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Gene: Galc MGI:95636

Gene Summary

Name:

galactosylceramidase

Synonyms:

A930008M05Rik, Gacy, 2310068B06Rik, galactocerebrosidase

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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.

No results meet the p-value threshold

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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.

Combined SHIRPA and Dysmorphology

Images

2 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral 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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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

3 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.

Human diseases associated with Galc (4 diseases)
Human diseases predicted to be associated with Galc (2095 diseases)

The table below shows human diseases associated to Galc by orthology or direct annotation.

Disease	Matching phenotypes	Source
Adult Krabbe Disease	Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Progres...	ORPHA:206448
Krabbe Disease	Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Failu...	OMIM:245200
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Difficulty walking, Decreased nerve c...	ORPHA:206443
Infantile Krabbe Disease	Poor head control, Neck muscle weakness, Lower limb spasticity, Ankle clonus, Cachexia, Decerebra...	ORPHA:206436

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

Disease	Matching phenotypes	Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech	OMIM:613227
Spinocerebellar Ataxia, X-Linked 2	Abnormality of extrapyramidal motor function, Ataxia	OMIM:302600
Optic Atrophy 2	Babinski sign, Dysdiadochokinesis, Tremor	OMIM:311050
Primary Orthostatic Tremor	Abnormality of extrapyramidal motor function, Tremor	ORPHA:238606
Spastic Paraplegia 24, Autosomal Recessive	Spastic paraplegia, Spasticity, Tip-toe gait, Clonus	OMIM:607584
Spastic Paraplegia 72B, Autosomal Recessive	Spastic gait, Babinski sign, Difficulty walking, Spasticity, Gait ataxia	OMIM:620606
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, Impaired proprioception, Ataxia	OMIM:176250
Ataxia With Fasciculations	Fasciculations, Ataxia	OMIM:108700
Episodic Ataxia Type 5	Truncal ataxia, Ataxia	ORPHA:211067
Tremor, Hereditary Essential, 1	Action tremor, Hand tremor, Postural tremor	OMIM:190300
Spinocerebellar Ataxia Type 15/16	Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A...	ORPHA:98769
Cerebellar Ataxia, Benign, With Thermoanalgesia	Progressive cerebellar ataxia, Impaired temperature sensation	OMIM:212890
Spastic Paraplegia 61, Autosomal Recessive	Spastic paraplegia, Inability to walk, Spasticity, Scissor gait	OMIM:615685
Benign Hereditary Chorea	Gait disturbance	ORPHA:1429
Psychogenic Movement Disorders	Gait disturbance	ORPHA:71519
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Episodic Ataxia, Type 1	Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech	OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Atonic-Astatic Syndrome Of Foerster	Abasia, Ataxia, Inability to walk	OMIM:209100
Null Syndrome	Optic atrophy, Difficulty walking, Decreased nerve conduction velocity, Inability to walk, Demyel...	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, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Ataxia, Unsteady gai...	OMIM:616053
Dystonia 22, Adult-Onset	Babinski sign, Torticollis, Retrocollis, Gait disturbance, Focal dystonia, Upper limb postural tr...	OMIM:620456
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Myoclonus, Familial, 1	Frequent falls, Action myoclonus, Action tremor, Ataxia, Myoclonus	OMIM:614937
Spinocerebellar Ataxia 20	Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Postural tremor, Palatal tremor	OMIM:608687
Dystonia 3, Torsion, X-Linked	Chorea, Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication...	OMIM:314250
Spinocerebellar Ataxia Type 4	Impaired proprioception, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired vibratory...	ORPHA:98765
Neuhauser-Eichner-Opitz Syndrome	Hypertonia, Ataxia, Spasticity, Rigidity	ORPHA:2672
Episodic Ataxia, Type 8	Ataxia, Episodic ataxia, Slurred speech, Intention tremor	OMIM:616055
Autosomal Recessive Spastic Paraplegia Type 24	Tip-toe gait, Scissor gait, Spasticity, Clonus, Spastic paraplegia	ORPHA:101004
Spastic Ataxia With Congenital Miosis	Hemiplegia/hemiparesis, Ataxia, Spastic ataxia	ORPHA:1182
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Peripheral axonal degeneration, Difficulty walking, Axonal degenerat...	OMIM:302800
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Dystonia 27	Oromandibular dystonia, Writer's cramp, Torticollis, Limb dystonia, Action tremor, Postural tremo...	OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4	Abnormal pyramidal sign, Difficulty walking, Progressive cerebellar ataxia, Postural tremor	ORPHA:85292
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Upper limb ...	ORPHA:464440
Spastic Paraplegia 72A, Autosomal Dominant	Spastic gait, Babinski sign, Tip-toe gait, Hoffmann sign, Spasticity, Impaired vibration sensatio...	OMIM:615625
Cerebellar Ataxia, Cayman Type	Broad-based gait, Truncal ataxia, Gait ataxia, Intention tremor, Nonprogressive cerebellar ataxia	ORPHA:94122
Spinocerebellar Ataxia, X-Linked 5	Action tremor, Ataxia	OMIM:300703
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral atrophy, Inability to walk, Abnormality of extrapyramidal motor function, Chorea, Spasti...	OMIM:617672
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Leukodystrophy, Tip-t...	OMIM:614877
Autosomal Recessive Spastic Paraplegia Type 71	Spastic gait, Babinski sign, Lower limb spasticity, Hand tremor, Progressive spastic paraplegia	ORPHA:401840
Spinocerebellar Ataxia 37	Unsteady gait, Tremor, Ataxia, Frequent falls	OMIM:615945
Spinocerebellar Ataxia Type 23	Limb ataxia, Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Impaired dist...	ORPHA:101108
Scoliosis, Isolated, Susceptibility To, 1	Scoliosis	OMIM:181800
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia	ORPHA:217012
Cerebellar Ataxia And Neurosensory Deafness	Ataxia	OMIM:212850
Tremor, Hereditary Essential, 5	Bradykinesia, Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor	OMIM:616736
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Ataxia	ORPHA:1180
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Distal sensory impairment, Axonal degeneration, Fasciculations, Gliosis, Tetraplegia, Hyperlipide...	OMIM:604484
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Muscle weakness	ORPHA:139436
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata...	OMIM:614561
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis, Difficulty walking	OMIM:608634
Spinocerebellar Ataxia 43	Limb ataxia, Distal sensory impairment, Tremor, Gait ataxia, Rigidity, Ataxia	OMIM:617018
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor, Gait disturbance	OMIM:611808
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Episodic Kinesigenic Dyskinesia 2	Paroxysmal dyskinesia, Chorea, Dystonia, Involuntary movements	OMIM:611031
Spinocerebellar Ataxia Type 43	Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Peripheral axonal neuropat...	ORPHA:497764
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:610297
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased number of peripheral myelinated nerve fibers, Clusters of axonal regeneration, ...	OMIM:607734
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Spinocerebellar Ataxia Type 38	Somatic sensory dysfunction, Difficulty walking, Tremor, Gait ataxia	ORPHA:423296
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Steppage gait, Difficulty walking, Broad-based gait, Gait ataxia, Vocal cord paresis, Loss of amb...	OMIM:614895
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Autosomal Recessive Spastic Paraplegia Type 32	Babinski sign, Difficulty walking, Cerebellar cortical atrophy, Progressive spasticity, Abnormal ...	ORPHA:171622
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased num...	OMIM:180800
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait	ORPHA:494526
