| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
| Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta... |
ORPHA:454887 |
| Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Apraxia, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Broad-base... |
OMIM:607136 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Dysphagia, Athetosis, Gliosis, Dystonia |
OMIM:300857 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Degeneration of the striatum, Gait di... |
OMIM:609161 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Apraxia, Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykines... |
OMIM:221820 |
| Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... |
OMIM:300894 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Parkinsonism, Action tremor, Unsteady gait, Abnormal... |
ORPHA:98762 |
| Dystonia 30 |
|
Diffuse cerebral atrophy, Torticollis, Writer's cramp, Impulsivity, Aggressive behavior, Leg dyst... |
OMIM:619291 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
| Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait dist... |
OMIM:615643 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykines... |
ORPHA:71517 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... |
OMIM:254110 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... |
OMIM:604286 |
| Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Distal sensor... |
OMIM:604484 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
| Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Dystonia, Tremor, Unsteady gait, Abnormal p... |
OMIM:617435 |
| Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Br... |
ORPHA:210571 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal py... |
OMIM:613135 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Aggressiv... |
OMIM:617225 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Growth delay, Brady... |
ORPHA:100984 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici... |
OMIM:606159 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysphagia, D... |
OMIM:618317 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk... |
ORPHA:101150 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Dimi... |
ORPHA:240103 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... |
ORPHA:306692 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Short stature, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sig... |
OMIM:619052 |
| Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy, Gait ataxia |
OMIM:253590 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Hand tremor, Gait ataxia, Limb ataxia,... |
ORPHA:98764 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Ankle flexion contracture, Limb-girdle muscle weakness, ... |
OMIM:613818 |
| Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Impulsivity, Aggressive behavior, Parkinsonism, Akin... |
OMIM:607454 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... |
OMIM:254130 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Dysphagia, Gait at... |
OMIM:619862 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Cerebellar vermis ... |
ORPHA:248111 |
| Primary Dystonia, Dyt17 Type |
|
Torticollis, Generalized dystonia, Parkinsonism, Cerebral cortical atrophy, Craniofacial dystonia |
ORPHA:370103 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... |
ORPHA:412066 |
| Huntington Disease |
|
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Add... |
ORPHA:399 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp... |
OMIM:618369 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Dysphagia, Progressive cerebellar ataxia, Dystonia, Craniofacial... |
OMIM:611694 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... |
OMIM:205100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hyper... |
OMIM:617384 |
| L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... |
OMIM:236792 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia |
OMIM:128235 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ele... |
OMIM:613954 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
| Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi... |
ORPHA:309169 |
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal tracts, Degeneration of ... |
OMIM:105400 |
| Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Cerebral cortic... |
ORPHA:306669 |
| Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... |
ORPHA:329466 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Blepharospa... |
ORPHA:240094 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa... |
OMIM:615157 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Infantile Dystonia-Parkinsonism |
|
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign... |
ORPHA:238455 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Dysphagia, Gait ataxia, Limb d... |
OMIM:128101 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Fascicu... |
OMIM:608030 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Hypokinesia, Rigidity, Dysphagia, Bradykinesia, Gliosis, Myoclonus,... |
OMIM:168601 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Dysphagia |
ORPHA:228169 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystr... |
OMIM:603511 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, Inappropriate behavior,... |
OMIM:600795 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... |
OMIM:253601 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Bulbar palsy, Distal muscle weakness, Weakness due to upper motor neuron dysfunction, Parkinsonis... |
ORPHA:275872 |
| Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Lower limb spasticity, Amyotrophic lateral sclerosis |
OMIM:614373 |
| Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum |
|
Short stature, Babinski sign, Cogwheel rigidity, Growth delay, Hypertonia, Attention deficit hype... |
OMIM:618284 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Dystonia, Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthoto... |
ORPHA:13 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Achilles tendon contracture, Tip-... |
ORPHA:62 |
| Manganese Poisoning |
|
Postural tremor, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bradykinesia, ... |
ORPHA:306682 |
| Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Waddling gait, Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle ... |
ORPHA:34515 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... |
ORPHA:157941 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... |
OMIM:618418 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Tetraparesis, Dysphagia, Spa... |
OMIM:617892 |
| Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Babinski sign, Impaired vibration sensation in t... |
ORPHA:99013 |
| Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Hypotonia, Cerebral atrophy, Cogwheel rigidity, Choreoathet... |
OMIM:616981 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular dystrophy, Difficulty wa... |
OMIM:601287 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Akinesia, Rigidity, Bradykinesia, Agitation,... |
ORPHA:411602 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni... |
OMIM:618824 |
| Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Hypotonia, Tetraplegia, Gliosis, Generalized hypotonia, Spasticity, Neuronal loss in cent... |
OMIM:614959 |
| Machado-Joseph Disease |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Parkinsonism, Facial-lingual fasciculat... |
OMIM:109150 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repe... |
OMIM:612069 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Dysphagia |
OMIM:614808 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Short stature, Hypotonia, Dysphagia, Hand tremor, Gait atax... |
OMIM:617862 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Dysphagia, Loss of ambulation |
OMIM:613435 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Degeneration of anterior horn cells, ... |
OMIM:159950 |
| Dystonia 32 |
|
Torticollis, Dysphagia, Brain atrophy, Limb dystonia, Laryngeal dystonia |
OMIM:619637 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... |
ORPHA:95434 |
| Myopathy, Distal, 3 |
|
Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Joint contrac... |
OMIM:610099 |
| Striatonigral Degeneration, Childhood-Onset |
|
Elevated circulating creatine kinase concentration, Unsteady gait, Hypotonia, Dysphagia, Ankle cl... |
OMIM:617054 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... |
OMIM:606777 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Cerebral atrop... |
ORPHA:329284 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Fasciculati... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Fasciculati... |
OMIM:616437 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Gliosis, Myoclonus, Abnormality of extrapyramidal mo... |
OMIM:604218 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclonus, Limb my... |
ORPHA:36899 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypotonia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fascicul... |
OMIM:607596 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Loss of ... |
OMIM:616516 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal muscle weakness, Paralysis, Distal sensory impairment, Difficulty walking, Lethargy, Muscl... |
OMIM:613710 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis... |
OMIM:615924 |
| Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... |
OMIM:609454 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... |
OMIM:168605 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Clonus, P... |
ORPHA:300605 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... |
ORPHA:401901 |
| Spinocerebellar Ataxia 2 |
|
Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Spinocerebe... |
OMIM:183090 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
| Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favora... |
OMIM:616710 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
| Dystonia 33 |
|
Axial dystonia, Limb dystonia, Axial hypotonia, Babinski sign, Dystonia, Spasticity |
OMIM:619687 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Involuntary movements, Akinesia, Rigidity, Diminished movement... |
ORPHA:97349 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
| Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Gliosis, Myoclonu... |
ORPHA:204 |
| Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Gliosis, Fal... |
ORPHA:683 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramid... |
OMIM:607317 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Progressive external ophthalmoplegia, Decreased mitochondrial number, Limb-girdle muscle weakness... |
ORPHA:352470 |
| Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Chorea, Slurred speech, Impaired proprioception, D... |
ORPHA:98755 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypertonia, Cerebral atrophy |
OMIM:614023 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... |
ORPHA:71277 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Dysphagi... |
OMIM:608627 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Cogwheel ... |
ORPHA:225154 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Dystonia, Severe muscular hypotonia, Oculogyric crisis, Inability to walk, Ch... |
OMIM:614254 |
| Spinal Muscular Atrophy, Type Iii |
|
Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Los... |
OMIM:253400 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia |
OMIM:619681 |
| Huntington Disease-Like 2 |
|
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Gait disturbance, Dystonia, Cerebra... |
ORPHA:98934 |
| Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, P... |
ORPHA:157846 |
| Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... |
OMIM:158901 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Impulsivity, Paraparesis, Inability to walk, Oro... |
OMIM:617854 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Parkinsonism, Disinhibition, Inappropriate laughter, Neuronal loss... |
OMIM:600274 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Astr... |
ORPHA:282166 |
| Developmental And Epileptic Encephalopathy 69 |
|
Axial hypotonia, Corpus callosum atrophy, Inability to walk, Spastic tetraplegia, Hyperkinetic mo... |
OMIM:618285 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... |
ORPHA:240085 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Neck flexor weakness, Sh... |
ORPHA:457050 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
OMIM:611307 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cerebral atrophy,... |
ORPHA:254886 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Aggressive behavior, Babinski sign, Cerebral atrophy, Inappropriate behavior, Di... |
OMIM:221770 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dystonia, Substantia nigra gliosis, F... |
ORPHA:276244 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Axial hypotonia, Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappro... |
OMIM:619150 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Growth d... |
OMIM:619738 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Dystonia, Ataxia, Corpus callosum atrophy, Babinski sign, Hypotonia, Cerebral... |
OMIM:618088 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Muscle weakness, Gait ataxia |
ORPHA:401953 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... |
OMIM:616921 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res... |
OMIM:619279 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Tremor, Hypotonia, ... |
OMIM:617916 |
| Miyoshi Muscular Dystrophy 3 |
|
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... |
OMIM:613319 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Axial hypotonia, Short stature, Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Sel... |
OMIM:617270 |
| Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity... |
OMIM:617065 |
| Leber Optic Atrophy And Dystonia |
|
Dysphagia, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,... |
OMIM:611523 |
| Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Writer's cramp, Parkinsonism, Involuntary move... |
ORPHA:98759 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... |
OMIM:617672 |
| Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, Ba... |
OMIM:603218 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spastic... |
OMIM:616840 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Cerebral palsy, Aggressive behavior, Corpus callosum atrophy, Unsteady gait, Phoni... |
OMIM:301107 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... |
ORPHA:216873 |
| Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat... |
OMIM:615048 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Somatic sensory dysfunction, Upper motor neuron dysfunction |
OMIM:612577 |
| Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor |
OMIM:253550 |
| Dystonia 25 |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia |
OMIM:615073 |
| Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... |
OMIM:612953 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Axial hypotonia, Short stature, Ataxia, Appendicular hypotonia, Tongue fasciculations, Attention ... |
OMIM:620007 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia,... |
OMIM:168600 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... |
ORPHA:98811 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Tremor, Gait ataxia, Dif... |
ORPHA:423296 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Cerebral atrophy, ... |
OMIM:618877 |
| Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Tremor, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondri... |
OMIM:618951 |
| Autosomal Recessive Spastic Paraplegia Type 56 |
|
Unsteady gait, Babinski sign, Spastic paraplegia, Tip-toe gait, Dystonia, Spastic gait |
ORPHA:320411 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Distal muscle weakness, Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Hypotonia, Self-injurious behavior, Dystonia, Spasticit... |
OMIM:617820 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... |
ORPHA:370980 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Decreased a... |
OMIM:613561 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity, Hypotonia, Attention deficit hyperactivity disorder |
OMIM:618878 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:603516 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior, Hypotonia, Generalized hypotonia, Bruxism, Spasticity |
OMIM:615493 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Kinetic tremor, Parkinsonism, Chorea, Cerebellar Purkinje layer atrophy, Spinal ... |
ORPHA:98756 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity |
OMIM:611895 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Rigidity, Difficulty walking, Sensory ataxia, Dystonia |
OMIM:619661 |
| Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Spastic ataxia, Spastic paraplegia, Dysphagia, Gait disturbance, Dystonia |
OMIM:108600 |
| Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Ophthalmoplegia, Babinski sign, Growth delay, Dystonia,... |
OMIM:618226 |
| Pick Disease Of Brain |
|
Polyphagia, Disinhibition, Inappropriate laughter, Gliosis, Neuronal loss in central nervous syst... |
OMIM:172700 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysphagia, Dysmetria, Gait ata... |
OMIM:601338 |
| Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Short stature, Impaired distal vibration sensation, Limb ataxia,... |
ORPHA:98768 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy,... |
ORPHA:86812 |
| Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Parkinsonism, Involuntary... |
ORPHA:48818 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Mitochondrial hypertrophy, Decreased activity of mitochondrial comp... |
OMIM:500013 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... |
OMIM:617284 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus, Compulsive behaviors |
OMIM:159900 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Dystonia, Involuntary movements, Chorea, Cerebral atrophy, Dysphagia, Self-in... |
OMIM:617493 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
| Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Unsteady gait, Babinski sign, Spastic paraplegia, Tip-toe gait, Dystonia |
OMIM:615030 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Axial hypotonia, Facial hypotonia, Dystonia, Ataxia, Parkinsonism, ... |
OMIM:300055 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Inability to walk, Hypotonia, Cerebral atrophy, Choreoathetosis, Hyperkinetic movements... |
OMIM:618497 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... |
OMIM:608634 |
| Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
| Porphyria, Acute Hepatic |
|
Hemolytic anemia, Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Tongue fasciculations, Tetraparesis, Dy... |
OMIM:618276 |
| Muscular Dystrophy, Progressive Pectorodorsal |
|
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy |
OMIM:310095 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Generalized dystonia, Ataxia, Corpus ... |
OMIM:619389 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Gliosis, Myoclonus, Dysphagia, Spasticity |
OMIM:225753 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Ataxia |
ORPHA:622 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Generalize... |
ORPHA:36387 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy... |
OMIM:181350 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Spasticity, Muscle weakness |
OMIM:611105 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Spastic paraplegia, Babinski sign, Impai... |
ORPHA:251282 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi... |
OMIM:607565 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dyst... |
OMIM:618224 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
| Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, External ophthalmoplegia, Babinski sign, Decrea... |
OMIM:615838 |
| Congenital Myopathy 9A |
|
Neonatal hypotonia, Short stature, Tongue fasciculations, Akinesia |
OMIM:618822 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... |
OMIM:616230 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... |
ORPHA:276435 |
| Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Rigidity, Unsteady gait, Limb... |
ORPHA:98760 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Inability to walk, Hypoglycosylation of alpha-dystroglycan, Ataxia, Muscular dystrophy |
OMIM:615350 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Dysphagia, Abnormal upper motor neuron m... |
OMIM:611637 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Frontotempo... |
ORPHA:275864 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Poor head control, Ataxia, Decreased activity of mitochondrial respiratory chain, D... |
OMIM:614299 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paresis of extensor muscles of the big toe, Distal muscle weakness, Distal lower limb muscle weak... |
OMIM:158590 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Ophthalmoplegia, Myoclonus, Decreased activity of mitochondrial complex I, Lethargy, Spas... |
OMIM:618225 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Dysphagia, Cerebral cortical ... |
OMIM:615911 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Hypotonia, Paroxysmal cho... |
OMIM:500003 |
| Combined Saposin Deficiency |
|
Babinski sign, Hypotonia, Hyperkinetic movements, Myoclonus, Fasciculations, Neuronal loss in cen... |
OMIM:611721 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Short stature, Unsteady gait, Generalized hypotonia, Truncal ataxia, Abnormal r... |
OMIM:614063 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Hypotonia, Truncal ataxia, Abnormal repetitive mannerisms, I... |
OMIM:608636 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Dysphagia |
OMIM:617839 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Hypotonia, Limb dystonia, Intrauterine growth... |
OMIM:620270 |
| Acute Peripheral Arterial Occlusion |
|
Paralysis, Leukocytosis, Paresthesia, Impaired distal tactile sensation, Limb muscle weakness |
ORPHA:90064 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Restlessness, Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramida... |
OMIM:615159 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Cerebellar atrophy, Cerebral atrophy, Growth delay, Generalized hypotonia, Dystonia, Spasticity |
OMIM:617899 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal muscle weakness, Paralysis, Distal sensory impairment, Distal upper limb muscle weakness, ... |
OMIM:605285 |
| Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Knee flexion contracture, Distal sensory impairment, Tip-toe gait... |
OMIM:612954 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Growth delay, Bradykinesia,... |
ORPHA:70594 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to ... |
ORPHA:500180 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Cerebral atrophy... |
OMIM:610217 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
| Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Rigidity, Tremor, Limb ataxia, Gait ataxia... |
OMIM:137440 |
| Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia, Global brain atrophy |
OMIM:613721 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Axial hypotonia, Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand... |
OMIM:618760 |
| Hemidystonia-Hemiatrophy Syndrome |
|
Limb dystonia, Rhizomelic leg shortening, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Dy... |
ORPHA:306741 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Dystonia, Elevated circulating creatine kinase concentration, Parkinsonism, I... |
OMIM:258450 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Cerebral... |
OMIM:611302 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Inability to walk, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Musc... |
OMIM:613155 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Muscular dystrophy, Dis... |
ORPHA:459033 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
| Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Attent... |
OMIM:605361 |
| Atypical Rett Syndrome |
|
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Abnormal muscle ... |
ORPHA:3095 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Increased neuronal autofluorescent lipopigment, Abnormality of extrapyramid... |
OMIM:162350 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Macrocytic anemia, Tremor, Dysmetria, Decreased activity of mitoc... |
OMIM:615578 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Letharg... |
OMIM:312170 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Diffuse cerebral atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal mot... |
ORPHA:352596 |
| Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, H... |
ORPHA:101109 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Dysphagia, Bradykinesia, Gait distu... |
ORPHA:289560 |
| Dravet Syndrome |
|
Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m... |
ORPHA:33069 |
| Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
| Parkinsonian-Pyramidal Syndrome |
|
Substantia nigra gliosis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Dysphag... |
ORPHA:171695 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Developmental And Epileptic Encephalopathy 16 |
|
Severe muscular hypotonia, Hypotonia, Cerebral atrophy, Hemiparesis, Abnormality of extrapyramida... |
