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Gene: Galc MGI:95636

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Gene Summary

Name:
galactosylceramidase
Synonyms:
Gacy,  A930008M05Rik,  2310068B06Rik,  galactocerebrosidase

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Hind Leg and Hip

14 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Human diseases caused by Galc mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Galc by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait OMIM:607584
Early-Onset Generalized Limb-Onset Dystonia
Hypertonia, Gait disturbance ORPHA:256
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spasticity, Spastic paraplegia, Scissor gait OMIM:615685
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O... ORPHA:280234
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Neuhauser-Eichner-Opitz Syndrome
Rigidity, Spasticity, Hypertonia, Ataxia ORPHA:2672
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity ORPHA:101004
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:302800
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... OMIM:615625
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... OMIM:617672
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... OMIM:614877
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... OMIM:604484
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Multicentric Reticulohistiocytosis
Muscle weakness, Cachexia, Histiocytosis ORPHA:139436
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Cerebellar Ataxia, Cayman Type
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia OMIM:601238
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:614895
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Autosomal Recessive Spastic Paraplegia Type 32
Babinski sign, Abnormal pons morphology, Progressive spasticity, Difficulty walking, Cerebellar c... ORPHA:171622
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor ORPHA:94122
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:180800
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... ORPHA:497764
Spinocerebellar Ataxia Type 5
Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... ORPHA:206594
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, ... ORPHA:225154
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Chorea, Benign Hereditary
Chorea, Frequent falls, Gait disturbance OMIM:118700
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Spastic gait, ... ORPHA:401820
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Decreased compound muscle action potential amplitude, Babinski sign, Hand tremor, Steppage gait, ... OMIM:618279
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor ORPHA:2589
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... ORPHA:423275
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, Proximal muscle weakness,... OMIM:608627
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation, Peripheral demyelination, Axon... OMIM:620378
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor... ORPHA:101010
Pelizaeus-Merzbacher Disease
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... OMIM:312080
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creati... OMIM:208920
Multifocal Motor Neuropathy
Progressive muscle weakness, Limb muscle weakness, Fasciculations, Progressive distal muscle weak... ORPHA:641
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Basal ganglia calcification, Babinski sign, Cerebral atrophy, Leukoencephalopath... OMIM:221770
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Broad-based gait, Abnormal medulla oblongata morp... ORPHA:206448
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Steppage gait, Difficulty walking, Onion bulb f... OMIM:606483
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, S... OMIM:614436
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118210
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Unsteady g... ORPHA:2932
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... OMIM:105550
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... OMIM:182815
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... ORPHA:2386
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Focal Cortical Dysplasia, Type Ii
Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Astrocytosis, Hemipares... OMIM:607341
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Neuromyelitis Optica Spectrum Disorder
Somatic sensory dysfunction, Functional abnormality of the bladder, Paraplegia, Optic neuritis, N... ORPHA:71211
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo... OMIM:169500
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... OMIM:249900
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... OMIM:611228
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... OMIM:615035
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Abnormal cerebellar ... ORPHA:101111
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity ORPHA:99014
Sandhoff Disease, Adult Form
Reduced beta-hexosaminidase activity, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dyston... ORPHA:309169
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Dec... ORPHA:101097
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia OMIM:615268
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:145900
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation, Gait ataxia ORPHA:98916
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... ORPHA:95434
Choreoathetosis, Familial Inverted
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance OMIM:118750
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Impaired pain sensation OMIM:167400
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination OMIM:616684
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Parastremmatic Dwarfism
Kyphosis, Scoliosis, Short neck OMIM:168400
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... ORPHA:401830
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... OMIM:248900
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Clonus, Microcephaly, Tetraplegia, Gliosis, Hypoplasia of the corpus cal... OMIM:614959
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:602433
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118200
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,... ORPHA:320370
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Paraparesis, Delayed my... OMIM:617854
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
L-2-Hydroxyglutaric Aciduria
Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpus callosum atrophy, ... OMIM:236792
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607250
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Truncal titubation, Abnormal cerebellum morphology, Ba... OMIM:610532
Amish Nemaline Myopathy
Tremor, Progressive muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:98902
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... ORPHA:98897
Microcephaly 10, Primary, Autosomal Recessive
Delayed CNS myelination, Small for gestational age, Reduced cerebral white matter volume, Simplif... OMIM:615095
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:98856
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... ORPHA:284332
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Cerebral cortex w... ORPHA:204
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... OMIM:607677
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Progressive proximal muscle weakness, Distal lower limb ... ORPHA:399096
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speec... OMIM:300423
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... OMIM:605285
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia OMIM:611694
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration OMIM:607731
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... ORPHA:217260
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Spastic paraplegia, Small for gestational age OMIM:300076
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... ORPHA:98811
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:118220
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Steppage gait, Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Hereditary Neuropathy With Liability To Pressure Palsies
Vocal cord paralysis, Paresthesia ORPHA:640
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:607706
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia OMIM:141500
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Alpha-B Crystallin-Related Late-Onset Myopathy
Progressive distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle... ORPHA:399058
Porphyria, Acute Hepatic
Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Horner Syndrome, Congenital
Paralysis OMIM:143000
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Spinocerebellar Ataxia Type 35
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... ORPHA:276193
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... OMIM:270550
Spinocerebellar Ataxia 11
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia OMIM:604432
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia OMIM:300857
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Chorea, Axonal... OMIM:604168
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal sensory impairment OMIM:614369
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... OMIM:607483
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Krabbe Disease
Optic atrophy, Reduced galactocerebrosidase activity, Hypertonia, Decerebrate rigidity, Progressi... OMIM:245200
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Decreased phosphoribosylpyrophosphate synthetase level, Segm... OMIM:311070
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... OMIM:614487
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor OMIM:608029
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Juvenile Amyotrophic Lateral Sclerosis
Neck flexor weakness, Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... ORPHA:300605
Desminopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... ORPHA:98909
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Poor fine motor coordination, Sick sinus syndrome, Bradycardia OMIM:617182
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Ataxia, Cachexia, Generalized muscle weakness, Weight loss,... OMIM:613662
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... OMIM:618876
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Progressive proximal muscle weakness, S... ORPHA:399103
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Neck muscle weakness, Tibialis... ORPHA:178400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... OMIM:618387
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tremor, Inability to wal... ORPHA:101077
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... ORPHA:171629
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Corpus callosum atrophy, Leukoencephalopathy, Bradykinesia, Abnormal cere... OMIM:221820
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Lichtenstein-Knorr Syndrome
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor OMIM:616291
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor OMIM:302500
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness, Hepatosplenomegaly OMIM:614885
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... ORPHA:521406
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Chorea, Benign Familial
Chorea OMIM:215450
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Steppage gait, Onion bul... OMIM:610100
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number of large peripheral myelinate... OMIM:271245
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Cerebrotendinous Xanthomatosis
Osteopenia, Abnormal tibia morphology, Axonal degeneration, Abnormal pyramidal sign, Abnormal fem... ORPHA:909
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Spinocerebellar Ataxia, Autosomal Recessive 14
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor OMIM:615386
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Astrocytosis, Gait disturbance, Myoclonus, Dystonia OMIM:600795
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Hemimegalencephaly
Focal cortical dysplasia, Pachygyria, Optic atrophy, Hemimegalencephaly, Hemiparesis, Gliosis, My... ORPHA:99802
Myopathy, Myofibrillar, 4
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... OMIM:609452
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Huntington Disease-Like 2
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Abnormal cerebral morp... ORPHA:98934
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Urinary in... OMIM:604360
Mitochondrial Dna Depletion Syndrome 18
Clonus, Axonal degeneration, Lacticaciduria, Falls, Tongue fasciculations OMIM:618811
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination ORPHA:99944
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... OMIM:615362
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Neurodegeneration, Gait dist... OMIM:615643
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Leukodyst... OMIM:617916
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebellar hyp... ORPHA:33445
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Microcephaly, Dysplastic corpus callosum, Tetraparesis, Tongue fasciculations, Dystonia, ... OMIM:618276
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:604563
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Tremor, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Involuntary movements OMIM:616939
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis, Steppage gait OMIM:302802
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:2815
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up... OMIM:613672
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... ORPHA:453521
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor OMIM:613728
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Muscle weakness, Fasciculations ORPHA:65684
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Optic atrophy, Abnormal pyramidal sig... OMIM:616680
Mitochondrial Membrane Protein-Associated Neurodegeneration
Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atro... ORPHA:289560
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... ORPHA:284324
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Peroneal muscle weakness, Proximal muscle weakness, Progressive muscle weakness, Gowers sign, Fre... OMIM:611588
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Rosenthal fibers, Spasticity, Abnormal cerebral white ... ORPHA:363717
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Riboflavin Transporter Deficiency
Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb muscle weakness, Muscle wea... ORPHA:97229
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... ORPHA:90103
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria... ORPHA:313772
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Demyelinating motor ne... OMIM:608804
Myopathy, Scapulohumeroperoneal
Neck flexor weakness, Facial palsy, Progressive muscle weakness, Wrist drop, Foot dorsiflexor wea... OMIM:616852
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Distal sensory impairment, Paralysis OMIM:613710
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... OMIM:605253
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Tremor, Progressive muscle weakness OMIM:605355
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Spastic Paraplegia 78, Autosomal Recessive
Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Babinski ... OMIM:617225
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Dysmetria,... OMIM:618090
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity OMIM:616494
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Laing Early-Onset Distal Myopathy
Distal muscle weakness, Progressive muscle weakness, Proximal muscle weakness in lower limbs, Nec... ORPHA:59135
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Spinocerebellar Ataxia 17
Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxi... OMIM:607136
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Spinocerebellar Ataxia Type 2
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... ORPHA:98756
X-Linked Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Axonal loss... ORPHA:1175
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Onion bulb formation... OMIM:608340
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Broad-based gait, Recurrent urinary tract inf... OMIM:609033
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Gowers sign, Progressive muscle weakness, Generalized muscle weakness, Ton... OMIM:620285
Isaacs Syndrome
Fasciculations, Muscle weakness, Weight loss ORPHA:84142
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertonia, Polycythemia, Abnormal blood inorganic cation concentration, Portal hypertension, Gai... ORPHA:309854
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance OMIM:609161
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... OMIM:616230
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... OMIM:617087
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor OMIM:620221
