| Major Depressive Disorder |
|
Depression |
OMIM:608516 |
| Major Affective Disorder 1 |
|
Depression, Mania |
OMIM:125480 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa... |
ORPHA:225154 |
| Spinal Muscular Atrophy, Type Iii |
|
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Hand tremor, Lower limb... |
OMIM:253400 |
| Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Frequent falls, Distal lower limb amyo... |
ORPHA:100984 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal ... |
OMIM:105550 |
| Obsessive-Compulsive Disorder |
|
Compulsive behaviors, Skin-picking, Depression, Collectionism |
OMIM:164230 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:613954 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... |
ORPHA:275872 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Abnormal exteroceptive sensation, ... |
OMIM:205100 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Ankle flexion contracture, Distal amyotrophy, Spasticity, Spastic p... |
ORPHA:320370 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Cerebral cortical atrophy, Falls, Resting tremor, E... |
ORPHA:306692 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis |
OMIM:300857 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Distal amyotrophy, Spastic paraparesis, Tip-toe gait, Bradykinesia, Neurodegeneration, Rigidity, ... |
OMIM:615643 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Skeletal muscle atrophy, Cerebellar atrophy, Bradykinesia, Gait ataxia, Ataxia,... |
OMIM:601238 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Falls, Resting tremo... |
OMIM:617225 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Multiple joint contractures, Trem... |
ORPHA:521406 |
| Amyotrophic Lateral Sclerosis 11 |
|
Upper motor neuron dysfunction, Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic... |
OMIM:612577 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... |
OMIM:300423 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Degeneration of the striatum, Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesi... |
OMIM:609161 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Lower limb muscle weakness, Loss of ambulation, Weakness of the in... |
OMIM:614373 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Cerebral atrophy, Postural tremor, Limb dysmetria, Action tremor, Intention t... |
ORPHA:98762 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Cerebellar atrophy, Bradykinesia, Chorea, Limb ataxia, Positive Romberg sign, G... |
OMIM:607136 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Gait ataxia, Cogwheel ... |
OMIM:128230 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Tip-toe gait, Hand tremor, Hand muscle weakness, Incoordination, Difficulty w... |
OMIM:302800 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... |
ORPHA:300605 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Rigidity, Parkinso... |
OMIM:221820 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Park... |
OMIM:260300 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Proximal amyotrophy,... |
OMIM:604484 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, Tr... |
ORPHA:101110 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... |
OMIM:615157 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Limb dystonia, Gait ataxia, Craniofacial dystonia, Parkinsoni... |
ORPHA:71517 |
| Huntington Disease |
|
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst... |
OMIM:143100 |
| Spinal Muscular Atrophy, Type Ii |
|
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... |
OMIM:253550 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fasciculations, Proximal amyotrophy, Gait disturbance, Neuronal lo... |
OMIM:608030 |
| Juvenile Huntington Disease |
|
Broad-based gait, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atrophy, Chorea, Gait ataxi... |
ORPHA:248111 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... |
OMIM:607641 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetrapar... |
OMIM:617892 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Shuffling gait, Cerebellar atrophy, Cerebral atrophy, Hand muscle weakness, Muscle fiber atrophy,... |
ORPHA:254886 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Limb myoclonus, Postural tremor, Limb ataxia, Ga... |
OMIM:619862 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Leg muscle stiffness, Restin... |
ORPHA:391411 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Hypomimic face, Brady... |
OMIM:300911 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism, Hyperton... |
OMIM:618824 |
| Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr... |
ORPHA:100070 |
| Amyotrophic Lateral Sclerosis 1 |
|
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar ... |
OMIM:105400 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Bradykinesia, Chorea, Dysmetria, Parkinsonism, Abnormal pyramidal sign, Ataxia, Hypoesthesia, Dys... |
OMIM:618317 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Difficulty w... |
OMIM:159950 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Caribbean Parkinsonism |
|
Cerebral cortical atrophy, Bradykinesia, Myoclonus, Action tremor, Rigidity, Progressive gait ata... |
ORPHA:97355 |
| Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Spastic paraplegia, Bradykinesia, Limb ataxia, Babinski sign, Lower limb spasticity, Gait disturb... |
OMIM:618418 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short stepped shuffling gait, Shuffling gait, Frontotemporal cerebral atrophy, Falls, Diffuse cer... |
ORPHA:412066 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Paralysi... |
OMIM:105500 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia |
OMIM:606438 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... |
OMIM:602099 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... |
ORPHA:204 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Tongue fasciculations, Cerebral cortical atrophy, Distal amyotrophy, Congenital contracture, Hand... |
OMIM:607596 |
| Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... |
ORPHA:210571 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para... |
OMIM:606777 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Shuffling gait, Pill-rolling tremor, Bradykinesia, Rigidity, Loss of ambulation, Park... |
OMIM:615528 |
| Inherited Creutzfeldt-Jakob Disease |
|
Global brain atrophy, Central nervous system degeneration, Progressive extrapyramidal muscular ri... |
ORPHA:282166 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Skeletal muscle atrophy, Fasciculations, Rigidity, Ataxia, Bradykinesia |
OMIM:183050 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski si... |
ORPHA:314632 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Distal amyotrophy, Upper limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impairme... |
OMIM:302802 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Paralysis, Lethargy, Lowe... |
OMIM:613710 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Ga... |
OMIM:213600 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... |
ORPHA:95434 |
| Amyotrophic Lateral Sclerosis 8 |
|
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... |
OMIM:608627 |
| Machado-Joseph Disease Type 3 |
|
Spasticity, Degeneration of the striatum, Skeletal muscle atrophy, Cerebellar atrophy, Spinocereb... |
ORPHA:276244 |
| Amyotrophic Lateral Sclerosis 9 |
|
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Unsteady gait, Torticollis, Hypomimic face, Dystonia |
OMIM:128235 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Park... |
OMIM:258450 |
| Huntington Disease |
|
Involuntary movements, Decreased body mass index, Degeneration of the striatum, Cerebral atrophy,... |
ORPHA:399 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Leg muscle stiffness, Bradykinesia, Akinesia, Myoclonus, Tremor, ... |
OMIM:606693 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Cerebral cortical hemiatroph... |
ORPHA:306669 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Ataxia, Skeletal muscle hypertrophy |
ORPHA:99014 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic gait, Spastic tetraparesis, Abnormal pyramidal sign, Short stature, Bradyki... |
OMIM:619052 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal sensory impairment, Poor fine motor coordination, Impaired vibratory sensation, Somatic se... |
ORPHA:99947 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia, Myoclonus, ... |
ORPHA:101150 |
| Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
| Childhood-Onset Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... |
ORPHA:171439 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar ... |
OMIM:109150 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... |
OMIM:616437 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Myoclonus, Babinski... |
OMIM:619065 |
| Pontocerebellar Hypoplasia Type 1 |
|
Tongue fasciculations, Spasticity, Cerebral cortical atrophy, Skeletal muscle atrophy, Failure to... |
ORPHA:2254 |
| Leber Optic Atrophy And Dystonia |
|
Spasticity, Skeletal muscle atrophy, Bradykinesia, Upper motor neuron dysfunction, Dystonia, Athe... |
OMIM:500001 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Cerebral cortical atrophy, Astrocytosis, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Ne... |
OMIM:600795 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Ataxia, Spasticity, Laryngeal dystonia, Bradykinesia, Neurodegeneration, Chorea, T... |
OMIM:606159 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Lethargy, Hypertonia, Ataxia, Dys... |
ORPHA:71277 |
| Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, S... |
ORPHA:2815 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Incoordination, Chorea, Gai... |
ORPHA:157941 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Somatic sensory ... |
ORPHA:101077 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar ... |
OMIM:183090 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:240103 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Dystonia, Smal... |
OMIM:261640 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... |
ORPHA:600 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnorm... |
OMIM:602433 |
| Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Skeletal muscle atrophy, Cerebellar atrophy, Bradykinesia, Fascicu... |
ORPHA:98755 |
| Amyotrophic Lateral Sclerosis |
|
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... |
ORPHA:803 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Bradykinesia, Progressive ext... |
ORPHA:454887 |