OMIM:615338 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia |
OMIM:619651 |
| Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Spasticity, Abnormal mitochondrial morphology, Spastic tetraplegia |
OMIM:300438 |
| Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Dysphagia, Abn... |
ORPHA:247604 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Muscular ... |
OMIM:617066 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Limb-girdle muscle weakness, Muscular dystrophy |
OMIM:616094 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ... |
OMIM:615889 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Bab... |
OMIM:619063 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... |
ORPHA:314603 |
| Foxg1 Syndrome |
|
Dystonia, Short stature, Inability to walk, Hypotonia, Choreoathetosis, Severe postnatal growth r... |
ORPHA:561854 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Elevated circulating creatine kinase concentration, Babinski sign, Hypotonia... |
OMIM:619054 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Spastic parapl... |
OMIM:612319 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Chorea, Dysphagia, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Dystonia, Cere... |
OMIM:277470 |
| Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Inability to walk, Chorea, Cerebral atrophy, Gait ataxia, Self-injurious beha... |
OMIM:618917 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Progressive extrapyramidal movement disorder, Focal d... |
ORPHA:199351 |
| Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l... |
OMIM:204500 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Severe short stature, Muscular dystrophy |
OMIM:204730 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Postural tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign... |
ORPHA:98808 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Decreased activity of mitochondrial ATP synthase complex, Patent ductu... |
OMIM:610498 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Paresis of extensor muscles of the big... |
ORPHA:99947 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Hepatomegaly, Acute hepatitis, Clonus, Poor coordination, Abnormal ... |
OMIM:238970 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Tremor, Growth delay, Choreoathetosi... |
OMIM:612716 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Short stature, Ataxia, Inability to walk,... |
OMIM:616756 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, C... |
OMIM:616127 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Proxima... |
ORPHA:598 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal mus... |
OMIM:608840 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Hypotonia, Self-injurious behavior, Athetosis... |
ORPHA:382 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis, Dysphagia |
OMIM:118800 |
| Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Sh... |
ORPHA:75567 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysphagia, Dysmetria, Ga... |
OMIM:618093 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... |
ORPHA:227510 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Hypotonia, Spastic tetraplegia, Gliosi... |
OMIM:612936 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Involuntary movements, Aggressive behavior, Hypotonia, Agitation, Abnormal repetitive mannerisms |
OMIM:617171 |
| Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal muscle weakness, Distal sensory impairment |
OMIM:614369 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Tremor, Hypotonia, Hyperkinetic movements, Upper limb spasticity, Gliosis, Gait di... |
ORPHA:457240 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy, Gait disturbance |
ORPHA:1875 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
| Congenital Myopathy 3 With Rigid Spine |
|
Short stature, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Inc... |
OMIM:602771 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Restlessness, Ataxia, Spastic tetraplegia, Tetraparesis, Dystonia, Infantile muscular hypotonia |
ORPHA:263410 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Ataxia, Abnormal pyramidal sign, Decreased activity of mitochondrial complex I, Lethargy, Failure... |
OMIM:618228 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Agitation, Neurodegeneration, Spa... |
ORPHA:803 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Dystonia 17, Torsion, Autosomal Recessive |
|
Torticollis, Focal dystonia |
OMIM:612406 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spast... |
ORPHA:599373 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Dysphagia, Bradykinesia, G... |
OMIM:615530 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... |
ORPHA:272 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Short stature, Elevated circulating creatine kinase... |
ORPHA:52430 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Cerebral palsy, Short stature, Clonus, Babinski sign, Spastic tetraplegia, Cerebra... |
OMIM:619847 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Involuntary movements, Hypotonia, Tetraplegia, Tongue fasciculations, Hypokinesia |
OMIM:300816 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral atrophy, Hypertonia, Gliosis, Intrauterine growth retardation, Spast... |
OMIM:615095 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
| Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Akinesia, Abnormal pyramidal sign, Ch... |
OMIM:618249 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Chorea, Bab... |
ORPHA:225147 |
| Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Severe muscular hypotonia, Elevated circulating creatine kinase concentration, Hypotonia, Degener... |
OMIM:301830 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... |
OMIM:619028 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Somatic sensory dysfunction, Growth delay, Ankle clonus, Fasciculations, Spasticity |
OMIM:620323 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait |
OMIM:619966 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Elevate... |
OMIM:614298 |
| Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Babinski sign, Spastic gait, Spastic dysarthria, P... |
OMIM:606353 |
| Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Hypotonia, Limb... |
OMIM:605259 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Abnormality of extrapyr... |
OMIM:204300 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Waddling gait, Short stature, Facial hypotonia, Babinski sign, Hypotonia, Spa... |
ORPHA:280763 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap... |
ORPHA:2926 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, External ophthalmoplegia, Unsteady gait, Babinski sign, Limb ataxia, ... |
OMIM:615768 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Chorea, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty w... |
ORPHA:369840 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Postural tremor, Ataxia,... |
OMIM:615491 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Distal muscle weakness, Impaired pain sensation, Tremor, Splenomegaly, Hepatic brid... |
OMIM:616719 |
| Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Bradykinesia, ... |
ORPHA:228346 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations, Dysphagia |
ORPHA:85162 |
| Raynaud-Claes Syndrome |
|
Lower limb spasticity, Dystonia, Aggressive behavior, Hypotonia, Cerebral atrophy, Progressive ce... |
OMIM:300114 |
| Mepan Syndrome |
|
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Cerebral a... |
ORPHA:508093 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
| Dystonia 15, Myoclonic |
|
Myoclonus, Writer's cramp, Dystonia |
OMIM:607488 |
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Chorea, Spastic tetraplegia, Hypotonia, Self-injurious behavior, Athetosis, D... |
OMIM:619922 |
| Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Dystonia, Dysphagia |
OMIM:271930 |
| Spinocerebellar Ataxia Type 11 |
|
Abnormal pyramidal sign, Dysphagia, Progressive cerebellar ataxia, Gait imbalance, Difficulty wal... |
ORPHA:98767 |
| Smith-Magenis syndrome |
|
Hyperactivity, Short stature, Hypotonia, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia |
OMIM:614820 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy |
OMIM:613723 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Tetraplegia, Growth delay, Hypertonia, Lethargy, Failure to thrive |
OMIM:274270 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 |
|
Intrauterine growth retardation, Axial hypotonia, Spastic tetraplegia, Dystonia |
OMIM:251280 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Distal muscle weakness, Ataxia, Tremor, Dysmetria, Distal sensory impairment,... |
OMIM:618387 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Pontocerebellar Hypoplasia Type 1 |
|
Ataxia, Hypotonia, Degeneration of anterior horn cells, Tongue fasciculations, Spasticity, Cerebr... |
ORPHA:2254 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Truncal ataxia, Limb ataxia, Gait ataxia, Cogwheel rigidity,... |
OMIM:607346 |
| Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor, Waddling gait |
OMIM:271150 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Hypotonia, Gliosis, Gait disturbance, Generalized hypotonia, Lethargy, Spasticity |
OMIM:603896 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Ataxia, Hypotonia, Truncal ataxia, Gait ataxia, Gait disturbance, Difficul... |
OMIM:614458 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... |
OMIM:610246 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Dystonia, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Choreoathetosis, Growth... |
ORPHA:289916 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Inability to walk, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, ... |
OMIM:613156 |
| Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski ... |
ORPHA:397946 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Abnormal pyramidal sign, Dystonia |
OMIM:619196 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, G... |
OMIM:233910 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Neuromuscular dysphagia, Bradykinesia, Poor fine motor coordination, Difficulty ... |
ORPHA:171442 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, A... |
OMIM:208920 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Severe muscular hypotonia, Involuntary movements, Tongue fasciculations, Generalized hypotonia, H... |
ORPHA:238329 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Lethargy, Failure to thrive |
OMIM:250620 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Akinesia, Decreased activity of mitochondrial respiratory chain, Spast... |
OMIM:619147 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, My... |
ORPHA:139485 |
| Classic Galactosemia |
|
Speech apraxia, Hepatomegaly, Incoordination, Ataxia, Postural tremor, Dystonia, Abnormal erythro... |
ORPHA:79239 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Axial hypotonia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, ... |
OMIM:618321 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Gliosis |
OMIM:613002 |
| Restless Legs Syndrome, Susceptibility To, 1 |
|
Restless legs, Paresthesia, Myoclonus |
OMIM:102300 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Growth delay, Athetosis, Tetraparesis, Dystonia |
OMIM:619310 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Unsteady gait, Hypotonia, Choreoathetosis, Myoclonus... |
OMIM:301020 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Skeletal muscle hypertrophy, Muscular dystrophy |
OMIM:613158 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypertonia, Dystonia, Lethargy, Failure to thrive, Hepatic steatosis, Intrauterine growth retarda... |
ORPHA:26792 |
| Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Frontotemporal cerebral atrophy, Choreoat... |
ORPHA:391417 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Generalize... |
ORPHA:845 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Gliosis, ... |
OMIM:607485 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia |
OMIM:619065 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Short stature, Aggressive behavior, Limb tremor, Self-injurious behavior, Hypertonia, Myoclonus, ... |
OMIM:300699 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, D... |
OMIM:609195 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Thrombocytopenia, Splenomegaly, Choreoathetosis, Neutropenia, Lethargy, F... |
ORPHA:79312 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular to... |
OMIM:616827 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Axial hypotonia, Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal... |
OMIM:614498 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... |
OMIM:607060 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Babinski sign, Slurred speech, Truncal ataxia, Dysmetria, Gait ataxia, Clumsiness, Unsteady gait,... |
ORPHA:453521 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
| Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Episodic hemiplegia, Episodic quadriplegia, Dystonia |
OMIM:104290 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Generalized hypotonia, Abnormal repetitive... |
OMIM:239500 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... |
OMIM:607458 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Ataxia, Decreased circulating carnitine concentration, Lethargy, Spasticity, Failur... |
ORPHA:2394 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... |
OMIM:607483 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypo... |
OMIM:617954 |
| Severe Canavan Disease |
|
Poor head control, Inability to walk, Babinski sign, Decerebrate rigidity, Lethargy, Spasticity |
ORPHA:314911 |
| Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Substantia nigra gliosis, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276241 |
| Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Dysphagia, Abnormality of extrapyramidal motor function, Myo... |
OMIM:607822 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
| Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Weakness due to upper motor neuron d... |
ORPHA:466722 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia, Reduced haptoglobin level |
OMIM:612126 |
| Muscular Dystrophy, Becker Type |
|
Calf muscle pseudohypertrophy, Muscular dystrophy |
OMIM:300376 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysphagia, Dysmetria, Dysdiadochokinesis, M... |
OMIM:614487 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus |
OMIM:615400 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... |
ORPHA:330050 |
| Developmental And Epileptic Encephalopathy 6B |
|
Axial hypotonia, Ataxia, Inability to walk, Chorea, Hypotonia, Choreoathetosis, Hyperkinetic move... |
OMIM:619317 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Axial hypotonia, Head titubation, Increased circulating ferritin concen... |
ORPHA:3240 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia, Generalized hypotonia |
OMIM:617830 |
| Huntington Disease-Like 3 |
|
Caudate atrophy, Extrapyramidal muscular rigidity, Broad-based gait, Chorea, Abnormal pyramidal s... |
ORPHA:157946 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
| Developmental And Epileptic Encephalopathy 44 |
|
Cerebellar atrophy, Axial hypotonia, Short stature, Cerebral atrophy, Athetosis, Dystonia, Spasti... |
OMIM:617132 |
| Huntington Disease-Like 3 |
|
Caudate atrophy, Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Spasticity, Abnormality ... |
OMIM:604802 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavio... |
OMIM:271980 |
| Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, Cerebral atrophy, Athetosis, Dystonia |
OMIM:615473 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Myoclonus, Attention deficit hyperactivity disor... |
OMIM:619971 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Myopathy, Muscular dystrophy, Increased endomysial connective tissue |
OMIM:602541 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Short stature, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesi... |
OMIM:616291 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Elevated circulating creatine kinase concentrati... |
ORPHA:306511 |
| Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia, Recurrent hand flapping |
OMIM:618141 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Congenital muscular dystrophy, Muscular dystrophy |
OMIM:613151 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Unsteady gait, Distal sensory impairment, Difficulty walking, Dysp... |
ORPHA:600 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Short stature, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, My... |
ORPHA:251347 |
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... |
OMIM:613205 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Incoordination, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Brain atrophy, Bruxism, Spasti... |
OMIM:618718 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Cachexia, Proximal muscle weakness, Fatigable weakness, Decreased plasma to... |
ORPHA:42 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:79283 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Generalized hypotonia |
OMIM:606053 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Hyperkinetic movements, Hypotonia, Stereotypical hand wringing |
ORPHA:397933 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Elevated circulating creatine kinase concentra... |
ORPHA:168486 |
| Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage gait, Abnorm... |
OMIM:613280 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Short stature, Writer's cramp, Dystonia, Reduction of oli... |
OMIM:312080 |
| Combined Oxidative Phosphorylation Deficiency 1 |
|
Axial hypotonia, Hypokinesia, Hypertonia, Intrauterine growth retardation, Spasticity, Global bra... |
OMIM:609060 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Impaired vibration sensa... |
ORPHA:100999 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Impaired vibration sensa... |
ORPHA:171863 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damag... |
OMIM:278780 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Poor coordination, Stereotypical ... |
OMIM:309548 |
| Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Neuromuscular dysphagia, Clumsiness, Bradykinesia, Poor fine motor coordination, G... |
ORPHA:171439 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hypotonia, Ab... |
OMIM:619470 |
| Developmental And Epileptic Encephalopathy 7 |
|
Hypotonia, Spastic tetraparesis, Dystonia |
OMIM:613720 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spastic tetraple... |
OMIM:618404 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Hemimegalencephaly |
|
Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Axial hypotonia, Short stature, Ataxia, Tremor, Rigidity, Hypotonia, Choreoat... |
OMIM:612438 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Caudate atrophy, Dystonia, Eleva... |
OMIM:200150 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Tremor, Hypotonia, Hyperkinetic movements, Gliosis, Gait disturbance, Spasticity |
OMIM:300957 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy |
OMIM:615352 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Dystonia, Postural tremor, Elevated circulating creatine kinase conc... |
ORPHA:64753 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Decreased activity of mitochondrial ATP synthase complex, Short stature, Gait imbalance, Lethargy... |
OMIM:618120 |
| Congenital Disorder Of Glycosylation, Type In |
|
Ataxia, Short stature, Hypotonia, Cerebral atrophy, Myoclonus, Spasticity |
OMIM:612015 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Short stature, Trem... |
OMIM:610185 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Inability to walk, Cerebellar gliosis, Hypotonia, Cerebral atrophy, Gliosis, Dystonia, In... |
ORPHA:79243 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Dystonia, Ataxia, Tremor, Bruxism, Cerebral atrophy, Growth delay, Choreoathetos... |
OMIM:619422 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Decreased activity of mitochondrial respiratory chain, Spastic tetraparesis, Opisthotonus, Decrea... |
OMIM:605711 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Choreoathetosis, Leukopen... |
ORPHA:27 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Clumsiness, Stereotypical body ro... |
ORPHA:100973 |
| Aicardi-Goutieres Syndrome 2 |
|
Spastic paraplegia, Cerebral atrophy, Dystonia |
OMIM:610181 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Paroxysmal dyskinesia,... |
OMIM:606703 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Severe muscular hypotonia, Inability to walk, Hypotonia, Sensory ataxia, Hypokinesia |
OMIM:618184 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Diminished movemen... |
OMIM:608643 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Hypokinesia, Akinesia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenome... |
OMIM:608013 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Cerebral atrophy, Dysmetria, Pseud... |
OMIM:616140 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Rabies |
|
Vocal cord paresis, Cerebral palsy, Paresthesia, Depression |
ORPHA:770 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
| Developmental And Epileptic Encephalopathy 1 |
|
Axial hypotonia, Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Growth delay, Choreoath... |
OMIM:308350 |
| Developmental And Epileptic Encephalopathy 72 |
|
Axial hypotonia, Inability to walk, Cerebral atrophy, Hyperkinetic movements, Dysphagia |
OMIM:618374 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Intrauterine growth retardation, Abnorm... |
OMIM:615282 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... |
OMIM:226670 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
Abnormal lower-limb motor evoked potentials, Peroneal muscle atrophy, Thenar muscle atrophy, Then... |
ORPHA:171617 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Short stature, Postural tremor, Ataxia, Tremor, Babinski sign, Dysp... |
OMIM:607694 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Babinski sign, Pseudobulbar paralysis, Gliosis, Spasticity |
OMIM:169500 |
| Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Elevated circulating alpha-fetoprotein ... |
OMIM:616267 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
| Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:128200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis, Hypotonia |
OMIM:615119 |
| Developmental And Epileptic Encephalopathy 27 |
|
Axial hypotonia, Chorea, Hypotonia, Myoclonus, Dystonia, Spasticity |
OMIM:616139 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
| Muscular Hypertonia, Lethal |
|
Hypertonia, Hypokinesia |
OMIM:254120 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Aggressive behavior, Hypotonia, Clumsiness, Tongue fasciculations, Generalized hypotonia,... |
OMIM:614707 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Growth delay, Gait dist... |
ORPHA:765 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... |
OMIM:611588 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Hypotonia |
OMIM:618328 |
| Primary Dystonia, Dyt21 Type |
|
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... |
ORPHA:306734 |
| Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy |
OMIM:309930 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Gait disturbance |
ORPHA:26 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysphagia, Dysmetria, Spastic dysarthria, Dysdiadochokinesi... |
ORPHA:313772 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... |
OMIM:158900 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia |
ORPHA:67046 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Gait ataxia, Abnormality of the liver, Hypertonia, Abnormalit... |
ORPHA:254892 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance... |
OMIM:614898 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Lethargy, Ataxia, Muscle weakness |
OMIM:500007 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Truncal ata... |
OMIM:617560 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dystonia, Short stature, Postural tremor, Ataxia, Impaired distal proprioception, Babinski sign, ... |
ORPHA:447896 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Short stature, Ataxia, Inability to walk, Dystonic gait, Hypotonia, Tituba... |
ORPHA:280210 |
| 4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Dysphagia, Dysmetria, Progressive ga... |
ORPHA:289494 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Hypotonia, Neurodegenerat... |
OMIM:616239 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Impaired pain sensation, Impaire... |
OMIM:607706 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Lethargy, Short stature |
OMIM:618573 |
| Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Calf muscle pseudohypertrophy, Achilles tendon contracture, Flexion contracture, H... |
OMIM:310200 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hepatomegaly, Lethargy, Ataxia, Dystonia |
OMIM:246900 |
| Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypotonia, Hyp... |
OMIM:612736 |
| Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Dystonia, Ataxia, Dysphagia |