Spinocerebellar Ataxia Type 5	Incoordination, Gait disturbance, Slurred speech	ORPHA:98766
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Spinocerebellar Ataxia Type 30	Limb ataxia, Gait ataxia	ORPHA:211017
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration	Ataxia	OMIM:242520
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Vocal tremor, Head tremor	OMIM:618866
Autosomal Spastic Paraplegia Type 58	Tip-toe gait, Babinski sign, Cerebral atrophy, Torticollis, Erratic myoclonus, Fasciculations, Ch...	ORPHA:397946
Familial Infantile Bilateral Striatal Necrosis	Optic atrophy, Babinski sign, Hypertonia, Astrocytosis, Spasticity, Spastic tetraparesis, Gait di...	ORPHA:225154
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Babinski sign, Limb fascic...	OMIM:615157
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Chorea, Benign Hereditary	Chorea, Gait disturbance, Frequent falls	OMIM:118700
Autosomal Recessive Spastic Paraplegia Type 67	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Cerebral cortical atrophy...	ORPHA:401820
Cerebral Palsy, Ataxic, Autosomal Recessive	Dysdiadochokinesis, Cerebral palsy, Broad-based gait	OMIM:605388
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Involuntary movements, Myoclonus, Postural tremor, Kinetic tremor	OMIM:611092
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait	OMIM:616921
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Babinski sign, Steppage gait, Difficulty walking, Decreased compound muscle action potential ampl...	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	Limb ataxia, Intention tremor, Morning myoclonic jerks, Ataxia, Myoclonus	ORPHA:308
Subacute Inflammatory Demyelinating Polyneuropathy	Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Steppage gait, D...	ORPHA:206594
Spinocerebellar Ataxia 38	Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Per...	OMIM:615957
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Babinski sign, Resting tremor, Spasticity, Cogwheel rigidity, Parkinsonism	OMIM:300911
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Dystonia, Involuntary movements	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
Tremor, Hereditary Essential, 2	Upper limb postural tremor, Kinetic tremor	OMIM:602134
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor	ORPHA:2589
Spinocerebellar Ataxia Type 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Intention tremor, Gait ataxia, Uns...	ORPHA:423275
Adult Krabbe Disease	Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Progres...	ORPHA:206448
Charcot-Marie-Tooth Disease, Type 4A	Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d...	OMIM:214400
Spinocerebellar Ataxia Type 41	Gait ataxia	ORPHA:458798
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Babinski sign, Hypertonia, Steppage gait, Decreased sensory nerve conduction veloc...	OMIM:609260
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria	OMIM:617917
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus	ORPHA:401901
Primary Dystonia, Dyt13 Type	Generalized dystonia, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involu...	ORPHA:98807
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Steppage gait, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formati...	OMIM:620378
Spinocerebellar Ataxia 45	Limb ataxia, Gait ataxia	OMIM:617769
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Progressive Non-Fluent Aphasia	Frontotemporal cerebral atrophy, Apraxia, Abnormality of extrapyramidal motor function, Astrocyto...	ORPHA:100070
Autosomal Spastic Paraplegia Type 30	Spastic gait, Babinski sign, Distal sensory impairment, Scissor gait, Lower limb spasticity, Atax...	ORPHA:101010
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Leukodystrophy, Peripheral demyelination	DECIPHER:59
Spinocerebellar Ataxia Type 35	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Torticollis, Gait ...	ORPHA:276193
Pelizaeus-Merzbacher Disease	Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelination, Spastic paraplegi...	OMIM:312080
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Babinski sign, Spasticity, Tremor, Ataxia	OMIM:611105
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis	ORPHA:231445
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, ...	OMIM:208920
Multifocal Motor Neuropathy	Fasciculations, Progressive distal muscle weakness, Progressive muscle weakness, Limb muscle weak...	ORPHA:641
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Optic atrophy, Peripheral axonal neuropathy, Spastic tetraparesis, Cerebellar atrophy, Spastic at...	ORPHA:496756
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Babinski sign, Apraxia, Abnormal upper motor...	OMIM:221770
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness	Ataxia	OMIM:136600
Urocanase Deficiency	Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia, Dysmetria	OMIM:276880
Dystonia 23	Torticollis, Writer's cramp, Axial dystonia, Limb dystonia, Head tremor, Gait disturbance, Myoclonus	OMIM:614860
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Steppage gait, Difficulty walking, Axonal degeneration/regeneration, Onion bulb formation, Segmen...	OMIM:606483
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech	OMIM:609161
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Hypertrophi...	OMIM:601098
Spinocerebellar Ataxia Type 37	Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Gait disturbance, Cogwheel rigidity...	ORPHA:363710
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Tip-toe gait, Steppage gait, Axonal degeneration, Fasciculations, Decreased motor nerve conductio...	OMIM:614436
Spinocerebellar Ataxia 35	Babinski sign, Impaired proprioception, Difficulty walking, Torticollis, Incoordination, Intentio...	OMIM:613908
Dystonia 16	Bradykinesia, Torticollis, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Unsteady gait, P...	ORPHA:210571
Primary Dystonia, Dyt2 Type	Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt...	ORPHA:99657
Parkinson Disease 17	Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Truncal ataxia, Intention tremor, Unsteady gait, Ataxia, Abnormal pyramida...	OMIM:616948
Paroxysmal Extreme Pain Disorder	Tachycardia, Impaired pain sensation, Bradycardia	OMIM:167400
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Fasciculations, Tremor, Loss of ambulation	OMIM:182980
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Steppage gait, Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelina...	OMIM:118210
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Apraxia, Neuronal loss in central nervous system, Gliosis, Paraparesis, Extrapy...	OMIM:105550
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Difficulty walking, Abnormal nerve conduction velocity, Fall...	ORPHA:2932
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ...	OMIM:182815
Spinocerebellar Ataxia Type 20	Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l...	ORPHA:101110
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Babinski sign, Spasticity, Gliosis, Symmetric peripheral demyelination, Autonomic erectile dysfun...	OMIM:169500
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tip-toe gait, Hypertonia, Unsteady gait, Decreased number of peripheral myelinated nerve fibers, ...	ORPHA:2386
Neuromyelitis Optica Spectrum Disorder	Myelitis, Paraplegia, Optic neuritis, Neuronal loss in central nervous system, Functional abnorma...	ORPHA:71211
Osteomesopyknosis	Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Focal Cortical Dysplasia, Type Ii	Focal white matter lesions, Cortical dysplasia, Astrocytosis, Hemimegalencephaly, Focal cortical ...	OMIM:607341
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor	OMIM:158580
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Babinski sign, Decreased nerve conduction velocity, Spastic tetraparesis, Gait ataxia, CNS demyel...	OMIM:249900
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Spinocerebellar Ataxia Type 25	Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Gait ataxia, Diffuse cerebellar...	ORPHA:101111
Sandhoff Disease, Adult Form	Fasciculations, Sensory axonal neuropathy, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dysto...	ORPHA:309169