| Infantile Dystonia-Parkinsonism |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Chorea, Parkinsonism, Abnormal pyramidal sign, L... |
ORPHA:238455 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... |
ORPHA:171442 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Bradykinesia, Postural tre... |
OMIM:600116 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Short stature, Dystonia |
OMIM:617836 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Babinski sign, Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612069 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity |
ORPHA:228169 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Ataxia, Spasticity, Broad-based gait, Bradykinesia, Inability to walk, Myoclonus, Pontocerebellar... |
OMIM:617854 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Amyotrophic lateral sclerosis, F... |
ORPHA:52430 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... |
ORPHA:240085 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Cerebellar vermis atrophy, Tremor... |
OMIM:617435 |
| Mast Syndrome |
|
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weakness, Cerebral... |
OMIM:248900 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... |
OMIM:616053 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, Rigidity, Parkin... |
ORPHA:329284 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsiflexor weakness... |
ORPHA:496756 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Distal lower limb muscle weakness, Paralysis, Difficulty walking |
OMIM:608634 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... |
ORPHA:726 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Difficulty walking, Distal lower limb amyotrophy, Claw hand deformity, Distal sensory impairment,... |
OMIM:605285 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Limb dystonia, Opisthotonus, Parkinsonism, Hypomimic face, Bradykinesia, Tip-toe gait... |
OMIM:617013 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Spastic gait, Shuffling gait, Resting tremor, Bradykines... |
OMIM:300055 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype... |
OMIM:613135 |
| Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, So... |
OMIM:616924 |
| Juvenile Primary Lateral Sclerosis |
|
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... |
ORPHA:247604 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Oculogyric crisis, Bradykinesia, Parkinsonism, Limb hypertonia, Hypertonia, Dys... |
OMIM:617384 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable response to dopam... |
OMIM:619279 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Hypomimic fac... |
ORPHA:70594 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Impaired vib... |
ORPHA:444099 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... |
OMIM:616710 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
| Gerstmann-Straussler Disease |
|
Spasticity, Cerebellar atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Myoclonus, ... |
OMIM:137440 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Babinski sign, Parkinsonism, Ataxia |
OMIM:615911 |
| Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Chorea, Bradykinesia, Ataxia |
OMIM:618683 |
| Amyotrophic Lateral Sclerosis 20 |
|
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Tongue fasciculations, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:613435 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Neurodegeneration, Akine... |
OMIM:300894 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... |
OMIM:607483 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont... |
OMIM:616286 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Cerebral atrophy, Polymicrogyria, Bradykinesia, Inability to walk, Gai... |
OMIM:618877 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra... |
ORPHA:363654 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
| Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... |
OMIM:612067 |
| Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:620482 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar ... |
ORPHA:423275 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Invol... |
ORPHA:401768 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Distal amyotrophy, Failure to thrive, Denervation of the diaphragm, Camptodactyly of finger, Intr... |
OMIM:604320 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, A... |
OMIM:300623 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Tongue fasciculations, Multiple joint contractures, Myopathy, Spinal muscular atrophy, Flexion co... |
OMIM:301830 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Tremor, Ataxia, Generalized cerebral atrophy/hypoplasia, Bradykinesia, Poor fine ... |
ORPHA:36387 |
| Frontotemporal Dementia |
|
Parkinsonism, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Tongue fasciculations, Abnormal anterior horn cell morphology, Skeleta... |
ORPHA:1145 |
| Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Loss of ambulation, Clonus, Ataxia, Unsteady gait, Tip-toe gait,... |
OMIM:614877 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Oculogyric crisis, Falls, Bradykinesia, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opis... |
ORPHA:13 |
| Adrenoleukodystrophy |
|
Spastic paraplegia, Lower limb muscle weakness, Incoordination, Neurodegeneration, Limb ataxia, P... |
OMIM:300100 |
| Acute Peripheral Arterial Occlusion |
|
Paralysis, Paresthesia, Limb muscle weakness, Impaired distal tactile sensation |
ORPHA:90064 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Progressive extrapy... |
ORPHA:53351 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Impaired pain sensation, Impaired temperature sensation, Abnormal m... |
DECIPHER:29 |
| Oculopharyngodistal Myopathy 3 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis, Abnormality of extrapyramidal moto... |
ORPHA:275864 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Limb fasciculations, Dysmetria, Dis... |
OMIM:603516 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre... |
OMIM:157640 |
| Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
ORPHA:609 |
| Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Calf muscle ... |
OMIM:256030 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Lower limb muscle weakne... |
OMIM:613647 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Poor fine motor coordinatio... |
ORPHA:99948 |
| Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia |
ORPHA:140989 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal lower limb amyotrophy, Dysmetria, Los... |
OMIM:616680 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Difficulty walking, Limb ataxia, Gait ataxia, Myoclonus, Clumsiness, Torticol... |
ORPHA:98768 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, N... |
OMIM:617672 |
| Spastic Paraparesis And Deafness |
|
Short stature, Spastic paraparesis, Tremor |
OMIM:312910 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... |
OMIM:611637 |
| Neuroferritinopathy |
|
Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk... |
ORPHA:157846 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Proximal muscle weakness i... |
ORPHA:101097 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Arm dystonia, Episodic ataxia, Incoordination, Bradykinesia, Gait ataxia, Dysmetria, Hemiparesis,... |
OMIM:601338 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:619733 |
| Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Bradykinesia, Cerebellar vermis atr... |
ORPHA:98760 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Bradykinesia, Rigidity, Babinski si... |
ORPHA:289560 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Progressive spasticity, Distal amyotrophy, Lower limb muscle weakness,... |
ORPHA:2822 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... |
ORPHA:266 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... |
OMIM:607706 |
| Dravet Syndrome |
|
Global brain atrophy, Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Prog... |
ORPHA:33069 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Append... |
OMIM:606353 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Axial dystonia, Tr... |
OMIM:601104 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F... |
OMIM:618848 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... |
ORPHA:99750 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| X-Linked Adrenoleukodystrophy |
|
Leg muscle stiffness, Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordinatio... |
ORPHA:43 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Bradykinesia, Hemiplegia, Chorea, G... |
ORPHA:225147 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Bradykinesia, Akinesia, Gait ... |
ORPHA:240071 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ... |
OMIM:619911 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Distal amyotrophy, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weaknes... |
OMIM:614487 |
| Multiple System Atrophy |
|
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... |
ORPHA:102 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... |
OMIM:300835 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Dystoni... |
OMIM:619725 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Generalized dystonia, Impaired vibration sensation in the lower limbs, Postural tremor, Limb dyst... |
ORPHA:98808 |
| Lethal Congenital Contracture Syndrome 8 |
|
Distal amyotrophy, Facial diplegia, Distal sensory impairment, Distal arthrogryposis, Vocal cord ... |
OMIM:616287 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... |
ORPHA:227510 |
| Idiopathic Camptocormia |
|
Myelitis, Amyotrophic lateral sclerosis, Cerebral atrophy, Proximal spinal muscular atrophy, Abno... |
ORPHA:1320 |
| Hereditary Late-Onset Parkinson Disease |
|
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Bradykinesia, Akinesia, Rigidity, Park... |
ORPHA:411602 |
| Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity |
OMIM:613643 |
| Machado-Joseph Disease Type 1 |
|
Spasticity, Degeneration of the striatum, Skeletal muscle atrophy, Cerebellar atrophy, Spinocereb... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Spasticity, Degeneration of the striatum, Skeletal muscle atrophy, Cerebellar atrophy, Spinocereb... |
ORPHA:276241 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor... |
OMIM:612953 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia |
ORPHA:67047 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Cerebellar atrophy, Inability to walk, Gait ataxi... |
OMIM:617915 |
| Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... |