ORPHA:1171 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Central Neurocytoma |
|
Pain insensitivity, Ataxia, Babinski sign, Depression, Paresthesia, Lethargy |
ORPHA:73256 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait disturbance, Dystonia, Cerebra... |
ORPHA:101006 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Muscular dystrophy |
OMIM:158800 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
| Barth Syndrome |
|
Cyclic neutropenia, Gowers sign, Abnormal mitochondrial morphology, Hypochromic microcytic anemia... |
OMIM:302060 |
| Rett Syndrome |
|
Limb apraxia, Inability to walk, Infantile muscular hypotonia, Bradykinesia, Agitation, Gait dist... |
ORPHA:778 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
| Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, Abnormalit... |
ORPHA:309162 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature |
OMIM:300271 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Impaired distal vibration sensation, Axonal degeneration, Distal sensory impairment, Steppage gai... |
OMIM:614436 |
| Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Facial diplegia, Paralysis |
OMIM:616286 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Gait ataxia, Neurodegeneration |
ORPHA:438134 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hypotonia, Myoclonus, Generalized ... |
OMIM:605899 |
| Leigh Syndrome |
|
Ataxia, Hypotonia, Gliosis, Generalized hypotonia, Dystonia, Spasticity |
OMIM:256000 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Vocal cord paralysis, Mitoc... |
ORPHA:397744 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hypotonia, Cerebral atrophy, Growth delay, Gliosis,... |
OMIM:614946 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Generalized muscle weakness, Increased body weight, Pancreatic islet-cell hyperplasia, Le... |
ORPHA:276608 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Increased neuronal autofluorescent lipopigment, Hypotonia, Cerebral atrophy, Myoclonus, G... |
OMIM:256730 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Elevated circulating... |
OMIM:617193 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cere... |
ORPHA:527497 |
| Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... |
ORPHA:52368 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus |
OMIM:608105 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Impaired distal proprioception, Babinski sign, Abnormal pyramidal sign, H... |
OMIM:616688 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Abnormal lower-limb motor evoked potentials, Impaired vibration sensation in the lower limbs, Spi... |
ORPHA:171612 |
| Developmental And Epileptic Encephalopathy 53 |
|
Spastic tetraplegia, Hypotonia, Elevated circulating creatine kinase concentration, Dystonia |
OMIM:617389 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Impaired temperature sensation, Impaired pain sensation, Impaired p... |
DECIPHER:29 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Intrauter... |
OMIM:618238 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia |
OMIM:614249 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... |
OMIM:128100 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Axial hypotonia, Short stature, Absent pubertal growth spur... |
ORPHA:464282 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A... |
OMIM:614831 |
| Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia |
ORPHA:31709 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Brain atrophy, Ge... |
OMIM:619092 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Dysmetria, Gait ataxia, Bradykinesia, Gait disturban... |
ORPHA:93256 |
| Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Ophthalmoplegia, Spastic paraplegia, Tet... |
ORPHA:254913 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Ataxia, Decreased response to growth hormone stimulation tes... |
ORPHA:3363 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
| Susac Syndrome |
|
Somatic sensory dysfunction, Gait ataxia, Apathy, Muscle weakness, Lethargy, Upper motor neuron d... |
ORPHA:838 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Distal muscle weakness, Vocal cord paralysis, Lower limb muscle weakness |
OMIM:607641 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia, Hypertonia, Gait disturbance, Hyperkinetic movements, Le... |
OMIM:236270 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Lethargy,... |
OMIM:604377 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Dystonia, Spastic tetraparesis, Poor coordination, Hypoto... |
ORPHA:391428 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Axial hypotonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opi... |
OMIM:619653 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Cerebellar atrophy, Severe short stature, Dystonia, Ataxia, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617951 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Achilles tendon contracture, Macroglossia, Calf muscle hypertrophy, Shoulder girdl... |
OMIM:607155 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... |
OMIM:604391 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Abnormal mitochondrial shape, Gait atax... |
ORPHA:543470 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells, Tongue fasciculation... |
ORPHA:1145 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Myoclonus, Difficulty walking, Attention deficit hyperactivity disorder |
OMIM:619191 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... |
ORPHA:401768 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Poor motor coordination, Tre... |
ORPHA:1170 |
| Sulfite Oxidase Deficiency, Isolated |
|
Axial hypotonia, Generalized dystonia, Elevated circulating creatine kinase concentration, Ataxia... |
OMIM:272300 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Parkinsonism,... |
ORPHA:352649 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Progressive distal muscle weakness, Tremor, Inability to walk, Proxi... |
ORPHA:101077 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Hypotonia, Cerebral atrophy, Difficulty walking, Spasticity, Abnormal repetitive mannerisms |
OMIM:617393 |
| Congenital Myopathy 12 |
|
Neonatal hypotonia, Abnormal circulating creatine kinase concentration, Hypotonia, Akinesia |
OMIM:612540 |
| Choreoacanthocytosis |
|
Caudate atrophy, Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsi... |
ORPHA:2388 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Distal muscle weakness, Impaired pain sensation, Impaired distal proprioception, Inability to wal... |
ORPHA:99948 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy |
OMIM:613869 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti... |
OMIM:615513 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Hypotonia, Clumsiness, ... |
OMIM:617282 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7 |
|
Hypotonia, Brain atrophy, Dystonia |
OMIM:620359 |
| Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
| Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome |
|
Paroxysmal dystonia, Writer's cramp |
ORPHA:163727 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
| 3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Spastic tetraplegia, Cerebral atrophy, Athetosis, Dystonia, Spasticity, Self-mutilation |
OMIM:250950 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased extraneuronal autofluorescent lipopigment, Parkinsonism, Increased neuronal autofluores... |
OMIM:204200 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia,... |
OMIM:618598 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair |
ORPHA:1174 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, ... |
ORPHA:101097 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
| Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Blepharospasm, Hyperkinetic movements, Lim... |
ORPHA:93958 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
| Oculopharyngodistal Myopathy |
|
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... |
ORPHA:98897 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Myoclonus |
ORPHA:1935 |
| Primary Dystonia, Dyt6 Type |
|
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... |
ORPHA:98806 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower... |
ORPHA:438114 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Hypotonia, Dystonia |
ORPHA:139406 |
| Typhoid |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy |
ORPHA:99745 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Spastic tetraplegia, Dystonia |
OMIM:618646 |
| Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Ataxia, Myopathy, Muscular dystrophy, Aplasia/Hypo... |
ORPHA:559 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Abnormality of chromosome stability, Ataxia, Short stature, Tremor, Polycystic... |
ORPHA:100 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Distal muscle weakness, Tremor, Babinski sign, Limb muscle weakness, Distal sensory impairment, S... |
OMIM:609260 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Short stature, Tremor, Splenomegaly, Lethargy, Failure to thrive, Decreased... |
OMIM:201100 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Ankle clonus, Lethargy, Spasticity, Failure to thrive |
ORPHA:247525 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation,... |
OMIM:611390 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Akinesia |
OMIM:607598 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Parkinsonism, ... |
ORPHA:1320 |
| Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Upper motor neuron dysfunction, Babins... |
ORPHA:306674 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiadochoki... |
ORPHA:309854 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Impulsivity, Abnormality of coordination, Tremor, Rigidity, Involuntary mo... |
ORPHA:442835 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
| Autosomal Dominant Spastic Paraplegia Type 41 |
|
Abnormal lower-limb motor evoked potentials, Hand muscle weakness, Spinal cord lesion, Seizure, L... |
ORPHA:320355 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Decreased activity of mitochondrial complex IV, Failure to thrive in infancy, Hepatomegaly |
OMIM:619064 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Tetraplegia, Dystonia, Intrauterin... |
OMIM:300475 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Short stature, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Self-... |
OMIM:617695 |
| Optic Atrophy 11 |
|
Hyperactivity, Short stature, Ataxia, Gait apraxia, Hypotonia, Dysmetria, Athetosis, Stereotypica... |
OMIM:617302 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus |
OMIM:612016 |
| Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Hypotonia, L... |
OMIM:248500 |
| Epilepsy, Nocturnal Frontal Lobe, 4 |
|
Dystonia |
OMIM:610353 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ... |
OMIM:619386 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hy... |
OMIM:617964 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Upp... |
ORPHA:254343 |
| Developmental And Epileptic Encephalopathy 109 |
|
Hyperactivity, Axial hypotonia, Hypotonia, Gait ataxia, Crouch gait, Myoclonus, Intrauterine grow... |
OMIM:620145 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Severe temper tantrums, Ataxia, Ag... |
OMIM:617710 |
| Leukodystrophy, Hypomyelinating, 25 |
|
Growth delay, Gait ataxia, Hypotonia, Dystonia |
OMIM:620243 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
| Dystonia 28 |
|
Torticollis, Generalized dystonia, Short stature, Abnormal pyramidal sign, Leg dystonia, Arm dyst... |
ORPHA:589618 |
| Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Truncal ataxia, Gait ataxia... |
OMIM:614153 |
| Butyrylcholinesterase Deficiency |
|
Abnormality of the liver, Paralysis |
ORPHA:132 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Hypotonia, Dysmetria, Gait... |
OMIM:616505 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign,... |
ORPHA:363400 |
| Spastic Paraplegia 47, Autosomal Recessive |
|
Waddling gait, Short stature, Inability to walk, Spastic paraplegia, Babinski sign, Hypertonia, D... |
OMIM:614066 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia |
OMIM:618239 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... |
OMIM:618090 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Short stature, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Short stature, Ataxia, Birth length less than 3rd percentile, Gait... |
OMIM:614104 |
| Christianson Syndrome |
|
Cerebellar atrophy, Dystonia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Neu... |
ORPHA:85278 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Vocal cord paralysis, Muscle weakness, Hand paresthesia |
OMIM:162500 |
| Isolated Complex I Deficiency |
|
Hepatomegaly, Poor head control, Ataxia, Decreased activity of mitochondrial complex I, Lethargy,... |
ORPHA:2609 |
| Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Dystonia, ... |
ORPHA:2828 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... |
OMIM:613670 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Elevated circulating creatine kinase concentration, Temporal cortical atrophy, Gait disturbance, ... |
OMIM:167320 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,... |
ORPHA:280219 |
| Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Generalized muscl... |
ORPHA:97279 |
| Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Gait distu... |
ORPHA:412217 |
| Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Paroxysmal dystonia |
OMIM:611147 |
| Neutral Lipid Storage Disease With Myopathy |
|
Short stature, Elevated circulating creatine kinase concentration, Hypotonia, Fasciculations, Gen... |
OMIM:610717 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
| Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Attention deficit hyperactivity disorder |
OMIM:616421 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Ataxia, Myoclonus |
OMIM:545000 |
| Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis |
OMIM:602066 |
| Spinocerebellar Ataxia 1 |
|
Chorea, Impaired proprioception, Dysmetria, Dorsal column degeneration, Spinocerebellar atrophy, ... |
OMIM:164400 |
| Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
| Developmental And Epileptic Encephalopathy 107 |
|
Appendicular hypotonia, Axial hypotonia, Abnormal repetitive mannerisms, Hypotonia |
OMIM:620033 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Hypotonia, Global brain atrophy, Myoclonus |
OMIM:609056 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Autosomal Dominant Spastic Paraplegia Type 8 |
|
Abnormal lower-limb motor evoked potentials, Peroneal muscle atrophy, Impaired vibration sensatio... |
ORPHA:100989 |
| Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Hand tremor, Dysphagia, Dysmetria, Limb ataxia, Tongue fas... |
ORPHA:276198 |
| Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
OMIM:110050 |
| Familial Paroxysmal Ataxia |
|
Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy |
ORPHA:97 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Short stature, Mitochondrial hypertrophy, Progressive muscle weakness, Loss of ambulation, Failur... |
OMIM:619518 |
| Dyschromatosis Symmetrica Hereditaria |
|
Torsion dystonia |
ORPHA:41 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Broad-based gait, Distal muscle weakness, Limb muscle weakness, Sensory ataxia, Distal sensory im... |
OMIM:614895 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Distal muscle weakness, Ataxia, Proximal muscle weakness, Tremor, External ophthalmoplegia |
OMIM:618637 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Progressive spastic quadriplegia, Pro... |
ORPHA:513436 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Generalized hypotonia, Dystonia |
OMIM:616763 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Ankle flexion contracture, Knee flexion contracture, Muscular dystrophy, Camptodactyly |
OMIM:608799 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, Babinski sign, Disinhibition, Myoclonus, Gait disturbance, Apraxia, Cerebral cor... |
OMIM:618193 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Paresthesia |
ORPHA:640 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Choreoathetosis, Generalized hypotoni... |
OMIM:618416 |
| Fetal Akinesia Deformation Sequence |
|
Cryptorchidism, Hypokinesia, Akinesia |
ORPHA:994 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Steppage gait, Fasciculations, Distal sensory impairment |
OMIM:606595 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy |
OMIM:617900 |
| Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Axial hypotonia, Spastic tetraplegia, Cerebral atrophy, Generalized hypotonia... |
OMIM:619125 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Generalized hypotonia, Dysphagia |
OMIM:201550 |
| Myasthenic Syndrome, Congenital, 16 |
|
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Periodic paralysis |
OMIM:614198 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration |
OMIM:146500 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Distal muscle weakness, Impaired distal proprioception, Tremo... |
ORPHA:137898 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spinal cord les... |
ORPHA:401866 |
| Dystonia 35, Childhood-Onset |
|
Dystonia |
OMIM:619921 |
| Torsion Dystonia With Onset In Infancy |
|
Torsion dystonia |
OMIM:602554 |
| Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Atrophy of the spinal cord, Babinski sign, Hypotonia, Focal dystonia, Spastic dy... |
ORPHA:447757 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
| Allan-Herndon-Dudley Syndrome |
|
Axial hypotonia, Short stature, Ataxia, Babinski sign, Abnormal pyramidal sign, Spastic tetrapleg... |
ORPHA:59 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Tremor, Cryptorchidism, Abnormality of mitochondrial metabolism, Hypertonia, Gait ... |
ORPHA:1192 |
| Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Short stature, Ataxia, Slurred speech, Dystonia |
OMIM:230650 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Axial hypotonia, Dystonia, Ataxia, Rigidity, Head titubation, Babinski sign, Cerebral atrophy, Ch... |
OMIM:608804 |
| Dihydropyrimidinase Deficiency |
|
Growth delay, Lethargy, Abnormal pyramidal sign, Extrapyramidal dyskinesia |
OMIM:222748 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Azoospermia, Cirrhosis, Lethargy |
OMIM:602390 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Dystonia, Elevated circulating creatine kinase concentration, Elevated circul... |
OMIM:606002 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Weight loss, Growth delay, Lethargy, Thrombocytopenia |
ORPHA:79242 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
| Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Temporal cortical atrophy, Spastic tetraplegia, Spasticity, Athetosis, Hypert... |
ORPHA:621 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Short stature, Elevated circulating creatine kinase concentration, Loss of ability to walk in ear... |
OMIM:612073 |
| Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia |
OMIM:608971 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Abnormal mitochondrial shape, External ophthalmoplegia, Growth delay, Spastic... |
ORPHA:485421 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, N... |
OMIM:275350 |
| Spinocerebellar Ataxia Type 6 |
|
Incoordination, Babinski sign, Unsteady gait, Dysphagia, Gait ataxia, Blepharospasm, Progressive ... |
ORPHA:98758 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Axial hypotonia, Dystonia, Clonus, Chorea, Babinski sign, Hypotonia, Cerebral... |
OMIM:612389 |
| Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Impaired proprioception, Upper limb hypertonia, Limb dystonia |
ORPHA:319199 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Aggressive behavior, Clumsiness, Hyperkinetic movements, Dystonia |
ORPHA:725 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Head-banging, Stereotypical bod... |
ORPHA:86309 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ... |
ORPHA:99965 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Head tremor, Dystonia, Intention tremor |
OMIM:613724 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, ... |
OMIM:614381 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Distal muscle weakness, Tremor, Paraparesis, Babinski sign, D... |
OMIM:302800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Spastic tetraplegia, Generalized hypotonia, Dystonia, Intrauterine growth ret... |
OMIM:618237 |
| Bilateral Generalized Polymicrogyria |
|
Axial hypotonia, Short stature, Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia... |
ORPHA:208447 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Impaired vibration sensation in the ... |
ORPHA:88628 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Athetosis, Spasticity, Ataxia, Dystonia |
OMIM:612951 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Hypotonia, Myoclonus, Dystonia, Spasticity |
OMIM:620094 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Megaloblastic anemia, Paresthesia, Lethargy, Thrombocytopenia |
ORPHA:49827 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Severe short stature, Rigidity, Cerebral atrophy, Growth delay, Myoclonus, Intrauterine growth re... |
OMIM:619057 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Bulbar palsy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Abnormal ... |
OMIM:211530 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity |
OMIM:251950 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia |
OMIM:618587 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Hypotonia, Athetosis, Gait disturbance, Myoclonu... |
OMIM:618241 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Abnormal spinal cord morpholo... |
ORPHA:139578 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Babinski sign, D... |
ORPHA:88644 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Elevated circulating creatine kinase conc... |
OMIM:615290 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Gait disturbance |
ORPHA:101078 |
| Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
| African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Hepatomegaly, Alopecia, Abnormal central motor ... |
ORPHA:3385 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Dystonia, Cerebral atrophy, Choreoathetosis, Dysphagia, Limb hypertonia |
OMIM:618247 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Axonal degeneration, Diaphragmatic paralysis, Degeneration of anterior horn cells, Neonatal hypot... |
OMIM:604320 |
| Friedreich Ataxia |
|
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysphagia, Dysmetria, Gait ata... |
ORPHA:95 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hypotonia, Hemiparesis, Self-injurious ... |
OMIM:618004 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired distal vibration... |
OMIM:157640 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Action myoclonus, Frequent falls, Myoclonus, Gait ataxia |
OMIM:616540 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
| Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Hyperactivity, Axial hypotonia, Dystonia, Ataxia, Impulsivity, Spastic tetrap... |
ORPHA:35069 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy |
OMIM:615980 |
| Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Growth delay, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:618244 |
| Episodic Ataxia, Type 9 |
|
Episodic ataxia, Dystonia |
OMIM:618924 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Aggressive behavior, Chorea, Unsteady gait, Self-injurious ... |
ORPHA:485350 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Neonatal hypotonia, Myoclonus |
OMIM:619303 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
| Developmental And Epileptic Encephalopathy 28 |
|
Axial hypotonia, Rigidity, Cerebral atrophy, Spasticity, Hypokinesia |
OMIM:616211 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Distal muscle weakness, Tremor, Ankle weakness, Distal sensory impairment, Steppage gait, Gait di... |
OMIM:118300 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Oculomotor apraxia, Hypotonia, Choreoathetosis... |
OMIM:245348 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Ataxia, Spastic paraplegia, Poor gross motor coordination, Spastic tetraplegia, Unsteady gait, Po... |
OMIM:245349 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Hypotonia, Neurodegeneration, Glio... |
OMIM:214150 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Dystonia, Atrophy/Degeneration affecting the brainstem, Hypotonia, Generalized hypotonia, Brain a... |
OMIM:616277 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Hypoplastic heart, Akinesia |
OMIM:253290 |
| Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Hand tremor, Growth delay, Hypertonia, Generalized hypotonia, Dystonia, Intrauterine gr... |
OMIM:618947 |
| Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Inability to walk, Hypotonia, Cerebral at... |
OMIM:103050 |
| Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... |
ORPHA:33445 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... |
OMIM:615673 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Joint contracture, Generalized limb muscle atrophy, Musc... |
OMIM:615351 |
| Autosomal Dominant Spastic Paraplegia Type 12 |
|
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Impaired vibration sensa... |