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Familial Dyskinesia And Facial Myokymia
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Stxbp1-Related Encephalopathy
Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Delayed myelination, S... ORPHA:599373
Myopathy And Diabetes Mellitus
Progressive proximal muscle weakness, Babinski sign, Progressive cerebellar ataxia, Shoulder gird... ORPHA:2596
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Dysmyelinating... OMIM:612319
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Charcot-Marie-Tooth Disease Type 4A
Impaired distal proprioception, Motor conduction block, Chronic axonal neuropathy, Limited interp... ORPHA:99948
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Upp... ORPHA:275864
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol... OMIM:256850
Developmental And Epileptic Encephalopathy 71
CNS demyelination, Gliosis, Simplified gyral pattern OMIM:618328
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Unsteady gait, Dysmetria, Gait ... OMIM:210000
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Lower limb spasticity, Cerebellar ve... ORPHA:98
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Spinocerebellar Ataxia Type 17
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Writer's cramp, Involuntary move... ORPHA:98759
Spastic Paraplegia 45, Autosomal Recessive
Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Optic atrop... OMIM:613162
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... ORPHA:157941
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, ... ORPHA:88628
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... OMIM:616811
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Joint laxity, Diabetes insipidus, Inability to walk, Astrocytosis, Difficulty walking, Slender build OMIM:611087
Butyrylcholinesterase Deficiency
Abnormal circulating enzyme concentration or activity, Paralysis ORPHA:132
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ataxia, Microcephaly, Partial agenesis of the corpus callosum, Cerebel... ORPHA:79243
Spastic Paraplegia 30, Autosomal Dominant
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Spasti... OMIM:610357
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Paraparesis, Fractures of the long bones, O... OMIM:602080
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis OMIM:616287
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Degeneration of anterior horn cells, Hy... OMIM:607596
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, External ophthalmoplegia, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, ... OMIM:614455
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... OMIM:250100
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,... ORPHA:478029
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria OMIM:619191
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... OMIM:617810
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk OMIM:619561
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ... ORPHA:100070
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Facial palsy, Proximal muscle weakness, Progressive proximal muscle weakness, Shoulder girdle mus... OMIM:167320
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Spastic Paraplegia, Ataxia, And Mental Retardation
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vibration sensation in... OMIM:607565
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... OMIM:601455
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Delayed CNS myelination, Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum... OMIM:620317
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Failure to thrive in ... ORPHA:254875
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dys... OMIM:612438
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Claw hand deformity, Distal sensory impairment, Steppa... OMIM:606595
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Limb ataxi... OMIM:616127
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance, Distal sensory impairment OMIM:616155
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Microcephaly, Tremor, Trunca... OMIM:300957
Diaminopentanuria
Ataxia, Cystinuria, Hyperlysinuria, Neurodegeneration, Spasticity OMIM:222350
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Demyelinating motor neuropathy, Progressive spastic paraparesis, Babins... ORPHA:506353
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... ORPHA:330050
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani... OMIM:620011
Huntington Disease
Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis OMIM:143100
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Pontocerebellar Hypoplasia, Type 4
Microcephaly, Hypertonia, Gliosis, Myoclonus, Spasticity OMIM:225753
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Progressive muscle weakness, Gowers... OMIM:600462
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Tremor, Dysmyelinating leukodys... ORPHA:137898
Arts Syndrome
Progressive muscle weakness, Ataxia, Tetraplegia OMIM:301835
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Microcephaly, Diffuse demyelination of the cerebral white matter, ... ORPHA:168486
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Absent urinary u... OMIM:252150
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Infantile Refsum Disease
Ataxia, Facial palsy, Progressive muscle weakness, Spasticity, Failure to thrive ORPHA:772
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... ORPHA:276435
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Short stature, Confluent hyperintensity of cerebral white matter o... ORPHA:280210
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... ORPHA:363722
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... ORPHA:542306
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment OMIM:600223
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... ORPHA:98755
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Paraparesis, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoat... ORPHA:27
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Congenital Muscular Dystrophy Due To Lmna Mutation
Poor head control, Cachexia, Axial muscle weakness ORPHA:157973
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... ORPHA:71517
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Spasticity, Cardiac arrest OMIM:618235
Duchenne Muscular Dystrophy
Progressive muscle weakness, Proximal muscle weakness ORPHA:98896
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed CNS myelination, Clonus, Microcephaly, Rigidity, Babinski sign, Optic atrophy, Hypertonia... OMIM:614498
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS... OMIM:607694
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Muscle weakness, Tongue fasciculations, Hand tremor OMIM:253550
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Distal Myotilinopathy
Progressive proximal muscle weakness, Progressive distal muscle weakness ORPHA:98911
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ... OMIM:615512
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... ORPHA:79263
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Short neck, Kyphosis, Hyperlordosis, Scoliosis OMIM:300718
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy... OMIM:619862
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus OMIM:619028
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Spasticity OMIM:616277
Marinesco-Sjogren Syndrome
Ataxia, Progressive muscle weakness, Limb ataxia, Gait ataxia, Spasticity, Failure to thrive OMIM:248800
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Total ophthalmoplegia, Resting tremor, Progressive external ophthalmoplegia, Neck flexor weakness... OMIM:157640
Mulibrey Nanism
Cachexia ORPHA:2576
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para... ORPHA:100988
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Babinski sign... OMIM:608703
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Molybdenum Cofactor Deficiency, Complementation Group B
Diffuse cerebral atrophy, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria,... OMIM:252160
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Proximal muscle weakness, Progressive muscle weakness, Generalized muscle w... OMIM:620249
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at... ORPHA:352403
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... OMIM:613647
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... OMIM:117360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Prune1-Related Neurological Syndrome
Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Delayed myelination, Optic a... ORPHA:544469
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Urinary incontinence, Axonal degeneration, Diaphragmatic paralysi... OMIM:604320
Leigh Syndrome
Ataxia, Optic atrophy, Focal substantia nigra T2 hyperintensity, Gliosis, Dystonia, CNS demyelina... OMIM:256000
Leukoencephalopathy With Vanishing White Matter 1
Cessation of head growth, Optic atrophy, Leukoencephalopathy, CNS demyelination, Gliosis, Cerebra... OMIM:603896
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
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Spinocerebellar Ataxia, Autosomal Recessive 27
Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Spasticity, Frequent fa... OMIM:618369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Axonal degeneration, Elevated circulating creatine kinase concentration OMIM:618138
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Small for gestational age, Clonus, Short stature, Microcephaly, Primary microceph... OMIM:619847
Tetanus
Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Bradycardia, Spasticity of... ORPHA:3299
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Gait disturbance, Brain atrophy, Loss of ambulation, Myelin ... OMIM:615284
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Renal dysplasia, Abnormal renal corticomedullary differentiation, Oligo... OMIM:616733
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Adrenomyeloneuropathy
Peripheral axonal degeneration, Urinary incontinence, Cerebral dysmyelination, Atrophy/Degenerati... ORPHA:139399
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Orthostatic hypotension, Abnormal substantia nigra morphology, Atax... ORPHA:2822
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor OMIM:606438
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral atrophy, Choreoathetosis, Gait d... ORPHA:391417
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness OMIM:619024
Spinocerebellar Ataxia, Autosomal Recessive 26
Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Limb ataxia, ... OMIM:617633
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Finnish Upper Limb-Onset Distal Myopathy
Progressive proximal muscle weakness, Progressive distal muscle weakness, Clumsiness ORPHA:399086
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Recurrent fractures, Babinski sign, Spastic paraplegia, Limb fasci... ORPHA:329475
Muscular Dystrophy, Congenital, With Or Without Seizures
Ataxia, Proximal muscle weakness, Progressive muscle weakness, Frequent falls, Muscle weakness OMIM:620166
Moynahan Syndrome
Short stature, Cachexia, Microcephaly ORPHA:2574
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Ataxia, Muscle weakness OMIM:618951
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... ORPHA:99947
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Gowers sign, Generalized muscl... ORPHA:254361
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Involuntary movements, Chorea, Generalized muscle weakness, Paroxysmal dyskinesia... OMIM:606703
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bilateral basal ganglia lesions, Lower limb spasticity, Gliosis, Microcephaly OMIM:615119
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Pontocerebellar Hypoplasia, Type 2A
Microcephaly, Chorea, Optic atrophy, Opisthotonus, Abnormal cerebral white matter morphology, Gli... OMIM:277470
Spastic Paraplegia 20, Autosomal Recessive
Flexion contracture, Dysmetria, Upper limb spasticity, Knee clonus, Spastic paraparesis, Cerebell... OMIM:275900
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Spastic Paraplegia 50, Autosomal Recessive
Optic disc pallor, Cerebral palsy, Ataxia, Microcephaly, Babinski sign, Spastic tetraplegia, Glio... OMIM:612936
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Distal muscle weakness, Ataxia, Proximal muscle weakness, Tremor, External ophthalmoplegia OMIM:618637
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Waddling gait, Hip contracture, Lower limb spasticity, Broad-based gait, Elevated circulating cre... OMIM:615290
Spastic Paraplegia 70, Autosomal Recessive
Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, Fasciculations, Spasticity OMIM:620323
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Myoclonus, Bradycardia, Opisthotonus OMIM:619814
Glutaric Acidemia I
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... OMIM:231670
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Developmental And Epileptic Encephalopathy 82
Cerebellar vermis hypoplasia, Inability to walk, Spastic tetraplegia, Cerebral atrophy, Spastic p... OMIM:618721
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy OMIM:300983
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... OMIM:616688
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, T-wave inversion, Bradycardia, Shuffling ... ORPHA:228346
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Incoordination, Ataxia, Limb joint contracture, Reduced beta-hexosaminidase a... ORPHA:309162
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, 2-3 f... ORPHA:3152
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Cerebellar atrophy, Ataxia, Paralysis, Jaun... OMIM:203700
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Abnormality of extrapyramidal motor function, Myoclonus, Cerebral atrophy OMIM:604218
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Juvenile Huntington Disease
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... ORPHA:248111
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Proximal muscle weakness, Tremor, Gowers sign, Respiratory insufficiency due to mus... OMIM:159950
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Christianson Syndrome
Cachexia, Microcephaly, Truncal ataxia, Aplasia/Hypoplasia of the corpus callosum, Gait ataxia, D... ORPHA:85278
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atrophy/Degeneration ... ORPHA:99852
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Abn... ORPHA:254930
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tapered finger, Tremor, Cerebellar glio... OMIM:616505
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Abnormality of extrapyramidal motor function, Bradycardia, Spast... OMIM:616299
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... OMIM:609286
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... ORPHA:333
Myoclonic Epilepsy, Familial Infantile
Ataxia, Impaired tandem gait, Limb ataxia, Gait ataxia OMIM:605021
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Overweight, Cranial hyperostosis, ... ORPHA:457240
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Microcephaly, Babinski sign, CNS hypomyelination, Facial diplegia, Hypoplasia of the co... OMIM:618186
De Sanctis-Cacchione Syndrome
Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy, Babinski sign, Choreo... OMIM:278800
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... OMIM:619738
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... ORPHA:35689
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... OMIM:615491
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Progressive external ophthalmoplegia, Progressi... ORPHA:663
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... OMIM:609136
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spastic tetraparesis, Progressi... ORPHA:496756
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Polyhydramnios, Paralysis, Cerebral atrophy, Facial diplegia OMIM:616286
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia ORPHA:306669
Autosomal Recessive Centronuclear Myopathy
Facial palsy, Progressive muscle weakness, Gowers sign, Ophthalmoplegia, Ophthalmoparesis, Facial... ORPHA:169186
Coasy Protein-Associated Neurodegeneration
Peripheral axonal neuropathy, Parkinsonism, Difficulty walking, Spastic paraparesis, Oromandibula... ORPHA:397725
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... OMIM:238970
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Ataxia, Delayed peripheral myelination, Puberty and gonadal... ORPHA:464282
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
East Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Renal salt wasting, Renal magnesium was... ORPHA:199343
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Parkinsonism With Polyneuropathy
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:619279
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte co... ORPHA:79124
Adrenoleukodystrophy
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Primary adrenal insufficiency, L... OMIM:300100
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Ataxia, Tremor, Progressive muscle weakness, Myoclonus, Right hemiplegia, Anemia OMIM:607426