ORPHA:98933 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Pelvic girdle muscle ... |
OMIM:167320 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Difficulty walk... |
OMIM:614895 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Global brain atrophy, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Loss of ... |
OMIM:168601 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... |
OMIM:601954 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis, Hemiparesis |
OMIM:607341 |
| Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... |
ORPHA:98757 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
| Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Rigidity |
ORPHA:306686 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Tetraparesis, Lethargy, Paraparesis, Ataxia, Choreoathetosis |
ORPHA:27 |
| Boucher-Neuhauser Syndrome |
|
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... |
OMIM:215470 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Hsd10 Disease |
|
Spastic paraparesis, Frontotemporal cerebral atrophy, Postnatal growth retardation, Myoclonus, Tr... |
ORPHA:391417 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic paraplegia, Failure to thr... |
OMIM:238970 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Distal amyotrophy, Spastic paraparesis, Cerebellar atrophy, Lower limb muscle weaknes... |
ORPHA:313772 |
| Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Tongue fasciculations, Failure to thrive, Camptod... |
OMIM:614399 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sign, Spastic atax... |
OMIM:613672 |
| Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
| Gm2-Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Spastic tetraparesis, Neurodegeneration, Chorea, Paralysis, Abnormal pyramidal ... |
OMIM:272750 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Spastic paraplegia, Distal amyotrophy, Spastic paraparesis, Spastic gait, Lower limb muscle weakn... |
OMIM:275900 |
| Perry Syndrome |
|
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss... |
OMIM:168605 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Cerebral cortical atrophy, Falls, Bradykinesia, Tremor, Rigidity, Gliosis, Neurona... |
ORPHA:683 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... |
OMIM:608099 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Neurodegeneration, Chorea, Gait a... |
OMIM:610217 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Slender build, Difficulty walking, Astrocytosis, Facial hypotonia |
OMIM:611087 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Progressive spastic paraplegia, Bradykinesia, Myoclonus, Intention tremor, Paroxysmal dystonia, L... |
ORPHA:466722 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Resting tremor, Bradykinesia, Tremor, Rigidity, Substantia nigra gl... |
OMIM:168600 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Cerebral cortical atrophy, L... |
OMIM:615530 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function... |
OMIM:613280 |
| Spinocerebellar Ataxia 28 |
|
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red... |
OMIM:610246 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... |
OMIM:615285 |
| Oculopharyngodistal Myopathy |
|
Vocal cord paresis, Proximal muscle weakness in upper limbs, Difficulty walking, Paraplegia, Dist... |
ORPHA:98897 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Shuffling gait, Bradykinesia, Myoclonus, Rigidity, Substantia nigra gliosis, Babinski... |
ORPHA:171695 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Spasticity, Global brain atrophy, Decreased muscle mass, Bradykinesia, Neurodegene... |
OMIM:234200 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Spastic paraplegia, Spastic gait, Resting tremor, Abnormal upper mo... |
OMIM:601162 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Spastic paraparesis, Bradykinesia, Difficulty walking, Astrocytosis, Action tremor, Rigidity, Gai... |
ORPHA:309854 |
| Postencephalitic Parkinsonism |
|
Involuntary movements, Oculogyric crisis, Resting tremor, Akinesia, Paresthesia, Cogwheel rigidit... |
ORPHA:97349 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... |
OMIM:619042 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia... |
OMIM:146500 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity |
OMIM:618878 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Rabies |
|
Vocal cord paresis, Paresthesia, Cerebral palsy |
ORPHA:770 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Lower limb muscle weakness, Difficulty walking, Inability to walk, Myoclonus, Tre... |
ORPHA:2590 |
| Malaria |
|
Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:673 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Neurodegeneration, Dysmetria, Ankle c... |
OMIM:612319 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Upper limb hypertonia, Myoclonus, Progressive... |
ORPHA:254343 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... |
OMIM:615424 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Hand paresthesia, Vocal cord paralysis, Hand muscle weakness |
OMIM:162500 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Interosseus muscle atrophy... |
OMIM:500013 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Limb muscle weakness, Myopathy, Ataxia, Hypomimic face, Bradykinesia, Quadriceps ... |
ORPHA:254892 |
| Primary Progressive Freezing Gait |
|
Cerebral cortical atrophy, Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, R... |
ORPHA:75567 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Vocal cord paralysis |
ORPHA:640 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetrapare... |
OMIM:615491 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Involuntary movements, Increased variability in muscle fiber diameter, Tongue fasciculations, Ske... |
ORPHA:238329 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Spastic paraplegia, Paraparesis |
ORPHA:101005 |
| Poliomyelitis |
|
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... |
ORPHA:2912 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso... |
ORPHA:71275 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... |
OMIM:611067 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Severe short stature, Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spastic paraparesis... |
ORPHA:3208 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy |
OMIM:183020 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Clasp-knife sign, Spastic paraparesis, Hand tremor, Hand muscle weakness, Tibialis anterior muscl... |
ORPHA:101076 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... |
ORPHA:488650 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... |
OMIM:615889 |
| Manganese Poisoning |
|
Bradykinesia, Postural tremor, Akinesia, Cogwheel rigidity, Abnormality of extrapyramidal motor f... |
ORPHA:306682 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Ankle clonus, Babinski sign, Tet... |
ORPHA:506353 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Hypochromia, Poikilocy... |
OMIM:258900 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:618138 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Increased variability in muscle fiber diameter, Broad-based gait, Positive Romberg sign, Myopathy... |
OMIM:607459 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:613204 |
| Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Conjunctivitis, Intermittent thrombocytopenia |
OMIM:616740 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
| Oculopharyngodistal Myopathy 4 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... |
OMIM:619790 |
| Cerebrotendinous Xanthomatosis |
|
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Myelopathy, Parkinsonism, ... |
ORPHA:909 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... |
ORPHA:399058 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Spasticity, Myopathy, Gait disturbance, Ataxia |
OMIM:125250 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Supranuclear Palsy, Progressive, 2 |
|
Falls, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Akinesia, Rigidity, Parkinso... |
OMIM:609454 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... |
ORPHA:353 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Bradykinesia |
OMIM:619063 |
| Waisman Syndrome |
|
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... |
OMIM:311510 |
| Myopathy, Tubular Aggregate, 1 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... |
OMIM:160565 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Impaired pain sensation, Fascicul... |
OMIM:619574 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Congenital Myopathy 15 |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... |
OMIM:620161 |
| Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremo... |
OMIM:614298 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodeg... |
OMIM:203700 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Failure to thrive, Bradykinesia, Difficulty walking, Inability to walk, ... |
ORPHA:778 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Bradyk... |
ORPHA:199351 |
| Congenital Myopathy 20 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:620310 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... |
OMIM:620386 |
| Ane Syndrome |
|
Multiple joint contractures, Delayed puberty, Motor neuron atrophy, Short stature, Generalized am... |
ORPHA:157954 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... |
OMIM:603689 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Spastic paraparesis, Cerebral atrophy, Rigidity, Babinski sign, Head titu... |
OMIM:608804 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... |
OMIM:300717 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Absent pubertal growth spurt, Cerebellar atrophy, Neurodegeneration, Gait ataxia, Congenital diap... |
ORPHA:438134 |
| Congenital Myopathy 3 With Rigid Spine |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:602771 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... |
OMIM:612937 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Rigidity, Substantia nigra gliosis, Parkinsonism, Parkinsonism with favorable res... |
OMIM:607060 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:618129 |
| Oculopharyngodistal Myopathy 2 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:618940 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis, Increased intramyocellular lipid ... |
ORPHA:681 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Spastic paraparesis, Acroparesthesia, Upper limb muscle weakness, Difficulty walking, Hemiplegia,... |