ORPHA:100993 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Dystonia, Short stature, Anemia, Neutropenia, Lethargy, Failure to th... |
OMIM:606054 |
| Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Frontotemporal cerebr... |
ORPHA:79097 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Dystonia, Loss of ambulation, Intrauterine growth retardation |
OMIM:615010 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Vocal cord paralysis, Distal sensory impairment |
OMIM:616287 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Self-injurious behavior, Neonatal hypotonia, Abnormal repet... |
OMIM:619690 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Distal sensory impairment, Fasciculations |
OMIM:137200 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Cerebellar hypoplasia |
OMIM:613163 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati... |
ORPHA:79244 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
| Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
| Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic parap... |
ORPHA:726 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Waddling gait, Short stature, Elevated circulating creatine k... |
OMIM:615356 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Cerebellar atrophy, Progressive truncal ataxia, Cerebral atrophy, Progressive cerebellar ataxia, ... |
ORPHA:263516 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Palatal tremor, Abnormal pyramidal sign, Hypotonia, Generalized hypot... |
ORPHA:363717 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired... |
OMIM:619574 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Ataxia, Babinski sign, Truncal ataxia, Myoclonus, Dystonia, Neonatal hypotonia, Sp... |
OMIM:252011 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Fatiguable weakness of proximal limb musc... |
ORPHA:90117 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Hepatomegaly, Poor head control, Ataxia, Splenomegaly, Babinski sign, Decreas... |
OMIM:252010 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Axial hypotonia, Ataxia, Hypotonia, Falls, Generalized hypotonia, Dystonia, Spasticity |
OMIM:619224 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inability to walk... |
OMIM:611890 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ... |
OMIM:275400 |
| Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Primary Dystonia, Dyt4 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural tremor, Blepharospa... |
ORPHA:98805 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper... |
OMIM:615905 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Axial hypotonia, Severe muscular hypotonia, Growth delay, Choreoathetosis, Dystonia |
OMIM:614932 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Short stature, Increased muscle lipid c... |
ORPHA:324604 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia |
OMIM:619071 |
| Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Gait disturbance, Spasticity |
ORPHA:88619 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Incoordination, Ataxia, Clonus, Hypotonia, Cerebral atrophy, Tetraplegia, Cho... |
OMIM:616034 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Weight loss, Tip-toe g... |
ORPHA:216866 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Intrauterine growth retardation, Generalized dystonia, Short stature, Dysphagia |
OMIM:619025 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Failure to thrive, Anemia, Hepatomegaly |
ORPHA:28 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Aggressive behavior, Babinski sign, Hypotonia, Dysmetria, Dysdiadocho... |
OMIM:618356 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Patent ductus arteriosus, Growth delay, Normochromic anemia, Neutropenia, Letharg... |
OMIM:614857 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Lower limb hypertonia, Increased m... |
ORPHA:2169 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Ataxia, Paraplegia, Lethargy, Failure to thrive |
ORPHA:927 |
| Baralle-Macken Syndrome |
|
Inability to walk, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy |
OMIM:619255 |
| Hypokalemic Periodic Paralysis |
|
Paralysis, Episodic flaccid weakness, Respiratory paralysis, Late-onset proximal muscle weakness,... |
ORPHA:681 |
| Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis, Hypotonia, Generalized hypotonia |
OMIM:300215 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Polymicrogyria, Akinesia |
OMIM:225790 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Parkinsonism, Aggressive behavior |
OMIM:606688 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... |
OMIM:617810 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Hengel-Maroofian-Schols Syndrome |
|
Cerebellar atrophy, Short stature, Inability to walk, Hypotonia, Cerebral atrophy, Tetraplegia, G... |
OMIM:619641 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Hypotonia, Myoclonus |
OMIM:616366 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Megaloblastic anemia, Decreased methylmalonyl-CoA mutase activity, Increased mean... |
OMIM:277410 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hypotonia, Dystonia, Int... |
OMIM:614654 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:609425 |
| Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Distal muscle weakness, Tremor, Leukocytosis, Distal sensory impairm... |
ORPHA:206594 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Babinski sign, Hypotonia, Dysphagia, Hypertonia, Dystonia, Neonatal hypotonia |
OMIM:264470 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Cerebellar atrophy, Dystonia, Inability to walk, Hypotonia, Abnormality of extrapyramidal motor f... |
OMIM:614739 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Unsteady gait, Axial hypotonia, Myoclonus |
OMIM:610090 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Short stature, Hypertonia, Myoclonus, Infantile muscular hypotonia, Inf... |
ORPHA:289266 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Neonatal hypotonia, Abnormal r... |
DECIPHER:45 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Axial hypotonia, Facial hypotonia, Dystonia, Clonus, Hypertonia, Dysphagia, Spasticity, Cerebral ... |
OMIM:615809 |
| Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
| Aicardi-Goutieres Syndrome 3 |
|
Spasticity, Hypotonia, Generalized hypotonia, Dystonia |
OMIM:610329 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... |
ORPHA:329308 |
| Rett Syndrome |
|
Short stature, Gait apraxia, Bruxism, Truncal ataxia, Gait ataxia, Dystonia, Spasticity, Cerebral... |
OMIM:312750 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Progressive external ophthalmoplegia |
ORPHA:254857 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Fasciculations, Difficulty walking |
OMIM:615575 |
| Hijazi-Reis Syndrome |
|
Lower limb spasticity, Postnatal growth retardation, Hypotonia, Ankle clonus, Gait disturbance, A... |
OMIM:301094 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619301 |
| 16P11.2P12.2 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Dystonia |
ORPHA:261204 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Short stature, Postnatal growth retardation, Hypotonia, Decreased circulating total IgM, Neurodeg... |
OMIM:620210 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Diffuse hepatic steatosis, Failure to thrive in infancy, Progressive distal m... |
ORPHA:746 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Short stature, Corpus callos... |
OMIM:601162 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Generalized hypotonia, Abnormal repetitive mannerisms, Attention deficit hyperact... |
OMIM:618906 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Inability to walk,... |
OMIM:619580 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Cerebral atrophy, Hyperkinetic movements, Difficulty walking, Truncal ataxia, Infantile m... |
ORPHA:369847 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Axial hypotonia, Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Babi... |
OMIM:614924 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dysphagia, S... |
OMIM:617664 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Dystonia |
OMIM:619157 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Axial hypotonia, Oral-pharyngeal dysphagia, Cerebral atrophy, Appendicular hy... |
OMIM:618065 |
| Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Gait disturbance, Sp... |
ORPHA:909 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Axial hypotonia, Short stature, Postural tremor, Ataxia, Babinski sign, Hypot... |
OMIM:301072 |
| Alexander Disease Type Ii |
|
Ataxia, Rigidity, Palatal tremor, Babinski sign, Dysphagia, Spastic paraparesis, Spasticity, Cerv... |
ORPHA:363722 |
| Rasmussen Subacute Encephalitis |
|
Hyperactivity, Involuntary movements, Hemidystonia, Inability to walk, Hemiparesis, Subcortical c... |
ORPHA:1929 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Growth... |
OMIM:616271 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy, Fasciculations |
ORPHA:324581 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Myoclonus, Intractable, Neonatal |
|
Chorea, Hypotonia, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation |
OMIM:617235 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Depression, Hemiparesis, Abnormality of the liver, Spasticity, Intention tremor |
OMIM:614307 |
| Fetal Akinesia Syndrome, X-Linked |
|
Hypokinesia |
OMIM:300073 |
| Developmental And Epileptic Encephalopathy 29 |
|
Axial hypotonia, Short stature, Chorea, Cerebral atrophy, Blepharospasm, Limb dystonia, Intrauter... |
OMIM:616339 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Failure to thrive, Ataxia |
OMIM:237300 |
| Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Agitation, Disinhibition, Myoclonus, Apraxia, Oculomotor apraxi... |
ORPHA:1020 |
| Hereditary Central Diabetes Insipidus |
|
Growth delay, Lethargy, Weight loss |
ORPHA:30925 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance, Muscle weakness |
ORPHA:99014 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia, Short stature |
ORPHA:1368 |
| Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Cerebellar atrophy, Clonus, Babinski sign, Dysphagia, Progressive cerebellar ataxia, Dystonia |
OMIM:618868 |
| Narp Syndrome |
|
Ataxia, Short stature, Babinski sign, Progressive gait ataxia, Corticospinal tract atrophy, Myocl... |
ORPHA:644 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Impaired pain sensation... |
ORPHA:101085 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
| Leigh Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Involuntary movements, Chorea, Upper motor neuron dysfuncti... |
ORPHA:506 |
| Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
| Harel-Yoon Syndrome |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Inability to walk, Hypotonia, Dystonia, Spasticity |
OMIM:617183 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Short stature, Parkinsonism, Bipolar aff... |
ORPHA:3077 |
| Medulloblastoma |
|
Total ophthalmoplegia, Ataxia, Cerebellar calcifications, Dysmetria, Progressive cerebellar ataxi... |
ORPHA:616 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Abnormal mitochondrial shape, Patent ductus arteriosus, Decreased activity of mitoc... |
ORPHA:17 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Severe muscular hypotonia, Chorea, Hypotonia, Cerebral atrophy, Opisthotonus,... |
OMIM:616672 |
| Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia |
OMIM:619302 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Lethargy, Congenital hepatic fibrosis, Muscle weakness |
ORPHA:79230 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Axial hypotonia, Ataxia, Inability to walk, Dysmetria, Dystonia, Oculomotor apraxia, Spasticity, ... |
OMIM:618087 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Developmental And Epileptic Encephalopathy 41 |
|
Inability to walk, Babinski sign, Tetraparesis, Lethargy, Spasticity |
OMIM:617105 |
| Poliomyelitis |
|
Bulbar palsy, Paralysis, Inability to walk, Paraparesis, Upper limb muscle weakness, Hyperkinetic... |
ORPHA:2912 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Babinski sign, Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia |
OMIM:252650 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Short stature, Repetitive compulsive behavior, Hypertonia, Compuls... |
ORPHA:352490 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus, Aggressive behavior |
OMIM:618357 |
| Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance, Muscle weakness |
OMIM:603472 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Short stature, Tremor, Splenomegaly, Muscle weakness |
ORPHA:87876 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Short stature, Aggressive behavior, Tremor, Attention deficit hyperactivity disord... |
OMIM:618342 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inabil... |
OMIM:617988 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Axial hypotonia, Hypotonia, Hypertonia, Neurodegeneration, Decerebrate ... |
OMIM:245200 |
| Alg11-Cdg |
|
Axial hypotonia, Ataxia, Cerebral atrophy, Opisthotonus, Hypertonia, Infantile muscular hypotonia... |
ORPHA:280071 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Obesity, Sparse body hair |
ORPHA:85274 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Axial hypotonia, Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Sp... |
OMIM:618451 |
| Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
| Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Large for gestational age, Diffuse pancreatic islet hyperplasia, Lethargy, Muscle w... |
ORPHA:276580 |
| 3-Methylglutaconic Aciduria, Type V |
|
Ataxia, Postnatal growth retardation, Cryptorchidism, Microvesicular hepatic steatosis, Normochro... |
OMIM:610198 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
| Japanese Encephalitis |
|
Neutrophilia, Weakness due to upper motor neuron dysfunction, Dystonia, Facial palsy, Paralysis, ... |
ORPHA:79139 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Decreased mitochondrial number, Respira... |
ORPHA:352447 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Hypo... |
OMIM:252160 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
| Ane Syndrome |
|
Motor neuron atrophy, Short stature, Delayed puberty |
ORPHA:157954 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Aggressive behavior, Tremor, Hypotonia, Myoclonus, Dysphagia, Cerebral cortical atrophy |
ORPHA:97229 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Tremor, Decreased methylmalonyl-CoA mutase activity, Anemia, Neutrope... |
OMIM:251100 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
| Maple Syrup Urine Disease |
|
Lethargy, Hypertonia, Ataxia, Pancreatitis |
OMIM:248600 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inabilit... |
ORPHA:168491 |
| Episodic Ataxia, Type 2 |
|
Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia, Cerebellar vermis atrophy |
OMIM:108500 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ... |
OMIM:609033 |
| Dpm1-Cdg |
|
Ataxia, Muscular dystrophy, Camptodactyly, Knee flexion contracture |
ORPHA:79322 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Proximal muscle weakness, Microvesicular hepatic steatosis, Lethargy, Failure to th... |
OMIM:212140 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Hypotonia, Cerebral atrophy, Self-injurious behavior, Generalized hypotonia, Dystonia, Recurrent ... |
OMIM:617268 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Somatic sensory dysfunction, Steppage gait, Fasciculations, Impaired distal tactile sensation |
OMIM:600882 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Incoordination, Small for gestational age, Short stature, Megaloblast... |
OMIM:277380 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Myoclonus, Aggressive behavior |
ORPHA:2382 |
| Filippi Syndrome |
|
Dystonia, Ventricular septal defect, Cryptorchidism, Decreased body weight, Sparse hair, Frontal ... |
OMIM:272440 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia |
OMIM:313200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Decreased activity of mitochondrial complex I, Lethargy |
OMIM:618232 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Abnormal posturing, Dystonia |
OMIM:304700 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Decreased pyruvate ... |
OMIM:229300 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Pallidal degeneration, Dystonia, Parkinsonism, Impulsivity, Rigidity, Slurred spee... |
ORPHA:157850 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Dysphagia, Tetraparesis, Generalized hypotonia, Dystonia |
OMIM:618230 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Simplified gyral pattern, Decreased activity of mitochondrial complex ... |
OMIM:618253 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Trichorrhexis nodosa, Head titubation, Babinski sign, Spastic diplegia, Ankle clo... |
OMIM:619691 |
| Isovaleric Acidemia |
|
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia |
OMIM:243500 |
| Liang-Wang Syndrome |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Cerebral atrophy, Dystonia |
OMIM:618729 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Sparse body hair, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Ataxia, Abnormal repetitive mannerisms, Hypotonia, Growth delay, Se... |
ORPHA:228402 |
| Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Short stature, Growth delay, Hypoalbuminemia, Intrauterine growth retardation... |
OMIM:618347 |
| Lipoyltransferase 1 Deficiency |
|
Cerebellar atrophy, Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormality of extrapyramid... |
OMIM:616299 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Difficulty walking, Dystonia |
OMIM:616684 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Sparse hair, Widow's peak, Thick eyebrow |
OMIM:606242 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Short stature, Ataxia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia, Self-mu... |
ORPHA:52503 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypotonia, Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia |
OMIM:618222 |
| Central Diabetes Insipidus |
|
Lethargy, Failure to thrive, Depression, Weight loss |
ORPHA:178029 |
| Partington Syndrome |
|
Limb dystonia, Lower limb spasticity, Focal dystonia |
OMIM:309510 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
| Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Hypotonia, Dysmetria, Myoclonus |
OMIM:618251 |
| Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Cerebral atrophy, Dystonia, Intrauterine growth retardation, Spasticity |
OMIM:610333 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Elevated circulating creatine kinase concentration, Clonus, Oral-pharyngeal dysphagia, Po... |
OMIM:616878 |
| Shukla-Vernon Syndrome |
|
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Hypotonia, Attention defi... |
OMIM:301029 |
| Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls, Hypokinesia |
OMIM:149400 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Poor head control, Microvesicular hepatic steatosis, Macrovesicular hepatic steatos... |
OMIM:615595 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ataxia, Thrombocytosis, Spastic hemiparesis, Leukocytosis, Jaun... |
ORPHA:20 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Poor motor coordination, Parkinsonism, Cerebral atrophy, Clumsiness, Poor fin... |
ORPHA:79264 |
| Peho-Like Syndrome |
|
Cerebellar atrophy, Neonatal hypotonia, Hypotonia, Myoclonus |
OMIM:617507 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hypotonia, Gait ataxia, Hyperkinetic movements, Loss o... |
OMIM:620089 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Dec... |
ORPHA:2985 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, External ophthalmoplegia, Abnormal pyramidal sign, Lethargy, Failure to thrive |
OMIM:201470 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty walking, Dystonia, Spastic... |
OMIM:617807 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
| Combined Oxidative Phosphorylation Deficiency 35 |
|
Spasticity, Generalized hypotonia, Cerebral atrophy, Dystonia |
OMIM:617873 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Muscular dystrophy |
OMIM:615181 |
| Pelizaeus-Merzbacher Disease |
|
Short stature, Ataxia, Hypotonia, Choreoathetosis, Gait disturbance, Dystonia, Spasticity, Cerebr... |
ORPHA:702 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Congenital muscular dystrophy |
ORPHA:324416 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kinetic tremor, Cryptorchidism, Fine hair, Gait ataxia, Truncal ataxia... |
OMIM:616817 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Axial hypotonia, Spastic tetraparesis, Hypotonia, Dystonia, Cerebral cortical atrophy |
OMIM:617668 |
| Ogden Syndrome |
|
Torticollis, Postnatal growth retardation, Cryptorchidism, Hypertonia, Shuffling gait, Lethargy |
ORPHA:276432 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Hypotonia, Cerebral a... |
OMIM:203700 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Chorea, Hypotonia, Myoclonus, Attention deficit hyperactivity diso... |
OMIM:617600 |
| Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Muscle weakness, Periodic paralysis |
ORPHA:757 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Proximal muscle weakness, Decreased activity of mitochondrial complex I, Failure to thrive, Mitoc... |
OMIM:618250 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Hemiparesis, Gait disturbance, Spastic paraparesis, Lethargy, Fail... |
ORPHA:395 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Generalized muscle weakness, Hand tremor, Periodic paralysis |
OMIM:609153 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:237310 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Mild postnatal growth retardation, Ataxia, Hypotonia, Abnormal temper tantrums, Ab... |
ORPHA:530983 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Tethered cord, Short stature, Impulsivity, Aggressive behavior, Attention deficit ... |
OMIM:620141 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Hypotonia, Truncal ataxia, H... |
OMIM:300243 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Oral-pharyngeal dysphagia, Postnatal growth retardation, Tremor, Spastic diplegia, Generalized hy... |
ORPHA:480907 |
| Scrub Typhus |
|
Splenomegaly, Lethargy, Tremor, Lymphadenopathy |
ORPHA:83317 |
| Crigler-Najjar Syndrome |
|
Lethargy, Jaundice, Abnormality of the liver, Ophthalmoparesis |
ORPHA:205 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Short stature, Tremor, Inability to walk, Limb ataxia, Distal sensory impairment, Dysmetr... |
OMIM:617675 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Te... |
OMIM:616586 |
| X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Spastic paraplegia, Distal sensory impairment, Paresthesia, Tetraparesis, Gait disturbance, Abnor... |
OMIM:263570 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis |
OMIM:260540 |
| Hyperekplexia 4 |
|
Hypertonia, Myoclonus, Cerebral atrophy |
OMIM:618011 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Severe muscular hypotonia, Elevated circulating creatine kinase concentration, Generalized hypoto... |
OMIM:615042 |
| Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Pain insensitivity, Facial hypotonia, Involuntary movements, Elevated circulating a... |
OMIM:615273 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Proportionate short stature, Hepatic necrosis, Decreased circulating carnitine concentration, Dec... |
ORPHA:71212 |
| Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... |
ORPHA:228360 |
| Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:230800 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Apathy, Cirrhos... |
ORPHA:465508 |
| Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Temporal cortical atrophy, As... |
ORPHA:100070 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Hypotonia, Occipital cortical atrophy, Myoclonus, Abnormal repetitive mannerisms |
ORPHA:411986 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive |
OMIM:619556 |
| Hyperlysinuria With Hyperammonemia |
|
Growth delay, Lethargy |
OMIM:238750 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Axial hypotonia, Inability to walk, Babinski sign, Cerebral atrophy, Hyperkinetic movements, Spas... |
OMIM:616420 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Abnormal... |
OMIM:252150 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... |
OMIM:254090 |
| Intermediate Nemaline Myopathy |
|
Hypokinesia, Severe muscular hypotonia, Difficulty walking, Dysphagia |
ORPHA:171433 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... |
ORPHA:297 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Inability to walk, Chorea, Hypotonia, Generalized hypotonia, Dyspha... |
ORPHA:70472 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Axial hypotonia, Ataxia, Broad-based gait, Tongue thrusting, Pica, Hypotonia, Unst... |
OMIM:617865 |
| Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Splenomegaly, Lethargy, Diffuse cerebellar atrophy |
OMIM:253260 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Abdominal wall muscle weakness, Neck flexor weakness, Upper limb ... |
ORPHA:263297 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Lethargy, Small for gestational age, Large for gestational age |