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Dystonia, Peripheral demyelination	OMIM:250850
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Babinski sign, Steppage gait, Difficulty walking, Lower limb spasticity, Periphera...	OMIM:615035
X-Linked Charcot-Marie-Tooth Disease Type 5	Optic atrophy, Abnormal nerve conduction velocity, Tremor, Gait disturbance, Paraparesis, Ataxia	ORPHA:99014
Charcot-Marie-Tooth Disease, Type 4J	Peripheral hypomyelination, Decreased nerve conduction velocity, Gait disturbance, Frequent falls...	OMIM:611228
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia, Inability to walk	OMIM:615268
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired tandem gait, Chronic axonal neuropathy, Distal sensory impairment, Impaired tactile sens...	ORPHA:101097
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Ankle weakness, Generalized muscle weakness, Progressive...	ORPHA:98912
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Difficulty walking, Axonal degenerati...	OMIM:601596
Spinocerebellar Ataxia 48	Babinski sign, Cachexia, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria	OMIM:618093
Intellectual Developmental Disorder, Autosomal Recessive 77	Unsteady gait, Head tremor	OMIM:619988
Hypertrophic Neuropathy Of Dejerine-Sottas	Steppage gait, Decreased sensory nerve conduction velocity, Broad-based gait, Hypertrophic nerve ...	OMIM:145900
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax...	ORPHA:95434
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome	Ataxia, Apraxia	ORPHA:85338
Amyotrophic Lateral Sclerosis 8	Progressive muscle weakness, Fasciculations, Distal muscle weakness, Abnormal pyramidal sign, Amy...	OMIM:608627
Choreoathetosis, Familial Inverted	Progressive choreoathetosis, Rigidity, Abnormal pyramidal sign, Gait disturbance	OMIM:118750
X-Linked Non Progressive Cerebellar Ataxia	Spastic dysarthria, Truncal ataxia, Frequent falls, Intention tremor, Action tremor, Nonprogressi...	ORPHA:314978
Autosomal Spastic Paraplegia Type 72	Spastic gait, Rigidity, Impaired vibration sensation at ankles, Postural tremor	ORPHA:401849
Polymyoclonus, Infantile	Ataxia, Myoclonus	OMIM:263550
Dystonia, Dopa-Responsive	Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Spastic...	OMIM:128230
Dystonia 11, Myoclonic	Writer's cramp, Tremor, Torticollis, Myoclonus	OMIM:159900
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Babinski sign, Sensory axonal neuropathy, Hypoplasia of the pons, Decreased number of peripheral ...	OMIM:620542
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis, Segmental peripheral demyelination/remyelination	OMIM:162500
Ataxia, Deafness, And Cardiomyopathy	Ataxia	OMIM:208750
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Dystonia, Ataxia, Peripheral demyelination, Axonal loss	OMIM:616684
Spinocerebellar Ataxia 18	Babinski sign, Sensory axonal neuropathy, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progres...	OMIM:607458
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Dystonia, Frequent falls, Myoclonus	OMIM:619647
Frontotemporal Dementia With Motor Neuron Disease	Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abno...	ORPHA:275872
Parastremmatic Dwarfism	Short neck, Scoliosis, Kyphosis	OMIM:168400
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Spinocerebellar Ataxia 31	Limb ataxia, Ataxia, Gait ataxia	OMIM:117210
Distal Anoctaminopathy	Proximal muscle weakness in upper limbs, Progressive proximal muscle weakness, Progressive muscle...	ORPHA:399096
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Autosomal Recessive Spastic Paraplegia Type 69	Spastic dysarthria, Lower limb spasticity, Cerebral cortical atrophy, Abnormal myelination, Aplas...	ORPHA:401830
Mast Syndrome	Cerebral atrophy, Babinski sign, Hypertonia, Apraxia, Incoordination, Dysdiadochokinesis, Athetos...	OMIM:248900
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l...	OMIM:610245
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus	OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Peripheral axonal neuropathy, Spasticity, Tremor, Cer...	OMIM:607317
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Developmental And Epileptic Encephalopathy 14	Hypoplasia of the corpus callosum, Gliosis, Tetraplegia, Spasticity, Clonus, Microcephaly, Cerebr...	OMIM:614959
Spinocerebellar Ataxia Type 12	Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio...	ORPHA:98762
Spondylocostal Dysostosis 6, Autosomal Recessive	Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis	OMIM:616566
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus...	ORPHA:98897
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Steppage gait, Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers...	OMIM:118200
Autosomal Recessive Spastic Paraplegia Type 43	Spastic gait, Babinski sign, Ankle flexion contracture, Difficulty walking, Spasticity, Poor fine...	ORPHA:320370
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Difficulty walking, Decreased compound muscle action potential amplitude, Axonal d...	OMIM:602433
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradykinesia, Pontocerebellar atrophy, Inability to walk, Lower limb spasticity, Oromotor apraxia...	OMIM:617854
Spinocerebellar Ataxia 12	Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Action tremor, Pa...	OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebral atrophy, Steppage gait, Peripheral axonal neuropathy, Cerebellar atrophy, Ataxia, Decrea...	OMIM:607250
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Babinski sign, Hypertonia, Difficulty walking, Impaired proprioception, Limb ataxia...	ORPHA:251282
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Amish Nemaline Myopathy	Respiratory insufficiency due to muscle weakness, Tremor, Progressive muscle weakness	ORPHA:98902
Cyanide-Induced Parkinsonism-Dystonia	Bradykinesia, Falls, Resting tremor, Shuffling gait, Rigidity, Parkinsonism, Short stepped shuffl...	ORPHA:306692
Dentatorubral-Pallidoluysian Atrophy	Chorea, Dystonia, Ataxia, Parkinsonism, Myoclonus, Choreoathetosis	OMIM:125370
Dystonia 13, Torsion, Autosomal Dominant	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim...	OMIM:607671
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Hypertonia, Gliosis, Spasticity, Reduced cerebral white matter volume, Simplifi...	OMIM:615095
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Broad-based gait, Spasticity, I...	ORPHA:284332
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Spastic Paraparesis And Deafness	Spastic paraparesis, Tremor	OMIM:312910
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Onion bulb formation	OMIM:616039
Sporadic Creutzfeldt-Jakob Disease	Cerebral atrophy, Babinski sign, Cerebral cortex with spongiform changes, Abnormality of extrapyr...	ORPHA:204
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Leukodystrophy, Hypomyelinating, 5	Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In...	OMIM:610532
Dystonia 24	Oromandibular dystonia, Torticollis, Blepharospasm, Head tremor, Limb tremor, Arm dystonia	OMIM:615034
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Steppage gait, Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regene...	OMIM:607677
Spastic Ataxia 2, Autosomal Recessive	Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Frequent falls, Gait ataxia, Head...	OMIM:611302
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Bradykinesia, Babinski sign, Cerebral atrophy, Apraxia, Falls, Spasticity, Cerebellar atrophy, Ga...	OMIM:300423
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Dystonia With Cerebellar Atrophy	Craniofacial dystonia, Progressive cerebellar ataxia, Torticollis, Dystonia	OMIM:611694
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Ataxia, Inability to walk	OMIM:619333
Paroxysmal Exertion-Induced Dyskinesia	Paroxysmal dyskinesia, Lower limb spasticity, Chorea, Torsion dystonia, Involuntary movements, Dy...	ORPHA:98811
Autosomal Dominant Striatal Neurodegeneration	Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity	ORPHA:228169