ORPHA:206443 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Absent muscle fiber merosin, Inability to walk, Muscle fiber atrophy, Astrocy... |
ORPHA:258 |
| Myasthenic Syndrome, Congenital, 14 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:616228 |
| Bilateral Perisylvian Polymicrogyria |
|
Spasticity, Bilateral perisylvian polymicrogyria, Oromotor apraxia, Perisylvian predominant thick... |
ORPHA:98889 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Generalized dystonia, Spastic tetraparesis, Cerebral palsy, Spastic ataxia, Pa... |
OMIM:620358 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Short statu... |
OMIM:300580 |
| Myopathy, Sarcoplasmic Body |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620286 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Dysesthesia, Gait ataxia, Dysmetria, Rigid... |
ORPHA:93256 |
| Familial Cervical Artery Dissection |
|
Paralysis, Paresthesia, Facial palsy |
ORPHA:36382 |
| Developmental And Epileptic Encephalopathy 82 |
|
Spastic paraparesis, Cerebral atrophy, Inability to walk, Decreased body weight, Short stature, S... |
OMIM:618721 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... |
ORPHA:1878 |
| Arachnoid Cyst |
|
Lower limb muscle weakness, Tetraparesis, Inability to walk, Spinal arachnoid cyst, Paresthesia, ... |
ORPHA:2356 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Paresthesia, Distal sen... |
OMIM:263570 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Difficulty wal... |
OMIM:611890 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... |
OMIM:616050 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Ullrich Congenital Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
ORPHA:75840 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... |
OMIM:300718 |
| Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:301075 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... |
ORPHA:34516 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Pachygyria, Bradykinesia, Slowed slurred speech, Lissencephaly |
OMIM:619827 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... |
OMIM:300696 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
| Huntington Disease-Like 3 |
|
Cerebral cortical atrophy, Spasticity, Broad-based gait, Extrapyramidal muscular rigidity, Chorea... |
ORPHA:157946 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... |
OMIM:617228 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Myelopathy, Htlv-1-Associated |
|
Spastic paraparesis, Abnormal pyramidal sign, Myelopathy |
OMIM:159580 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
| Optic Atrophy 11 |
|
Increased variability in muscle fiber diameter, Facial diplegia, Dysmetria, Hyperkinetic movement... |
OMIM:617302 |
| Kufor-Rakeb Syndrome |
|
Blepharospasm, Cerebral cortical atrophy, Oculogyric crisis, Leg muscle stiffness, Difficulty wal... |
ORPHA:306674 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
| Primary Lateral Sclerosis |
|
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... |
ORPHA:35689 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Spastic paraparesis, Global brain atrophy, Failure to thrive, Appendicular spasticity, Abnormal p... |
OMIM:260600 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Skeletal muscle atrophy, Elbow flexion contracture, Cogwheel rigidity, Myocl... |
ORPHA:79139 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:117000 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Failure to thrive, Anisocytosis |
OMIM:604273 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... |
OMIM:616313 |
| Alexander Disease Type Ii |
|
Spasticity, Spastic paraparesis, Limb muscle weakness, Cervical spinal cord atrophy, Rigidity, Ba... |
ORPHA:363722 |
| Congenital Myopathy 8 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... |
OMIM:618654 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Thrombocytopenia 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... |
OMIM:605637 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase concentration |
OMIM:614727 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... |
OMIM:617675 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Developmental cataract, Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Spastic paraplegia, Failure to thrive in infancy,... |
OMIM:619026 |
| Myopathy, Myofibrillar, 3 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... |
OMIM:609200 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... |
OMIM:210250 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Choreoacanthocytosis |
|
Resting tremor, Muscle fiber atrophy, Limb dystonia, Myopathy, Loss of ambulation, Parkinsonism, ... |
ORPHA:2388 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocyt... |
OMIM:226990 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Bradykinesia, Ragged-red muscle fibers, Dystonia, Babinski sign, Spastic tetra... |
OMIM:614924 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Acute Transverse Myelitis |
|
Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Upper limb muscle weakness... |
ORPHA:139417 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Adult Krabbe Disease |
|
Spasticity, Broad-based gait, Acroparesthesia, Somatic sensory dysfunction, Lower limb muscle wea... |
ORPHA:206448 |
| Bethlem Myopathy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Scapular winging, Myopathy |
OMIM:616471 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Decreased muscle mass, Inability to walk, Knee flexion contracture, Axonal dege... |
OMIM:615490 |
| Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis |
OMIM:614198 |
| Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Paraparesis, Spinal arteriovenous malformation |
ORPHA:53721 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98863 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:618462 |
| Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... |
ORPHA:98853 |
| Gm2 Gangliosidosis, Ab Variant |
|
Cerebral atrophy, Neurodegeneration, Postnatal growth retardation, Chorea, Progressive spastic qu... |
ORPHA:309246 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... |
ORPHA:231226 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Distal amyotrophy, Skeletal muscle atrophy, Failure to thrive, Lower limb muscle weakness, Upper ... |
ORPHA:254930 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... |
OMIM:254090 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Farber Disease |
|
Spasticity, Skeletal muscle atrophy, Failure to thrive, Myoclonus, Paraparesis, Short stature, Fl... |
ORPHA:333 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, A... |
OMIM:221770 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Acute infantile spinal muscular atrophy, Flexion contracture, Degeneration... |
OMIM:271225 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Limb muscle weakness, Amyotrophic lateral sclerosis |
OMIM:619133 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Cerebellar atrophy, Cerebral atrophy, Limb dyston... |
OMIM:604377 |
| Myopathy, Distal, Tateyama Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... |
OMIM:614321 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253700 |
| Leishmaniasis |
|
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l... |
ORPHA:507 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Congenital Myopathy 14 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... |
OMIM:618414 |
| Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617066 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... |
OMIM:613011 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresth... |
ORPHA:682 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Increased variability in muscle fiber diameter, Atrophy/Degeneratio... |
ORPHA:70595 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Tongue fasciculations, Vocal cord paresis, Distal amyotrophy, Facial paralysis, Impaired pain sen... |
ORPHA:99949 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... |
ORPHA:98905 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Achilles ... |
OMIM:607225 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... |
ORPHA:2593 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Somatic sensor... |
ORPHA:502423 |
| Myopathy, Scapulohumeroperoneal |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... |
OMIM:616852 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia |
ORPHA:721 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Gaucher Disease, Type Iii |
|
Spastic paraparesis, Myoclonus, Decreased body weight, Ataxia, Short stature |
OMIM:231000 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... |
OMIM:618484 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Foix-Alajouanine Syndrome |
|
Cervical myelopathy, Myelitis, Myelopathy, Somatic sensory dysfunction, Lower limb muscle weaknes... |
ORPHA:79093 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosi... |
OMIM:618278 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Young-Onset Parkinson Disease |
|
Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Dystonia |
ORPHA:2828 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... |
OMIM:608807 |
| Snakebite Envenomation |
|
Pseudobulbar paralysis, Rhabdomyolysis, Respiratory paralysis, Paralysis, Muscle fiber necrosis |
ORPHA:449285 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:79312 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... |
ORPHA:466768 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Stuve-Wiedemann Syndrome 2 |
|
Neonatal death, Thrombocytopenia, Stillbirth |
OMIM:619751 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Splenomegaly, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Falls, Cerebellar atrophy, Progressive spastic paraplegia, Generalized dystonia, Progressive spas... |
ORPHA:329308 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Global brain atrophy, Amyotrophic lateral sclerosis |
OMIM:619132 |
| Congenital Myopathy 10B, Mild Variant |
|
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... |
OMIM:620249 |
| Amed Syndrome, Digenic |
|
Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:619151 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... |
OMIM:620235 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Isolated Agammaglobulinemia |
|
Failure to thrive, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality of neutr... |
ORPHA:229717 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
| Oculopharyngodistal Myopathy 1 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty wa... |