ORPHA:324575 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Pallidal degeneration, Dystonia, Spasticity, Dysphagia |
OMIM:607236 |
| Microtriplication 11Q24.1 |
|
Speech apraxia, Short stature, Hyperkinetic movements, Generalized hypotonia, Bruxism |
ORPHA:289522 |
| Snakebite Envenomation |
|
Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
| Porphyria, Acute Intermittent |
|
Paralysis, Depression, Respiratory paralysis, Paresthesia, Hepatocellular carcinoma, Muscle weakness |
OMIM:176000 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Neonatal hypotonia, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Tetraparesis |
ORPHA:85277 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Diffuse pancreatic islet hyperplasia, Lethargy, Focal pa... |
ORPHA:276575 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Small for gestational age, Synophrys, Hypertonia, Sparse hair, Spasticity, Thic... |
OMIM:611091 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia |
OMIM:619780 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal c... |
ORPHA:139396 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tetrapl... |
ORPHA:496641 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Speech apraxia, Hepatomegaly, Clonus, Poor coordination, Abnormal p... |
ORPHA:415 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Absent circulating B cells |
OMIM:620282 |
| Gaucher Disease Type 2 |
|
Spasticity, Dystonia, Dysphagia |
ORPHA:77260 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Lethargy, Diffuse pancreatic islet hyperplasia, Large for gestational age |
ORPHA:276556 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Hypotonia, Brain atrophy, Myoclonus |
OMIM:617290 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy |
ORPHA:1344 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Myoclonus, Spasticity, Cerebral cortical atrophy |
OMIM:618201 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar atrophy, Intrahepatic biliary dysgenesis, Hepatomegaly, Small for gestational age, Cry... |
OMIM:614866 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Leukopenia, Neutropenia, Lethargy, Failure to thrive, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Inability to walk, Elevated circulating creatine kinase concentration, Fasciculations |
ORPHA:206546 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Periodic paralysis |
OMIM:613345 |
| Birk-Landau-Perez Syndrome |
|
Axial hypotonia, Facial hypotonia, Dystonia, Limb ataxia, Growth delay, Choreoathetosis, Appendic... |
OMIM:617595 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Anemia |
ORPHA:100024 |
| Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
| Oculopharyngodistal Myopathy 3 |
|
Ataxia, Tremor, Ophthalmoplegia, Neck muscle weakness, Limb muscle weakness |
OMIM:619473 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Increased cerebral lipofuscin, Myoclonus, Intention tremor |
OMIM:610539 |
| Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Facial hypotonia, Inability to walk, Chorea, Oculomotor apraxia, Cerebral atr... |
ORPHA:404454 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Gait ataxia, Reduced hair sulf... |
OMIM:300953 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Muscle weakness, Periodic paralysis |
OMIM:170400 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Tremor, Increased body weight, Pancreatic islet-cell hyp... |
ORPHA:263455 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Spasticity, Chorea, Generalized hypotonia, Dystonia |
OMIM:613970 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakness, Hypertonia, Foot ... |
ORPHA:466768 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Axial hypotonia, Facial hypotonia, Ataxia, Rigidity, R... |
OMIM:300260 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Decreased methylmalonyl-CoA mutase activity, Anemia, Neutropenia, Let... |
OMIM:251110 |
| Thyroid Dyshormonogenesis 1 |
|
Growth delay, Lethargy, Goiter |
OMIM:274400 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Periodic paralysis, Muscle weakness, Weight loss |
OMIM:188580 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Distal muscle weakness, Frequent falls, Impaired pain sensation, Inability to... |
ORPHA:99949 |
| Niemann-Pick Disease, Type C1 |
|
Ataxia, Hypotonia, Dysphagia, Gait ataxia, Generalized hypotonia, Dystonia, Cataplexy, Spasticity... |
OMIM:257220 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Short stature, Proximal muscle weakness, Tremor, Gowers sign, Dysmet... |
ORPHA:502423 |
| Myoclonic Epilepsy Of Infancy |
|
Poor motor coordination, Aggressive behavior, Myoclonus, Poor hand-eye coordination, Attention de... |
ORPHA:86909 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Hypotonia, Truncal ataxia, Growth delay, Generalized hypotonia, Dystonia, Intention tremor |
OMIM:614407 |
| Pontocerebellar Hypoplasia Type 4 |
|
Hypertonia, Myoclonus |
ORPHA:166063 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spastic hemiparesis, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
OMIM:619616 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Axial hypotonia, Short stature, Aggressive behavior, Hypotonia,... |
OMIM:300352 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Leukocytosis, Depression, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, Dystonia, Cerebral atrophy, Infantile muscular hypotonia |
ORPHA:457205 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Ataxia, Unsteady gait, Neurodege... |
OMIM:615919 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syringomyelia, Cerebral cortical atrophy, Spastic tetraparesis, Dystonia |
ORPHA:404451 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Hypotonia, Cerebral atrophy, Opisthotonus, Growth de... |
ORPHA:445038 |
| Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
| Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
| Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Babinski sign, Abnormal pyramidal... |
OMIM:617339 |
| Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Ophthalmoparesis, Episodic flaccid weakness, Hyp... |
ORPHA:682 |
| Glutathionuria |
|
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Appendicular spasticity, Axial hypotonia, Short stature, Cerebral atrophy, Dystonia |
OMIM:617762 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
| Lesch-Nyhan Syndrome |
|
Dystonia, Short stature, Hypotonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnor... |
OMIM:300322 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Writer's cramp, Elevated circulating creatine kinase concentration, Impaired vibration sensation ... |
ORPHA:324442 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Dystonia, Ataxia, Short stature, Tremor, Inability to walk, Slurred speech, Choreoat... |
OMIM:208900 |
| Gerstmann-Straussler-Scheinker Syndrome |
|
Dysesthesia, Gait ataxia, Abnormality of extrapyramidal motor function, Paresthesia, Limb myoclon... |
ORPHA:356 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Hypotonia, Growth delay, Head tremor, Abnormal repetitive mannerisms, Cerebral cortical a... |
OMIM:619428 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... |
ORPHA:1818 |
| Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Dystonia, Ataxia, Repetitive compulsive behavior, Growth delay, Atrophy/De... |
ORPHA:66634 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thrombocytopenia,... |
ORPHA:2072 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion contracture, Macr... |
ORPHA:258 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficulty walking, Oc... |
ORPHA:529665 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Proximal muscle weakness in upper limbs, Short stature, Distal sensory impairment, Diaphragmatic ... |
OMIM:606071 |
| Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment |
ORPHA:84142 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Growth delay, A... |
OMIM:619121 |
| Partington Syndrome |
|
Lower limb spasticity, Gait disturbance, Limb dystonia |
ORPHA:94083 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Failure to thrive |
OMIM:616353 |
| Citrullinemia Type Ii |
|
Hepatomegaly, Tremor, Pancreatitis, Mania, Hepatic fibrosis, Hepatocellular carcinoma, Lethargy, ... |
ORPHA:247585 |
| Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Infantile axial hypotonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoa... |
ORPHA:2524 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Ataxia, Growth delay, Dystonia, Intrauterine growth retardation, Spasticity |
OMIM:617341 |
| Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Fasciculations, Brain ... |
OMIM:620327 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Atrial septal def... |
ORPHA:89844 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Hypokinesia |
OMIM:249650 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Tremor, Decreased methylmalonyl-CoA mutase activity, Abnormality of extrapy... |
OMIM:277400 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Short stature, Tremor, Defective DNA repair after ultraviolet radiation damage, Decreased... |
OMIM:278760 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Myoclonus, Dystonia |
ORPHA:163921 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Clumsiness, Growth delay, Depression, Prolonged neonatal jaundice, Macr... |
ORPHA:90674 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Tremor, Growth delay, Intrauterine growth retardation, Failure to thrive, Muscle w... |
OMIM:617744 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Vocal cord paralysis, Distal ... |
ORPHA:99956 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Short stature, Cerebral atrophy, Myoclonus, Generalized hypotonia |
OMIM:619060 |
| Foix-Alajouanine Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Distal lower limb amyotrophy, Somatic sensory... |
ORPHA:79093 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Axonal degeneration, Diaphragmatic paralysis, Hypotonia, Frequent falls, Craniofacial dystonia |
OMIM:620011 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Short stature, Ataxia, Aggressive behavior, Hypotonia, Self-injurious behavior, Hypertonia, Gait ... |
OMIM:300986 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Ataxia, Impulsivity, Aggressive behavior, Hypotonia, Dystonia, Frontal cortical at... |
OMIM:616977 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Lethargy, Failure to thrive, Opisthotonus |
OMIM:210200 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Dystonia, Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia... |
OMIM:617804 |
| Gitelman Syndrome |
|
Ataxia, Paralysis, Generalized muscle weakness, Growth delay, Paresthesia, Delayed puberty, Failu... |
OMIM:263800 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Incoordination, Ataxia, Elevated circulating creatine kinase concentration, Clonus, Involuntary m... |
ORPHA:480864 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia |
OMIM:607682 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Depression, Gr... |
ORPHA:99832 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Weight loss |
OMIM:143880 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Elevated hemoglobin A1c, Ataxia, Postnatal growth retardation, Dystonia |
OMIM:616113 |
| Fanconi Anemia, Complementation Group S |
|
Ataxia, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair, ... |
OMIM:617883 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Clumsiness, Abnormal circulating creatine kinase... |
ORPHA:521411 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Short stature, Ataxia, Aggressive beh... |
OMIM:617799 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Foot dorsiflexor weakness, Distal muscle weakness, Cachexia, External ophthalmoplegia, Weight los... |
ORPHA:298 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Axonal degeneration, Poor coordination, Abnormal muscle tone, Neurodegeneration, Myoclonic spasms... |
ORPHA:478029 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
| Sialidosis Type 1 |
|
Short stature, Ataxia, Tremor, Splenomegaly, Slurred speech, Gait disturbance, Myoclonus, Muscle ... |
ORPHA:812 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature, Aggressive behavior |
OMIM:615541 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Elevated circulating creatine kinase concen... |
OMIM:607426 |
| Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Severe muscular hypotonia, Ataxia, Poor motor coordination, Trem... |
ORPHA:25 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Axial hypotonia, Choreoathetosis, Lower limb hypertonia, Generalized hypotonia, Limb dystonia, In... |
ORPHA:319514 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Short stature, Poor coordination, Abnormal pyrami... |
OMIM:618891 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Limb muscle weakness, Paralysis |
OMIM:612300 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Tremor, Periodic paralysis, Weight loss |
OMIM:613239 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Inap... |
ORPHA:98794 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... |
OMIM:300400 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Distal muscle weakness, Proximal muscle weakness, Limb muscle weakness, Distal sensory impairment... |
OMIM:601152 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail |
ORPHA:2251 |
| D-Glyceric Aciduria |
|
Axial hypotonia, Tongue thrusting, Spastic tetraplegia, Hypotonia, Opisthotonus, Growth delay, My... |
OMIM:220120 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Axial hypotonia, Dysphagia, Myoclonus, Dystonia, Cerebral cortical atrophy |
OMIM:617669 |
| Renal Hypoplasia, Bilateral |
|
Small for gestational age, Short stature, Cryptorchidism, Growth delay, Lethargy, Failure to thri... |
ORPHA:97362 |
| Secondary Syringomyelia |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Sensory ataxia, ... |
ORPHA:99857 |
| D-Glyceric Aciduria |
|
Chorea, Myoclonus, Brain atrophy, Infantile muscular hypotonia, Spasticity |
ORPHA:941 |
| Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
| Glioblastoma |
|
Muscle weakness, Paralysis |
ORPHA:360 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Hirsutism |
OMIM:616819 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Facial hypotonia, Impaired pain sensation, Hypotonia, Gait ataxia, Brain atrophy,... |
OMIM:616579 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Lethargy, Muscle weakness, Decreased circulating carnitine concentration |
ORPHA:159 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow |
ORPHA:79133 |
| Gaucher Disease, Type Iii |
|
Short stature, Myoclonus, Ataxia, Spastic paraparesis |
OMIM:231000 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Cerebellar atrophy, Inability to walk, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dyspha... |
OMIM:617802 |
| Thyrocerebrorenal Syndrome |
|
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Generalized hypotonia, Attention deficit hyperactivit... |
OMIM:610042 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Lethargy, Hepatic steatosis, Muscle w... |
OMIM:201475 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Lethargy, Hemiplegia/hemiparesis |
ORPHA:156 |
| Saccharopinuria |
|
Short stature, Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Cere... |
ORPHA:572798 |
| Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagia, Loss of... |
OMIM:607371 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hypotonia, Abnormality of extrapyramidal motor f... |
ORPHA:79279 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Short stature, Chaddock reflex, Acanthocytosis, Abnormal er... |
ORPHA:96180 |
| Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Incoordination, Short stature, Ataxia, Involuntary movements, Abnormal eating beha... |
ORPHA:209905 |
| Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Cirrhosis, Lethargy, Failure to thrive |
OMIM:215700 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... |
ORPHA:370959 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Patent ductus arteriosus, Cerebellar hypoplasia, Lethargy, Thrombocytopenia |
OMIM:617397 |
| Mirage Syndrome |
|
Short stature, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Paraplegia, Leukopenia... |
OMIM:617053 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Inability to walk, Hypotonia, Gliosis, Dysphagia |
ORPHA:26791 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Spasticity, Generalized dystonia, Cerebral atrophy |
OMIM:618235 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Prolonged neonatal jaundice |
ORPHA:95717 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Lower limb spasticity, Involuntary movements, Corpus callosum atrophy, Babinski sign, Leg dystoni... |
ORPHA:565624 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Self-injurious behavior, Gliosis, Short stature, Hypotonia |
ORPHA:261652 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombo... |
OMIM:613179 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Weight loss, Abnormality of extrapyramidal motor function, Apathy |
ORPHA:178509 |
| Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus, Dysphagia |
ORPHA:324708 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Decreased body weight |
OMIM:618724 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms, Generalized hypotonia, Speech apraxia |
ORPHA:529965 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Abnormal central motor function, Ataxia, Cerebral palsy, Autoimmune ... |
ORPHA:760 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive, Fine hair |
ORPHA:2118 |
| Multifocal Atrial Tachycardia |
|
Cryptorchidism, Lethargy |
ORPHA:3282 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Flexion contracture, Muscular dystrophy |
OMIM:615249 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Athetosis, Generalized hypotonia, Bruxism, Neonatal hypotonia... |
OMIM:613454 |
| Sneddon Syndrome |
|
Facial palsy, Tremor, Impaired distal tactile sensation, Hemiplegia, Lymphopenia |
OMIM:182410 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Absent facial hair, Obesity, Mitral valve prolapse, Low posterior hairline, A... |
ORPHA:2183 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... |
ORPHA:431361 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Dystonia, Spasticity |
OMIM:619286 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Axial hypotonia, Unsteady gait, Hypertonia, Myoclonus, Global brain atrophy |
ORPHA:79096 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Rhizomelia, Cryptorchidism, Patent ductus arteriosus, Lethargy, Failur... |
OMIM:607143 |
| Metachromatic Leukodystrophy |
|
Ataxia, Chorea, Babinski sign, Hypotonia, Spastic tetraplegia, Tetraplegia, Gait disturbance, Gen... |
OMIM:250100 |
| German Syndrome |
|
Abnormal eyebrow morphology, Cryptorchidism, Synophrys, Abnormal cardiac septum morphology, Tetra... |
ORPHA:2077 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Postnatal growth retardation, Poor coordination, Hypotonia, P... |
OMIM:620242 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair |
OMIM:618625 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Cerebellar atrophy, Involuntary movements, Babinski sign, Cerebral atrophy, Ankle clonus, Dystoni... |
OMIM:618397 |
| Adrenal Hypoplasia, Congenital |
|
Muscular dystrophy, Delayed puberty |
OMIM:300200 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... |
ORPHA:2930 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Dystonia, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkine... |
ORPHA:522077 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Postnatal growth retardation, Inability to walk, Slurred speech, Hypotonia, Athetosis, Dy... |
ORPHA:357058 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Anterior pituitary hypoplasia, Postnatal growth retardation, Abnormal pyramidal sign, Pro... |
ORPHA:453533 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Hypotonia, Compulsive behaviors, S... |
OMIM:618430 |
| Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus, Generalized hypotonia |
OMIM:617391 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hemiparesis, Lethargy, Hila... |
OMIM:620233 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Infantile muscular hypotonia, Self-injurious behavior, Brain atrophy, Limb dys... |
ORPHA:457351 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Uncombable hair, Cirrho... |
OMIM:614602 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Proportionate short stature, Hypotonia, Self-injurious behavior, Attention deficit hyperactivity ... |
OMIM:617044 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Axial hypotonia, Vocal cord paralysis, Dysphagia, Myoclonus, Dystonia, Spasticity, Cerebral corti... |
ORPHA:500144 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Axial hypotonia |
OMIM:619877 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Growth delay, Reduced number of intrahepatic bile ducts, Neutropenia, Letha... |
ORPHA:79284 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells, Generalized hypotonia |
OMIM:271225 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Inability to walk, Poor gross motor coordination, Hypotonia, Cerebral atrophy, Dystonia |
ORPHA:439218 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Leukocytosis, Peritonitis, Neutropenia, Lethargy, Thrombocytopenia |
ORPHA:391673 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Failure to thrive, Short stature |
ORPHA:2089 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Axial hypotonia, Ataxia, Aggressive behavior, Postnatal gro... |
OMIM:300912 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Generalized muscle weakness, Cholestasis, Lethargy, Failure to thrive |
OMIM:609015 |
| Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Ventricular septal defect, Tremor, Splenomegaly, Patent ductus arte... |
ORPHA:354 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... |
OMIM:224750 |
| Oxoglutaric Aciduria |
|
Ataxia, Short stature, Abnormality of Krebs cycle metabolism, Hypertonia, Abnormal salivary gland... |
ORPHA:31 |
| Congenital Myopathy 15 |
|
Waddling gait, Vocal cord paralysis, Muscle weakness |
OMIM:620161 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Short stature, Impaired pain sensation, Self hugging, Head-banging, Generalized hy... |
OMIM:182290 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, ... |
OMIM:254900 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal cerebe... |
ORPHA:68 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
| Amyotrophy, Monomelic |
|
Cervical spinal cord atrophy, Fasciculations |
OMIM:602440 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Ataxia, Tremor, Patent ductus arteriosus, Decreased activity of mitochondrial compl... |
OMIM:610505 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Tongue fasciculations, Myoclonus, Lethargy, Hepatic steatosis |
OMIM:614922 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Axonal degeneration, Generalized hypotonia, Dystonia, Spasticity, Global brai... |
OMIM:616811 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Cog8-Cdg |
|
Cerebellar atrophy, Ataxia, Atrophy/Degeneration affecting the brainstem, Myoclonus, Infantile mu... |
ORPHA:95428 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Axial hypotonia, Short stature, Cerebral atrophy, Limb dystonia |
OMIM:620269 |
| Developmental And Epileptic Encephalopathy 84 |
|
Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity |
OMIM:618792 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Ataxia, Aplastic anemia, Thrombocytopenia, Nail pits, Hepatic necrosis, Pr... |
OMIM:127550 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Axial hypotonia, Dystonia, Corpus callosum atrophy, Cerebral atrophy, General... |
OMIM:616875 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Abnormal hair whorl, Cryptorchidism, Abnormal heart morphology, Sparse hair |
ORPHA:2872 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Distal muscle weakness, Parkinsonism, Proximal muscle weakness, Tremor, Depression, Facial dipleg... |
ORPHA:329478 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... |
ORPHA:199299 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Abnormality of mitochondrial metabolis... |
ORPHA:314404 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Short stature, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hypertoni... |
OMIM:615851 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Episodic ataxia, Lethargy, Failure to thrive, Ataxia |
OMIM:311250 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Cryptorchidism, Obesity, Abdominal obesity, Small pituitary gland... |
ORPHA:398079 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Abnormal activity of mitochondrial respi... |
OMIM:617186 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Growth delay, Muscular dystrophy |
ORPHA:88618 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Ataxia, Cryptorchidism, Dilated cardiomyopathy, Simplified gyral pattern, Dysme... |
OMIM:616541 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Cimdag Syndrome |
|
Ataxia, Chorea, Hypotonia, Cerebral atrophy, Pontocerebellar atrophy, Dystonia, Spasticity |
OMIM:619273 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Dengue Fever |
|
Lethargy, Thrombocytopenia, Leukopenia, Hepatomegaly |