Variegate Porphyria
Paralysis OMIM:176200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Chorea, Ataxia OMIM:618683
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Peripheral axonal neuropathy, Hypertrigly... OMIM:205400
Machado-Joseph Disease
Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb atax... OMIM:109150
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Microcephaly, Short stature, Optic atrophy, Chore... ORPHA:702
Spinocerebellar Ataxia 34
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... OMIM:133190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Combined Saposin Deficiency
Splenomegaly, Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations, CN... OMIM:611721
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... ORPHA:43
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Joint stiffness, Rigidity, Chorea, Choreoathetosis, Hyperkine... ORPHA:98810
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration OMIM:610951
Autosomal Dominant Spastic Paraplegia Type 73
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Progressive spastic para... ORPHA:444099
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... OMIM:614298
Multiple Sulfatase Deficiency
Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Spasticity, Peripheral demyelina... OMIM:272200
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... OMIM:218000
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block, Truncal ataxia, Intention tremor OMIM:614407
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Hyperostosis Corticalis Generalisata
Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology... ORPHA:3416
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Polymicrogyria, Hypoplasia o... OMIM:604213
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Gliosis OMIM:613002
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Mitochondrial Neurogastrointestinal Encephalomyopathy
Peripheral axonal neuropathy, Cachexia, Demyelinating peripheral neuropathy, Decreased number of ... ORPHA:298
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomy... OMIM:614381
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Gait disturbance, Fasciculati... ORPHA:466768
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence, Demyelinating motor neuropathy, Impaired proprioception, Hand tremor, Gait ... ORPHA:101085
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Small for gestational age, Microcephaly, Basal ganglia calcification, D... OMIM:214150
Papular Xanthoma
Histiocytosis ORPHA:158008
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Clavicular sclerosis, Abnorm... ORPHA:2790
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Brachial plexus neuropathy, Axonal degeneration OMIM:162100
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Scoliosis, Spinal rigidity OMIM:618323
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Cerebral dysmyelination, Microcephaly OMIM:201550
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... OMIM:617013
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... OMIM:128100
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... OMIM:618285
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... ORPHA:228360
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... ORPHA:93952
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... OMIM:600081
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Microcephaly, Cerebral atrophy, Hypertonia, Hypoplasia of... OMIM:616801
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Bradycardia OMIM:614654
Spinocerebellar Ataxia Type 36
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... ORPHA:276198
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Arachnoid Cyst
Encephalocele, Facial palsy, Abnormality of the endocrine system, Paraparesis, Cranial nerve comp... ORPHA:2356
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... ORPHA:289494
Dk1-Cdg
Progressive muscle weakness, Failure to thrive ORPHA:91131
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Hyperglutamatemia, Generalized dystonia, Spastic tetraparesis, Pa... OMIM:620358
Fatty Acid Hydroxylase-Associated Neurodegeneration
Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... ORPHA:329308
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Neuroge... ORPHA:276244
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... ORPHA:529665
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Abnormal circulating enzyme concentration ... ORPHA:2590
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis OMIM:619470
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Decreased circulating parathyroid hormo... OMIM:241530
Eiken Syndrome
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... ORPHA:79106
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Failure to thrive OMIM:619518
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... ORPHA:542310
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... ORPHA:98772
Pulmonary Blastoma
Weight loss ORPHA:64741
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Ataxia, Cachexia, Abnormal lactate dehydrogenase level, Decreased ... ORPHA:42
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Optic ner... OMIM:222765
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking ORPHA:477673
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ... OMIM:271630
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Elevated circulating creatine kinase concentration, Cranial nerve compression, Ost... ORPHA:52430
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia ORPHA:93941
Parkinson Disease, Late-Onset
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... OMIM:168600
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... OMIM:607080
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Second degree atrioventricular block, Syncope, Palpitations, Difficulty walkin... OMIM:616812
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Hypochromic... ORPHA:3240
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... ORPHA:90117
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Axonal loss, Steppage gait, Gait disturbance OMIM:118300
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia ORPHA:52503
Primary Non-Essential Cutis Verticis Gyrata
Periventricular leukomalacia, Gliosis, Microcephaly ORPHA:357225
Griscelli Syndrome, Type 2
Spasticity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Bethlem Myopathy 2
Kyphosis, Scoliosis OMIM:616471
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Pharyngeal edema, Intestinal edema, Periorbital edema, Hypoesthesia... OMIM:106100
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, A... ORPHA:2585
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, Br... ORPHA:399
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:264700
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressiv... ORPHA:845
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Limb muscle weak... OMIM:610131
Spinocerebellar Ataxia 2
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Ba... OMIM:183090
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... ORPHA:280219
Infantile Krabbe Disease
Lower limb spasticity, Poor head control, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus,... ORPHA:206436
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Cerebral calcification, Microcephaly, Tremor, Splenomegaly, Rigidity, Leukodyst... OMIM:615010
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Tremor, Rigidity, N... OMIM:601104
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal pyramid... OMIM:614833
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... OMIM:277440
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus OMIM:612016
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... OMIM:619725
Spinocerebellar Ataxia 6
Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,... OMIM:183086
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Impaired distal proprioception, Decreased number of large peri... OMIM:162400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Spastic tetraplegia, Tetraplegia, Hypertonia, Gliosis, Cerebral edema OMIM:608033
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Myoclonus, Peripheral dysmyelination, Neuronal loss in central... OMIM:260565
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,... OMIM:616981
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... OMIM:604391
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating crea... OMIM:610717
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Tuberculosis
Weight loss ORPHA:3389
Winchester Syndrome
Kyphosis OMIM:277950
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Gorham-Stout Disease
Osteopenia, Torticollis, Abnormal pelvis bone morphology, Osteomyelitis, Elevated alkaline phosph... ORPHA:73
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Corpus callosum atrophy, Abnormal pons morphology, Atrophy/Degeneration... ORPHA:77299
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cerebral calcification, Short stature, Ataxia, Cachexia, Microcephaly ORPHA:1933
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar atax... ORPHA:254881
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... ORPHA:401768
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Ataxia, Cardiomyopathy ORPHA:3222
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Wolman Disease
Anemia, Splenomegaly, Cachexia, Bone-marrow foam cells ORPHA:75233
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Bradycardia, Spasticity OMIM:614702
Leigh Syndrome
Chorea, Choreoathetosis, Encephalomalacia, Gliosis, Leukodystrophy, Neutropenia, Focal T2 hyperin... ORPHA:506
Spinocerebellar Ataxia 21
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Akinesia, Lim... OMIM:607454
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa... OMIM:615889
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Machado-Joseph Disease Type 1
Cerebellar atrophy, Neurogenic bladder, Substantia nigra gliosis, Facial-lingual fasciculations, ... ORPHA:276238
Machado-Joseph Disease Type 2
Cerebellar atrophy, Neurogenic bladder, Substantia nigra gliosis, Facial-lingual fasciculations, ... ORPHA:276241
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Clonus, Impaired pain sensation, Abnormal spinal cord morphology, Spastic par... ORPHA:139578
Lissencephaly, X-Linked, 2
Gliosis, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callosum OMIM:300215
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal astrocyte morphology, Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic parap... ORPHA:83629
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Ataxia, Severe demyelination of the white matter,... ORPHA:79282
Mannosidosis, Alpha B, Lysosomal
Corpus callosum atrophy, Splenomegaly, Delayed myelination, Vacuolated lymphocytes, Abnormal pyra... OMIM:248500
Spinocerebellar Ataxia, Autosomal Recessive 11
Gait disturbance, Ataxia, Limb ataxia, Truncal ataxia OMIM:614229
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Chorea, Hyperkinetic movements, Truncal ataxia ORPHA:369847
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Osteosarcoma
Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration... ORPHA:668
Baker-Gordon Syndrome
Joint laxity, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic mov... OMIM:618218
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Combined Oxidative Phosphorylation Deficiency 24
Microcephaly, Optic atrophy, CNS hypomyelination, Gliosis, Hypoplasia of the corpus callosum, Spa... OMIM:616239
Bethlem Myopathy
Reduced maximal expiratory pressure, Distal muscle weakness, Limb-girdle muscle weakness, Gowers ... ORPHA:610
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... ORPHA:3344
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Axonal lo... ORPHA:404454
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Slurred speech, Dysmet... ORPHA:284289
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia OMIM:619422
Hereditary Late-Onset Parkinson Disease
Resting tremor, Lewy bodies, Parkinsonism, Rigidity, Weight loss, Bradykinesia, Gliosis, Dystonia... ORPHA:411602
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... ORPHA:101076
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Charcot-Marie-Tooth Disease Type 4C
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... ORPHA:99949
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking OMIM:615575
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia OMIM:619556
Congenital Fiber-Type Disproportion Myopathy
Poor head control, Respiratory insufficiency due to muscle weakness, Progressive muscle weakness,... ORPHA:2020
Rett Syndrome
Short stature, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Secondary microcephaly, Dysto... OMIM:312750
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Flynn-Aird Syndrome
Cerebral calcification, Ataxia, Cerebral cortical atrophy, Cachexia ORPHA:2047
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... ORPHA:442835
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia OMIM:614867
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination ORPHA:101082
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Cerebellar atrophy, Ataxia, Polyuria, Renal salt wasting, Enuresis, Intention tremor, Dysdiadocho... OMIM:612780
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Hydroceph... ORPHA:2635
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Abnormal pyramidal sign, Gliosis OMIM:256600
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 14
Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Anemia, Growth delay, Gliosis, Myoclonu... OMIM:614946
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... ORPHA:99027
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Microtriplication 11Q24.1
Speech apraxia, Metatarsus adductus, Hyperlipidemia, Limitation of joint mobility, Small hand, Ob... ORPHA:289522
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal sign, Abnormal brainstem morphology, Ab... ORPHA:79279
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb... OMIM:164400
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Delayed CNS myelination, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro... OMIM:617710
Lissencephaly Due To Tuba1A Mutation
Agyria, Optic nerve hypoplasia, Microcephaly, Hypoplastic anterior limbs of the internal capsule,... ORPHA:171680
Myopathy With Extrapyramidal Signs
Clonus, Elevated circulating creatine kinase concentration, Tremor, Chorea, Choreoathetosis, Cere... OMIM:615673
Atypical Rett Syndrome
Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol... ORPHA:3095
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ... ORPHA:98889
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Gm1-Gangliosidosis, Type Ii
Ataxia, Coxa valga, Joint stiffness, Splenomegaly, Optic atrophy, Spastic tetraplegia, Decreased ... OMIM:230600
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski sign, Optic atrophy, ... OMIM:252650
Nephrotic Syndrome, Type 2
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:600995
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Illum Syndrome
Bradycardia OMIM:208155
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance OMIM:603472
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis... ORPHA:970
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... ORPHA:52368
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Gaucher Disease, Type Iii
Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Decreased beta-glucocerebrosidase level, Decreased... OMIM:231000
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Leukodystrophy, Intention tremor, Joint laxity, Ataxia, Overweight, Obesity, ... OMIM:619475
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Optic disc pallor, Peripheral axonal neuropathy, Splenomegaly, Den... ORPHA:90324
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Ataxia, Elevated circulating creatine kinase concentration, Ankle ... OMIM:608799
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... OMIM:300623
Coproporphyria, Hereditary
Hypertension, Tachycardia, Respiratory paralysis OMIM:121300
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Gm1 Gangliosidosis
Tremor, Decreased beta-galactosidase activity, Decerebrate rigidity, Ataxia, Hepatosplenomegaly, ... ORPHA:354
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis OMIM:613239
Combined Oxidative Phosphorylation Deficiency 54
Optic disc pallor, Tremor, Dysplastic corpus callosum, Obesity, Hemiparesis, Hypertonia, Secondar... OMIM:619737
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Elevated alkaline phosphatase of bone origin, Osteomalacia, Irregular, rachitic... ORPHA:289157
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Ataxia, Cerebral atrophy OMIM:614116
Valinemia
Hypervalinemia, Failure to thrive, Hyperkinetic movements OMIM:277100
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... ORPHA:458803
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Spi... OMIM:162210
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Microcephaly, Spastic tetraplegia, Hypoplasia of the corpus callosum, Se... ORPHA:371364
Renpenning Syndrome
Growth delay, Severe short stature, Cachexia, Microcephaly ORPHA:3242