Neuropathy, Hereditary Motor And Sensory, Russe Type	Peripheral hypomyelination, Difficulty walking, Axonal regeneration, Decreased number of large pe...	OMIM:605285
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Gait ataxia, CNS dem...	ORPHA:217260
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Steppage gait, Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Charcot-Marie-Tooth Disease Type 2B1	Steppage gait, Inability to walk, Axonal degeneration, Sensory axonal neuropathy, Decreased numbe...	ORPHA:98856
Immunoneurologic Disorder, X-Linked	Spastic paraplegia, Progressive proximal muscle weakness, Small for gestational age	OMIM:300076
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Steppage gait, Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers...	OMIM:118220
Migraine, Familial Hemiplegic, 1	Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Steppage gait, Onion bulb formation, Axonal regeneration, Peripheral demyelination	OMIM:615185
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased sensory nerve conduction velocity, Difficulty walking, Axonal regeneration, Decreased m...	OMIM:608323
Corticobasal Syndrome	Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid...	ORPHA:454887
Charcot-Marie-Tooth Disease, Type 4H	Peripheral hypomyelination, Waddling gait, Unsteady gait, Decreased number of peripheral myelinat...	OMIM:609311
Inherited Creutzfeldt-Jakob Disease	Bradykinesia, Babinski sign, Amyloidosis of peripheral nerves, Progressive cerebellar ataxia, Spa...	ORPHA:282166
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Vocal cord paresis, Decreased number of peripher...	OMIM:607706
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Optic atrophy, Cerebral atrophy, Tremor, Cerebellar atrophy, Abnormal autonomic ner...	ORPHA:329284
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Somatic sen...	ORPHA:98763
Alpha-B Crystallin-Related Late-Onset Myopathy	Neck muscle weakness, Progressive proximal muscle weakness, Facial diplegia, Axial muscle weaknes...	ORPHA:399058
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Glut1 Deficiency Syndrome 1	Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis	OMIM:606777
Parkinson Disease 7, Autosomal Recessive Early-Onset	Bradykinesia, Leg dystonia, Resting tremor, Parkinsonism with favorable response to dopaminergic ...	OMIM:606324
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Spinocerebellar Ataxia 11	Limb ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia, Gait ataxia	OMIM:604432
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Cerebellar vermis atrophy, Incoordination, Tremor, Spasticity, Gliosis, Gait ataxia,...	OMIM:213200
Spastic Ataxia, Charlevoix-Saguenay Type	Spastic gait, Babinski sign, Decreased sensory nerve conduction velocity, Falls, Onion bulb forma...	OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Axonal degeneration, Peripheral axonal neuropathy, Vocal cor...	OMIM:615490
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Babinski sign, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia,...	OMIM:604168
Spastic Paraplegia 62, Autosomal Recessive	Spastic gait, Babinski sign, Tip-toe gait, Difficulty walking, Hoffmann sign, Lower limb spastici...	OMIM:615681
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Dystonia 28, Childhood-Onset	Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ...	OMIM:617284
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Gliosis, Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis, Axonal loss	OMIM:300857
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Generalized muscle weakness, Cachexia, Progressive external ophthalmoplegia, Slender build, Ataxi...	OMIM:613662
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Difficulty walking, Gait imbalance, Peripheral a...	ORPHA:99953
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Poor fine motor coordination, Bradycardia	OMIM:617182
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Decreased phosphoribosylpyrophosphate synthetase level, Onion bulb formation, Segm...	OMIM:311070
X-Linked Charcot-Marie-Tooth Disease Type 3	Difficulty walking, Inability to walk, Peripheral axonal neuropathy, Demyelinating peripheral neu...	ORPHA:101077
Porphyria, Acute Hepatic	Paralysis, Paresthesia, Respiratory paralysis	OMIM:612740
Spinocerebellar Ataxia, Autosomal Recessive 6	Spasticity, Intention tremor, Gait ataxia, Ataxia, Clumsiness, Dysmetria	OMIM:608029
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Chorea, Distal muscle weakness, Head titubation, Ataxia, Opisthotonus, Amyotrophic late...	ORPHA:300605
Urocanic Aciduria	Broad-based gait, Truncal ataxia, Gait ataxia, Action tremor, Ataxia	ORPHA:210128
Spastic Ataxia 5, Autosomal Recessive	Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atrophy, Dystonia, Ataxia, Spastic...	OMIM:614487
Dystonia 12	Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism	OMIM:128235
Desminopathy	Distal lower limb muscle weakness, Fatigable weakness of respiratory muscles, Progressive muscle ...	ORPHA:98909
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Ataxia, Myoclonus	OMIM:208700
Alpers-Huttenlocher Syndrome	Spasticity, Progressive spasticity, Paraparesis, Ataxia, Myoclonus, Spastic paraparesis, Choreoat...	ORPHA:726
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Difficulty walking, Distal sensory impairment, Tremor	OMIM:615048
Epilepsy, Progressive Myoclonic, 11	Cerebellar vermis hypoplasia, Cerebellar atrophy, Intention tremor, Rigidity, Ataxia, Giant somat...	OMIM:618876
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Steppage gait, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve cond...	OMIM:605588
Distal Nebulin Myopathy	Progressive proximal muscle weakness, Slender build, Progressive distal muscle weakness, Foot dor...	ORPHA:399103
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Steppage gait, Demyelinating sensory neuropathy, Peripheral axonal neuropathy, Tremor, Cerebellar...	OMIM:618387
Mitochondrial Dna Depletion Syndrome 18	Axonal degeneration, Falls, Tongue fasciculations, Clonus, Elevated urinary quinolinic acid level...	OMIM:618811
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Distal Myopathy With Anterior Tibial Onset	Limb-girdle muscle weakness, Progressive proximal muscle weakness, Tibialis muscle weakness	ORPHA:178400
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Babinski sign, Pontocerebellar atrophy, Difficulty walking, Oculomotor apraxia, Lo...	ORPHA:171629
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor...	OMIM:612736
Basal Ganglia Disease, Biotin-Thiamine Responsive	Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Craniofacial dystonia, ...	OMIM:607483
Cerebrotendinous Xanthomatosis	Abnormal femur morphology, Abnormal finger morphology, Cerebellar atrophy, Prolonged neonatal jau...	ORPHA:909
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Bradykinesia, Apraxia, Gliosis, Spasticity, Corpus callosum atrophy, CNS demyelination, Rigidity,...	OMIM:221820
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Parkinson Disease 19A, Juvenile-Onset	Pill-rolling tremor, Bradykinesia, Limb hypertonia, Spasticity, Shuffling gait, Rigidity, Dystoni...	OMIM:615528
Spinocerebellar Ataxia, X-Linked 1	Abnormality of extrapyramidal motor function, Intention tremor, Action tremor, Ataxia, Unsteady gait	OMIM:302500
Lichtenstein-Knorr Syndrome	Limb ataxia, Dysdiadochokinesis, Gait ataxia, Action tremor, Ataxia, Dysmetria	OMIM:616291
Krabbe Disease	Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Failu...	OMIM:245200
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Morning myoclonic jerks, Bradycardia	ORPHA:2898
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Babinski sign, Cerebral atrophy, Oromandibular dystonia, Scissor gait, Spasticity, ...	ORPHA:521406
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Steppage gait, Decreased compound muscle action potential amplitude, Fasciculations, Decreased nu...	OMIM:600882
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Peroxisome Biogenesis Disorder 11B	Hepatosplenomegaly, Muscle weakness, Progressive muscle weakness	OMIM:614885
Chorea, Benign Familial	Chorea	OMIM:215450