ORPHA:99828 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... |
ORPHA:72 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Hypotonia |
OMIM:613886 |
| Mcleod Syndrome |
|
Elevated circulating creatine kinase concentration, Chorea, Compulsive behaviors, Dystonia, Reduc... |
OMIM:300842 |
| Encephalitis Lethargica |
|
Tremor, Lethargy, Upper limb muscle weakness, Parkinsonism |
ORPHA:83600 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Hypotonia, Growth delay, Self-injurious behavior, Intrauterine growth retardation, Abnorm... |
ORPHA:238750 |
| Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Hypotonia, Opisthotonus, Myoclonus, Gener... |
OMIM:620352 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes |
OMIM:227260 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Foot dorsiflexor weakness, Ataxia, Abnor... |
OMIM:214500 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Long eye... |
ORPHA:3051 |
| Aicardi-Goutieres Syndrome 1 |
|
Axial hypotonia, Short stature, Inability to walk, Cerebral atrophy, Abnormality of extrapyramida... |
OMIM:225750 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Aggressive behavior, Hypotonia, Attention deficit hyperactivity disorder, Mild sho... |
OMIM:620292 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Pilarowski-Bjornsson Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms, Hypotonia, Speech apraxia |
OMIM:617682 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Small for gestational age, Synophrys, Low anterior hairline, Fine hair, Decreas... |
ORPHA:391408 |
| Alg3-Cdg |
|
Spastic tetraparesis, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Brain atrophy, Dystonia |
ORPHA:79321 |
| Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... |
ORPHA:646 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Spastic tetraplegia, Neurodegeneration, Inappropriate laughter, Difficulty walk... |
OMIM:618476 |
| Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus |
ORPHA:352582 |
| Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy |
ORPHA:899 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Dystonia, Ataxia, Tremor, Thrombocytopenia, Abnormal pyramidal sign, Fine hair, Premature graying... |
OMIM:612199 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... |
OMIM:613327 |
| Wieacker-Wolff Syndrome |
|
Short stature, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Oculomotor apraxia, ... |
OMIM:314580 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Megaloblastic anemia, Jaundice, Growth delay, Poor fine motor coordination, Neutropenia, ... |
ORPHA:79282 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Muscle wea... |
ORPHA:713 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Sparse hair |
OMIM:619320 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:600649 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bone marrow hypoc... |
OMIM:301078 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Babinski sign, Gait ataxia, Clumsiness, Progressive gait ataxia, Tip-toe gait, Decerebrate rigidi... |
ORPHA:309256 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
| Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Hypotonia, Truncal ataxia, Dystonia |
ORPHA:88639 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Inability to walk, Hypotonia, Stereotypic... |
OMIM:619229 |
| Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Ophthalmoparesis, Episodic flaccid weakness... |
ORPHA:79102 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Appendicular spasticity, Cerebral palsy, Simplified gyral pattern, Sparse hair, Failure to thrive |
OMIM:620001 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia |
OMIM:618048 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla... |
ORPHA:202 |
| Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus |
OMIM:274240 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Impaired temperature sensation, Cryptorchidism, Increased body weight, Abdominal o... |
ORPHA:398069 |
| Glycerol Kinase Deficiency |
|
Short stature, Growth delay, Myopathy, Muscular dystrophy, Lethargy |
OMIM:307030 |
| Ritscher-Schinzel Syndrome 4 |
|
Short stature, Ataxia, Impulsivity, Aggressive behavior, Chorea, Hypotonia, Athetosis, Dysphagia,... |
OMIM:619435 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Ataxia, Hepatic fibrosis, Lethargy, Failure to thrive |
OMIM:207900 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hypertoni... |
OMIM:614969 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Schindler Disease, Type I |
|
Spasticity, Hypotonia, Generalized hypotonia, Myoclonus |
OMIM:609241 |
| Staphylococcal Necrotizing Pneumonia |
|
Lethargy, Leukocytosis, Neutrophilia, Leukopenia |
ORPHA:36238 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Short stature, Aggressive behavior, Self-injurious behavior, S... |
OMIM:600430 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Elevated circulating creatine kinase concentration, Fasciculations |
OMIM:619733 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Broad-based gait, Vocal cord paralysis, Muscle weakness |
OMIM:615490 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
| Familial Thyroid Dyshormonogenesis |
|
Lethargy, Prolonged neonatal jaundice, Goiter |
ORPHA:95716 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Severe muscular hypotonia, Severe postnatal growth retardation, Hypertonia, Myoclonus, Brain atro... |
ORPHA:3078 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Bruxism, Agitation, Gait disturbance, Dystonia, Recurrent hand flapping |
OMIM:617903 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Lethargy, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Glutaric Acidemia I |
|
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... |
OMIM:231670 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Decreased activity of mitochondrial complex IV, Babinski sign, D... |
OMIM:616539 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Decreased activity of mitochondrial... |
OMIM:614947 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Lipid accumulation in hepatocytes, Hepatic calcification, Decreased plasma total ca... |
OMIM:608836 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Hypotonia, Spastic tetraplegia, Cerebral atrophy, Growth delay, Myoclonus, Generalized hypotonia |
OMIM:614462 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Nail dystrophy, Anonychia, Sparse body hair, Anemia |
ORPHA:79402 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Jaundice, Unsteady ... |
OMIM:615512 |
| Fatal Familial Insomnia |
|
Neuronal loss in central nervous system, Ataxia, Myoclonus, Dysphagia |
OMIM:600072 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Athetosis, Failure to thrive, Cryptorchidism |
OMIM:219150 |
| Developmental And Epileptic Encephalopathy 23 |
|
Hypotonia, Myoclonus |
OMIM:615859 |
| Developmental And Epileptic Encephalopathy 103 |
|
Hyperactivity, Ataxia, Hypotonia, Spastic tetraplegia, Opisthotonus, Eyelid myoclonus |
OMIM:619913 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Postnatal growth retardation, Axial hypotonia, Short stature, Hypokinesia |
OMIM:613320 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Choreoathetosis, Syringomyelia, Attention deficit hyperactivity disorder, Dystoni... |
ORPHA:261197 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Axial hypotonia, Short stature, Babinski sign, Hypotonia, Cerebral atrophy, Hypertonia, Inappropr... |
OMIM:615802 |
| Peho Syndrome |
|
Cerebellar atrophy, Severe muscular hypotonia, Myoclonus, Generalized hypotonia, Neuronal loss in... |
OMIM:260565 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Cerebral palsy, Failure to thrive, Opisthotonus |
OMIM:210210 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Bruxism, Ab... |
OMIM:616393 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensation in the lower ... |
ORPHA:447753 |
| Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy, Intrauterine growth retardation... |
ORPHA:2671 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d... |
OMIM:607459 |
| Pyruvate Carboxylase Deficiency |
|
Dystonia, Ataxia, Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Hypotonia, Growt... |
ORPHA:3008 |
| Cockayne Syndrome |
|
Cerebellar atrophy, Somatic sensory dysfunction, Severe short stature, Axial hypotonia, Ataxia, A... |
ORPHA:191 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly |
OMIM:613576 |
| Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Viral hepatitis, Somatic sensory dysfunction, Ataxia, Abnormal spinal... |
ORPHA:83597 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Hypertonia, Thrombocytopenia |
OMIM:253270 |
| Meningococcal Meningitis |
|
Lethargy, Paresthesia |
ORPHA:33475 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Ataxia, Hypotonia, Cerebral atrophy, Eyelid myoclonus, Generalized hypotonia |
OMIM:613839 |
| Biotinidase Deficiency |
|
Lethargy, Limb muscle weakness, Ataxia, Spastic paraparesis |
ORPHA:79241 |
| Pgm3-Cdg |
|
Hemolytic anemia, Lymphopenia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia,... |
ORPHA:443811 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Ataxia, Decreased activity of mitochondrial ATP synthase complex, Trem... |
OMIM:614052 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Mitral valve prolapse, Fine hair, Sparse hair |
OMIM:615278 |
| 5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Abnormal repetitive mannerisms, Hypotonia |
ORPHA:228384 |
| Nipah Virus Disease |
|
Tremor, Myoclonus, Anorexia |
ORPHA:99825 |
| Hyperkalemic Periodic Paralysis |
|
Episodic flaccid weakness, Periodic hyperkalemic paralysis |
OMIM:170500 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Trichinellosis |
|
Facial palsy, Ophthalmoplegia, Babinski sign, Hemiparesis, Apathy, Hemiplegia, Lethargy, Muscle w... |
ORPHA:863 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Attention deficit hyperac... |
OMIM:619680 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Spasticity, Hypotonia, Dystonia |
OMIM:614702 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Slurred ... |
ORPHA:33543 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Broad-based gait, Inability to walk, Hypotonia, Myoclonus, Neonatal hypotonia |
OMIM:616158 |
| Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Hepatic steatosis, Muscle weakness, Hepatomegaly |
OMIM:212138 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Axial hypotonia, Involuntary movements, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
ORPHA:572013 |
| Aicardi-Goutieres Syndrome 9 |
|
Axial hypotonia, Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Spastic diplegia, L... |
OMIM:619487 |
| Adams-Oliver Syndrome |
|
Alopecia, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, ... |
ORPHA:974 |
| Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Polycythemia, Intrahepatic cholestasis, Failure to thrive,... |
OMIM:606812 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Sparse facial hair, Sparse axillary hair, Failure to thrive, Slender b... |
OMIM:608154 |
| Neuraminidase Deficiency |
|
Short stature, Slurred speech, Hypotonia, Dysmetria, Myoclonus, Generalized hypotonia |
OMIM:256550 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
| Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Oculomotor apraxia,... |
ORPHA:300570 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia |
OMIM:615637 |
| 48,Xxyy Syndrome |
|
Ataxia, Tremor, Hypotonia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms |
ORPHA:10 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Inhalational Botulism |
|
Muscle weakness, Paralysis |
ORPHA:254504 |
| Wilson Disease |
|
Limb dystonia, Decreased circulating ceruloplasmin concentration, Dystonia, Poor motor coordinati... |
OMIM:277900 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Small for gestational age, Refractory siderobla... |
OMIM:557000 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Myopathy, Hypoplastic spleen, Anemia |
OMIM:185070 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Tremor, Growth delay, Testicular atrophy, Thr... |
OMIM:222300 |
| Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Dysmetria, Dysphagia, Myoclonus, Infantile muscular hypotonia, Los... |
ORPHA:93399 |
| Alternating Hemiplegia Of Childhood |
|
Dystonia, Facial hypotonia, Ataxia, Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal d... |
ORPHA:2131 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Babinski sign, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Generalized hypotonia, ... |
ORPHA:309263 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Myoclonus, Hypotonia, Cerebral atrophy, Dystonia |
OMIM:620167 |
| Activated Pi3K-Delta Syndrome |
|
Splenomegaly, B lymphocytopenia |
ORPHA:397596 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
| Typical Nemaline Myopathy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Gait disturbance, Neonatal hyp... |
ORPHA:171436 |
| Noonan Syndrome 6 |
|
Curly hair, Juvenile myelomonocytic leukemia, Long eyebrows, Cryptorchidism, Low posterior hairli... |
OMIM:613224 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Aggressive behavior, Growth delay, Hypertonia, Difficulty walking, Neonatal hypoto... |
OMIM:123450 |
| Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiar... |
ORPHA:268882 |
| Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Axial hypotonia, Cerebral atrophy, Hypertonia, Hyperkinetic movements, Tetrap... |
OMIM:619124 |
| Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait ataxia, Dec... |
ORPHA:309271 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
| Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, Episodic flacci... |
ORPHA:37553 |
| Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Lymphadenopathy, Weight loss, Nodular goiter, Goiter |
ORPHA:142 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Hepatic steatosis, Hepatomegaly |
OMIM:255120 |
| Leber Optic Atrophy |
|
Postural tremor, Ataxia, Dystonia |
OMIM:535000 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypotonia, Cerebral atrophy, Growth delay, Choreoathetosis,... |
OMIM:615471 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Short stature, Ataxia, Aggressive behavior, Hypertonia, Gliosis, Gait disturban... |
ORPHA:268261 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Spastic tetraparesis, Hypertonia, Myoclonus, Infantile axial hypotonia, Intrauterine growth retar... |
ORPHA:284417 |
| Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Axial hypotonia, Ataxia, Limb hypertonia |
OMIM:617020 |
| Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Glossopharyngeal Neuralgia |
|
Dysesthesia, Vocal cord paralysis, Depression, Chiari type I malformation, Weight loss |
ORPHA:221098 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... |
ORPHA:98784 |
| Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Myoclonus |
OMIM:619609 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
| Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Anemia, Hiatus hernia |
ORPHA:71272 |
| Cerebral Visual Impairment |
|
Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Attention def... |
ORPHA:447788 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Dysphagia, Intrauterine growth retarda... |
OMIM:619909 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Generalized hirsutism, Long eyelashes in irregular rows, ... |
ORPHA:2963 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, Cryptorchidism |
OMIM:273390 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Oculomotor apraxia, Obesity, Sparse hair, Decreased testicular size |
OMIM:619185 |
| Rift Valley Fever |
|
Paralysis, Paraparesis, Jaundice, Hepatitis, Anemia, Hemiparesis, Decerebrate rigidity, Muscle we... |
ORPHA:319251 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Lethargy, Limb hypertonia |
OMIM:620306 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle w... |
ORPHA:98863 |
| Coffin-Siris Syndrome 6 |
|
Short stature, Tics, Attention deficit hyperactivity disorder, Generalized hypotonia, Abnormal re... |
OMIM:617808 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Jaundice |
OMIM:616483 |
| Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle w... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Respiratory insufficiency due to muscle w... |
ORPHA:98853 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Atrophy/Degeneration i... |
ORPHA:70595 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries, Truncal obesity, Slowed slurred speech, Sparse hair, High ant... |
ORPHA:284180 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Small for gestational age, Cryptorchidism, Increased circulating gonad... |
OMIM:300869 |
| Spinal Arteriovenous Metameric Syndrome |
|
Lymphangioma, Cutaneous angiolipomas, Abnormal spinal cord morphology, Spinal arteriovenous malfo... |
ORPHA:53721 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms, Hypotonia |
OMIM:613443 |
| Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Unsteady gait, Hypotonia, Attention deficit hyperactivity disor... |
OMIM:618205 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Cerebral atrophy, Gliosis, Generalized hy... |
OMIM:124000 |
| Unilateral Polymicrogyria |
|
Infantile spasms, Focal-onset seizure, Seizure, Status epilepticus, Myoclonus, Focal impaired awa... |
ORPHA:268943 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Nail dystrophy, I... |
ORPHA:98813 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Dystonia, Ataxia, Oral-pharyngeal dysphagia, Postnatal growth retardation, Tr... |
OMIM:300966 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:181 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Infantile axial hypotonia, Spasticity, Cerebral cortical... |
ORPHA:309155 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Axial hypotonia, Facial hypotonia, Short stature, Aggressive behavior, Babins... |
ORPHA:364028 |
| 19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or a... |
ORPHA:217346 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
| Even-Plus Syndrome |
|
Atrial septal defect, Highly arched eyebrow, Synophrys, Sparse hair, Patent foramen ovale |
OMIM:616854 |
| Gracile Bone Dysplasia |
|
Asplenia, Seizure, Hypoplastic spleen, Short stature |
OMIM:602361 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting, Growth delay, Generalized hypotonia, Abnormal re... |
ORPHA:3306 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Aortic valve prolapse, Ventricular septal defect, Spastic diplegia, Sparse hair, Thro... |
OMIM:619980 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Generalize... |
OMIM:618914 |
| Brody Disease |
|
Somatic sensory dysfunction, Fasciculations |
OMIM:601003 |
| Amyotrophic Dystonic Paraplegia |
|
Spastic paraplegia, Dystonia |
OMIM:105300 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... |
OMIM:607626 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Mildly elevated creatine kinase, Fasciculations |
ORPHA:1143 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Hypotonia, Gait imbalance, Attention deficit hy... |
OMIM:619312 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Hepatic steatosis, Hepatomegaly |
OMIM:201450 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Hypotonia, Self-injurious behavior, Compulsive b... |
OMIM:617061 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Growth delay, Spastic paraplegia, Axial dystonia |
OMIM:619026 |
| Filippi Syndrome |
|
Severe short stature, Short stature, Hypotonia, Paraplegia, Growth delay, Limb dystonia, Intraute... |
ORPHA:3255 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Ventricular septal defect, Concave nail, Abnormality of hair text... |
OMIM:234050 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... |
ORPHA:572 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Axial hypotonia, Short stature, Generalized dystonia, Clonus, Ataxia, Oculomotor apraxia, Babinsk... |
OMIM:618076 |
| Vici Syndrome |
|
Lymphopenia, Hypopigmentation of hair, Atrial septal defect, Left ventricular hypertrophy, Albini... |
OMIM:242840 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... |
ORPHA:167 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
| Legionnaires Disease |
|
Ataxia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphope... |
ORPHA:549 |
| Niemann-Pick Disease, Type C2 |
|
Ataxia, Hypotonia, Dysphagia, Dystonia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Growth delay, Muscular dy... |
ORPHA:2461 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dysphagi... |
OMIM:620358 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Spasticity, Babinski sign, Dystonia |
OMIM:618186 |
| Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Ataxia, Incoordination, Babi... |
OMIM:601992 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Axial hypotonia, Hypotonia, Upper limb spasticity, Gliosis, Spasticity, Ne... |
OMIM:300868 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Short stature, Myoclonus, Brain atrophy, Delayed puberty, Neonatal hypotonia,... |
ORPHA:251004 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Thrombocytosis, Pure red cell aplasia, Short s... |
ORPHA:124 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... |
ORPHA:512 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Hyperkinetic movements, Intrauterine growth retardation, Polydipsia, Polyp... |
ORPHA:525731 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Generalized hypotonia, Spasticity, Abnormal repetitive mannerisms, Se... |
OMIM:300486 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obesity, Lethargy |
ORPHA:26793 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Bicuspid aortic valve, Hyperconvex nail, Hypoplastic left heart, Sparse hai... |
OMIM:619721 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Hypotonia, Hypertonia, Brain atrophy,... |
ORPHA:447997 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Short stature, Oral-pharyngeal dysphagia, Generalized hypotonia, Abnormal repetiti... |
OMIM:610883 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Short stature, Ataxia, Hypotonia, Clumsiness, Attention deficit hyperactivity disorder, Compulsiv... |
OMIM:615656 |
| Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Small for gestational age, Short stature, Thrombocytopenia, Disproportionate short-t... |
ORPHA:1830 |
| Isolated Posterior Meningocele |
|
Tethered cord, Paraplegia, Hypertonia, Upper limb spasticity, Hydromyelia, Difficulty walking, Hy... |
ORPHA:268810 |
| Alazami Syndrome |
|
Abnormal eating behavior, Postnatal growth retardation, Abnormal repetitive mannerisms, Self-muti... |
ORPHA:319671 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia |
OMIM:250850 |
| Superficial Siderosis |
|
Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of the spinal cord, Abno... |
ORPHA:247245 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Cold paresis, Periodic hypokalemic paresis |
ORPHA:684 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Limb dystonia, Dystonia, Cerebral palsy, Infantile axial hypotonia, Aggressive behavior, Inabilit... |
OMIM:616973 |
| Galloway-Mowat Syndrome 1 |
|
Cerebellar atrophy, Axial hypotonia, Short stature, Ataxia, Spastic tetraplegia, Cerebral atrophy... |
OMIM:251300 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short stature, Spastic tetraparesis, Hypotonia, Cerebral atrophy, Myoclonus, Generalized hypotonia |
OMIM:614261 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Short stature, Paralysis, Respiratory insufficiency due to muscle weakness, Gro... |
ORPHA:18 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Atrial septal defect, Sparse eyebrow, Synophrys, Hyposegmentation of neutrophil nucle... |
OMIM:620075 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia,... |
OMIM:212065 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
| Argininemia |
|
Cerebellar atrophy, Hyperactivity, Anorexia, Postnatal growth retardation, Progressive spastic qu... |
OMIM:207800 |
| Full Schwannomatosis |
|
Hypoesthesia, Paresthesia, Spinal cord tumor, Fasciculations |
ORPHA:93921 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Short stature, Bilateral cryptorchidism, Hypertonia, Neutropenia, Intrauterine... |
OMIM:616395 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Abnormality of Krebs cycle metabolism, Chorea, Gait ataxia, Ophthalmoparesi... |
ORPHA:255210 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... |
ORPHA:1807 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Oral-pharyngeal dysphagia, Tremor, Hypotonia, Gliosis, Attention... |
ORPHA:506358 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Head titubation, Dysmetria, Cerebellar hypopl... |
OMIM:619708 |
| Coach Syndrome 1 |
|
Ataxia, Hypotonia, Growth delay, Generalized hypotonia, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:216360 |
| Hydranencephaly |
|
Postnatal growth retardation, Spastic diplegia, Opisthotonus, Lethargy, Atrophic pituitary gland,... |
ORPHA:2177 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis, Hypotonia |
OMIM:231680 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Ataxia, Tremor, Depression, Cholestatic liver disease, Cholelithiasis |
ORPHA:79095 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... |
OMIM:613102 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Developmental And Epileptic Encephalopathy 86 |