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Inability to walk, Flexion contracture, Astrocytosis, Highly elevated creatine kina... ORPHA:258
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Pontocerebellar Hypoplasia, Type 1D
Cerebellar atrophy, Multiple joint contractures, Flexion contracture, Tongue fasciculations, Fasc... OMIM:618065
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Neuroferritinopathy
Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, C... ORPHA:157846
Mitochondrial Complex I Deficiency, Nuclear Type 37
Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial hypertension OMIM:619272
Poliomyelitis
Stiff neck, Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Inability to walk, ... ORPHA:2912
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Acute Transverse Myelitis
Impaired vibratory sensation, Orthostatic hypotension, Somatic sensory dysfunction, Decreased cir... ORPHA:139417
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Increased ... ORPHA:216866
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Dyst... OMIM:606002
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... ORPHA:2204
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... ORPHA:2821
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr... ORPHA:1192
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Babinski sign, Ankle clonus, Tip-toe gait, Bradycar... ORPHA:565624
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Foxg1 Syndrome
Dystonia, Inability to walk, Delayed myelination, Choreoathetosis, Hyperkinetic movements, Myoclo... ORPHA:561854
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip... OMIM:619795
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Dystonia, Lewy bodies OMIM:168601
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Elevated circulating creatine kinase concentration, Distal sensory impairment, Neuromyotonia, Fas... OMIM:137200
Ck Syndrome
Abnormal cortical bone morphology, Slender build, Abnormal digit morphology, Joint hypermobility OMIM:300831
Progressive Supranuclear Palsy
Tremor, Rigidity, Blepharospasm, Bradykinesia, Gliosis, Dystonia, Cerebral cortical atrophy ORPHA:683
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Edema, Act... OMIM:254900
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Focal Segmental Glomerulosclerosis 6
Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis... OMIM:614131
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Limb-girdle muscle weakness, Progressive muscle weakness, Increased body weight, Pe... ORPHA:79240
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Elevated carcinoembryonic antigen level, Weight loss, Increas... ORPHA:100083
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait a... OMIM:618321
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis ORPHA:3454
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Neck flexor weakness, Gowers sign, Upper limb muscle weakness, Fr... ORPHA:353
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... ORPHA:249
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Rigidity, Splenomegaly, Athetosis, Sea-blue histiocyto... OMIM:257200
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Broad-based gait, Diabetes mellitus, Small for gestational age, Down-sloping should... ORPHA:391408
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Ataxia-Telangiectasia-Like Disorder 2
Progressive muscle weakness, Ataxia, Muscle weakness OMIM:615919
Isolated Succinate-Coq Reductase Deficiency
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Knee flexion contracture, Lower limb hy... ORPHA:3208
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e... OMIM:265900
Glycosylphosphatidylinositol Biosynthesis Defect 17
Growth delay, Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Decreased succinic semialdehyde dehydrogenas... OMIM:271980
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Microcephaly, Optic atrophy, CNS hypomye... OMIM:617193
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Elevated circulating creatine kinase concentration, Elevated... ORPHA:64753
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclon... OMIM:614254
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, 4-5 toe syndactyly, Unst... ORPHA:3041
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Weight loss ORPHA:141152
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D... ORPHA:75567
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Familial Acute Necrotizing Encephalopathy
Rigidity, Abnormal putamen morphology, Spastic tetraplegia, Hypertonia, Gliosis, Spasticity, Cere... ORPHA:88619
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Rocker bottom foot, Ankle flexion contracture, Flexion contracture, Hip dislocat... ORPHA:1143
Gm1-Gangliosidosis, Type Iii
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Oculodentodigital Dysplasia
Ataxia, Paraparesis, 4-5 finger syndactyly, Hip dislocation, Spasticity, Tetraparesis, Joint cont... OMIM:164200
Focal Segmental Glomerulosclerosis 1
Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:603278
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Bulbar palsy, Limb muscle weakness, Fasciculations OMIM:313200
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Elevated circulating alkaline phosphatase concentration, Pa... OMIM:174810
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Proximal muscle weakness in lower limbs, Progressive proximal muscle weakness, Distal upper limb ... OMIM:620138
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia, Tongue fasciculations OMIM:608800
Glossopharyngeal Neuralgia
Dysesthesia, Vocal cord paralysis, Jaw claudication, Syncope, Bradycardia ORPHA:221098
Cystathioninuria
Tremor ORPHA:212
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Decreased methionine synthase activ... OMIM:236270
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Overlapping toe,... OMIM:618598
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Cerebral atrophy, Gliosis, Limb dystonia, Basal ganglia gliosis, ... OMIM:604377
Ataxia-Telangiectasia
Elevated hepatic transaminase, Failure to thrive, Diabetes mellitus, Ataxia, Tremor, Decreased ci... ORPHA:100
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Pick Disease Of Brain
Gliosis OMIM:172700
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Gliosis, Parkinsonism OMIM:606688
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Splenomegaly, Progressive muscle weakness, Increased body weig... ORPHA:264580
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Delayed CNS myelination, Involuntary movements, Chorea, Athetosis, Hyperkinet... OMIM:617493
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati... ORPHA:320375
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Corpus callosum atrophy, Sudanophilic leukodystrophy, Abnormal pyramidal... OMIM:260600
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor, Cold paresis, Upper limb muscle weakness, Fasciculations ORPHA:99965
Focal Myositis
Muscle weakness, Weight loss ORPHA:48918
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Short third metatarsal, Elevated circulating creatine kinase concentration, Camptodactyly of fing... ORPHA:324442
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Majeed Syndrome
Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic anemi... ORPHA:77297
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Shuffling gait ORPHA:3077
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Spastic Paraplegia 9B, Autosomal Recessive
Urinary incontinence, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Impaire... OMIM:616586
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Increased circulating... ORPHA:100024
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycle metabolism, ... ORPHA:255210
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Ataxia, Involuntary movements, Limb joint contracture, Rigidity, Chorea, Babin... OMIM:617282
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
D-Glyceric Aciduria
Spastic tetraplegia, Opisthotonus, Myoclonus, Bradycardia, Spasticity OMIM:220120
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Chore... OMIM:612164
Idiopathic Achalasia
Weight loss ORPHA:930
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Inability to walk, Babinski sign, CNS hypomyelination, Gait disturbance, D... ORPHA:280229
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Babinski sign, D... ORPHA:88644
Crigler-Najjar Syndrome Type 1
Tremor, Prolonged neonatal jaundice ORPHA:79234
Cockayne Syndrome B
Cerebellar calcifications, Ataxia, Small for gestational age, Abnormal peripheral myelination, Ab... OMIM:133540
Ddost-Cdg
Elevated hepatic transaminase, Tremor, Oromotor apraxia, CNS hypomyelination, Failure to thrive ORPHA:300536
Desmoplastic Small Round Cell Tumor
Cachexia, Anemia, Weight loss ORPHA:83469
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Classic Hodgkin Lymphoma
Ataxia, Splenomegaly, Osteolysis, Weight loss, Bone marrow hypocellularity ORPHA:391
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... ORPHA:363400
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H... OMIM:105210
Polymicrogyria With Optic Nerve Hypoplasia
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... ORPHA:250972
Whipple Disease
Ataxia, Cachexia, Splenomegaly, Abnormal pyramidal sign, Myoclonus, Muscle weakness, Anemia ORPHA:3452
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis ORPHA:2598
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Kleefstra Syndrome Due To A Point Mutation
Short stature, Microcephaly, Large for gestational age, Abnormal cerebral white matter morphology... ORPHA:261652
Grant Syndrome
Bowing of the long bones, Joint hyperflexibility, Abnormal pelvic girdle bone morphology, Abnorma... ORPHA:2097
Cronkhite-Canada Syndrome
Splenomegaly, Cachexia, Anemia ORPHA:2930
Sandhoff Disease
Kyphosis ORPHA:796
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Insulin-resistant diabetes mellitus, Weight loss, Increased circulating ant... ORPHA:411593
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus OMIM:619092
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Postural tremor, Short stature, Microcephaly, Splenomegaly, Babinski sign, Neuronal loss ... OMIM:301072
Cockayne Syndrome A
Abnormal peripheral myelination, Tremor, Ivory epiphyses of the phalanges of the hand, Square pel... OMIM:216400
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Combined Oxidative Phosphorylation Deficiency 53
Short stature, Dysplastic corpus callosum, Hypochromic microcytic anemia, CNS hypomyelination, Se... OMIM:619423
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Microcephaly, Tremor, Cerebral atrophy, Choreoathetosis, Basal ganglia... OMIM:312170
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Slender long bone, M... ORPHA:2774
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... ORPHA:391428
Waardenburg Syndrome, Type 4A
Ataxia, Aganglionic megacolon, Leukodystrophy, Spastic paraparesis OMIM:277580
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Anemia ORPHA:33355
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Lower limb spasticity, Elevated circulating creatine kina... OMIM:613954
Kanzaki Disease
Peripheral axonal neuropathy, Lymphedema, Increased urinary O-linked sialopeptides, Axonal degene... OMIM:609242
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Dystonia, Ataxia, Small for gestational age, Cerebellar vermis hypoplasia, Tremor, Dysmetria, Hyp... OMIM:220111
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Muscle weakness, Anemia OMIM:175500
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro... ORPHA:507
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Delayed CNS myelination, Spastic tetraparesis, P... OMIM:619487
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Cerebellar v... OMIM:617988
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Vocal cord paralysis, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia OMIM:618497
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Delayed CNS myelination, Pain insensitivity, Involuntary movements... OMIM:615273
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Muscle weakness, Periodic paralysis OMIM:188580
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Gliosis, Apraxia, Lewy bodie... OMIM:607485
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Optic Atrophy 11
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atroph... OMIM:617302
Aredyld Syndrome
Splenomegaly, Short stature, Cachexia, Intrauterine growth retardation ORPHA:1133
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... OMIM:272750
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Oculodentodigital Dysplasia
Clinodactyly, Aplasia/Hypoplasia of the cerebellum, Clinodactyly of the 5th finger, Finger syndac... ORPHA:2710
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Small for gestational age, Anemia, Intrauterine growth retardation OMIM:620135
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Clonus, O... ORPHA:370959
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Hereditary Hyperekplexia
Ataxia, Joint stiffness, Rigidity, Hip dislocation, Hypertonia, Gait disturbance, Myoclonus, Fasc... ORPHA:3197
Tetrasomy 12P
Short stature, Cachexia ORPHA:884
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Abnormal cortical gyration, Dysplastic corpus callosum, Babinski sign, Chore... ORPHA:2524
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Acute hepatitis, Thrombocytopenia, Splenome... ORPHA:905
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Optic atrophy, Spasticity, Demyelinating peripheral neuropathy ORPHA:220295
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Inability to walk, Elbow flexion contracture, Fasciculations, Elevated circulating creatine kinas... ORPHA:206546
Sialidosis Type 2
Ataxia, Tremor, Hydrops fetalis, Pedal edema, Nephropathy, Ascites ORPHA:87876
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Thyroiditis, Wei... OMIM:212750
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... OMIM:146500
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo... ORPHA:1842
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Platyspondyly, Thoracolumbar scoliosis OMIM:313420
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Galactose Epimerase Deficiency
Jaundice, Weight loss ORPHA:79238
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... ORPHA:168563
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Cachexia ORPHA:1876
Rift Valley Fever
Elevated hepatic transaminase, Paralysis, Paraparesis, Thrombocytopenia, Jaundice, Hepatitis, Hem... ORPHA:319251
Fetal Akinesia Deformation Sequence 4
Kyphosis, Short neck OMIM:618393
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... ORPHA:324964
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Cachexia, Poor coordination, Optic atrophy, Failure to thrive OMIM:610965
Rhabdoid Tumor
Cerebral palsy, Oculomotor nerve palsy, Weight loss, Anemia, Hemiplegia, Thrombocytopenia ORPHA:69077
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Peripheral axonal neuropathy, Decreased circulating cortisol level, Ataxia... ORPHA:139396
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... ORPHA:314404
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... ORPHA:94080
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Sneddon Syndrome
Tremor, Chorea, Hemiparesis, Muscle weakness ORPHA:820
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... ORPHA:13
Spinocerebellar Ataxia 36
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... OMIM:614153
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168605
Cockayne Syndrome
Cerebral calcification, Basal ganglia calcification, Progressive gait ataxia, Hypertonia, Gliosis... ORPHA:191
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Sandal gap, Tremor, Small hand, Gait ataxia, Short foot, Abdominal obesity, Hypogon... OMIM:300354
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... OMIM:619574
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Rigidity, Opisthotonus, Hypertension, Myoclonic spasms... OMIM:184850
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dystonia, Loss of am... ORPHA:2388
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia OMIM:619317
Familial Cervical Artery Dissection
Paresthesia, Paralysis ORPHA:36382
Snakebite Envenomation
Edema, Paralysis, Angioedema, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney injury ORPHA:449285
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Wide anterior fontanel, Hydrocephalus, Hepatic failure, CNS demyel... OMIM:614886
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia ORPHA:36387
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra... OMIM:612073
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Cerebral palsy, Microcephaly, Dysplastic corpus callosum, Simplified gyr... OMIM:620001
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Hepatosplenomegaly, Granuloma, Hemophagocytosis, Failure to thrive OMIM:619858
Poems Syndrome
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Sclerosis of foot bone, Metaphyseal scler... ORPHA:2905
Pachydermoperiostosis