OMIM:164310 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... |
OMIM:617021 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:612999 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... |
OMIM:620265 |
| Coasy Protein-Associated Neurodegeneration |
|
Difficulty walking, Parkinsonism, Spastic paraparesis, Oromandibular dystonia |
ORPHA:397725 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Dist... |
OMIM:606071 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia |
OMIM:616435 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tip-toe gait, L... |
ORPHA:99956 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... |
ORPHA:101028 |
| Myopathy, Myofibrillar, 7 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... |
OMIM:617114 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:267700 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
ORPHA:486815 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Myopathy, Tremor, Fat... |
ORPHA:397744 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Anemia, Thrombocytopenia |
ORPHA:858 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Spastic paraparesis, Failure to thrive, Lower limb muscle weakness, Hemiparesis, Lethargy, Lower ... |
ORPHA:395 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
| Congenital Rubella Syndrome |
|
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopenia, Corneal opacity, Anemia |
ORPHA:290 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... |
ORPHA:79277 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Failure to thrive, Thrombocytopenia, B lymphocytopenia, E... |
OMIM:618048 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Prune1-Related Neurological Syndrome |
|
Tongue fasciculations, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Inability to wa... |
ORPHA:544469 |
| Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Difficulty walking, Brain atrophy, Mild postnatal growth retardation, As... |
ORPHA:90324 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:611705 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Leukopenia, Pancytopenia, Hyperuricemia, Hyponatremia, Increas... |
OMIM:613845 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia, Ocular albinism |
OMIM:614171 |
| Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy |
OMIM:611615 |
| Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... |
OMIM:620246 |
| Rhabdoid Tumor |
|
Anemia, Weight loss, Hypercalcemia, Thrombocytopenia |
ORPHA:69077 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis, Rhabdomyolysis |
OMIM:188580 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosis, Neuron... |
OMIM:256600 |
| Thyrotoxic Periodic Paralysis |
|
Periodic hypokalemic paresis, Lower limb muscle weakness, Obesity, Rhabdomyolysis, Tremor, Respir... |
ORPHA:79102 |
| Atelis Syndrome 1 |
|
Anemia, Cataract, Leukopenia, Thrombocytopenia |
OMIM:620184 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... |
ORPHA:848 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Ty... |
ORPHA:596 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Increased variability in muscle fiber diameter, Abnormal cortical gyration, Skeletal muscle atrop... |
OMIM:616867 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Periodic paralysis, Tremor |
OMIM:613239 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Ankle flexion contracture, Tongue fasciculations,... |
OMIM:619461 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Failure to thrive, Type 1 fibers relatively smaller t... |
OMIM:255310 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... |
ORPHA:86839 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... |
OMIM:255320 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617475 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:616744 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Thrombocytopenia, Hyperventilation, Small for... |
OMIM:618775 |
| Mevalonic Aciduria |
|
Cataract, Nuclear cataract, Failure to thrive, Fluctuating splenomegaly, Failure to thrive in inf... |
OMIM:610377 |
| Igg4-Related Pachymeningitis |
|
Somatic sensory dysfunction, Lower limb muscle weakness, Abnormal spinal dura mater morphology, P... |
ORPHA:449427 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Spastic paraparesis, Hand tremor, Decreased muscle mass, Flexion contracture of digit, Dysmetria,... |
ORPHA:3041 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Omenn Syndrome |
|
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia... |
OMIM:603554 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hypercalcemia, Thrombocytopenia |
ORPHA:2123 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Shor... |
OMIM:226670 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:613752 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Upper limb ... |
ORPHA:101000 |
| Cap Myopathy |
|
Increased variability in muscle fiber diameter, Tip-toe gait, Lower limb muscle weakness, Abnorma... |
ORPHA:171881 |
| Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Vocal cord paresis, Distal amyotrophy, Positive Romberg sign, Limb muscle weakness, Distal sensor... |
OMIM:601152 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:616812 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Neonatal death... |
OMIM:608104 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb ... |
ORPHA:320375 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia |
ORPHA:289916 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... |
OMIM:614857 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis, Myopathy |
OMIM:170400 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolyt... |
OMIM:304790 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue fasciculations, Skeletal muscle atrophy, Gait imbalance, Hand muscle atrophy, Ankle clonus... |
OMIM:211530 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Paraplegia, Paraparesis, Hemiparesis |
ORPHA:79124 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... |
OMIM:603909 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Distal sen... |
OMIM:151800 |
| Wilson Disease |
|
Failure to thrive, Kayser-Fleischer ring, Splenomegaly, Increased body weight, Weight loss, Throm... |
ORPHA:905 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis, Skeletal muscle atrophy, Limb muscle weakness |
OMIM:612300 |
| Gitelman Syndrome |
|
Failure to thrive, Paresthesia, Rhabdomyolysis, Paralysis, Delayed puberty, Ataxia, Growth delay |
OMIM:263800 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Hypocalcemia, Weight loss, Neutropenia, Thrombocytopenia, Anemia, Conjunctivit... |
ORPHA:47 |
| Myh9-Related Disease |
|
Giant platelets, Presenile cataracts, Congenital thrombocytopenia, Neutrophil inclusion bodies, I... |
ORPHA:182050 |
| Sengers Syndrome |
|
Cataract, Developmental cataract, Thrombocytopenia |
OMIM:212350 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... |
ORPHA:231111 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:603553 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia, Anemia |
ORPHA:90060 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Aggressive Systemic Mastocytosis |
|
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... |
ORPHA:98850 |
| Oculodentodigital Dysplasia |
|
Spasticity, Tetraparesis, Joint contracture of the 5th finger, Paraparesis, Ataxia |
OMIM:164200 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:617072 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocyto... |
OMIM:619644 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Failure to thrive, Thrombocytopenia |
OMIM:619693 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:158061 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
| Babesiosis |
|
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
ORPHA:108 |
| Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... |
OMIM:105210 |
| Pelger-Huet Anomaly |
|
Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocy... |
OMIM:169400 |
| Glioblastoma |
|
Paralysis, Glioblastoma multiforme |
ORPHA:360 |
| Holocarboxylase Synthetase Deficiency |
|
Keratoconjunctivitis, Weight loss, Hyperammonemia, Thrombocytopenia |
ORPHA:79242 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Tularemia |
|
Brain abscess, Cutaneous abscess, Leukocytosis, Conjunctival hyperemia, Thrombocytopenia, Anemia,... |
ORPHA:3392 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co... |
ORPHA:3226 |
| Propionic Acidemia |
|
Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, ... |
OMIM:606054 |
| Stt3B-Cdg |
|
Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
| Congenital Myopathy 22A, Classic |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620351 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, C... |
ORPHA:119 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:610333 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... |
OMIM:613157 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglyc... |
OMIM:251110 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Cereb... |
ORPHA:17 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... |
OMIM:614302 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level... |
OMIM:301110 |
| Typical Nemaline Myopathy |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... |
ORPHA:171436 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
ORPHA:331206 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Thrombocytopenia |
OMIM:615597 |
| Pseudohypoaldosteronism Type 2 |
|
Short stature, Periodic paralysis, Growth delay |
ORPHA:757 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Myoclonus, Left v... |
OMIM:618321 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
| Alg8-Cdg |
|
Cataract, Failure to thrive, Hyponatremia, Thrombocytopenia, Anemia, Small for gestational age |
ORPHA:79325 |
| Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis |
OMIM:602080 |
| Lig4 Syndrome |
|
Failure to thrive, Pancytopenia, Astigmatism, Thrombocytopenia, Acute lymphoblastic leukemia, Sma... |
OMIM:606593 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... |
OMIM:617443 |
| Cog4-Cdg |
|
Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbirth |
ORPHA:85212 |
| Neurofibromatosis, Familial Spinal |
|
Paraparesis, Lower limb muscle weakness |
OMIM:162210 |
| Tick-Borne Encephalitis |
|
Tongue fasciculations, Myelitis, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordina... |
ORPHA:297 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... |