|
Generalized hypotonia, Dystonia |
OMIM:618910 |
| Revesz Syndrome |
|
Ataxia, Aplastic anemia, Nail pits, Fine hair, Hypertonia, Nail dystrophy, Bone marrow hypocellul... |
OMIM:268130 |
| Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:94080 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Broad-based gait, Facial hypotonia, Severe muscular hypotonia, Atax... |
ORPHA:438216 |
| Kallmann Syndrome |
|
Ataxia, Tremor, Cryptorchidism, Obesity, Breast hypoplasia, Paraplegia, Gait disturbance, Delayed... |
ORPHA:478 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Growth delay, Paralysis |
OMIM:242100 |
| Adrenomyeloneuropathy |
|
Dysesthesia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Leg muscle stiffness, A... |
ORPHA:139399 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Decreased testicular size, Fine hair |
ORPHA:251019 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor,... |
OMIM:619475 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... |
ORPHA:300385 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair, Dystonia, Periventricular heterotopia |
OMIM:614105 |
| D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Corpus callosum atrophy, Hypotonia, Gliosis, Neonatal hypotonia |
OMIM:261515 |
| Developmental And Epileptic Encephalopathy 101 |
|
Myoclonus, Axial hypotonia, Hypotonia, Opisthotonus |
OMIM:619814 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ataxia, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia, Difficulty... |
OMIM:610978 |
| Siddiqi Syndrome |
|
Limb dystonia |
OMIM:618635 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Hypotonia, Self-injurious behavior, Attention deficit hyperactivity disorder... |
ORPHA:313892 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Neonatal hypotonia, Chorea, Hemiparesis, Dystonia |
OMIM:618829 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair |
OMIM:618535 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Myoclonus, Ataxia, Hypotonia, Dystonia |
OMIM:619167 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Pituitary dwarfism, Decreased response to growth hormone stimulation... |
ORPHA:226307 |
| Desbuquois Syndrome |
|
Sparse hair, Ventricular septal defect, Abnormal eyelash morphology |
ORPHA:1425 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Hepatomegaly, Brittle hair, Small for gestational age, Thrombocytosis, Increased mean... |
OMIM:222470 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Short stature, Aggressive behavior, Postnatal growth retardation, Unsteady gait, Hypertonia, Gene... |
OMIM:212066 |
| Semilobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Decreased response to growth hormone stimulation ... |
ORPHA:93924 |
| Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Impaired temperature sensation, Hypotonia, Fasciculations, ... |
OMIM:268800 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Lymphopenia, Follicular hyperplasia, Paratracheal lymphadenopathy,... |
OMIM:615934 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm |
ORPHA:50944 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair |
ORPHA:1810 |
| Fg Syndrome 3 |
|
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Sézary Syndrome |
|
Hepatomegaly, Alopecia, Tremor, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal lymphocyt... |
ORPHA:3162 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms, Hypotonia |
OMIM:618067 |
| Myopathy, Centronuclear, X-Linked |
|
Neonatal hypotonia, Severe muscular hypotonia, Hypokinesia |
OMIM:310400 |
| Microcephaly, Amish Type |
|
Axial hypotonia, Myoclonus, Limb hypertonia |
OMIM:607196 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Somatic sensory dysfunction, Lymphopenia, Ataxia, Eosinophilia, Abscess, Myoclo... |
OMIM:615816 |
| Combined Malonic And Methylmalonic Acidemia |
|
Axial hypotonia, Dystonia |
ORPHA:289504 |
| Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
| Joubert Syndrome |
|
Ataxia, Highly arched eyebrow, Situs inversus totalis, Tremor, Abnormality of neuronal migration,... |
ORPHA:475 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Rhabdomyosarcoma, Growth delay, Muscular dystrophy, Intrauterine growth retardation |
ORPHA:1052 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Muscular dystrophy |
ORPHA:300751 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Abnormality ... |
ORPHA:521426 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
| Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Short stature, Axial hypotonia, Dystonia, Tremor, Hemiplegia/he... |
ORPHA:51 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair |
ORPHA:1660 |
| Anauxetic Dysplasia 2 |
|
Sparse hair, Nail dysplasia, Small nail |
OMIM:617396 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Tetralogy of Fallot, Sparse hair, Failure to thrive |
ORPHA:2316 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Axial hypotonia, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Short stature, Abnormal repetitive mannerisms, Bruxism, Hypotonia, Gliosis, Compul... |
OMIM:615873 |
| Coffin-Siris Syndrome 7 |
|
Hyperactivity, Short stature, Severe temper tantrums, Hypotonia, Compulsive behaviors, Abnormal r... |
OMIM:618027 |
| Cystinosis |
|
Short stature, Abnormal pyramidal sign, Gait disturbance, Delayed puberty, Polydipsia, Abnormal r... |
ORPHA:213 |
| Infantile Krabbe Disease |
|
Lower limb spasticity, Diffuse cerebral atrophy, Spastic diplegia, Opisthotonus, Ankle clonus, De... |
ORPHA:206436 |
| Down Syndrome |
|
Impaired pain sensation, Abnormality of the lymphatic system, Obesity, Gait disturbance, Sparse h... |
ORPHA:870 |
| Joubert Syndrome 6 |
|
Oculomotor apraxia, Abnormal repetitive mannerisms, Hypotonia, Ataxia |
OMIM:610688 |
| Severe Congenital Nemaline Myopathy |
|
Severe muscular hypotonia, Hypokinesia, Dysphagia |
ORPHA:171430 |
| Menkes Disease |
|
Alopecia, Brittle hair, Babinski sign, Hypertonia, Sparse hair |
OMIM:309400 |
| Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Inability to walk, Synophrys, Cryptorchidism, Hirsut... |
OMIM:615485 |
| Macrocephaly/Autism Syndrome |
|
Speech apraxia, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis,... |
OMIM:605309 |
| Cranioectodermal Dysplasia |
|
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology |
ORPHA:1515 |
| Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Exaggerated startle response, Dystonia, Abnormality of extrapyramidal m... |
ORPHA:79255 |
| White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Short stature, Facial hypotonia, Aggressive behavior, Hypotonia, Ce... |
OMIM:616364 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Clonus, Tre... |
OMIM:619424 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hypertension, Tremor, Splenomegaly, Oc... |
ORPHA:1454 |
| Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Hyperactivity, Diffuse cerebral atrophy, Dystonia, Tremor, Choreoathetosis, S... |
ORPHA:1934 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Lethargy |
OMIM:215600 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... |
ORPHA:69735 |
| De Barsy Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Athetosis, Progressive cereb... |
ORPHA:2962 |
| Reni Syndrome |
|
Cryptorchidism, Lymphopenia, Ataxia |
OMIM:617575 |
| Sialuria |
|
Generalized hypotonia, Attention deficit hyperactivity disorder, Hyperkinetic movements |
ORPHA:3166 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Axial hypotonia, Myoclonus |
OMIM:300673 |
| Developmental And Epileptic Encephalopathy 100 |
|
Axial hypotonia, Chorea, Hypotonia, Cerebral atrophy, Gait ataxia, Choreoathetosis, Appendicular ... |
OMIM:619777 |
| Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplas... |
OMIM:601186 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Myoclonus |
OMIM:618240 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Prolonged neonatal jaundice, Thyroid hypoplasia, Goiter |
ORPHA:226316 |
| Familial Hypoaldosteronism |
|
Growth delay, Lethargy, Failure to thrive |
ORPHA:427 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse body hair |
ORPHA:1897 |
| Smith-Magenis Syndrome |
|
Short stature, Impaired pain sensation, Hypotonia, Self-injurious behavior, Gait disturbance, Att... |
ORPHA:819 |
| Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
| Agel Amyloidosis |
|
Ataxia, Cardiomyopathy, Abnormal spleen morphology, Nail dystrophy, Sparse hair |
ORPHA:85448 |
| Diets-Jongmans Syndrome |
|
Short stature, Aggressive behavior, Gliosis, Generalized hypotonia, Attention deficit hyperactivi... |
OMIM:618846 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Polycystic ovaries, Hemiplegia, Cerebellar malformation, Failure to thrive, Lethargy |
ORPHA:137675 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Hyperechogenic pancreas, Pancreatic steato... |
OMIM:617052 |
| Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Ataxia, Facial palsy, Proximal muscle weakness, Tremor, External ophthalm... |
OMIM:164310 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Spasticity, Tetraparesis, Myoclonus, Generalized hypotonia |
OMIM:618972 |
| Rheumatic Fever |
|
Anorexia, Chorea, Gait disturbance, Hemiballismus, Fasciculations |
ORPHA:3099 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Dysesthesia, Orchitis, Jaundice, Neutrophilia in presence of infect... |
ORPHA:99826 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Intrauterine growth retardation, Hyperactivity, Abnormal repetitive mannerisms, Hypotonia |
OMIM:617751 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Severe short stature, Abnormal pyramidal sign, Cerebral atrophy, Self-injurio... |
ORPHA:468631 |
| Blepharocheilodontic Syndrome 1 |
|
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis |
OMIM:119580 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
| Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Hepatomegaly, Ataxia, Postnatal growth retardation, Cryptorchidism, Tremor... |
ORPHA:90321 |
| Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Hypotonia, Myoclonus, Generalized hypotonia, Abnormal repetitive mannerisms |
OMIM:300672 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Cerebellar atrophy, Speech apraxia, Pain insensitivity, Axial hypotonia, Short stature, Ataxia, B... |
OMIM:617330 |
| Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Tremor, Hypotonia, Dysphagia, Dysmetria, Truncal ataxia, Gliosis, Dystonia, Spasticity |
OMIM:220111 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Congenital muscular dystrophy |
OMIM:253800 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
| Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopeni... |
OMIM:242900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Muscular dystrophy |
OMIM:614643 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Athetosis, Cryptorchidism, Fine hair |
OMIM:614438 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Atrial septal defect, Slow-growing hair, Absent eyelashes, Splenomega... |
OMIM:115150 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular septal defect, Absent eyela... |
OMIM:106260 |
| Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia |
ORPHA:884 |
| White-Sutton Syndrome |
|
Cerebellar atrophy, Hyperactivity, Incoordination, Short stature, Facial hypotonia, Aggressive be... |
ORPHA:468678 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse hair, Sparse eyebrow |
OMIM:619989 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... |
ORPHA:276 |
| Alexander Disease |
|
Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, G... |
ORPHA:58 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy,... |
OMIM:601675 |
| Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Short stature, Impulsivity, Unilateral vocal cord paralysis, Hypotonia, Cereb... |
OMIM:301030 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Hepatomegaly |
OMIM:229700 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Depression, Periodic hypokalemic paresis, Short stature, Periodic paralysis |
OMIM:170390 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Obesity, Decreased testicular size, Sparse body hair |
ORPHA:2234 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Ataxia, Slow-growing hair, Ventricular ... |
ORPHA:2710 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Abnormal cardiac septum morphology, Nail dyspla... |
OMIM:613026 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Short stature, Generalized hypotonia, Dystonia |
OMIM:607906 |
| Nmda Receptor Encephalitis |
|
Oculogyric crisis, Involuntary movements, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoa... |
ORPHA:217253 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Lymphadenitis, Sp... |
OMIM:618935 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Ataxia, Hypotonia, Cerebral atrophy, Hypertonia, Myoclonus, Generalized hypot... |
OMIM:618426 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive be... |
ORPHA:476126 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1006 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, Hypotonia, Intra... |
OMIM:619695 |
| Multifocal Motor Neuropathy |
|
Fasciculations |
ORPHA:641 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Axial hypotonia, Inability to walk, Increased circulating IgE level, Disproportionate short statu... |
ORPHA:508533 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Axial hypotonia, Exaggerated startle response, Facial-lingual fasciculations, Spas... |
OMIM:617281 |
| Papillorenal Syndrome |
|
Short stature, Gliosis |
OMIM:120330 |
| Rat-Bite Fever |
|
Pericarditis, Parotitis, Diminished movement, Lymphadenitis, Myocarditis, Endocarditis, Weight lo... |
ORPHA:31205 |
| Cardiofaciocutaneous Syndrome |
|
Atrial septal defect, Brittle hair, Failure to thrive in infancy, Slow-growing hair, Abnormal hea... |
ORPHA:1340 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis, Lethargy, Failure to thrive, ... |
OMIM:617156 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Periodic paralysis, Splenomegaly, Growth delay, Pancreatic islet-cell hyperplasia, ... |
OMIM:276700 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Paralysis, Iron deficiency anemia, Paresthesia, Delayed puberty, Parath... |
ORPHA:358 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
| Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Ataxia, Muscle weakness, Thrombocytopenia |
ORPHA:466650 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature, Aggressive behavior |
ORPHA:391307 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Hypotonia, Myoclonus |
OMIM:560000 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Attention deficit hyperactivity... |
OMIM:617557 |
| Cadds |
|
Cerebellar atrophy, Intrauterine growth retardation, Dystonia |
ORPHA:369942 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Hypotonia, Self-injurious behavior, Abnormal temper tantrums,... |
ORPHA:449291 |
| Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Spastic tetraparesis, Increased circu... |
OMIM:615846 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Generalized hypotonia, Abnormal temper tantrums, Neon... |
ORPHA:457279 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Atrial septal defect, Slow-growing hair, Ventricular septal defect, Highly arched eye... |
OMIM:617506 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Prolonged neonatal jaundice, Thyroid hypoplasia, Goiter |
ORPHA:90673 |
| Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Hypotonia, Short stature |
ORPHA:2479 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lower limb spasticity, Broad-based gait, Ventricular septal defect, Cryptorchidism, Fine hair, Hy... |
ORPHA:251028 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Early-Onset Lafora Body Disease |
|
Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Truncal obesity, Sparse hair, Decreased testicular size, Thick eyebrow |
ORPHA:127 |
| Chromosome 5P13 Duplication Syndrome |
|
Sparse hair, Small for gestational age, Low posterior hairline |
OMIM:613174 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Thrombocytopenia, Hepatosple... |
ORPHA:470 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... |
OMIM:308300 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Axial hypotonia, Pica, Hypotonia, Obsessive-compulsive trait, Abnormal repetitive ... |
OMIM:617796 |
| Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Mitral valve prolapse, Pulmon... |
OMIM:619745 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Small for gestational age, Oligozoospermia, Nail dysplasia, Small nail, Sparse hai... |
OMIM:614813 |
| 9P13 Microdeletion Syndrome |
|
Short stature, Hand tremor, Myoclonus, Attention deficit hyperactivity disorder, Bruxism |
ORPHA:324313 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Axial hypotonia, Severe muscular hypotonia, Hypotonia, Myoclonus, Spasticity |
OMIM:612949 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick hair, Pachygyria, Coarse hair, Lissencephaly, Sparse hair, Spasticity, Failure to thrive, P... |
ORPHA:357074 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Spars... |
OMIM:250250 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Paten... |
OMIM:612541 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Ataxia, Spastic tetraplegia, Cerebral atrophy, Hypotonia, Growth delay, Distal senso... |
OMIM:609136 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Hyperactivity, Axial hypotonia, Short stature, Ataxia, Broad-based gait, Aggressive behavior, Uns... |
OMIM:614756 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Cirrhosis, Sparse hair, Failure to thrive, Fragile nails |
OMIM:242150 |
| 22Q11.2 Duplication Syndrome |
|
Hypotonia, Growth delay, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... |
ORPHA:1727 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... |
ORPHA:1787 |
| 3P25.3 Microdeletion Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
| Serotonin Syndrome |
|
Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus |
ORPHA:43116 |
| Cholera |
|
Lethargy, Muscle weakness |
ORPHA:173 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Ophthalmople... |
OMIM:615688 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Hypotonia, Cerebral atrophy, Growth delay, Hypertonia, Generalized hypo... |
OMIM:617248 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Hepatosplenomegaly, Periodic hypokalemic paresis, An... |
OMIM:259730 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Flexion contracture, Muscular dystrophy |
ORPHA:158684 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Cockayne Syndrome B |
|
Hepatomegaly, Dry hair, Ataxia, Small for gestational age, Abnormal hair morphology, Cryptorchidi... |
OMIM:133540 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Small for gestational age |
OMIM:610756 |
| Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Impaired temperature sensation |
ORPHA:100976 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... |
ORPHA:3253 |
| Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... |
ORPHA:652 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Cryptorchidism, F... |
OMIM:234100 |
| Acute Intermittent Porphyria |
|
Proximal muscle weakness in upper limbs, Somatic sensory dysfunction, Distal muscle weakness, Tre... |
ORPHA:79276 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Lower limb spasticity, Axial hypotonia, Short stature, Dystonia, Impulsivity, Ataxia, Cerebral pa... |
OMIM:619950 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:1883 |
| Oculodentodigital Dysplasia |
|
Atrial septal defect, Dry hair, Ataxia, Slow-growing hair, Paraparesis, Fine hair, Tetraparesis, ... |
OMIM:164200 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
| Hydroxykynureninuria |
|
Hypertonia, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivi... |
OMIM:618354 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Aggressive behavior, Impaired pain sensation, Tongue thrusting, Unsteady gait, ... |
OMIM:606232 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Clonus, Spastic tetraplegia, Hypoalbuminemia,... |
OMIM:619055 |
| Mercury Poisoning |
|
Tremor, Anorexia, Dystonia |
ORPHA:330021 |
| Hamamy Syndrome |
|
Hypoparathyroidism, Atrial septal defect, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cr... |
OMIM:611174 |
| Pineoblastoma |
|
Lethargy, Pinealoma, Paralysis |
ORPHA:251909 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Posterior Urethral Valve |
|
Postnatal growth retardation, Lethargy |
ORPHA:93110 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Hypotonia, Attention deficit hyperactivity disorder, Overfriendli... |
OMIM:619293 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Broad-based gait, Ventricular septal defect, Highly arched eyebrow, Large for gesta... |
OMIM:280000 |
| Scorpion Envenomation |
|
Restlessness, Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Hy... |
ORPHA:466677 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Abnormality of extrapyramidal motor function, Self-mutilation, Dystonia |
ORPHA:79233 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:242300 |
| Cockayne Syndrome A |
|
Hepatomegaly, Dry hair, Ataxia, Tremor, Cryptorchidism, Splenomegaly, Thymic hormone decreased, G... |
OMIM:216400 |
| Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Patent ductus arteriosus, Slurred speech, Fine hair, H... |
OMIM:277590 |
| Fucosidosis |
|
Short stature, Hypotonia, Spastic tetraplegia, Cerebral atrophy, Dystonia, Hemiplegia, Spastic gait |
OMIM:230000 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Muscular edema |
ORPHA:83468 |
| Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Severe muscular hypotonia, Myoclonus, Brain atrophy, Neonatal hypotonia |
ORPHA:314655 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Postnatal growth retardation, Hypotonia, Cerebral atrophy, Growth delay, Infantile muscular hypot... |
OMIM:301040 |
| Marshall-Smith Syndrome |
|
Atrial septal defect, Brittle hair, Ventricular septal defect, Highly arched eyebrow, Pachygyria,... |
OMIM:602535 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Head-banging, Attention deficit hyperactivity disorder, Frequent temper tantr... |
OMIM:619103 |
| Postpoliomyelitis Syndrome |
|
Fasciculations, Dysphagia |
ORPHA:2942 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Abnormal fingernai... |
ORPHA:1775 |
| Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive, Hepatomegaly |
ORPHA:1329 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hypotonia |
ORPHA:397612 |
| Lelis Syndrome |
|
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... |
ORPHA:140936 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Tremor, Vocal cord paralysis, Adrenal pheochromocytoma, Weight loss |
ORPHA:276621 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... |
OMIM:614941 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Generalized dystonia, Short stature, Dysphagia |
ORPHA:79107 |
| Hereditary Fructose Intolerance |
|
Growth delay, Lethargy, Jaundice, Hepatomegaly |
ORPHA:469 |
| Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
| Pseudo-Torch Syndrome 1 |
|
Spasticity, Axial hypotonia, Hypotonia, Dystonia |
OMIM:251290 |
| Congenital Sialidosis Type 2 |
|
Ataxia, Hypotonia, Dysmetria, Myoclonus, Spasticity |
ORPHA:93400 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Highly arched eyebrow, Cryptorchidism, S... |
OMIM:613563 |
| Myhre Syndrome |
|
Atrial septal defect, Small for gestational age, Ataxia, Ventricular septal defect, Pericardial e... |
OMIM:139210 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Hepatocellular carcinoma, Sparse hair, Decreased body weight |
OMIM:616200 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Atrial septal defect, Ventricular septal defect, Large for gestati... |
OMIM:607721 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Growth delay, Myoclonus |
ORPHA:168593 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia |
OMIM:617763 |
| Mucopolysaccharidosis, Type Ii |
|
Severe short stature, Short stature, Neurodegeneration, Cervical cord compression, Mild short sta... |
OMIM:309900 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Short stature, Spastic tetraplegia, Hypotonia, Hypertonia, Dystonia, Cerebral cortical atrophy |
OMIM:620024 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Sparse medial eyebrow, Cryptorchidism, Low anterior ... |
OMIM:601358 |
| Macs Syndrome |
|
Alopecia, Sparse eyebrow, Cryptorchidism, Decreased body weight, Sparse hair |
OMIM:613075 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Right ventricular cardiomyopathy, Abnormal morphology of ri... |
OMIM:601214 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Tremor, Increased ci... |
ORPHA:91347 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Ataxia, Pancreatic cysts, Tremor, Abnormality of the pancreas, Coarse hai... |
ORPHA:2750 |
| Neuroblastoma, Susceptibility To, 1 |
|
Spinal cord compression, Ataxia, Myoclonus |
OMIM:256700 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms, Infantile muscular hypotonia |
ORPHA:500159 |
| Kinsship Syndrome |
|
Short stature, Spastic tetraparesis, Hypotonia, Myoclonus, Brain atrophy, Bruxism, Abnormal repet... |
OMIM:619297 |
| Slc39A8-Cdg |
|
Cerebellar atrophy, Short stature, Severe muscular hypotonia, Inability to walk, Disproportionate... |
ORPHA:468699 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ... |