Cerebral palsy, Osteomyelitis, Elevated circulating growth hormone concentration, Impaired temper... ORPHA:2796
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... ORPHA:48818
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Distal muscle weakness, Ataxia, Progressive muscle weakness, Dystonia, Failure to thrive OMIM:256810
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Failure to thrive, Muscle weakness OMIM:617744
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Xerostomia, Neurodegeneration, Sp... ORPHA:803
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Progressive proximal muscle weakness, Obesity, Abnormal granulocyte morphology, Shoulder ... ORPHA:98907
Neuroleptic Malignant Syndrome
Tachycardia, Extrapyramidal muscular rigidity, Pulmonary embolism, Tremor, Chorea, Hypertension, ... ORPHA:94093
Leukodystrophy, Hypomyelinating, 10
Arachnodactyly, Inability to walk, Babinski sign, CNS hypomyelination, Hyperkinetic movements, Le... OMIM:616420
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Congenital Myopathy 22A, Classic
Waddling gait, Frequent falls, Tricuspid regurgitation, Bradycardia OMIM:620351
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Hypomethioninemia, Abnormal circulating enzyme concentration or activity, ... ORPHA:395
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Tachycardia, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Oculopharyngodistal Myopathy 3
Ataxia, Tremor, Ophthalmoplegia, Neck muscle weakness, Limb muscle weakness OMIM:619473
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Ataxia, Tremor, Metaphyseal sclerosis, Thrombocytopenia, Ab... OMIM:612199
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Malignant Hyperthermia, Susceptibility To, 1
Rigidity, Tachycardia, Hypotension OMIM:145600
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Nephrotic Syndrome, Type 6
Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm... OMIM:614196
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Ataxia, Hypogonadotropic hypogonadism, Abnormal ce... ORPHA:35687
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Hypertriglyceridemia, Edema, Minimal chang... ORPHA:567548
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Bradykines... ORPHA:93256
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300554
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Oculopharyngodistal Myopathy 4
Tremor, External ophthalmoplegia, Distal muscle weakness, Postural tremor OMIM:619790
19Q13.11 Microdeletion Syndrome
Cachexia, Microcephaly, Growth delay, Intrauterine growth retardation, Failure to thrive ORPHA:217346
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Obesity, Sec... ORPHA:813
X-Linked Intellectual Disability, Cabezas Type
Short stature, Cachexia, Microcephaly, Tremor, Obesity ORPHA:85293
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 12
Delayed CNS myelination, Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoen... OMIM:614924
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Congenital hip dislocation, Ataxia, Elevated circulating creatine kinase conc... ORPHA:496641
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Weakness due to upper motor neuron dysfunctio... ORPHA:79139
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Polyhydramnios, Partial agenesis of the corpus callosum, Optic atrophy, Vocal... ORPHA:500144
Autosomal Recessive Spastic Paraplegia Type 20
Speech apraxia, Impaired vibratory sensation, Abnormal thumb morphology, Abnormal hand morphology... ORPHA:101000
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Gait ataxia, Spinocerebellar atrophy, Progressive cerebellar ataxia, Spastic dysar... ORPHA:95433
Glioblastoma
Paralysis ORPHA:360
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx... ORPHA:765
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Postural tremor, Parkinsonism, Ri... OMIM:609454
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Gowers sign, Progressive proximal muscle weakness, Obesity, S... ORPHA:98908
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Tetraplegia OMIM:610768
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:252605
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ... ORPHA:99956
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Developmental And Epileptic Encephalopathy 46
Microcephaly, Tremor, Cerebral atrophy, Failure to thrive, Limb hypertonia OMIM:617162
Igg4-Related Pachymeningitis
Somatic sensory dysfunction, Eosinophilia, Elevated circulating C-reactive protein concentration,... ORPHA:449427
Autosomal Dominant Spastic Paraplegia Type 9A
Abnormality of the dorsal column of the spinal cord, Urinary incontinence, Corpus callosum atroph... ORPHA:447753
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Brain atrophy, F... OMIM:620327
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Zika Virus Disease
Maculopapular exanthema, Skin rash, Edema, Acute demyelinating polyneuropathy, Arthritis, Abnorma... ORPHA:448237
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Gait ataxia ORPHA:438134
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Microcephaly, Dysplastic corpus callosum, Hypertonia, Failure to thrive OMIM:604273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Elevated hepatic transaminase, Dystonia, Ataxia, Elevated circulat... OMIM:615356
Chronic Hiccup
Weight loss ORPHA:396
Thymic Neuroendocrine Tumor
Osteopenia, Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Hypercalcemia, Pitui... ORPHA:97289
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Delay... ORPHA:572798
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Flexion contracture, Truncal... OMIM:300243
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... OMIM:603516
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Tremor, Inability to walk, Spasticity, Brain atrophy OMIM:618718
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Scoliosis OMIM:618234
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Skin rash, Ataxia, Edema, Increased circulating ferritin concentration, Tet... OMIM:603553
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Scoliosis, Short neck ORPHA:178148
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Cerebellar vermis hypoplasia, Tremor, Flexion contracture, Dysmetria, Hypoalbuminemia... OMIM:212065
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Encephalitis Lethargica
Tremor, Parkinsonism, Bradycardia ORPHA:83600
Pseudo-Torch Syndrome 2
Bradycardia, Cerebral hemorrhage OMIM:617397
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Ataxia, Postnatal growth retardation, Dysplastic corpus callosum, Primary ... ORPHA:357058
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Scoliosis, Short neck OMIM:611890
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Foot dorsiflexor weakness, Ataxia, Tremor, Thrombocyto... OMIM:214500
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Progressive proximal muscle weakness, Muscle weakness ORPHA:368
Cranio-Osteoarthropathy
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... ORPHA:1525
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity OMIM:616640
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Joint laxity, Broad-based gait, Sandal ga... ORPHA:477817
Developmental And Epileptic Encephalopathy 72
Inability to walk, Delayed CNS myelination, Hyperkinetic movements OMIM:618374
Bruck Syndrome 1
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging OMIM:259450
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia OMIM:618775
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Autoamputation of digits, Decreased nerve... OMIM:201300
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia, Microcephaly ORPHA:2058
Alveolar Echinococcosis
Abnormal pelvis bone morphology, Ataxia, Liver abscess, Eosinophilia, Portal hypertension, Jaundi... ORPHA:284
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Craniosynostosis, Tremor, Splenomegaly, Thyrotoxicosis with diffus... ORPHA:525731
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi... ORPHA:2484
Ataxia-Telangiectasia
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG l... OMIM:208900
Proteus Syndrome
Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
D-Bifunctional Protein Deficiency
Cerebral dysmyelination, Corpus callosum atrophy, Splenomegaly, Cortical dysplasia, Gliosis, Hypo... OMIM:261515
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dystonia OMIM:304700
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Unsteady gait, Agenesis of corpus callosum, M... OMIM:618733
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... OMIM:618527
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... ORPHA:398063
Cerebral Visual Impairment
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner... ORPHA:447788
Erythrokeratodermia Variabilis
Tapered finger, Brachydactyly, Diabetes mellitus, Weight loss ORPHA:317
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Muscle wea... ORPHA:713
Osteogenesis Imperfecta
Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal ... ORPHA:666
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle resp... OMIM:615574
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... ORPHA:1486
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss ORPHA:86893
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Abnormality of the kidney, 3-Methylglutaconic aciduria, Infectious encephalitis, Cer... ORPHA:1194
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Babinski sign, Abnormal pyramidal sign, Fasciculations, S... OMIM:602099
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Dystonia, Ataxia, Rhizomelia, Tremor, Flexion contracture, Opisthotonus, Chor... OMIM:616271
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:48431
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Ophthalmoparesis, Weight ... OMIM:603041
Thymic Carcinoma
Fatigable weakness, Diaphragmatic paralysis, Weight loss ORPHA:99868
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... OMIM:617675
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d... OMIM:615244
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi... OMIM:610217
Continuous Spikes And Waves During Sleep
Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness ORPHA:725
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Spinal rigidity, Scoliosis, Short neck ORPHA:75840
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Peripheral axonal neuropathy, Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthe... OMIM:607459
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Proximal Spinal Muscular Atrophy
Inability to walk, Difficulty walking, Bradycardia, Tongue fasciculations ORPHA:70
Hyperkalemic Periodic Paralysis
Hyponatremia, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kina... ORPHA:682
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Ataxia, Elevated circulating creatine kinase concentration, Clonus, Poor coordination,... OMIM:616878
Combined Oxidative Phosphorylation Deficiency 39
Involuntary movements, Babinski sign, Sinus bradycardia, Ankle clonus, Spasticity OMIM:618397
Trisomy 18
Short stature, Cachexia, Microcephaly, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the corpu... ORPHA:3380
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... OMIM:300009
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Kyphosis, Hypoplasia of the odontoid process, Long coccyx... OMIM:156530
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:618484
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Optic atrophy, Gait atax... OMIM:620089
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Neuroblastoma, Susceptibility To, 1
Ataxia, Spinal cord compression, Weight loss, Myoclonus, Failure to thrive, Ganglioneuroma, Anemia OMIM:256700
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp... ORPHA:199299
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Weight l... OMIM:619377
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Scoliosis OMIM:618124
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... OMIM:616897
Sjogren-Larsson Syndrome
CNS demyelination, Spasticity, Flexion contracture, Spastic paraparesis OMIM:270200
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Tremor, Decreased nerve conduction velocity, Facial diplegia, Fasciculations, Diffi... ORPHA:329478
Tbck-Related Intellectual Disability Syndrome
Progressive muscle weakness ORPHA:488632
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Lymphoproliferative Syndrome, X-Linked, 2
Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ... ORPHA:656
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atrophy, Global brai... OMIM:617186
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Cerebral palsy, Ataxia, Abnormal central motor function, Hypouricemi... ORPHA:760
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Clumsiness, Facial diplegia, Abnormal circulatin... ORPHA:521411
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Bruck Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:2771
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Hypertonia, Hypothyroidi... ORPHA:254892
Lujo Hemorrhagic Fever
Shock, Resting tremor, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Dworschak-Punetha Neurodevelopmental Syndrome
Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of... OMIM:619955
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Myocarditis, Infectious encephalitis ORPHA:83317
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... OMIM:619638
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Ataxia, Reduced beta-hexosaminidase activi... OMIM:268800
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Familial Colorectal Cancer Type X
Glioblastoma multiforme, Hemiplegia/hemiparesis, Abnormal circulating creatine concentration, Pit... ORPHA:440437
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Incoordination, Ataxia, Arthrogryposis-like hand anomaly, Spastic paraparesis, Clinod... ORPHA:369891
Typhoid
Skin rash, Ataxia, Tremor, Hypertonia, Infectious encephalitis ORPHA:99745
Pyruvate Carboxylase Deficiency
Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Basal ganglia gliosis, Hypoglutaminemia, Ata... ORPHA:3008
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Tongue fasciculations, Fasciculations OMIM:613435
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hypertonia, Hemophagocytosis, Neutropenia ORPHA:79477
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Clubbing of toes, Weight loss ORPHA:2198
Congenital Myopathy 15
Waddling gait, Vocal cord paralysis OMIM:620161
L-2-Hydroxyglutaric Aciduria
Infectious encephalitis, Spastic tetraparesis, Abnormality of extrapyramidal motor function ORPHA:79314
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... OMIM:234200
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Tetraplegia, Hyperton... OMIM:267700
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Edema, Absence of renal corticomedu... OMIM:120330
Meningococcal Meningitis
Papilledema, Renal insufficiency, Skin rash, Elevated circulating C-reactive protein concentratio... ORPHA:33475
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis ORPHA:816
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:2617
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Vocal cord paralysis, Lower... ORPHA:397744
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Jaund... ORPHA:275761
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Edema, Pustule, Orchit... ORPHA:761
Alexander Disease
Osteopenia, Diabetes mellitus, Ataxia, Clonus, Facial palsy, Tremor, Aqueductal stenosis, Chorea,... ORPHA:58
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lower limb spasticity, Absent septum pellucidum, Large for gestational age, Microcephaly, Delayed... OMIM:300868
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Bacterial Toxic-Shock Syndrome
Myositis, Renal insufficiency, Sinusitis, Glomerulonephritis, Fasciitis, Pneumonia, Osteomyelitis... ORPHA:36234
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... ORPHA:309246
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Spastic ... ORPHA:2072
Nipah Virus Disease
Tremor, Infectious encephalitis, Myoclonus ORPHA:99825
Niemann-Pick Disease, Type C1
Ataxia, Bone-marrow foam cells, Splenomegaly, Gait ataxia, Sea-blue histiocytosis, Dystonia, Cata... OMIM:257220
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Large for gestational age, Tremor, Abnormal circulating fatty-acid... ORPHA:263455
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Increased circulating guanosine c... OMIM:613179
Stüve-Wiedemann Syndrome
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypo... ORPHA:3206
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Angioedema, Hepatitis, Thyroiditis, Tubuloi... ORPHA:139402
Avian Influenza
Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:454836
Tick-Borne Encephalitis
Stiff neck, Elevated circulating C-reactive protein concentration, Tremor, Leukopenia, Increased ... ORPHA:297
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Osteoporosis, ... ORPHA:94068
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Lynch Syndrome
Glioblastoma multiforme, Hemiplegia/hemiparesis, Pituitary adenoma, Flexion contracture, Abnormal... ORPHA:144