Spinocerebellar Ataxia Type 28	Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Head tremor, Gait ataxia, Rigidity, Dyston...	ORPHA:101109
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat...	ORPHA:314632
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Steppage gait, Peripheral axonal neuropathy, Onion bul...	OMIM:610100
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Babinski sign, Cerebellar cortical atrophy, Atrophy/Degeneration affecting the bra...	OMIM:271245
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation	ORPHA:98916
Spinocerebellar Ataxia, Autosomal Recessive 14	Spasticity, Dysdiadochokinesis, Intention tremor, Gait ataxia, Unsteady gait, Dysmetria	OMIM:615386
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Babinski sign, Astrocytosis, Gait disturbance, Rigidity, Dystonia, Myoclonus	OMIM:600795
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Myopathy, Myofibrillar, 4	Progressive proximal muscle weakness, Progressive muscle weakness, Progressive distal muscle weak...	OMIM:609452
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Limb ataxia, Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Oculomotor apraxia...	ORPHA:284324
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Ch...	ORPHA:53583
Huntington Disease-Like 2	Chorea, Involuntary movements, Cerebral cortical atrophy, Dystonia, Parkinsonism, Weight loss, Ab...	ORPHA:98934
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav...	OMIM:606693
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
3-Methylglutaconic Aciduria Type 3	Spastic paraparesis, Choreoathetosis, Ataxia, Gait disturbance	ORPHA:67047
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous sys...	OMIM:615362
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Babinski sign, Tip-toe gait, Urinary incontinence, Lower limb spasticity, Impaired ...	OMIM:604360
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination, Decreased nerve conduction velocity, Gait disturbance	ORPHA:99944
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor	OMIM:617863
Neurodegeneration With Brain Iron Accumulation 6	Bradykinesia, Tip-toe gait, Oromandibular dystonia, Gait disturbance, Motor axonal neuropathy, Ri...	OMIM:615643
Hemimegalencephaly	Optic atrophy, Hyperintensity of cerebral white matter on MRI, Polymicrogyria, Gliosis, Hemimegal...	ORPHA:99802
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Steppage gait, Distal sensory impairment, Hammer...	OMIM:607684
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Neurodegeneration With Brain Iron Accumulation 7	Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Loss of am...	OMIM:617916
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee...	OMIM:600116
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Tongue fasciculations, Spasticity, Microcephaly, Failure to thrive, D...	OMIM:618276
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Poor head control, Tremor, Failure to thrive, Dystonia, Myoclonus	OMIM:619651
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Hypertonia, Spasticity, Tremor, Subcortical cerebral atrophy, Cerebral cortical at...	ORPHA:33445
Charcot-Marie-Tooth Disease, Type 4B2	Steppage gait, Difficulty walking, Decreased number of peripheral myelinated nerve fibers, Decrea...	OMIM:604563
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis, Paresthesia	ORPHA:640
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Spastic Ataxia 4, Autosomal Recessive	Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Lower limb hypertonia, Spastic ataxia, Sp...	OMIM:613672
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Steppage gait, Decreased nerve conduction velocity, Paraparesis	OMIM:302802
Chorea, Childhood-Onset, With Psychomotor Retardation	Chorea, Involuntary movements	OMIM:616939
Spastic Paraparesis-Deafness Syndrome	Hemiplegia/hemiparesis, Spastic paraparesis, Ataxia, Gait disturbance	ORPHA:2815
Adult Neuronal Ceroid Lipofuscinosis	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign...	ORPHA:79262
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Axonal degeneration/regeneration, Peripheral demyelination	OMIM:607736
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto...	OMIM:617145
Parkinson Disease 6, Autosomal Recessive Early-Onset	Bradykinesia, Resting tremor, Rigidity, Dystonia, Parkinsonism	OMIM:605909
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased number ...	OMIM:608673
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Spinocerebellar Ataxia 15	Limb ataxia, Truncal ataxia, Gait ataxia, Action tremor, Postural tremor	OMIM:606658
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Mitochondrial Membrane Protein-Associated Neurodegeneration	Bradykinesia, Babinski sign, Optic atrophy, Spasticity, Shuffling gait, Frequent falls, Gait dist...	ORPHA:289560
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Spastic Paraplegia 75, Autosomal Recessive	Spastic gait, Babinski sign, Optic atrophy, Spastic dysarthria, Spasticity, Cerebellar atrophy, C...	OMIM:616680
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Hand tremor, Oromandibular dystonia, Torticollis, Blepharospasm, Limb dystonia, Upper limb postur...	ORPHA:420485
Spinocerebellar Ataxia, Autosomal Recessive 10	Limb ataxia, Babinski sign, Fasciculations, Truncal ataxia, Gait ataxia, Intention tremor, Dysmetria	OMIM:613728
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Babinski sign, Oculomotor apraxia, Truncal ataxia, Frequent falls, Gait ataxia, Intention tremor,...	ORPHA:453521
Laing Early-Onset Distal Myopathy	Neck muscle weakness, Progressive muscle weakness, Weakness of orbicularis oculi muscle, Distal m...	ORPHA:59135
Alexander Disease Type I	Focal T2 hyperintense basal ganglia lesion, Cachexia, Spasticity, Failure to thrive, Ataxia, Abno...	ORPHA:363717
Monomelic Amyotrophy	Fasciculations, Tremor, Degeneration of anterior horn cells, Muscle weakness	ORPHA:65684
Optic Atrophy 3, Autosomal Dominant	Abnormality of extrapyramidal motor function, Tremor	OMIM:165300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Peroneal muscle weakness, Progressive muscle weakness, Gowers sign, Frequent falls, Proximal musc...	OMIM:611588
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis	OMIM:615924
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Bradykinesia, Fasciculations, Spasticity, Rigidity, Ataxia	OMIM:183050
Paroxysmal Kinesigenic Dyskinesia	Writer's cramp, Chorea, Athetosis, Involuntary movements, Dystonia	ORPHA:98809
Dystonia 22, Juvenile-Onset	Oromandibular dystonia, Torticollis, Lower limb spasticity, Dysdiadochokinesis, Intention tremor,...	OMIM:620453
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu...	ORPHA:71277
Leukodystrophy, Hypomyelinating, 2	Optic atrophy, Babinski sign, Cerebral atrophy, Demyelinating motor neuropathy, Sensory axonal ne...	OMIM:608804
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spastic dysarthria, Oculomotor apraxia, Peripheral axonal neuropathy, Spasticity, Dysdiadochokine...	ORPHA:313772
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis, Difficulty walking, Distal sensory impairment	OMIM:613710
Myopathy, Scapulohumeroperoneal	Progressive muscle weakness, Facial palsy, Foot dorsiflexor weakness, Neck flexor weakness, Wrist...	OMIM:616852
Dystonia 7, Torsion	Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Blepharospasm, Clumsiness,...	OMIM:602124
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Global brain atrophy, Aplasia of the inferior half of the cerebellar vermis, Atrophy of the denta...	OMIM:610185
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia...	OMIM:213600
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor, Progressive muscle weakness	OMIM:605355
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, CNS hypomyelination, Leukodystrophy	OMIM:616494
Dystonia 2, Torsion, Autosomal Recessive	Torsion dystonia, Tremor, Blepharospasm, Torticollis	OMIM:224500
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel...	OMIM:605253
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Difficulty walking, Myoclonus	OMIM:613608
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Falls, Resting tremor, Peripheral axonal neuropathy, Cerebellar atro...	OMIM:617225