OMIM:620138 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Large for gestational age, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614520 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
| Waardenburg Syndrome, Type 4A |
|
Spastic paraparesis, Ataxia |
OMIM:277580 |
| Cholesteryl Ester Storage Disease |
|
Failure to thrive, Decreased HDL cholesterol concentration, Leukopenia, Hepatosplenomegaly, Hyper... |
OMIM:278000 |
| Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:230800 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy... |
OMIM:277380 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis |
OMIM:611490 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration |
ORPHA:210136 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Arthrogryposis-like hand anomaly, Spastic paraparesis, Incoordination, Camptodactyly, Ataxia, Sho... |
ORPHA:369891 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Hereditary Folate Malabsorption |
|
Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Spastic paraparesis, Hand apraxia, Difficulty walking, Inability to walk, Babinski sign, Lower li... |
ORPHA:280229 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Absent pubertal growth spurt, Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic her... |
OMIM:615919 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Small for gestational age, Thrombocytopenia, Incre... |
ORPHA:275555 |
| Sjogren-Larsson Syndrome |
|
Short stature, Flexion contracture, Spastic paraparesis, Spasticity |
OMIM:270200 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Rift Valley Fever |
|
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis |
ORPHA:319251 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Leukopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, Me... |
OMIM:251000 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphopenia, Hyperlipidemia, Decreas... |
ORPHA:1830 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Spasticity, Myoclonus, Type 1 muscle fiber predom... |
OMIM:612949 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
| Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... |
ORPHA:101096 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia |
OMIM:152700 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level |
OMIM:218030 |
| Schimke Immunoosseous Dysplasia |
|
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Astigmatism, Neutropenia, Thrombocytopenia... |
OMIM:242900 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Failure to thrive, Splenomegaly, Thrombocytopenia, Opacification of the corneal stroma |
OMIM:251290 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Con... |
OMIM:617591 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thromb... |
ORPHA:381 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... |
OMIM:185070 |
| Non-Functioning Paraganglioma |
|
Weight loss, Vocal cord paralysis, Tremor |
ORPHA:94080 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis |
ORPHA:83601 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... |
ORPHA:100026 |
| Adrenomyeloneuropathy |
|
Spasticity, Leg muscle stiffness, Progressive spastic paraparesis, Distal sensory impairment, Axo... |
ORPHA:139399 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Thrombocytopenia, Neutropenia, ... |
OMIM:251100 |
| Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis, Paresthesia |
OMIM:176000 |
| Transaldolase Deficiency |
|
Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Smal... |
OMIM:606003 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Difficulty walking, Rhab... |
OMIM:255125 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Astigmatism, Elevated circulating creatine kinase concentration, Thrombocytopenia, Co... |
OMIM:301056 |
| Arnold-Chiari Malformation Type I |
|
Myelopathy, Somatic sensory dysfunction, Gait ataxia, Syringomyelia, Babinski sign, Abnormality o... |
ORPHA:268882 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... |
ORPHA:158048 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Abnormal skeletal muscle morphology |
ORPHA:142 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Hermansky-Pudlak Syndrome 5 |
|
Ocular albinism, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Throm... |
OMIM:614074 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Hyperammonemia, Neutro... |
ORPHA:292 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Pearson Marrow-Pancreas Syndrome |
|
Failure to thrive, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Punctate keratitis, Re... |
OMIM:557000 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Hemiplegia, Rigidity, Hemiparesis, Paral... |
ORPHA:2396 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration |
OMIM:618886 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Spastic paraparesis, Intrauterine growth retardation, Proportionate short statu... |
ORPHA:391408 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, EMG: myopathic abnormalities, Facial muscle hypertrophy |
ORPHA:684 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Inability to walk, Athetoid cerebral palsy, Hyperkinetic movements, Lower lim... |
OMIM:617799 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Avian Influenza |
|
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... |
ORPHA:454836 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia |
ORPHA:398124 |
| Foodborne Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:228371 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hypersplenism, Leukopenia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, A... |
ORPHA:64743 |
| Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Prolidase Deficiency |
|
Anemia, Splenomegaly, Failure to thrive, Thrombocytopenia |
OMIM:170100 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Decreased proportion ... |
OMIM:614700 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia |
OMIM:259700 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Cataract |
OMIM:222300 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Pancytopenia, Splenomegaly, Elevated circulating creatine kinase concentration... |
OMIM:614576 |
| Zika Virus Disease |
|
Lens subluxation, Conjunctivitis, Iris coloboma, Thrombocytopenia |
ORPHA:448237 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Arthrogryposis multipl... |
OMIM:619334 |
| Felty Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:47612 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Spasticity, Myoclonus, Vocal cord paralysis, Dystonia |
ORPHA:500144 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Immunodeficiency 22 |
|
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia... |
OMIM:615758 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentra... |
ORPHA:457077 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thrombocytopenia, Anemia, Hyperkale... |
OMIM:617053 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia |
ORPHA:294 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, Hypertonia, Ataxia |
ORPHA:760 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration |
ORPHA:3240 |
| African Trypanosomiasis |
|
Involuntary movements, Myelitis, Myelopathy, Somatic sensory dysfunction, Fasciculations, Abnorma... |
ORPHA:3385 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Arthrogryposis multiplex congenita, Hypoplasia of the mus... |
OMIM:253310 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Failure to thrive, Increased mean corpuscular volume, Persistence of hemoglobin ... |
OMIM:617052 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Stillbirth, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytos... |
OMIM:259720 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:540 |
| Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia... |
OMIM:260400 |
| Lathosterolosis |
|
Cataract, Microcornea, Failure to thrive, Abnormal platelet morphology, Thrombocytopenia, Anisopo... |
ORPHA:46059 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Elevated circulating CCL18 level, Increased circulating ferritin concentratio... |
ORPHA:77259 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus, Tremor |
OMIM:619424 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Failure to thrive, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:3322 |
| Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, ... |
OMIM:214500 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... |
OMIM:616866 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
| Epidermal Nevus Syndrome |
|
Progressive spastic paraparesis, Babinski sign, Atrophy of the spinal cord, Spinal cord compressi... |
ORPHA:35125 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac... |
OMIM:601399 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... |
OMIM:301078 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis, Growth delay |
OMIM:242100 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Spasticity, Distal amyotrophy, Growth delay, Spastic paraparesis, Cerebral atrophy, Myoclonus, Di... |
OMIM:609136 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia |
OMIM:259710 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract |
ORPHA:454831 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Failure to thrive in infancy, Abnormal blood ion concentration... |
ORPHA:810 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Decreased body weight, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... |
OMIM:620278 |
| Alport Syndrome 1, X-Linked |
|
Anterior lenticonus, Lenticonus, Developmental cataract, Thrombocytopenia, Corneal erosion |
OMIM:301050 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Failure to thrive, Leukopenia, Pancytopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperventilation, Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocyto... |
ORPHA:508542 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Andersen-Tawil Syndrome |
|
Growth delay, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Short stature, Perio... |
ORPHA:37553 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:600901 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spastic paraplegia, Broad-based gait, Limb ataxia, Paralysis, Cachexia, Oculomotor apraxia, Delay... |
ORPHA:2072 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Failure to thrive, Increased mean corpuscular... |
ORPHA:811 |
| Pediatric-Onset Graves Disease |
|
Keratitis, Failure to thrive, Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neu... |
ORPHA:525731 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc... |
ORPHA:79083 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia, Small for gestational age |