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Delayed CNS myelination, Recurrent skin infections, Recurrent urinary tract in... OMIM:620210
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... ORPHA:37042
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Legionnaires Disease
Renal insufficiency, Pericarditis, Proteinuria, Ataxia, Myocarditis, Hepatitis, Endocarditis, Hem... ORPHA:549
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Short stature, Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum,... OMIM:619179
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytopenia OMIM:619644
Hydroxykynureninuria
Tachycardia, Hypertonia, Hypotension ORPHA:79155
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Hyperlipidemia, Chronic ... ORPHA:567546
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Scoliosis OMIM:130060
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex, Coxa valga, Short tubular bones of ... ORPHA:85184
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, Short stature, Cachexia, Microcephaly, Acu... ORPHA:647
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... OMIM:277900
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Thrombocytopenia, Hepatitis, Weight loss, A... ORPHA:47
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Cerebral cortical atrophy, Weight loss ORPHA:1164
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven... OMIM:616900
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasciculations, Spasticity OMIM:105400
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Hyperthyroidism, Tremor, Generalized joint laxity... ORPHA:502423
Superficial Siderosis
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... ORPHA:247245
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Hyperlysinemia
Abnormal circulating enzyme concentration or activity, Neck hypertonia, Failure to thrive, Poor m... ORPHA:2203
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... ORPHA:276621
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pachygyria, Gliosis OMIM:231680
Rothmund-Thomson Syndrome Type 1
Calcinosis, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Small for gestatio... ORPHA:221008
Hartnup Disease
Abnormal urinary color, Skin rash, Ataxia, Infectious encephalitis, Neutral hyperaminoaciduria ORPHA:2116
12Q14 Microdeletion Syndrome
Diabetes mellitus, Tremor, Abnormality of the spleen, Osteopoikilosis, Chiari malformation, Clino... ORPHA:94063
Even-Plus Syndrome
Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum OMIM:616854
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency due to muscle weakness, Gowers sign, Progressive proximal muscle weakne... ORPHA:365
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Kyphosis, Short neck, Hyperlordosis ORPHA:2522
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Gait dis... ORPHA:220497
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Scoliosis ORPHA:1883
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Apl... ORPHA:1454
Acute Disseminated Encephalomyelitis
Hypointensity of cerebral white matter on MRI, Ataxia, Involuntary movements, Abnormal spinal cor... ORPHA:83597
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Neurodegenerati... ORPHA:79244
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Hydrocephalus... ORPHA:475
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Urinary incontinence, Dysesthesia, Myelopathy, Cranial nerve compres... ORPHA:268882
Porphyria, Acute Intermittent
Dysuria, Urinary incontinence, Paralysis, Respiratory paralysis, Urinary retention, Paresthesia, ... OMIM:176000
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Coxa vara, Hypertonia, Wrist flex... ORPHA:800
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... ORPHA:18
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Scoliosis OMIM:615834
Felty Syndrome
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Anemia, Arthritis... ORPHA:47612
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Cerebral calcification, Facial-lingual fasciculations, Microcephaly... OMIM:617281
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Ataxia, Diabetes insipidus, Megaloblastic anemia, Tremor... OMIM:222300
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu... ORPHA:221016
Peripheral Primitive Neuroectodermal Tumor
Torticollis, Somatic sensory dysfunction, Elevated carcinoma antigen 125 level, Elevated circulat... ORPHA:370348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:606612
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Ataxia, Hyperammonemia, Weight loss ORPHA:79242
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Lower limb spasticity, Hemolytic anemia, Pancytopenia, Spastic tetraparesis, ... OMIM:615846
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Babinski sign, Impaired proprioception, Sensory ataxia, Difficulty ... OMIM:500013
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Fasciculations, Elevated circulating creatine kinase concentration OMIM:619733
Gabriele-De Vries Syndrome
Small for gestational age, Tremor, Delayed myelination, Abnormal cerebral white matter morphology... ORPHA:506358
Cystic Echinococcosis
Elevated hepatic transaminase, Abscess, Eosinophilia, Jaundice, Bone cyst, Weight loss, Elevated ... ORPHA:400
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Impaired neutrophil chemotaxis, Craniosynostosis, Bab... ORPHA:3132
Hirschsprung Disease
Aganglionic megacolon, Failure to thrive in infancy, Weight loss, Neoplasm of the thyroid gland, ... ORPHA:388
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis OMIM:619797
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast... ORPHA:488627
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Hypoesthesia, Schwannoma, Pe... ORPHA:93921
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Chromosome 18Q Deletion Syndrome
Joint laxity, Delayed CNS myelination, Toe syndactyly, Failure to thrive in infancy, Rocker botto... OMIM:601808
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Fatal Familial Insomnia
Abnormal autonomic nervous system physiology, Ataxia, Myoclonus, Weight loss OMIM:600072
Graves Disease, Susceptibility To, 1
Muscle weakness, Weight loss OMIM:275000
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Facial palsy, Aplastic clavicle, Abnormal meta... ORPHA:2658
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Impaired T cell function, Tremor, Splenomegaly, Low alkaline phosphatase, Decreased serum... OMIM:201100
Dpagt1-Cdg
Elevated hepatic transaminase, Arachnodactyly, Ataxia, Akinesia, Tremor, Inability to walk, Abnor... ORPHA:86309
Brody Disease
Somatic sensory dysfunction, Flexion contracture, Fasciculations OMIM:601003
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Ataxia, Spastic hemiparesis, Leukocytosis, Jaundice, Hyperammonemi... ORPHA:20
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Smith-Mccort Dysplasia 1
Short neck, Kyphosis, Hypoplasia of the odontoid process, Atlantoaxial instability, Platyspondyly... OMIM:607326
Bannayan-Riley-Ruvalcaba Syndrome
Abdominal wall muscle weakness, Muscle weakness, Cachexia ORPHA:109
Insulinoma
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... ORPHA:97279
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Scoliosis ORPHA:352490
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Abnormal trabecular bone morphology, Femur fracture, Splenomegal... OMIM:612301
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Tapered finger, Trem... OMIM:300998
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Maculopapular exanthema, Skin rash, Increased circulating ferritin concentr... ORPHA:540
Gitelman Syndrome
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypocalciuria, Increased circulat... OMIM:263800
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Hydrocephalus... ORPHA:220493
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Ataxia, Facial palsy, Proximal muscle weakness, Tremor, External ophthalm... OMIM:164310
Follicular Lymphoma
Splenomegaly, Weight loss ORPHA:545
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia, Microcephaly ORPHA:808
Inhalational Botulism
Paralysis ORPHA:254504
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Short humerus, Elevated hepatic transaminase, Short femur, Abnormal circu... ORPHA:17
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Kyphosis, Hypoplasi... ORPHA:93314
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Cranial nerve compression, Pitu... ORPHA:652
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, T2 hypointense basal ganglia, T... ORPHA:25
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Neonatal death, Dysplastic corpus callosum, Peripheral axonal neuropathy, Spasticity OMIM:618810
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Paresthesia ORPHA:3165
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Fasciculations OMIM:616437
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, 2-5 finger syndactyly, Optic disc pallor, Multiple joint contractures, Campto... ORPHA:468631
Argininemia
Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti... OMIM:207800
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Myopathy, Myofibrillar, 2
Fasciculations, Elevated circulating creatine kinase concentration OMIM:608810
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Rothmund-Thomson Syndrome
Calcinosis, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Small for ge... ORPHA:2909
African Trypanosomiasis
Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Conjunctivitis, Iritis, P... ORPHA:3385
Mercury Poisoning
Tremor, Hypertension, Tachycardia, Hypotension ORPHA:330021
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Talipes cavus equin... OMIM:300966
Becker Nevus Syndrome
Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Broad-based gait, Ataxia, Tremor, Delayed myelination, Obesity,... ORPHA:98794
Serotonin Syndrome
Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Hypertonia, Myoclonus, Hypotension ORPHA:43116
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss ORPHA:65682
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Giant Cell Arteritis
Ataxia, Joint stiffness, Optic atrophy, Weight loss, Arthritis, Paresthesia, Hepatic failure, Dia... ORPHA:397
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis OMIM:607155
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Tremor, Jaundice, Flexion contracture, Hypertonia, Clinodactyly of... OMIM:608093
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... OMIM:617952
Amyotrophic Lateral Sclerosis 18
Spasticity, Fasciculations OMIM:614808
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bon... ORPHA:1988
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Kyphosis, Hypoplasia of the odontoid process, ... OMIM:253000
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:536516
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin... ORPHA:2298
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leukodystrophy, Limb dystonia, ... ORPHA:646
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Vocal cord paralysis, Clumsiness, Ankle clonus, Gait imbalance, Tongue fasciculations, Tr... OMIM:211530
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Crisponi Syndrome
Kyphosis, Scoliosis ORPHA:1545
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Delayed CNS myelination, Ataxia, Cerebral atrophy, Gliosis, Neonatal death, Spasticity, Failure t... OMIM:124000
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Aicardi-Goutières Syndrome
Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Leukodystrophy, Hypothy... ORPHA:51
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Lower limb spasticity, Absent brainstem auditory responses, Ataxia... ORPHA:90321
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Clumsiness ORPHA:90674
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Muscle weakness, Neutropenia, Thromb... ORPHA:520
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:3191
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, Re... ORPHA:478
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Mitochondrial Complex I Deficiency, Nuclear Type 2
Ankle clonus, Gliosis, Dystonia OMIM:618222
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Tremor, Cranial ner... ORPHA:29072
Tsh-Secreting Pituitary Adenoma
Osteopenia, Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogona... ORPHA:91347
Riddle Syndrome
Ataxia, Elevated circulating alpha-fetoprotein concentration, Weight loss, Clumsiness, Arthritis,... ORPHA:420741
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... ORPHA:2916
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Scoliosis ORPHA:137834
Congenital Enterovirus Infection
Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hepatitis, Hydrops f... ORPHA:292
Pfapa Syndrome
Splenomegaly, Weight loss ORPHA:42642
Hyperparathyroidism, Transient Neonatal
Osteopenia, Communicating hydrocephalus, Hyperparathyroidism, Short femur, Metaphyseal spurs, Rec... OMIM:618188
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Weight loss, Anemia ORPHA:54251
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali... OMIM:613848
Alpha-Mannosidosis
Kyphosis, Scoliosis, Short neck ORPHA:61
Behçet Disease
Myositis, Abnormal pyramidal sign, Infectious encephalitis, Glomerulopathy, Acne, Ataxia, Retrobu... ORPHA:117
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Rheumatoid Arthritis
Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,... OMIM:180300
Sialuria
Elevated hepatic transaminase, 2-3 toe syndactyly, Hepatosplenomegaly, Hyperkinetic movements, Lo... ORPHA:3166
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations OMIM:619141
Beta-Ketothiolase Deficiency
Ataxia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Extrapyramidal dyskinesia, Thro... ORPHA:134
Takayasu Arteritis
Muscle weakness, Anemia, Weight loss ORPHA:3287
Neurocutaneous Melanocytosis
Hemiparesis, Syringomyelia, Infectious encephalitis, Renal hypoplasia/aplasia ORPHA:2481
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Listeriosis
Pericarditis, Osteomyelitis, Ataxia, Pneumonia, Somatic sensory dysfunction, Pustule, Myocarditis... ORPHA:533
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis OMIM:615122
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Weight loss ORPHA:142
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis ORPHA:26791
Hurler Syndrome
Cerebral palsy, Camptodactyly of finger, Splenomegaly, Hydrocephalus, Limitation of joint mobilit... ORPHA:93473
Hereditary Sensory And Autonomic Neuropathy Type 5
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P... ORPHA:64752
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Scoliosis OMIM:609541
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... ORPHA:171876
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Achondroplasia
Brachydactyly, Radial bowing, Short femur, Rhizomelia, Limited hip extension, Bowing of the legs,... OMIM:100800
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Ureteral duplication, Renal dysplasia, Ureteral hypoplasia, Polyhydramnios, B... OMIM:614080
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Keratitis, Bronchiectasis, Hepati... ORPHA:1163
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Somatic sensory dysfunction, Dysuria, Urinary incontinence, Trem... ORPHA:79276
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Small for gestational age, Ataxia, Failure to thrive in infancy, Microcephaly, Short stature, CNS... ORPHA:268261
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:2311
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Ataxia, Progressive flexion contractures, Equinus calcaneus, Chorea, Delayed myelin... ORPHA:522077
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Polyarteritis Nodosa
Polyneuritis, Sensory axonal neuropathy, Weight loss ORPHA:767
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Short humerus, Short femur, Small for gestational age, Sandal ga... OMIM:607143
Rheumatic Fever
Chorea, Arthritis, Gait disturbance, Hemiballismus, Fasciculations ORPHA:3099
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Bohring-Opitz Syndrome
Syndactyly, Overlapping toe, Delayed peripheral myelination, Tapered finger, Mesomelic/rhizomelic... OMIM:605039
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Kyphosis, Hypoplasia of the odontoid pr... OMIM:183900
Split Cord Malformation
Paraparesis, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomeningocele, Hydrocephalus, Me... ORPHA:573278
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Recurrent urinary tract infections, Abnormality of the kidney, Spastic parap... ORPHA:847
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Developmental Malformations-Deafness-Dystonia Syndrome
Kyphosis, Scoliosis ORPHA:79107
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Joint laxity, Toe syndactyly, Decreased response to growth hormone stimulation test, Bilateral ca... OMIM:619234
Atelosteogenesis Type Ii
Micromelia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of... ORPHA:56304
Polymyositis
Elevated circulating creatine kinase concentration, Weight loss, Arthritis, Gait disturbance, Ele... ORPHA:732
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Knee osteoarthritis... ORPHA:1304