Riboflavin Transporter Deficiency	Bulbar palsy, Cachexia, Tremor, Facial palsy, Limb muscle weakness, Ataxia, Muscle weakness, Myoc...	ORPHA:97229
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Spinocerebellar Ataxia 7	Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ...	OMIM:164500
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Impaired proprioception, Hyperintensity of MRI T2 signal of the spinal cord, Urina...	OMIM:609033
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Frequent falls, Lower limb hypertoni...	ORPHA:254343
Papular Xanthoma	Histiocytosis	ORPHA:158008
Spinocerebellar Ataxia 17	Bradykinesia, Limb ataxia, Apraxia, Chorea, Gliosis, Gait ataxia, Intention tremor, Rigidity, Dif...	OMIM:607136
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
X-Linked Progressive Cerebellar Ataxia	Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Cerebellar vermis ...	ORPHA:1175
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Steppage gait, Peripheral demyelination, Onion bulb formation, Decreased number of large peripher...	OMIM:608340
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Axial muscle weakness, Progressive proximal muscle weakness, Respiratory insufficiency due to mus...	ORPHA:663
Spinocerebellar Ataxia Type 2	Cerebellar Purkinje layer atrophy, Progressive cerebellar ataxia, Fasciculations, Chorea, Spinal ...	ORPHA:98756
Atypical Juvenile Parkinsonism	Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta...	ORPHA:391411
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Isaacs Syndrome	Fasciculations, Weight loss, Muscle weakness	ORPHA:84142
Amyotrophic Lateral Sclerosis 27, Juvenile	Progressive muscle weakness, Lower limb spasticity, Generalized muscle weakness, Tongue fascicula...	OMIM:620285
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Action tremor, Rigidity, Splenomegaly, A...	ORPHA:309854
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Sensory axonal neuropathy, Tremor, Cer...	ORPHA:98764
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Cerebral atrophy, Akinesia, Tremor, Cerebellar atrophy, Abnormal autonomic nervous ...	OMIM:300894
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Decreased number of large periph...	OMIM:617087
Epilepsy, Progressive Myoclonic, 8	Limb ataxia, Falls, Truncal ataxia, Atrophy/Degeneration affecting the brainstem, Cerebellar atro...	OMIM:616230
Parkinson Disease 22, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ga...	OMIM:616710
Charcot-Marie-Tooth Disease Type 4A	Demyelinating peripheral neuropathy, Poor gross motor coordination, Impaired distal vibration sen...	ORPHA:99948
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Platyspondyly	ORPHA:93304
Familial Dyskinesia And Facial Myokymia	Difficulty walking, Limb hypertonia, Resting tremor, Chorea, Dystonia, Myoclonus	ORPHA:324588
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Lower limb spasticity, Sensory ataxia, Intention tremor, Gait ataxia, Impaired vibratory sensation	OMIM:620221
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction, Limb dystonia...	ORPHA:216873
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy, Tremor, Spasticity, Delayed myelinatio...	ORPHA:599373
Myopathy And Diabetes Mellitus	Babinski sign, Progressive cerebellar ataxia, Progressive proximal muscle weakness, Weakness of o...	ORPHA:2596
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Axonal degeneration, Spasticity, Cerebellar atrophy, Optic n...	OMIM:616811
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Behr Syndrome	Optic atrophy, Babinski sign, Truncal ataxia, Cerebellar vermis atrophy, Tremor, Cerebellar atrop...	OMIM:210000
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:600363
Behavioral Variant Of Frontotemporal Dementia	Fasciculations, Abnormality of extrapyramidal motor function, Astrocytosis, Upper motor neuron dy...	ORPHA:275864
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Abnormal cerebellar peduncle mo...	ORPHA:98
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Babinski sign, Difficulty walking, Lower limb spasticity, Atrophy/Degeneration aff...	OMIM:612319
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis, Simplified gyral pattern	OMIM:618328
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Neuropathy, Congenital Hypomyelinating, 2	Inability to walk, Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Decre...	OMIM:618184
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Spastic gait, Babinski sign, Dysplastic corpus callosum, Optic...	OMIM:613162
Spinocerebellar Ataxia Type 17	Cerebellar Purkinje layer atrophy, Torticollis, Writer's cramp, Chorea, Atrophy/Degeneration affe...	ORPHA:98759
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Impaired proprioception, Truncal titubation, Abnormal peripheral nerve morphology by anatomical s...	ORPHA:88628
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Axonal degeneration, Abnormal autonomic nervous system physiology, Optic ne...	ORPHA:478029
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Ataxia, Sensory, 1, Autosomal Dominant	Abnormal vestibulo-ocular reflex, Babinski sign, Gait instability, worse in the dark, Impaired di...	OMIM:608984
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Cerebellar vermis hypoplasia, Tremor, Cerebellar atrophy, Gait disturbance, Ga...	OMIM:618090
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Huntington Disease-Like 1	Bradykinesia, Abnormal basal ganglia morphology, Gliosis, Chorea, Incoordination, Poor fine motor...	ORPHA:157941
Autosomal Recessive Spastic Paraplegia Type 70	Hand tremor, Lower limb spasticity, Progressive spastic paraplegia	ORPHA:401835
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Difficulty walking, Inability to walk, Diabetes insipidus, Astrocytosis, Slender build, Joint hyp...	OMIM:611087
Metachromatic Leukodystrophy	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Chorea, Tetraplegia, Gait dist...	OMIM:250100
Hereditary Butyrylcholinesterase Deficiency	Paralysis, Abnormal circulating enzyme concentration or activity	ORPHA:132
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:620482
Spastic Paraplegia 30, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Spastic paraplegia, Ataxia, Ankle clonus, Dys...	OMIM:610357
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Paget Disease Of Bone 2, Early-Onset	Elevated circulating alkaline phosphatase concentration, Osteosclerosis of the ulna, Fractures of...	OMIM:602080
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	External ophthalmoplegia, Cachexia, Gait ataxia, Failure to thrive, Weight loss	OMIM:612075
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Steppage gait, Distal sensory impairment, Elevated circulating creatine kinase concentration, Foc...	OMIM:614455
Autosomal Recessive Spastic Paraplegia Type 25	Spastic paraplegia, Abnormality of peripheral nerve conduction, Paraparesis	ORPHA:101005
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, C...	OMIM:617810
Epilepsy, Progressive Myoclonic, 12	Difficulty walking, Ataxia, Dysmetria, Myoclonus	OMIM:619191
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Generalized muscle weakness, Bulbar palsy, Progressive proximal muscle weakness, Distal muscle we...	ORPHA:254875
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Facial diplegia, Vocal cord paralysis	OMIM:616287
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ...	ORPHA:79243
Spinocerebellar Ataxia 19	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Cogwheel rigidity, Gait ataxia, Myocl...	OMIM:607346
Primary Angiitis Of The Central Nervous System	Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema	ORPHA:140989
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Progressive proximal muscle weakness, Facial palsy, Limb muscle weakness, Dystonia, Proximal musc...	OMIM:167320
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Distal sensory impairment, Claw hand deformity, Hammertoe, O...	OMIM:601455
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Tremor, Myoclonus	OMIM:615400
