolysis |
|
Anemia, Weight loss, Dysphagia, Thrombocytopenia, Neutropenia, Polydipsia |
ORPHA:537 |
Diets-Jongmans Syndrome |
|
Attention deficit hyperactivity disorder, Gliosis, Short stature |
OMIM:618846 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Amyloidosis, Familial Visceral |
|
Generalized amyloid deposition, Splenomegaly |
OMIM:105200 |
Wolfram Syndrome |
|
Ataxia, Delayed puberty, Anemia, Polydipsia |
ORPHA:3463 |
Alzheimer Disease 4 |
|
Apraxia, Cerebral amyloid angiopathy, Neurofibrillary tangles |
OMIM:606889 |
Renal Hypoplasia |
|
Small for gestational age, Polydipsia |
ORPHA:93101 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomegaly |
OMIM:616084 |
Nephronophthisis 4 |
|
Anemia, Growth delay, Polydipsia |
OMIM:606966 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Gliosis |
OMIM:617403 |
Cerebral Amyloid Angiopathy, App-Related |
|
Cerebral amyloid angiopathy, Paresthesia |
OMIM:605714 |
Nephronophthisis 1 |
|
Anemia, Growth delay, Polydipsia |
OMIM:256100 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Short stature, Paralysis, Failure to thrive, Growth delay, Polydipsia |
ORPHA:18 |
Nephronophthisis 11 |
|
Anemia, Growth delay, Polydipsia |
OMIM:613550 |
Arima Syndrome |
|
Ataxia, Anemia, Growth delay, Polydipsia |
OMIM:243910 |
Oligomeganephronia |
|
Small for gestational age, Polydipsia |
ORPHA:2260 |
Gitelman Syndrome |
|
Paresthesia, Paralysis, Failure to thrive, Delayed puberty, Salt craving, Iron deficiency anemia,... |
ORPHA:358 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Neutropenia, B lymphocytopenia |
OMIM:601495 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Rabson-Mendenhall Syndrome |
|
Severe postnatal growth retardation, Short stature, Intrauterine growth retardation, Polydipsia |
ORPHA:769 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Aa Amyloidosis |
|
Renal amyloidosis, Amyloidosis |
ORPHA:85445 |
Acys Amyloidosis |
|
Cerebral amyloid angiopathy, Amyloidosis |
ORPHA:100008 |
Idiopathic Trachyonychia |
|
Amyloidosis, Autoimmune thrombocytopenia |
ORPHA:79153 |
Panhypophysitis |
|
Polydipsia, Normochromic anemia |
ORPHA:95513 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia |
ORPHA:293978 |
Pituitary Dermoid And Epidermoid Cysts |
|
Abnormal central motor function, Polydipsia |
ORPHA:91351 |
3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Tremor, Growth delay, Hypertonia, Clonus, Dysphagia, Neutropenia, Dystonia |
OMIM:617248 |
Cystinosis, Nephropathic |
|
Weight loss, Short stature, Delayed puberty, Growth delay, Dysphagia, Failure to thrive in infanc... |
OMIM:219800 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, Reduced natural killer cell count, B lymphocytopenia, Decrea... |
ORPHA:221139 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Lymphopenia, Severe B lymphocytopenia, Accessory spleen, Thrombocytopenia |
OMIM:620005 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Growth delay, Polydipsia |
ORPHA:411629 |
Senior-Boichis Syndrome |
|
Anemia, Agitation, Hepatosplenomegaly, Attention deficit hyperactivity disorder, Polydipsia |
ORPHA:84081 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Polydipsia |
OMIM:248250 |
Abeta Amyloidosis, Dutch Type |
|
Cerebral amyloid angiopathy |
ORPHA:100006 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymph... |
ORPHA:391487 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Q Fever |
|
Anemia, Weight loss, Granuloma, Amyloidosis, Hepatosplenomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:781 |
Bartter Syndrome, Type 2, Antenatal |
|
Paresthesia, Short stature, Small for gestational age, Failure to thrive, Polydipsia |
OMIM:241200 |
Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Growth delay, Polydipsia |
ORPHA:411634 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Impaired pain sensation, Delayed puberty, Polyphagia, Obesity, Polydipsia |
ORPHA:293987 |
Parathyroid Carcinoma |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:143 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Proximal Renal Tubular Acidosis |
|
Short stature, Mild postnatal growth retardation, Failure to thrive, Growth delay, Polydipsia |
ORPHA:47159 |
Agammaglobulinemia, X-Linked |
|
Anemia, Neutropenia, T lymphocytopenia, B lymphocytopenia |
OMIM:300755 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatic amyloidosis, AA amyloidosis |
OMIM:142680 |
Senior-Loken Syndrome 1 |
|
Anemia, Polydipsia |
OMIM:266900 |
Helix Syndrome |
|
Polydipsia |
OMIM:617671 |
Alg12-Cdg |
|
Thrombocytopenia, B lymphocytopenia |
ORPHA:79324 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia |
OMIM:251260 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Polydipsia |
OMIM:602522 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis, Failure to thrive in infancy |
OMIM:301220 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Renal amyloidosis, Renal interstitial amyloid deposits, Cutaneous amyloidosis |
ORPHA:439232 |
Primary Sclerosing Cholangitis |
|
Weight loss, Amyloidosis, Abnormal eosinophil morphology, Hepatosplenomegaly, Histiocytosis, Sple... |
ORPHA:171 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Hepatosplenomegaly, Growth delay, Thrombocytopenia, Splenomegaly, Polydipsia |
ORPHA:731 |
Familial Mediterranean Fever |
|
Amyloidosis, Neutrophilia, Leukocytosis, Renal amyloidosis, Splenomegaly |
OMIM:249100 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Dysphagia |
ORPHA:99880 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Absent circulating B cells |
OMIM:307200 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... |
OMIM:619381 |