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Optic atrophy, Spastic tetraplegia, Neurodegeneration, Difficulty walking, Spas... OMIM:618476
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Dysesthesia, Hypovolemia, Capillary leak, Subconjunctival hemor... ORPHA:99826
Arthrogryposis, Distal, Type 4
Kyphosis, Lumbar scoliosis, Scoliosis OMIM:609128
3-Methylglutaconic Aciduria, Type Viii
Tremor, Hypertonia, Bradycardia, Clonus OMIM:617248
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Weight loss ORPHA:85447
Lyme Disease
Uveitis, Arthritis, Joint swelling, Paresthesia, Infectious encephalitis ORPHA:91546
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Niemann-Pick Disease, Type C2
Ataxia, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Dystonia, Cataplexy, Spasti... OMIM:607625
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat... ORPHA:100085
Benign Samaritan Congenital Myopathy
Fasciculations ORPHA:324581
Oculoskeletodental Syndrome
Dysplastic corpus callosum, Focal white matter lesions, Short stature ORPHA:557003
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Ataxia, Tremor, Central Y-shaped... ORPHA:2754
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Small for gestational age, Tremor, Jaundice, Elevated circulating ... ORPHA:69665
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Chiari type I malforma... ORPHA:3455
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Hydrocepha... ORPHA:667
Foix-Alajouanine Syndrome
Somatic sensory dysfunction, Dysesthesia, Myelopathy, Progressive spastic paraparesis, Unsteady g... ORPHA:79093
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Kyphoscoliosis, Scoliosis OMIM:300280
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Increa... ORPHA:355
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Weight loss, Decreased circulating antibody level, Reduced propo... ORPHA:90362
Kapur-Toriello Syndrome
Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria ORPHA:2328
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... ORPHA:90003
Arthrogryposis, Distal, Type 5
Kyphosis, Scoliosis OMIM:108145
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Delayed CNS myelination, Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunctio... OMIM:616539
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Multiple Myeloma
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... ORPHA:29073
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Renal hypophosphatemia, Elevated circula... ORPHA:1652
Bohring-Opitz Syndrome
Inability to walk, Lower limb hypertonia, Bradycardia ORPHA:97297
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys... ORPHA:2828
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... OMIM:147891
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Dysplastic corpus callosum, Periventricular cysts, Thick corpus callos... ORPHA:544488
Thanatophoric Dysplasia
Kyphosis, Platyspondyly, Abnormal sacroiliac joint morphology ORPHA:2655
Scheie Syndrome
Cerebral palsy, Joint stiffness, Splenomegaly, Limitation of joint mobility, Spastic paraparesis,... ORPHA:93474
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Dehydration, Abnormality of the urinary system p... ORPHA:2552
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesit... OMIM:614947
Typical Nemaline Myopathy
Spinal rigidity, Short neck, Kyphosis, Hyperlordosis, Scoliosis ORPHA:171436
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,... ORPHA:37553
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology,... ORPHA:171
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Scoliosis ORPHA:98863
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Scorpion Envenomation
Bundle branch block, Tachycardia, Hemifacial spasm, Ataxia, Cardiac conduction abnormality, Tremo... ORPHA:466677
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Pleural Mesothelioma
Weight loss ORPHA:50251
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Short stature, Anemia ORPHA:79076
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Ataxia, Pneumonia, Facial palsy, Pustule, Abnormal spinal cord mo... ORPHA:68
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Gallbladder Neuroendocrine Tumor
Weight loss, Intermittent jaundice, Elevated gamma-glutamyltransferase level, Elevated alkaline p... ORPHA:100086
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98855
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Cerebral edema, Paralysis ORPHA:83601
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:618291
Mucolipidosis Type Ii
Hip contracture, Craniosynostosis, Limited wrist movement, Splenomegaly, Inability to walk, Limit... ORPHA:576
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Helsmoortel-Van Der Aa Syndrome
Short stature, Facial palsy, Obesity, Truncal obesity, Lateral ventricle dilatation, Gliosis, Int... OMIM:615873
Budd-Chiari Syndrome
Elevated hepatic transaminase, Acute hepatic failure, Portal hypertension, Jaundice, Weight loss ORPHA:131
Spondyloocular Syndrome
Long toe, Osteopenia, Femur fracture, Arachnodactyly, Overlapping toe, Long fingers, Unsteady gai... OMIM:605822
Wieacker-Wolff Syndrome
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:314580
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Decreased c... ORPHA:99867
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Mucopolysaccharidosis, Type Ii
Papilledema, Heparan sulfate excretion in urine, Recurrent pneumonia, Dermatan sulfate excretion ... OMIM:309900
Secondary Short Bowel Syndrome
Aganglionic megacolon, Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Cent... ORPHA:95427
Biotinidase Deficiency
Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Hyperammonemia, Spastic paraparesis, Decreas... ORPHA:79241
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Joint stiffness, F... ORPHA:85408
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... OMIM:277400
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
American Trypanosomiasis
Skin rash, Edema, Periorbital edema, Myocarditis, Infectious encephalitis ORPHA:3386
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Flexion contracture, Hypertonia, Hyperkinetic movements, Talipes equinovarus,... OMIM:619124
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Hemiplegia/hemiparesis, Weight loss, Arthritis, Gait disturbance ORPHA:183
Mucopolysaccharidosis Type 4
Short neck, Hyperlordosis, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... ORPHA:93360
Short Syndrome
Diabetes mellitus, Weight loss, Joint hyperflexibility, Short palm, Brachydactyly ORPHA:3163
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Dystonia, Tremor, Precocious puberty, Delayed myelination, Choreoathetosis, M... ORPHA:1934
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Pseudoachondroplasia
Lumbar hyperlordosis, Kyphosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, Bea... OMIM:177170
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Triphalangeal thumb, Clinoda... ORPHA:84
Urban-Rogers-Meyer Syndrome
Kyphosis, Short neck ORPHA:3409
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Frank-Ter Haar Syndrome
Short palm, Osteopenia, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Fl... OMIM:249420
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis... ORPHA:158048
Inflammatory Bowel Disease (Crohn Disease) 1
Growth delay, Weight loss OMIM:266600
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Scoliosis OMIM:617143
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck OMIM:608776
Igg4-Related Aortitis
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... ORPHA:449400
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralysis, Pericardial effusion, ... ORPHA:358
Simple Cryoglobulinemia
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Monoclonal... ORPHA:91139
New-Onset Refractory Status Epilepticus
Infectious encephalitis, Global brain atrophy ORPHA:363558
Atelosteogenesis, Type I
Encephalocele, Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Short ... OMIM:108720
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Isolated Permanent Neonatal Diabetes Mellitus
Peripheral axonal neuropathy, Ataxia, Neonatal insulin-dependent diabetes mellitus, Weight loss, ... ORPHA:99885
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... ORPHA:2902
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc... OMIM:277170
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Broad-based gait, Recurrent fractures, Long fingers, Ost... OMIM:309583
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... ORPHA:2396
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ... OMIM:617799
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology ORPHA:324737
Congenital Tufting Enteropathy
Optic disc coloboma, Weight loss, Arthritis, Steatorrhea, Failure to thrive ORPHA:92050
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Incoordination, Decreased number of large peripheral myelinated nerve fiber... OMIM:223900
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Involuntary movements, Unsteady gait, Genu valgum, Joint hypermobility OMIM:617798
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis ORPHA:98853
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Zygomycosis
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... ORPHA:73263
Schaaf-Yang Syndrome
Kyphosis, Scoliosis OMIM:615547
Tyrosinemia, Type I
Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Periodic paralysis, Ne... OMIM:276700
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Finger syndactyly, Ataxia, Tarsal synostosis, Tremor, Preaxial han... ORPHA:2750
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Atelosteogenesis Type I
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... ORPHA:1190
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Short humerus, Exaggerated startle response, Short femur, Delayed CNS myelina... OMIM:618367
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Gliosis, Hypoplasia of the corpus callosum OMIM:617403
Wiedemann-Rautenstrauch Syndrome
Sudanophilic leukodystrophy, Flexion contracture, Hypertonia, Hypoplasia of the thymus, Dandy-Wal... OMIM:264090
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas... ORPHA:2769
Yellow Fever
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... ORPHA:99829
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Solitary Fibrous Tumor
Hypophosphatemic rickets, Reduced C-peptide level, Hypoinsulinemia, Weight loss ORPHA:2126
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebral bodies OMIM:230500
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardial effusion, Myocarditi... ORPHA:781
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Hypoplasia of the odontoid process, Platyspondyl... OMIM:253010
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Elevated circula... ORPHA:85443
Ullrich Congenital Muscular Dystrophy 1
Kyphosis, Scoliosis, Spinal rigidity OMIM:254090
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Orthostatic hypotension, H... ORPHA:95409
Cerebrofacioarticular Syndrome
Ataxia, Short stature, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosu... ORPHA:314679
Chikungunya
Maculopapular exanthema, Skin rash, Peripheral nerve compression, Erythema nodosum, Facial edema,... ORPHA:324625
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis OMIM:615381
Desbuquois Dysplasia 1
Short neck, Hyperlordosis, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Micromelia, Delayed epiphyseal ossification, Flexion contracture, P... OMIM:210710
Wieacker-Wolff Syndrome, Female-Restricted
Kyphosis, Scoliosis, Short neck OMIM:301041
Vipoma
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... ORPHA:97282
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... ORPHA:512
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Pneumocystosis
Abnormal neutrophil count, Increased circulating lactate dehydrogenase concentration, Increased c... ORPHA:723
Diets-Jongmans Syndrome
Gliosis, Thick corpus callosum, Short stature OMIM:618846
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ... OMIM:251100
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equino... OMIM:620306
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Lysinuric Protein Intolerance
Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Muscle weakness, Failure to ... OMIM:222700
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Small for gestational age, Elevated hep... OMIM:613658
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Holoprosencephaly, Anterior encephalocele OMIM:601357
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Autoamputation of digits, Osteomyelitis, Abnormal autonomic nervous system ph... OMIM:256800
3M Syndrome
Short neck, Hyperlordosis, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Reynolds Syndrome
Skin rash, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Ascites, Infectious encephalitis ORPHA:779
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Marfan Syndrome
Slender build, Cachexia, Dural ectasia ORPHA:558
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Increased circulating ACTH level, Weight loss, Iron deficiency ane... ORPHA:100075
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... OMIM:619103
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary growth hormone cell adenoma, Hyp... ORPHA:913
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Kaposi Sarcoma
Abnormality of the spleen, Weight loss ORPHA:33276
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Epidermal Nevus Syndrome
Osteopenia, Progressive spastic paraparesis, Babinski sign, Hypertonia ORPHA:35125
Liposarcoma
Weight loss ORPHA:69078
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem... OMIM:614162
Eales Disease
Myelopathy, Optic disc pallor, Spastic paraparesis ORPHA:40923
Cap Polyposis
Weight loss ORPHA:160148
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Clubbing, Weight loss ORPHA:79127
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Bullous Pemphigoid
Weight loss ORPHA:703
Caroli Disease
Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, In... ORPHA:53035
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Obesity, Weight loss, Broad thumb ORPHA:251071
Lateral Meningocele Syndrome
Short neck, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
15Q24 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:94065
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Elevated circulating calcitonin conce... ORPHA:1332
Incontinentia Pigmenti
Skin rash, Keratitis, Hemiplegia/hemiparesis, Uveitis, Gait disturbance, Spasticity, Spina bifida... ORPHA:464
Mucopolysaccharidosis Type 6
Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
Cysticercosis
Somatic sensory dysfunction, Ataxia, Iridocyclitis, Spinal arachnoid cyst, Spinal cord lesion, In... ORPHA:1560
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis OMIM:618443
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi... OMIM:307200
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Metaphyseal widening... OMIM:219800
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Elevated c... ORPHA:67
Norrie Disease
Clonus, Cachexia, Microcephaly, Optic atrophy, Hypertonia, Delayed puberty, Failure to thrive, Ce... ORPHA:649
Harrod Syndrome
Kyphosis, Scoliosis ORPHA:2115
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Optic neuropathy, Broad ischia, Optic atrophy, Diaphysea... OMIM:619727
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Hyponatremia, Hypogonadotropic hypogo... ORPHA:90794
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Kyphosis, Hypoplasia of the odontoid pr... OMIM:253220
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Kyphosis, Hypoplasia of the odontoid process, Platyspondyly, Th... OMIM:223800
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Fabry Disease
Paresthesia, Abnormal autonomic nervous system physiology, Fasciculations, Delayed puberty, Anemia OMIM:301500
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Somatostatinoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... ORPHA:97283
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis OMIM:617190
Acro-Renal-Mandibular Syndrome
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Steatorrhea ORPHA:309031
Trisomy 13
Kyphosis, Scoliosis ORPHA:3378
Amyotrophy, Monomelic
Fasciculations OMIM:602440
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Chronic mucocutaneous candidias... OMIM:209920
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness ORPHA:43393
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
19P13.12 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:254346
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra... ORPHA:747
X-Linked Intellectual Disability Due To Gria3 Mutations
Kyphosis, Scoliosis ORPHA:364028
Yao Syndrome
Arthritis, Weight loss OMIM:617321
3C Syndrome
Kyphosis, Hemivertebrae, Scoliosis, Short neck ORPHA:7
Stickler Syndrome
Hemiplegia/hemiparesis, Short stature, Slender build, Cachexia ORPHA:828
Alkaptonuria
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration OMIM:203500
Lymphoid Interstitial Pneumonia
Failure to thrive, Clubbing, Rheumatoid arthritis, Weight loss ORPHA:79128
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Ataxia, Elevated circulating C-reactive protein concentration, Thr... ORPHA:50918