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Spastic Paraplegia, Ataxia, And Mental Retardation	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:607565
Pontocerebellar Hypoplasia, Type 1A	Limb ataxia, Fasciculations, Tongue fasciculations, Demyelinating peripheral neuropathy, Congenit...	OMIM:607596
X-Linked Charcot-Marie-Tooth Disease Type 1	Impaired pain sensation, Tremor, Ataxia, Gait disturbance	ORPHA:101075
Dystonia 16	Bradykinesia, Retrocollis, Limb dystonia, Involuntary movements, Gait disturbance, Abnormal pyram...	OMIM:612067
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Secondary microcephaly, Dysplastic corpus callosum, Spasticity, Reduced cerebral white matter vol...	OMIM:620317
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, At...	OMIM:612438
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Peripheral hypomyelination, Flexion contracture of toe, Chorea, Finger joint contracture, Osteopo...	ORPHA:48431
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Demyelinating motor neuropathy, Babinski sign, Ankle clonus, Progressive spasticity, Upper motor ...	ORPHA:506353
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity	Babinski sign, Impaired proprioception, Progressive cerebellar ataxia, Spastic dysarthria, Lower ...	ORPHA:352641
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Osteochondrosis Of The Metatarsal Bone	Difficulty walking, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthrit...	ORPHA:564003
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ...	OMIM:614831
Spinocerebellar Ataxia, Autosomal Recessive 17	Limb ataxia, Oculomotor apraxia, Broad-based gait, Truncal ataxia, Frequent falls, Gait ataxia, I...	OMIM:616127
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Progressive muscle weakness, Pappenheimer bodies, Gowers sign, Failure to thrive, Sideroblastic a...	OMIM:600462
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Steppage gait, Distal sensory impairment, Gait disturbance, Axonal degeneration	OMIM:616155
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Gliosis, Tremor, Spasticity, Microcephaly, Short stature, Abnormal cerebr...	OMIM:300957
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Cerebellar atrop...	ORPHA:330050
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Steppage gait, Distal sensory impairment, Claw hand deformity, Chronic axonal neuropathy, Fascicu...	OMIM:606595
Diaminopentanuria	Spasticity, Ataxia, Hyperlysinuria, Neurodegeneration, Cystinuria	OMIM:222350
Huntington Disease	Bradykinesia, Chorea, Gliosis, Neuronal loss in central nervous system, Cerebellar atrophy, Gait ...	OMIM:143100
Amyotrophic Lateral Sclerosis	Babinski sign, Fatigable weakness of respiratory muscles, Generalized muscle weakness, Fatigable ...	ORPHA:803
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav...	ORPHA:53351
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Axonal degeneration, Peripheral axonal neuropathy, Diaphragmatic paralysis, Craniofacial dystonia...	OMIM:620011
Molybdenum Cofactor Deficiency, Complementation Group A	Cerebral atrophy, Xanthinuria, Decreased urinary sulfate, Gliosis, Increased urinary taurine, Dec...	OMIM:252150
L-2-Hydroxyglutaric Aciduria	Optic atrophy, Abnormality of extrapyramidal motor function, Gliosis, Spastic tetraparesis, Abnor...	OMIM:236792
Pontocerebellar Hypoplasia, Type 4	Hypertonia, Gliosis, Spasticity, Microcephaly, Myoclonus	OMIM:225753
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Epilepsy, Progressive Myoclonic, 6	Difficulty walking, Tremor, Loss of ambulation, Ataxia, Myoclonus	OMIM:614018
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Spinocerebellar Ataxia 50	Apraxia, Chorea, Cerebellar vermis atrophy, Cerebellar atrophy, Head tremor, Action tremor, Ataxi...	OMIM:620158
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Arts Syndrome	Tetraplegia, Ataxia, Progressive muscle weakness	OMIM:301835
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Progressive cerebellar ataxia, Cere...	ORPHA:137898
Dystonia 37, Early-Onset, With Striatal Lesions	Leg dystonia, Oculomotor apraxia, Chorea, Loss of ambulation, Ataxia, Generalized dystonia, Chore...	OMIM:620427
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Ceroid Lipofuscinosis, Neuronal, 5	Dysdiadochokinesis, Cerebellar atrophy, Cerebral cortical atrophy, Limb tremor, Ataxia, Loss of a...	OMIM:256731
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Anemia, Macrocytic anemia, Paraparesis, Hyperammonemia, Ataxia, Leukopenia, Thromb...	ORPHA:27
Congenital Neuronal Ceroid Lipofuscinosis	Abnormal astrocyte morphology, Gliosis, Spasticity, Cerebral hypoplasia, Microcephaly, Diffuse de...	ORPHA:168486
Infantile Refsum Disease	Progressive muscle weakness, Spasticity, Facial palsy, Failure to thrive, Ataxia	ORPHA:772
Spinocerebellar Ataxia Type 26	Limb ataxia, Babinski sign, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia	ORPHA:101112
X-Linked Charcot-Marie-Tooth Disease Type 4	Impaired pain sensation, Tremor, Ataxia, Gait disturbance	ORPHA:101078
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Benign Adult Familial Myoclonic Epilepsy	Hand tremor, Myoclonus	ORPHA:86814
Diencephalic Syndrome	Optic atrophy, Cachexia, Decreased body weight	ORPHA:1672
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Poor fine motor coordination, Ventricular escape rhythm, Arrhyt...	ORPHA:542306
Alexander Disease Type Ii	Babinski sign, Spasticity, Abnormal autonomic nervous system physiology, Abnormal medulla oblonga...	ORPHA:363722
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Pelizaeus-Merzbacher Disease, Connatal Form	Confluent hyperintensity of cerebral white matter on MRI, Lower limb spasticity, Gliosis, Titubat...	ORPHA:280210
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Chorea, Spasticity, Tremor, Cerebellar atrophy, Poor fine motor coordination, B...	ORPHA:79263
Spinocerebellar Ataxia 4	Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb dysmetria	OMIM:600223
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Steppage gait, Decreased number of large peripheral my...	OMIM:615376
Rapid-Onset Dystonia-Parkinsonism	Bradykinesia, Torticollis, Resting tremor, Craniofacial dystonia, Limb dystonia, Gait ataxia, Par...	ORPHA:71517
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:611225
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Congenital Muscular Dystrophy Due To Lmna Mutation	Axial muscle weakness, Cachexia, Poor head control	ORPHA:157973
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Cerebral cortical atrophy, ...	OMIM:607694
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Optic atrophy, Babinski sign, Hypertonia, Thin corpus callosum, Limb hypertonia, Progressive micr...	OMIM:614498
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Kyphoscoliosis, Thoracolumbar kyphosis	OMIM:236660
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Progressive muscle weakness, Normochromic anemia, Ma...	OMIM:615512
Duchenne Muscular Dystrophy	Proximal muscle weakness, Progressive muscle weakness	ORPHA:98896
Distal Myotilinopathy	Progressive proximal muscle weakness, Progressive distal muscle weakness	ORPHA:98911
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck	OMIM:300718
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos...	OMIM:271530
Spinocerebellar Ataxia 27B, Late-Onset	Limb ataxia, Postural tremor, Gait ataxia	OMIM:620174
Spinocerebellar Ataxia 44	Spasticity, Dysdiadochokinesis, Frequent falls, Gait ataxia, Ataxia, Dysmetria	OMIM:617691
Parkinson Disease 21	Bradykinesia, Rigidity, Tremor, Parkinsonism	OMIM:616361
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Ataxia, Myoclonus, Impaired tandem gait, Dysmetria	OMIM:619028
Congenital Myopathy 10B, Mild Variant	Progressive muscle weakness, Neck muscle weakness, Generalized muscle weakness, Limb muscle weakn...	OMIM:620249
Spinocerebellar Ataxia, Autosomal Recessive 32	Bradykinesia, Limb ataxia, Torticollis, Abnormal nerve conduction velocity, Atrophy/Degeneration ...	OMIM:619862
Marinesco-Sjogren Syndrome	Limb ataxia, Progressive muscle weakness, Spasticity, Gait ataxia, Failure to thrive, Ataxia	OMIM:248800
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor, Muscle weakness	OMIM:253550