ORPHA:391673 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Increased circulati... |
OMIM:222700 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
| Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia, Conjugated hyperbilirubinemia, Small for gestational age, Failure to thrive |
OMIM:208085 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy |
ORPHA:2348 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Vexas Syndrome |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Enlarged platelet dense granules, Ocular albinism, Hepatosplen... |
OMIM:608233 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Thrombocytopenia, Hypoplasia of the iris |
ORPHA:169090 |
| Castleman Disease |
|
Weight loss, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Anemia, Dec... |
ORPHA:160 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Failure to thrive, Lymphocytosis, Thrombocytopenia, Elevated circ... |
OMIM:617718 |
| Glossopharyngeal Neuralgia |
|
Weight loss, Dysesthesia, Vocal cord paralysis |
ORPHA:221098 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:227650 |
| Aicardi-Goutières Syndrome |
|
Spasticity, Spastic paraparesis, Degeneration of the striatum, Extrapyramidal muscular rigidity, ... |
ORPHA:51 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Smith-Kingsmore Syndrome |
|
Large for gestational age, Thrombocytopenia |
OMIM:616638 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Cataract, Lymphopenia, Obesity, Pancytopenia, Leukopenia, Astigmatism, Thrombocytopenia, Anemia, ... |
OMIM:620654 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasi... |
OMIM:612541 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural k... |
ORPHA:167 |
| Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated ... |
OMIM:251880 |
| Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Neuroblastoma |
|
Anemia, Weight loss, Thrombocytopenia, Increased circulating ferritin concentration |
ORPHA:635 |
| Native American Myopathy |
|
Congenital contracture, Skeletal muscle atrophy, Inability to walk, Muscle fiber atrophy, Camptod... |
ORPHA:168572 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Agitation |
ORPHA:100924 |
| Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
| Adams-Oliver Syndrome |
|
Cataract, Leukopenia, Failure to thrive, Thrombocytopenia |
ORPHA:974 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short stature, Periodic paralysis, Periodic hypokalemic paresis, Scapular winging |
OMIM:170390 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
| Von Willebrand Disease |
|
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:903 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Leukopenia, Zonular cataract, Thrombocytopenia, Neutropenia |
OMIM:616271 |
| Biotinidase Deficiency |
|
Spastic paraparesis, Myelopathy, Limb muscle weakness, Lethargy, Ataxia |
ORPHA:79241 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
OMIM:613327 |
| Overlap Myositis |
|
Abnormal circulating lipid concentration, Leukopenia, Thrombocytopenia, Elevated circulating crea... |
ORPHA:206572 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis |
OMIM:619338 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:615595 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617303 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Corneal opacity, Thrombocytopenia, Hypertriglyceridemia,... |
ORPHA:31150 |
| Noonan Syndrome 4 |
|
Large for gestational age, Blue irides, Thrombocytopenia |
OMIM:610733 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Failure to thrive in infancy, Anemia, Giant platelets, Thrombocytopenia |
OMIM:611209 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Splenomegaly, Thrombocytopenia, Neutropenia, Hemolytic anemia |
OMIM:308230 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... |
ORPHA:90038 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
| Stevens-Johnson Syndrome |
|
Weight loss, Thrombocytopenia, Anemia, Conjunctivitis, Abnormality of neutrophils, Corneal erosion |
ORPHA:36426 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Decreased body weight, Neonatal death, Thrombocytopenia, Anemia |
OMIM:608013 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Intrauterine growth retardation, Macroglossia, To... |
OMIM:617022 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:227645 |
| Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Elevated hepatic iron concentration, Thrombocytopenia |
OMIM:614946 |
| Toxic Epidermal Necrolysis |
|
Weight loss, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Corneal erosion |
ORPHA:537 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:613990 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, Lymphopenia, Chroni... |
ORPHA:906 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Vocal cord paralysis, Tremor |
ORPHA:276621 |
| Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Aspiration, Failure to thrive |
OMIM:610768 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormality of bo... |
ORPHA:2298 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Conjunctival icterus, Pancytopenia, Leukopenia, Erythro... |
ORPHA:447 |
| Gitelman Syndrome |
|
Failure to thrive, Paresthesia, Rhabdomyolysis, Paralysis, Delayed puberty |
ORPHA:358 |
| Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Increased circulati... |
ORPHA:470 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... |
OMIM:105650 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Failure to thrive, Neutropenia |
OMIM:617941 |
| Argininemia |
|
Spastic paraparesis, Cerebellar atrophy, Postnatal growth retardation, Progressive spastic quadri... |
OMIM:207800 |
| Hellp Syndrome |
|
Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocytopenia, Dec... |
ORPHA:244242 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninemia, Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia... |
OMIM:277400 |
| Fanconi Anemia, Complementation Group F |
|
Anemia, Leukopenia, Failure to thrive, Thrombocytopenia |
OMIM:603467 |
| Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
| Diamond-Blackfan Anemia 21 |
|
Erythroid hypoplasia, Obesity, Anemia, Thrombocytopenia |
OMIM:620072 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Astigmatism, Thrombocytopenia |
ORPHA:261250 |
| Recon Progeroid Syndrome |
|
Anemia, Keratoconjunctivitis sicca, Thrombocytopenia |
OMIM:620370 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:93552 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... |
ORPHA:94093 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Failure to thrive, Leukopenia, Splenomegaly, Hypercholestero... |
OMIM:300972 |
| Gaucher Disease, Type Ii |
|
Anemia, Splenomegaly, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Abscess, Hypocalcemia, Elevated c... |
ORPHA:36234 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pterygium, Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Distal Renal Tubular Acidosis |
|
Short stature, Paralysis, Growth delay, Failure to thrive |
ORPHA:18 |
| Porphyria, Congenital Erythropoietic |
|
Elevated circulating uroporphyrin concentration, Corneal scarring, Splenomegaly, Thrombocytopenia... |
OMIM:263700 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Pearson Syndrome |
|
Cataract, Hypomagnesemia, Pancytopenia, Reticulocytosis, Splenomegaly, Hypocalcemia, Hypokalemia,... |
ORPHA:699 |
| Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune he... |
OMIM:619573 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Failure to thrive, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Elevat... |
OMIM:620376 |
| Halperin-Birk Syndrome |
|
Aspiration, Failure to thrive, Developmental cataract |
OMIM:618651 |
| Down Syndrome |
|
Keratoconus, Cataract, Polycythemia, Obesity, Acute megakaryocytic leukemia, Thrombocytopenia, Ne... |
ORPHA:870 |
| Ebola Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Thrombocytopenia |
ORPHA:319218 |
| Lethal Congenital Contracture Syndrome 9 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... |
OMIM:616503 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Type ... |
OMIM:613150 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:320 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Glycogen Storage Disease Vii |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content |
OMIM:232800 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Congenital Syphilis |
|
Cataract, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Anemia |
ORPHA:499009 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Agyria, Polymicrogyria |
OMIM:616538 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
| Good Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:169105 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Anemia, Thrombocytopenia |
ORPHA:261323 |
| Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Bcard Syndrome |
|
Cataract, Thrombocytopenia |
OMIM:612394 |
| Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia |
OMIM:617397 |
| Alg12-Cdg |
|
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B lympho... |
ORPHA:79324 |
| Brucellosis |
|
Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Weight loss,... |
ORPHA:1304 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Spasticity, Central nervous system degeneration, Loss of ambulation, Abnormal... |
ORPHA:581 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Vocal cord paralysis, Tremor |
ORPHA:29072 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Pontine Tegmental Cap Dysplasia |
|
Aspiration, Failure to thrive |
OMIM:614688 |
| Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Wilson Disease |
|
Hypouricemia, Sunflower cataract, Hypoalbuminemia, Kayser-Fleischer ring, Hyperbilirubinemia, Spl... |
OMIM:277900 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Hypoventilation, Thrombocytopenia |
ORPHA:79330 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hyperammonemia, Hypom... |
ORPHA:79282 |
| Lujo Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein ... |
ORPHA:319213 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Spastic paraparesis, Bilateral camptodactyly, Delayed puberty, Short stature, Growth delay |
OMIM:619234 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... |
OMIM:227646 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
| Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level |
OMIM:103900 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Leukopenia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase c... |
ORPHA:2785 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Thrombocytopenia |
OMIM:225750 |
| Laryngotracheoesophageal Cleft |