OMIM:268400 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Pain insensitivity, Broad-based gait, Short stature, Ataxia, Hypotonia, Distal sensory impairment... |
OMIM:256810 |
| Transketolase Deficiency |
|
Proportionate short stature, Hypotonia, Self-injurious behavior, Attention deficit hyperactivity ... |
ORPHA:488618 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Jaundice |
OMIM:615751 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Tip-toe gait, Sparse hair... |
OMIM:252500 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair, Secundum atrial septal defect, Transposition of the great arteries |
OMIM:619910 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Tethered cord, Short stature, Ataxia, Inability to walk, Hypotonia, Dystonia |
OMIM:620083 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
| Nijmegen Breakage Syndrome |
|
Hyperactivity, Short stature, Dysgammaglobulinemia, Glioma, Neurodegeneration, Intrauterine growt... |
OMIM:251260 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Cor pulmonale, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, ... |
OMIM:158310 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Cryptorchidism, Ataxia, Sparse hair |
OMIM:300661 |
| Monosomy 18P |
|
Generalized dystonia, Short stature, Hypotonia |
ORPHA:1598 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Abnormal repetitive mannerisms, Hypotonia |
ORPHA:261144 |
| Lafora Disease |
|
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Brain atrophy, Erratic myoclonus, Spasticity |
ORPHA:501 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Axial hypotonia, Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia |
ORPHA:1578 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair, Atrial septal defect, Spasticity, Ventricular septal defect |
OMIM:616449 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Spasticity, Hypotonia, Myoclonus |
OMIM:246450 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Ataxia, Growth delay, Gait disturbance, Myoclonus, Infantile muscular hypotonia, Oculomotor apraxia |
ORPHA:247262 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Atrial septal defect, Severe B lymphocytopenia, Portal hypertension, Cryptorchi... |
OMIM:620005 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa... |
OMIM:241080 |
| Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Highly arched eyebrow, Synophrys, Sparse hair, Pachygyria, Polymicrogy... |
OMIM:609460 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Small for gestational age, Decreased response to growth hormone stimulation... |
OMIM:614114 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Fine hair, Mitral valve prolapse, Spar... |
ORPHA:444072 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
| Kleefstra Syndrome |
|
Short stature, Aggressive behavior, Self-mutilation, Hypotonia, Self-injurious behavior, Abnormal... |
ORPHA:261494 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect,... |
OMIM:300967 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Sparse hair, Hypoplastic nipples, Small nail |
OMIM:273400 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Axial hypotonia, Tetraplegia, Myoclonus, Brain atrophy, Dystonia, Decreased circulating IgG level |
OMIM:618278 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma |
OMIM:605373 |
| Short Syndrome |
|
Sparse hair, Alopecia, Weight loss |
ORPHA:3163 |
| Scarf Syndrome |
|
Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipples, Sparse hair |
ORPHA:3134 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Hepatomegaly, Ataxia, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnor... |
ORPHA:581 |
| Mucopolysaccharidosis, Type Vii |
|
Postnatal growth retardation, Severe short stature, Neurodegeneration, Short stature |
OMIM:253220 |
| Leprosy |
|
Absent eyebrow, Alopecia, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, ... |
ORPHA:548 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
| Lipoid Proteinosis |
|
Dystonia, Dysphagia |
ORPHA:530 |
| Glass Syndrome |
|
Sparse hair, Broad-based gait, Long eyelashes, Nail dysplasia |
OMIM:612313 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Fine hair, Truncal obesity, Leukopenia, Hemophagocy... |
OMIM:222700 |
| Hermansky-Pudlak Syndrome 10 |
|
Axial hypotonia, Generalized hypotonia, Cerebral atrophy, Dystonia |
OMIM:617050 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
| Farber Disease |
|
Short stature, Paraparesis, Myoclonus, Brain atrophy, Infantile muscular hypotonia, Spasticity |
ORPHA:333 |
| 2Q37 Microdeletion Syndrome |
|
Short stature, Hypotonia, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnorma... |
ORPHA:1001 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Short stature, Aggressive behavior, Unsteady gait, Polyphagia, Dysm... |
ORPHA:96121 |
| Opitz-Kaveggia Syndrome |
|
Cryptorchidism, Fine hair, Abnormal heart morphology, Gray matter heterotopia, Frontal upsweep of... |
OMIM:305450 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse hair |
OMIM:613451 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Growth delay, Neonatal hypotonia, Short stature, Dystonia |
ORPHA:457193 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Congenital contracture, Congenital muscular dystrophy |
OMIM:236670 |
| Childhood Absence Epilepsy |
|
Limb myoclonus, Punding, Attention deficit hyperactivity disorder |
ORPHA:64280 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Somatic sensory dysfunction, Chronic active hepatitis, Abnormal cerebellum mor... |
ORPHA:289390 |
| Pitt-Hopkins Syndrome |
|
Incoordination, Hypotonia, Gait ataxia, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:610954 |
| Prader-Willi Syndrome Due To Translocation |
|
Neonatal hypotonia, Short stature, Severe muscular hypotonia, Head-banging, Abnormal temper tantr... |
ORPHA:177907 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of ... |
ORPHA:436252 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Ectopic thyroid, Lethargy, Thyroid hypoplasia, Goiter |
OMIM:218700 |
| Whipple Disease |
|
Ataxia, Anorexia, Abnormal pyramidal sign, Myoclonus, Polydipsia |
ORPHA:3452 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Polycystic ovaries |
OMIM:268020 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive |
OMIM:302960 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Vocal cord pa... |
ORPHA:64744 |
| Rothmund-Thomson Syndrome |
|
Small for gestational age, Sparse eyelashes, Alopecia totalis, Aplastic anemia, Sparse eyebrow, N... |
ORPHA:2909 |
| Lamellar Ichthyosis |
|
Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow |
ORPHA:313 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma |
OMIM:168000 |
| Kleefstra Syndrome 1 |
|
Aggressive behavior, Hypotonia, Generalized hypotonia, Compulsive behaviors, Abnormal repetitive ... |
OMIM:610253 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow |
OMIM:190351 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Tremor, Vocal cord paralysis, Adrenal pheochromocytoma, Weight loss |
ORPHA:29072 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair |
OMIM:257850 |
| Cranioectodermal Dysplasia 2 |
|
Atrial septal defect, Hepatomegaly, Sparse eyelashes, Cholangitis, Sparse eyebrow, Splenomegaly, ... |
OMIM:613610 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Small for gestational age, Clonus, Babinski sign, Dysmetria, Distal sensory im... |
OMIM:606721 |
| Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Hypertonia, ... |
ORPHA:96123 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia |
ORPHA:293978 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
| Ifap Syndrome 2 |
|
Sparse hair, Nail dystrophy, Atrichia |
OMIM:619016 |
| Wiedemann-Steiner Syndrome |
|
Hyperactivity, Short stature, Rhizomelia, Aggressive behavior, Postnatal growth retardation, Hypo... |
ORPHA:319182 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Synophrys, Congenital malformation... |
ORPHA:3455 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
| Blepharonasofacial Malformation Syndrome |
|
Torsion dystonia |
ORPHA:1252 |
| Melas |
|
Abnormal central motor function, Ataxia, Short stature, Hemiparesis, Gait disturbance, Myoclonus,... |
ORPHA:550 |
| Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentration, Oculogyric ... |
ORPHA:94093 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... |
OMIM:257980 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Ventricular septal defect, Sparse eyebrow, Small nail, Sparse hair, High anteri... |
OMIM:250410 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Aplas... |
ORPHA:83471 |
| Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Poor fine motor coordination, Neutrop... |
ORPHA:51636 |
| Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Alopecia totalis, Aplastic anemia, Cryptorchidism, Anemia, Sparse or a... |
ORPHA:221008 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms |
ORPHA:168782 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Gliosis, Generalized hypotonia |
OMIM:617403 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... |
ORPHA:221139 |
| Fructose Intolerance, Hereditary |
|
Hepatomegaly, Jaundice, Cirrhosis, Lethargy, Failure to thrive, Hepatic steatosis |
OMIM:229600 |
| Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Abnormal cortical gyration, Pancreatic cysts, Abnormal heart morphology, Gray... |
OMIM:311200 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:391487 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Unsteady gait, Nail dysplasi... |
OMIM:616682 |
| Mogs-Cdg |
|
Dystonia, Decreased circulating antibody level, Decreased circulating total IgM, Infantile muscul... |
ORPHA:79330 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Sparse eyebrow, Abnormality of the pancreas, Cardiomyopathy, Abnormal cardiac septu... |
ORPHA:175 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology |
ORPHA:1005 |
| Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg... |
ORPHA:84064 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
OMIM:224900 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Brain abscess, Patent ductus arteriosus, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse eyebrow, Cryptorc... |
OMIM:619841 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Premature ... |
ORPHA:363618 |
| Nablus Mask-Like Facial Syndrome |
|
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Cryptorchidism, Low an... |
OMIM:608156 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Sparse hair, Alopecia, Abnormal fingernail morphology |
ORPHA:659 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia |
OMIM:300755 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Sparse p... |
ORPHA:2232 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Alopecia totalis, Aplastic anemia, Cryptorchidism, Anemia, Sparse or a... |
ORPHA:221016 |
| Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Hypoplastic fingernail |
ORPHA:2457 |
| Gapo Syndrome |
|
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sp... |
OMIM:230740 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Breast... |
ORPHA:432 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Congenital hypoplastic anemia, Cryptorchid... |
OMIM:619488 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Failure to thrive, Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Sparse eyebrow, Sparse hair, Failure to thrive |
OMIM:244450 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Hepatomegaly, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Failure ... |
OMIM:612132 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Ventricular septal defect, Sparse eyebr... |
ORPHA:1071 |
| Hurler Syndrome |
|
Neurodegeneration, Short stature |
OMIM:607014 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Atrial septal defect, Sparse eyelashes, Abnormal cortical gyration, Ventricula... |
OMIM:210710 |
| Scarf Syndrome |
|
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Sparse hair |
OMIM:312830 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Attention deficit hyperactivity disorder, Neonatal hypotonia, Intrauteri... |
OMIM:619005 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short stature, Hypotonia, Head-banging, Self-injurious behavior, Attention deficit hyperactivity ... |
OMIM:619575 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina... |
ORPHA:2108 |
| Chromosome 18P Deletion Syndrome |
|
Short stature, Hypotonia, Dystonia |
OMIM:146390 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
| Fabry Disease |
|
Paresthesia, Fasciculations, Delayed puberty |
OMIM:301500 |
| Papillon-Lefèvre Syndrome |
|
Liver abscess, Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse bo... |
ORPHA:678 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Muscular dystrophy |
OMIM:253280 |
| Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Small for gestational age, Sparse eyebrow, Patent ductus arteriosus, Tetral... |
OMIM:619869 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Abnormal fingernail morphology, Fine hair |
ORPHA:1806 |
| Primrose Syndrome |
|
Restlessness, Short stature, Ataxia, Elevated circulating alpha-fetoprotein concentration, Aggres... |
OMIM:259050 |
| Teebi-Shaltout Syndrome |
|
Slow-growing hair, Ventricular septal defect, Highly arched eyebrow, Low anterior hairline, Spars... |
OMIM:272950 |
| Orofaciodigital Syndrome Type 3 |
|
Oculomotor apraxia, Spasticity, Myoclonus |
ORPHA:2752 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Decreased body weight |
OMIM:615349 |
| Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Trichilemmoma, Nail dystrophy, Spar... |
ORPHA:477 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Muscular dystrophy |
OMIM:615287 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Atrial septal defect, Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Pro... |
OMIM:620186 |
| Marshall Syndrome |
|
Sparse hair, Sparse eyelashes, Sparse eyebrow |
ORPHA:560 |
| Feingold Syndrome 1 |
|
Accessory spleen, Asplenia, Patent ductus arteriosus, Vocal cord paralysis, Polysplenia, Annular ... |
OMIM:164280 |
| Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
| Arboleda-Tham Syndrome |
|
Axial hypotonia, Dystonia, Hypotonia, Growth delay, Lower limb hypertonia, Gait imbalance, Genera... |
OMIM:616268 |
| Menkes Disease |
|
Hypopigmentation of hair, Chorea, Hypertonia, Prolonged neonatal jaundice, Sparse hair, Woolly ha... |
ORPHA:565 |
| Lathosterolosis |
|
Intrauterine growth retardation, Myoclonus, Hypotonia, Cerebellar cortical atrophy |
ORPHA:46059 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia,... |
OMIM:620330 |
| Neutral Lipid Storage Myopathy |
|
Short stature, Abnormal circulating creatine kinase concentration, Fasciculations, Difficulty wal... |
ORPHA:98908 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Birth length less than 3rd percentile, Gait disturbance, Attention deficit hyperactivity disorder... |
ORPHA:464311 |
| Holoprosencephaly |
|
Chorea, Hypotonia, Spinal cord tumor, Spinal dysraphism, Dystonia, Spasticity |
ORPHA:2162 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... |
ORPHA:1010 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Fine hair, Patchy alopecia, Breast aplas... |
OMIM:181270 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Atrial septal defect, Ventricular septal defect, Thin nail, Concave n... |
OMIM:218040 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Short stature, Involuntary movements, Broad-based gait, I... |
ORPHA:438213 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebellar atrophy, Limb dystonia, Elevated circulating creatine kinase concentration, Babinski s... |
OMIM:175780 |
| Legius Syndrome |
|
Hyperactivity, Short stature, Hypotonia, Attention deficit hyperactivity disorder, Dystonia, Opti... |
ORPHA:137605 |
| Osteogenesis Imperfecta, Type Xx |
|
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
| Hawkinsinuria |
|
Sparse hair, Failure to thrive |
OMIM:140350 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Short stature, Gait disturbance, Intrauterine growth retardation, Abnormal repetit... |
ORPHA:464306 |
| Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair |
OMIM:614099 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Short stature, Poor coordination, Spastic diplegia, Cerebral atrophy, Generalized ... |
OMIM:309590 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair, Decreased res... |
OMIM:129900 |
| Premature Aging Syndrome, Penttinen Type |
|
Sparse hair, Failure to thrive |
OMIM:601812 |
| Chime Syndrome |
|
Ventricular septal defect, Pulmonary valve atresia, Acute leukemia, Fine hair, Transposition of t... |
ORPHA:3474 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Slow-growing hair, Short nail, Thin nail, Bicuspid aortic valve, Malformation of th... |
OMIM:218330 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Decreased body weight, Alopecia, Abnormal testis morphology, Abnormal hai... |
ORPHA:79474 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Intrauterine growth retardation, Myoclonus |
ORPHA:1352 |
| Ogden Syndrome |
|
Torticollis, Short stature, Postnatal growth retardation, Hypotonia, Cerebral atrophy, Growth del... |
OMIM:300855 |
| Ethylene Glycol Poisoning |
|
Slurred speech, Addictive alcohol use, Myoclonus, Ataxia |
ORPHA:31826 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Nail dystrophy, Difficulty walking, Sparse hair, Failure to thrive, Alopecia universalis |
ORPHA:158668 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Hypotonia, Gait ataxia, Stereotypical body rock... |
ORPHA:513456 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Impaired pain sensation |
OMIM:601559 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Failure to thrive in infancy, Annular pancreas, Vocal cord paralysis, Spasticity, C... |
ORPHA:798 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair |
OMIM:607812 |
| Alg12-Cdg |
|
B lymphocytopenia, Thrombocytopenia |
ORPHA:79324 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, S... |
ORPHA:353281 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
| Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
| Wrinkly Skin Syndrome |
|
Failure to thrive, Cryptorchidism, Slurred speech, Progressive cerebellar ataxia, Sparse hair, At... |
ORPHA:2834 |
| X-Linked Intellectual Disability, Snyder Type |
|
Short stature, Involuntary movements, Inability to walk, Unsteady gait, Myoclonus, Infantile musc... |
ORPHA:3063 |
| Lowe Oculocerebrorenal Syndrome |
|
Short stature, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-... |
OMIM:309000 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair |
OMIM:608615 |
| Codas Syndrome |
|
Cryptorchidism, Vocal cord paresis, Short stature |
OMIM:600373 |
| Beta-Ureidopropionase Deficiency |
|
Neonatal hypotonia, Hypotonia, Dystonia |
OMIM:613161 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Hypotonia, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums... |
OMIM:619512 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair, Cryptorchidism, Failure to thrive, Anterior pituitary hypoplasia |
OMIM:151050 |
| Renpenning Syndrome 1 |
|
Atrial septal defect, Brittle hair, Ventricular septal defect, Situs inversus totalis, Sparse hai... |
OMIM:309500 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c, Sparse eyebrow, Nail dystrophy... |
OMIM:619127 |
| Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Spinal cord compression, Growth d... |
ORPHA:580 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Patent ductus arteriosus, Hepatic steatosis |
OMIM:619934 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Axial hypotonia, Spastic tetraparesis, Growth delay, Hypertonia, Generalized hypotonia, Intrauter... |
OMIM:301044 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Elevated circulating luteinizing hormone level, Sparse axillary hair, ... |
ORPHA:90796 |
| Esophageal Atresia |
|
Small for gestational age, Failure to thrive in infancy, Growth delay, Hypertonia, Vocal cord par... |
ORPHA:1199 |
| Orofaciodigital Syndrome Iii |
|
Myoclonus |
OMIM:258850 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
| Woodhouse-Sakati Syndrome |
|
Growth delay, Dystonia, Choreoathetosis, Delayed puberty |
ORPHA:3464 |
| 1P36 Deletion Syndrome |
|
Short stature, Hemiplegia/hemiparesis, Polyphagia, Hypotonia, Self-injurious behavior, Gait distu... |
ORPHA:1606 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Axial hypotonia, Abnormal repetitive mannerisms, Hypotonia, Difficulty walking |
OMIM:618653 |
| Myoclonic Epilepsy Of Lafora |
|
Gait disturbance, Myoclonus, Apraxia |
OMIM:254780 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Splenomegaly, T lymphocytopenia, B lymphocytopenia, Reduce... |
OMIM:619381 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... |
ORPHA:2273 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
| Restrictive Dermopathy |
|
Atrial septal defect, Short nail, Dextrocardia, Sparse eyebrow, Aplasia/Hypoplastia of the eccrin... |
ORPHA:1662 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Myoclonic spasms |
ORPHA:73224 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Short stature, Clonus, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperacti... |
ORPHA:534 |
| Listeriosis |
|
Somatic sensory dysfunction, Ataxia, Tremor, Hemiparesis, Myoclonus |
ORPHA:533 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Intrauterine growth retardation, Unilateral vocal cord paralysis |
ORPHA:324540 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Tethered cord, Short stature, Hypotonia, Growth delay, Attention de... |
OMIM:619522 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Rigidity, Cryptorchidism, Loss of eyelashes, Hypertonia, Thin eyebrow, Sparse hair, Spa... |
ORPHA:2636 |
| Tetrasomy 9P |
|
Absent gallbladder, Myositis, Abnormal dental enamel morphology, Cryptorchidism, Abnormal spinal ... |
ORPHA:3310 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Postnatal growth retardation, Abn... |
ORPHA:353277 |
| Williams-Beuren Syndrome |
|
Incoordination, Failure to thrive in infancy, Short stature, Portal hypertension, Poor coordinati... |
OMIM:194050 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Obesity, Pseudohypoparathyroidism, Sparse hair, Frontal hirsutism, Failure to thrive |
OMIM:617157 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Abnormal repetitive mannerisms, Hypotonia, Aggressive behavior |
OMIM:301066 |
| Norrie Disease |
|
Clonus, Hypotonia, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder,... |
ORPHA:649 |
| Limb Body Wall Complex |
|
Ventral hernia, Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnormal spinal c... |
ORPHA:2369 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Thick eyebrow, Bicuspid aortic valve, Bilateral cryptorchidism, Partial anomal... |
OMIM:150230 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Abnormal repetitive mannerisms, Spina bifida |
ORPHA:508498 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... |
OMIM:150400 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Nail dystrophy,... |
OMIM:305600 |
| Wrinkly Skin Syndrome |
|
Short nail, Cryptorchidism, Muscular ventricular septal defect, Atrial septal dilatation, Sparse ... |
OMIM:278250 |
| Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Hypotonia, Hypertonia, Fasciculations, Myoclonus, Spasticity |
ORPHA:284339 |
| Roberts Syndrome |
|
Sparse hair, Cryptorchidism, Thrombocytopenia |
ORPHA:3103 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
| Wolf-Hirschhorn Syndrome |
|
Tethered cord, Short stature, Growth delay, Severe postnatal growth retardation, Generalized hypo... |
OMIM:194190 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Atrial septal defect, Sparse eyelashes, Ventricular septal defect, S... |
OMIM:601803 |
| Mosaic Trisomy 20 |
|
Intrauterine growth retardation, Abnormal spinal cord morphology, Cryptorchidism |
ORPHA:1724 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Increased circulating IgM level, In... |
ORPHA:99827 |
| Coffin-Siris Syndrome 12 |
|
Short stature, Hypotonia, Hippocampal atrophy, Abnormal repetitive mannerisms, Oral motor hypotonia |
OMIM:619325 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Intrauterine growth retardation, Severe short stature, Dystonia |
ORPHA:90349 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Axial hypotonia, Tremor, Hypotonia, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse hair, Breast aplasia, Abnormal fingernail morphology |
ORPHA:2036 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus ... |
OMIM:268300 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail |
OMIM:200110 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo... |
OMIM:113620 |
| Mowat-Wilson Syndrome |
|
Broad-based gait, Short stature, Ataxia, Impaired pain sensation, Inability to walk, Bruxism, Hyp... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Short stature, Impaired pain sensation, Inability to walk, Bruxism, Decreased c... |
ORPHA:261537 |
| Menke-Hennekam Syndrome 1 |
|
Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow |
OMIM:618332 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Short stature, Impaired pain sensation, Inability to walk, Bruxism, Decreased c... |
ORPHA:261552 |
| Doors Syndrome |
|
Spina bifida occulta, Myoclonus, Infantile muscular hypotonia |
ORPHA:79500 |