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Intrauterine growt... OMIM:151050
Hurler Syndrome
Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine, Abnormal CNS myelination... OMIM:607014
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Female hypogonadism, Decreased serum leptin, Coxa valga, Joint ... ORPHA:740
Marden-Walker Syndrome
Kyphosis, Scoliosis, Short neck OMIM:248700
Ppoma
Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan... ORPHA:97278
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Klatskin Tumor
Jaundice, Weight loss ORPHA:99978
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Hurler-Scheie Syndrome
Kyphosis, Scoliosis OMIM:607015
Polycythemia Vera
Myelofibrosis, Portal hypertension, Splenomegaly, Acute leukemia, Weight loss ORPHA:729
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scoliosis OMIM:617061
Glucagonoma
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Acanthocytos... ORPHA:97280
Grfoma
Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma... ORPHA:97261
Castleman Disease
Myelofibrosis, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jaundice,... ORPHA:160
Emanuel Syndrome
Kyphosis, Sacral dimple, Scoliosis OMIM:609029
Cockayne Syndrome Type 2
Kyphosis, Scoliosis ORPHA:90322
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Joint stiffness, Short metatarsal, Elbow flexion contracture,... OMIM:608328
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Genitopalatocardiac Syndrome
Kyphosis, Scoliosis ORPHA:2075
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Spasticity, Hypoplasia of the corpus callosum, Microcephaly OMIM:618569
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies OMIM:219090
Graft Versus Host Disease
Failure to thrive, Hemophagocytosis, Hepatosplenomegaly ORPHA:39812
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Sinus bradycardia OMIM:619482
Trisomy 20P
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Platy... ORPHA:261318
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Weill-Marchesani Syndrome 1
Joint stiffness, Broad metatarsal, Broad phalanges of the hand, Broad metacarpals, Thin bony cort... OMIM:277600
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
Systemic Capillary Leak Syndrome
Leukocytosis, Weight loss ORPHA:188
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Sinusitis, Glioma, Recurrent pneumonia, Bronchiectasis, Neuro... OMIM:251260
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Zttk Syndrome
Short stature, Dysplastic corpus callosum, Optic atrophy, Growth delay, Abnormal cerebral white m... OMIM:617140
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Kyphosis, Hypoplasia of the ... ORPHA:508533
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Intrauterine growth retardation, Failure to thrive, Delayed peripheral myelination, Microcephaly ORPHA:364577
Koolen-De Vries Syndrome
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis ORPHA:96169
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin b... OMIM:612731
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Optic neuropathy, Splenomegaly, Bone cyst, Clubbi... OMIM:181000
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies OMIM:130720
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Friedreich Ataxia 2
Incoordination, Abnormal medulla oblongata morphology, Ataxia, Babinski sign, Abnormality of peri... OMIM:601992
Nephroblastoma
Weight loss ORPHA:654
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... OMIM:259770
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss ORPHA:764
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Scoliosis OMIM:619951
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Parathyroid Carcinoma
Hypercalcemia, Primary hyperparathyroidism, Osteoporosis, Abnormal parathyroid morphology, Weight... ORPHA:143
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:2479
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Nodular Non-Suppurative Panniculitis
Splenomegaly, Weight loss ORPHA:33577
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Scoliosis OMIM:619557
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Functional abnormality of the bladder, Bronchiectas... ORPHA:391487
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... OMIM:300755
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
Cowden Syndrome 5
Kyphosis, Scoliosis OMIM:615108
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Microphthalmia, Syndromic 2
Broad hallux, Sandal gap, Hypothyroidism, 2-3 toe cutaneous syndactyly, Flexion contracture, 2-3 ... OMIM:300166
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis OMIM:616449
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Thick corpus callosum, Delayed pubert... OMIM:300967
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Distal renal tubular acidosis, Optic nerve compression OMIM:259730
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... OMIM:301074
Micro Syndrome
Kyphosis, Scoliosis ORPHA:2510
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Kyphosis, Scoliosis OMIM:618493
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Cowden Syndrome 6
Kyphosis, Scoliosis OMIM:615109
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Acrodermatitis Enteropathica
Failure to thrive, Short stature, Cerebral cortical atrophy, Weight loss ORPHA:37
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Proteus Syndrome
Splenomegaly, Thymus hyperplasia, Cachexia ORPHA:744
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Juvenile Dermatomyositis
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... ORPHA:93672
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Speech apraxia, Ataxia, Dysplastic corpus callosum, Pseudobulbar paralysis, Hypoplasia of the cor... ORPHA:466791
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Weight loss, Iron deficiency anemia, Small intestine carcinoid, In... ORPHA:100078
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis OMIM:610443
Multiple Pterygium-Malignant Hyperthermia Syndrome
Kyphosis, Scoliosis ORPHA:2215
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot... ORPHA:48435
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Distal Triplication 15Q
Kyphosis, Scoliosis ORPHA:314588
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Hemivertebrae, Scoliosis OMIM:301040
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni... ORPHA:36426
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Weight loss, Increased susceptibili... ORPHA:3337
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc... ORPHA:31204
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Scoliosis OMIM:617602
Alstrom Syndrome
Kyphosis, Scoliosis OMIM:203800
Noonan Syndrome 14
Kyphosis, Short neck OMIM:619745
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Hepatosplenomegaly, Weight loss, Peri... ORPHA:1333
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Failure to thrive in infancy, Optic nerve hypoplasia, Proportionate short stature, Dysplastic cor... ORPHA:500150
Pulmonary Alveolar Microlithiasis
Abnormal circulating calcium concentration, Weight loss, Clubbing of fingers, Increased circulati... ORPHA:60025
Granulomatosis With Polyangiitis
Elevated circulating C-reactive protein concentration, Weight loss, Granulomatosis, Hemiplegia, A... ORPHA:900
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Weight loss, Anemia, Neutropenia, Thrombocy... ORPHA:537
Sarcoidosis
Hemolytic anemia, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Eosinophilia, Facial palsy,... ORPHA:797
Malignant Atrophic Papulosis
Muscle flaccidity, Weight loss ORPHA:679
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Scoliosis ORPHA:500055
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia, Cachexia ORPHA:75565
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:476126
2P15P16.1 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261349
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Kyphosis, Hemivertebrae, Scoliosis, Short neck OMIM:618223
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture ORPHA:77259
Cowden Syndrome 1
Kyphosis, Scoliosis OMIM:158350
H Syndrome
Hepatosplenomegaly, Histiocytosis, Microcytic anemia ORPHA:168569
Pancreatoblastoma
Jaundice, Weight loss ORPHA:677
8Q24.3 Microdeletion Syndrome
Long toe, Joint laxity, Ectopic posterior pituitary, Congenital hip dislocation, Small for gestat... ORPHA:508488
Multiple Pterygium Syndrome, Escobar Variant
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, Anterior clef... OMIM:265000
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
2Q31.1 Microdeletion Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck ORPHA:251014
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly ORPHA:1855
Cohen Syndrome
Kyphosis, Scoliosis ORPHA:193
Marshall-Smith Syndrome
Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Hypoplasia of the odontoid process, Thoracic kyphos... OMIM:602535
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired pain sensation, Hyperlipidemia, Enuresis, Infectious encephalitis, Ganglioneuroma ORPHA:293987
Catel-Manzke Syndrome
Joint laxity, Short humerus, Short metacarpal, Short femur, Short toe, Genu valgum, Hyperphalangy... OMIM:616145
Cdags Syndrome
Kyphosis OMIM:603116
Tropical Pancreatitis
Jaundice, Weight loss ORPHA:103918
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Sacral dimple, Scoliosis, Short neck OMIM:616894
White-Kernohan Syndrome
Dysplastic corpus callosum, Obesity OMIM:619426
Witteveen-Kolk Syndrome
Delayed CNS myelination, Small for gestational age, Poor motor coordination, Short stature, Micro... OMIM:613406
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Polym... OMIM:618820
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis OMIM:616914
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l... ORPHA:449395
Weaver Syndrome
Kyphosis, Scoliosis OMIM:277590
Rat-Bite Fever
Oligoarthritis, Weight loss, Arthritis, Septic arthritis, Anemia ORPHA:31205
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Scoliosis OMIM:618050
Renal Nutcracker Syndrome
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Anemia, Weight loss ORPHA:71273
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis ORPHA:464738
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... ORPHA:3042
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona... OMIM:143095
Mgat2-Cdg
Kyphosis, Scoliosis ORPHA:79329
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Scoliosis ORPHA:398069
Monosomy 9Q22.3
Kyphosis, Abnormality of the vertebral column, Short neck ORPHA:77301
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Weight loss, Incr... ORPHA:79078
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... ORPHA:227990
Pontocerebellar Hypoplasia Type 7
Involuntary movements, Olivopontocerebellar hypoplasia, Optic atrophy, Hypertonia, Myoclonus, Fas... ORPHA:284339
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Scoliosis OMIM:619005
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis OMIM:617527
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Short femur, Joint hypermobility, Elliptocytosis, Talipes equinovarus, Broad distal phalanx of fi... OMIM:300990
Plaa-Associated Neurodevelopmental Disorder
Kyphosis ORPHA:521426
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Reactive Arthritis
Osteomyelitis, Joint stiffness, Enthesitis, Weight loss, Arthritis ORPHA:29207
Prader-Willi Syndrome
Kyphosis, Scoliosis OMIM:176270
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Thrombocytopenia ORPHA:470
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... ORPHA:227982
Ramon Syndrome
Kyphosis, Scoliosis OMIM:266270
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Hyperaldosteronism, Hypocalcemia, Myoclonic spasms, Hypomagnesemia, Hypoc... ORPHA:73224
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Histiocytosis, Hepatosplenomegaly OMIM:602782
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Hermansky-Pudlak Syndrome
Neutropenia, Weight loss ORPHA:79430
Malt Lymphoma
Anemia, Weight loss ORPHA:52417
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Abnormal cortical bone mor... ORPHA:93
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1507
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis OMIM:619708
Wolf-Hirschhorn Syndrome
Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the vertebral colu... ORPHA:280
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:464311
Classic Homocystinuria
Kyphosis, Scoliosis ORPHA:394
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies ORPHA:955
Primary Sjögren Syndrome
Normocytic anemia, Abnormal spinal cord morphology, Chorea, Leukopenia, Normochromic anemia, Decr... ORPHA:289390
Dyrk1A-Related Intellectual Disability Syndrome
Kyphosis, Abnormality of the cervical spine, Scoliosis ORPHA:464306
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Kyphosis, Scoliosis, Short neck OMIM:619194
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Poland Syndrome
Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta ORPHA:2911
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Papilledema, Elevated circulating C-reactive protein concentration, Elevated c... ORPHA:91500
Marden-Walker Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2461
Aspartylglucosaminuria
Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spondylolisthesis OMIM:208400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:457359
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervical spinal canal stenosis ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervical spinal canal stenosis ORPHA:363958
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Kyphosis, Lumbar hyperlordosis ORPHA:2232
X-Linked Intellectual Disability, Snyder Type
Kyphosis, Kyphoscoliosis ORPHA:3063
Dermatomyositis
Abnormal eosinophil morphology, Proximal muscle weakness, Weight loss ORPHA:221
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Smith-Lemli-Opitz Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Short neck ORPHA:818
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Mend Syndrome
Kyphosis, Sacral dimple ORPHA:401973
Mend Syndrome
Kyphosis, Sacral dimple OMIM:300960
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Flexion contracture, Weight loss, Arthritis ORPHA:99921
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Pauci-Immune Glomerulonephritis
Granulomatosis ORPHA:93126
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Platyspondyly, Scoliosis ORPHA:534
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Kyphosis, Hypoplasia of the odontoid process, Anterior wedging of T12, Plat... OMIM:300106
Cowden Syndrome
Kyphosis, Scoliosis ORPHA:201
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis OMIM:194190
Limb Body Wall Complex
Abnormal spinal cord morphology, Spina bifida occulta, Anencephaly, Spina bifida ORPHA:2369
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Lumbar kyphosis OMIM:303600
Tetrasomy 9P
Abnormal spinal cord morphology, Lissencephaly, Intrauterine growth retardation, Pachygyria, Poly... ORPHA:3310
Lowe Oculocerebrorenal Syndrome
Kyphosis, Platyspondyly, Scoliosis OMIM:309000
1P36 Deletion Syndrome
Kyphosis, Spinal canal stenosis, Scoliosis ORPHA:1606
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:2273
Neurofibromatosis Type 1
Kyphosis, Scoliosis ORPHA:636
Acromegaly
Kyphosis, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Kyphosis, Spinal canal stenosis ORPHA:314769
Coffin-Siris Syndrome 1
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis OMIM:135900
Williams Syndrome
Sacral dimple, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmenta... ORPHA:904
Turner Syndrome Due To Structural X Chromosome Anomalies
Kyphosis, Scoliosis, Short neck ORPHA:99413
Mosaic Monosomy X
Kyphosis, Scoliosis, Short neck ORPHA:99228
Monosomy X
Kyphosis, Scoliosis, Short neck ORPHA:99226
Turner Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:881
17Q11 Microdeletion Syndrome
Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis ORPHA:97685
Wrinkly Skin Syndrome
Kyphosis, Scoliosis OMIM:278250
Primrose Syndrome
Ataxia, Neurodegeneration, Elevated circulating alpha-fetoprotein concentration OMIM:259050
Goodpasture Syndrome
Weight loss, Anemia, Increased blood urea nitrogen OMIM:233450
Branchiooculofacial Syndrome
Kyphosis, Short neck, Hyperlordosis OMIM:113620
Viss Syndrome
Kyphosis, Butterfly vertebrae, Scoliosis OMIM:619472
Sotos Syndrome
Kyphosis, Abnormal vertebral morphology, Scoliosis, Sacrococcygeal teratoma ORPHA:821
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae OMIM:216340
Alström Syndrome
Kyphosis, Thoracic scoliosis, Lumbar scoliosis ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Galc

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Galc.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines. Metabolites (August 2023) Galctm1b(KOMP)Wtsi PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma. NPJ systems biology and applications (May 2021) Galctm1b(KOMP)Wtsi PMC8163790

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Galctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Galctm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Galctm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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