|
Aspiration |
ORPHA:2004 |
| Caroli Syndrome |
|
Conjunctival icterus, Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Thrombocytopen... |
ORPHA:480520 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
| Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Weight loss, Thrombocyt... |
OMIM:615846 |
| Q Fever |
|
Granuloma, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anemia |
ORPHA:781 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration, Failure to thrive |
OMIM:618922 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight |
OMIM:619005 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Conjunctivitis |
ORPHA:505248 |
| Neuromuscular Oculoauditory Syndrome |
|
Aspiration, Elevated circulating creatine kinase concentration |
OMIM:618733 |
| Atelis Syndrome 2 |
|
Anemia, Developmental cataract, Thrombocytopenia |
OMIM:620185 |
| Jacobsen Syndrome |
|
Microcornea, Iris coloboma, Failure to thrive, Thrombocytopenia |
OMIM:147791 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Oculodentodigital Dysplasia |
|
Spasticity, Spastic paraparesis, Camptodactyly of finger, Gait disturbance, Ataxia |
ORPHA:2710 |
| Eales Disease |
|
Spastic paraparesis, Myelopathy |
ORPHA:40923 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia |
ORPHA:464329 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
| Idiopathic Hypereosinophilic Syndrome |
|
Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ... |
ORPHA:3260 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Splenomegaly, Lymphocytosis, Weight loss, Elevated circulating C-reactive protein con... |
ORPHA:50918 |
| Hyperekplexia 1 |
|
Aspiration |
OMIM:149400 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Vocal cord paralysis |
OMIM:605373 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... |
ORPHA:99826 |
| Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
| Hurler Syndrome |
|
Spastic paraparesis, Cerebral palsy, Camptodactyly of finger, Abnormal pyramidal sign, Short stat... |
ORPHA:93473 |
| Developmental And Epileptic Encephalopathy 38 |
|
Aspiration |
OMIM:617020 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Cataract, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia |
OMIM:620005 |
| Glycogen Storage Disease Xii |
|
Increased variability in muscle fiber diameter, Myopathy, Delayed puberty, Short stature, Muscle ... |
OMIM:611881 |
| Say-Barber-Miller Syndrome |
|
Spastic paraparesis, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, Babinski ... |
ORPHA:3132 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Cataract, Failure to thrive, Abnormal pupil morphology, Hyponatremia, Hypokalemia, H... |
ORPHA:534 |
| Scheie Syndrome |
|
Spastic paraparesis, Cerebral palsy |
ORPHA:93474 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism |
OMIM:617660 |
| Dubowitz Syndrome |
|
Cataract, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia |
ORPHA:235 |
| Tyrosinemia, Type I |
|
Periodic paralysis, Growth delay, Failure to thrive |
OMIM:276700 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vocal cord paralysis |
OMIM:168000 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
| Adnp Syndrome |
|
Iris coloboma, Astigmatism, Juvenile cataract, Truncal obesity, Aspiration |
ORPHA:404448 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Decreased body we... |
ORPHA:340 |
| Dyskeratosis Congenita |
|
Cataract, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:1775 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Gaucher Disease |
|
Splenic infarction, Decreased HDL cholesterol concentration, Increased circulating ferritin conce... |
ORPHA:355 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Conjunctival telangiectasia, Thrombocytopenia, B lymphocytopenia, T ... |
OMIM:251260 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Aspiration, Failure to thrive |
ORPHA:2131 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Fibular Hemimelia |
|
Abnormal anterior chamber morphology, Thrombocytopenia |
ORPHA:93323 |
| Van Esch-O'Driscoll Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Unilateral vocal cord paralysis, Intrauterine g... |
OMIM:301030 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Corneal scarring, Aspiration |
OMIM:614653 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hemolytic anemia |
ORPHA:647 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Aspiration, Small for gestational age, Failure to thrive |
ORPHA:96182 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Failure to thrive, Decreased HDL cholesterol concentration, Microcytic anemia, Punctate opacifica... |
OMIM:256040 |
| Fanconi Anemia |
|
Cataract, Leukopenia, Astigmatism, Aplasia/Hypoplasia of the iris, Weight loss, Thrombocytopenia,... |
ORPHA:84 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Corneal perforation, Lymphopenia, Leukopenia, Decreased proportion of CD4-posi... |
ORPHA:289390 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p... |
ORPHA:391487 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hyperglycinemia, Thrombocytopenia |
OMIM:620423 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Corneal opacity, Anemia |
OMIM:274000 |
| Dyskeratosis Congenita, X-Linked |
|
Cataract, Pterygium, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, ... |
OMIM:305000 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
| Tsh-Secreting Pituitary Adenoma |
|
Weight loss, Delayed puberty, Periodic hypokalemic paresis, Tremor |
ORPHA:91347 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Emotional lability |
OMIM:219090 |
| Pineoblastoma |
|
Paralysis, Lethargy |
ORPHA:251909 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight |
OMIM:619004 |
| Cornelia De Lange Syndrome 1 |
|
Microcornea, Astigmatism, Thrombocytopenia |
OMIM:122470 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Thrombocytopenia |
OMIM:612199 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Short stature, Periodic hypokalemic paresis |
OMIM:259730 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
| Schinzel-Giedion Syndrome |
|
Cerebral cortical atrophy, Spasticity, Failure to thrive in infancy, Ependymoma, Vocal cord paral... |
ORPHA:798 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolyti... |
ORPHA:544482 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia |
ORPHA:163979 |
| Gaucher Disease Type 3 |
|
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia |
ORPHA:77261 |
| Sarcoidosis |
|
Cataract, Leukopenia, Hypercalcemia, Increased T cell count, Eosinophilia, Weight loss, Keratocon... |
ORPHA:797 |
| 22Q11.2 Deletion Syndrome |
|
Cataract, Abnormality of thrombocytes, Failure to thrive, Obesity, Splenomegaly, Corneal neovascu... |
ORPHA:567 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly, Truncal obesity |
OMIM:301072 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
| Ogden Syndrome |
|
Polycythemia, Hyperbilirubinemia, Iron deficiency anemia, Thrombocytopenia, Aspiration |
OMIM:300855 |
| Liver Disease, Severe Congenital |
|
Failure to thrive, Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, ... |
OMIM:619991 |
| Jacobsen Syndrome |
|
Cataract, Microcornea, Iris coloboma, Thrombocytopenia |
ORPHA:2308 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:90793 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Failure to thrive, Laryngeal dystonia, Intrauterine growth retardation, Abnormality of coordinati... |
OMIM:616462 |
| Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Hypersplenism,... |
ORPHA:77293 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Weight loss, Hemolytic anemia, Thrombocytopenia |
ORPHA:536 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Unilateral vocal cord paralysis, Intrauterine growth retardation, Joint contracture of the 5th fi... |
ORPHA:324540 |
| Esophageal Atresia |
|
Failure to thrive in infancy, Aspiration, Small for gestational age |
ORPHA:1199 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Hypersplenism, Splenomegaly, Hypoventilation, Increased serum bile acid conce... |
ORPHA:731 |
| Opitz Gbbb Syndrome |
|
Aspiration |
OMIM:300000 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Microcytic anemia, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:619525 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concen... |
ORPHA:99827 |
| Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... |
ORPHA:99829 |
| Digeorge Syndrome |
|
Obesity, Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Posterior embryotoxon, Sclerocorne... |
OMIM:188400 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
| Developmental And Epileptic Encephalopathy 100 |
|
Aspiration |
OMIM:619777 |
| Degcags Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Vocal cord paralysis, Small for gestational a... |
OMIM:619488 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss, Keratoconjunctivitis sicca, Thrombocytopenia |
ORPHA:79078 |
| Hardikar Syndrome |
|
Failure to thrive, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Splenomegaly, Thrombocy... |
OMIM:301068 |
| Roberts Syndrome |
|
Cataract, Thrombocytopenia |
ORPHA:3103 |
| Igg4-Related Thyroid Disease |
|
Vocal cord paralysis |
ORPHA:64744 |
| Acute Liver Failure |
|
Hyperventilation, Hyperammonemia, Thrombocytopenia |
ORPHA:90062 |
| Osteogenesis Imperfecta |
|
Small for gestational age, Thrombocytopenia, Corneal opacity |
ORPHA:666 |
| Codas Syndrome |
|
Short stature, Vocal cord paresis |
OMIM:600373 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Failure to thrive, Hypomagnesemia, Hepatosplenomegaly, Hypocalcemia, Aspiration, Hemolytic anemia |
OMIM:619503 |
| Microphthalmia, Syndromic 2 |
|
Spastic paraparesis, Contracture of the proximal interphalangeal joint of the 2nd toe, Decreased ... |
OMIM:300166 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Cataract, Failure to thrive, Corneal scarring, Obesity, Aspiration |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Cataract, Failure to thrive, Corneal scarring, Obesity, Aspiration |
ORPHA:353277 |
| Williams-Beuren Syndrome |
|
Poor coordination, Failure to thrive in infancy, Incoordination, Intrauterine growth retardation,... |
OMIM:194050 |
| Leptospirosis |
|
Conjunctival hyperemia, Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
| Feingold Syndrome 1 |
|
Vocal cord paralysis |
OMIM:164280 |
| Noonan Syndrome 1 |
|
Failure to thrive in infancy, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia |
OMIM:163950 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Small for gestational age, Decreased circulating renin level |
OMIM:201750 |