Molybdenum Cofactor Deficiency, Complementation Group B	Cerebral atrophy, Hypertonia, Xanthinuria, Gliosis, Increased urinary taurine, Decreased urinary ...	OMIM:252160
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Bradykinesia, Progressive muscle weakness, Resting tremor, Parkinsonism with favorable response t...	OMIM:157640
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramidal muscular rigid...	ORPHA:99750
Mitochondrial Complex I Deficiency, Nuclear Type 13	Spasticity, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Waddling gait, Inability to walk	OMIM:616269
Mulibrey Nanism	Cachexia	ORPHA:2576
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Akinesia, Spastic dysarthria, Gait imbalance, Oculomotor apraxia, Falls, Freezing of gait, Blepha...	ORPHA:240094
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Limb ataxia, Truncal ataxia, Gait disturbance, Ataxia, Unsteady gait	ORPHA:284271
Autosomal Dominant Spastic Paraplegia Type 6	Babinski sign, Lower limb spasticity, Gait disturbance, Spastic paraplegia, Impaired vibratory se...	ORPHA:100988
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Spinocerebellar Ataxia 25	Babinski sign, Oculomotor apraxia, Cerebellar atrophy, Ataxia, Decreased number of peripheral mye...	OMIM:608703
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Prune1-Related Neurological Syndrome	Optic atrophy, Cerebral atrophy, Inability to walk, Tongue fasciculations, Spastic tetraparesis, ...	ORPHA:544469
Finnish Upper Limb-Onset Distal Myopathy	Clumsiness, Progressive proximal muscle weakness, Progressive distal muscle weakness	ORPHA:399086
Spastic Paraplegia 48, Autosomal Recessive	Spastic gait, Tip-toe gait, Lower limb spasticity, Broad-based gait, Spastic paraplegia, Ataxia, ...	OMIM:613647
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Ataxia	ORPHA:1368
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Axonal degeneration, Diaphragmatic paralysis, Degeneration of anterior horn...	OMIM:604320
Spinocerebellar Ataxia 29	Limb ataxia, Truncal titubation, Broad-based gait, Dysdiadochokinesis, Gait ataxia, Intention tre...	OMIM:117360
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Vocal cord paralysis	OMIM:607641
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Progressive cerebellar ataxia, Truncal ataxia, Spasticity, Dysdiadochokinesis, Intention tremor, ...	ORPHA:352403
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal...	OMIM:616719
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Sensory axonal neuropathy, Facial palsy, Abnormal cerebellum morphology, Spastic p...	OMIM:256850
Lower Motor Neuron Syndrome With Late-Adult Onset	Inability to walk, Fasciculations, Tongue fasciculations, Tremor, Impaired distal vibration sensa...	ORPHA:276435
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Spasticity, Gliosis, Cessation of head growth, CNS demyelination, Leukoencephalopa...	OMIM:603896
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Dystonia, Parkinsonism, Clums...	OMIM:619911
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Paralysis, Parkinsonism	OMIM:105500
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga...	ORPHA:98773
Spinocerebellar Ataxia Type 1	Bradykinesia, Optic atrophy, Progressive cerebellar ataxia, Gait imbalance, Abnormal nerve conduc...	ORPHA:98755
Spinocerebellar Ataxia, Autosomal Recessive 27	Torticollis, Gliosis, Spasticity, Frequent falls, Gait ataxia, Cerebral cortical atrophy, Lower l...	OMIM:618369
Leigh Syndrome	Optic atrophy, Gliosis, Spasticity, Focal substantia nigra T2 hyperintensity, Failure to thrive, ...	OMIM:256000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Spasticity, Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral atrophy, Babinski sign, Hypertonia, Gliosis, Spasticity, Cerebral palsy, Limb dystonia, ...	OMIM:619847
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Peripheral demyelination, Oligohydramnios, Abnormal renal corticomedullary diffe...	OMIM:616733
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Dystonia, Ataxia, ...	OMIM:618049
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Distal lower limb muscle weakness, Bilateral facial palsy, Generalized muscle weakness, Gowers si...	ORPHA:254361
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Brain atrophy, Gait disturbance, Loss of ambulation, Onion b...	OMIM:615284
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Peripheral axona...	ORPHA:320406
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss...	ORPHA:101
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Spastic gait, Babinski sign, Limb fasciculations, Increased spinal bone density, Tongue fascicula...	ORPHA:329475
Adrenomyeloneuropathy	Spastic gait, Babinski sign, Urinary incontinence, Distal sensory impairment, Cerebral dysmyelina...	ORPHA:139399
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Chor...	OMIM:613135
Huntington Disease-Like 2	Bradykinesia, Chorea, Action tremor, Rigidity, Dystonia, Weight loss	OMIM:606438
Hsd10 Disease	Optic atrophy, Frontotemporal cerebral atrophy, Tremor, Gait disturbance, Rigidity, Ataxia, Myocl...	ORPHA:391417
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Autosomal Recessive Spastic Paraplegia Type 11	Inability to walk, Orthostatic hypotension, Abnormality of extrapyramidal motor function, Periphe...	ORPHA:2822
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Histiocytosis, Familial Lipochrome	Histiocytosis	OMIM:235900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Elevated circulating creatine kinase concentration, Axonal degeneration	OMIM:618138
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia	OMIM:617836
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Microcephaly, Gliosis, Bilateral basal ganglia lesions, Lower limb spasticity	OMIM:615119
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness	OMIM:619024
Congenital Disorder Of Glycosylation, Type Iibb	Cerebellar vermis hypoplasia, Spasticity, Tremor, Cerebellar atrophy, Delayed CNS myelination, An...	OMIM:620546
Tetanus	Hypertonia, Bradycardia, Hypertension, Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal m...	ORPHA:3299
Spinocerebellar Ataxia, Autosomal Recessive 7	Limb ataxia, Babinski sign, Truncal titubation, Oculomotor apraxia, Gait ataxia, Ataxia, Unsteady...	OMIM:609270
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Babinski sign, Progressive cerebellar ataxia, Dysdiadochokinesis, Intention tremor, Gait ataxia, ...	ORPHA:504476
Spinocerebellar Ataxia, Autosomal Recessive 26	Limb ataxia, Oculomotor apraxia, Impaired distal proprioception, Positive Romberg sign, Dysdiadoc...	OMIM:617633
Autosomal Dominant Spastic Paraplegia Type 73	Spastic gait, Babinski sign, Difficulty walking, Lower limb spasticity, Progressive spastic parap...	ORPHA:444099
Muscular Dystrophy, Congenital, With Or Without Seizures	Progressive muscle weakness, Frequent falls, Ataxia, Muscle weakness, Proximal muscle weakness	OMIM:620166
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye...	OMIM:601382
Combined Oxidative Phosphorylation Deficiency 45	Failure to thrive, Tremor, Ataxia, Muscle weakness	OMIM:618951
Moynahan Syndrome	Microcephaly, Cachexia, Short stature	ORPHA:2574
Myoclonic-Atonic Epilepsy	Eyelid myoclonus, Tremor, Ataxia	OMIM:616421
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Tremor, Cerebellar atrophy, Ataxia, Spastic ataxia, Unsteady gait, A...	OMIM:616795
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Cerebral atrophy, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebe...	OMIM:617435
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Babinski sign, Inability to walk by childhood/adolescence, Somatic sensory dysfunc...	ORPHA:99947
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Ataxia	OMIM:278780
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Paroxysmal dyskinesia, Neck muscle weakness, Limb hypertonia, Generalized muscle weakness, Restin...	OMIM:606703
Spastic Paraplegia 20, Autosomal Recessive	Spastic gait, Cerebellar atrophy, Knee clonus, Spastic paraplegia, Clinodactyly, Babinski sign, D...	OMIM:275900
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Cerebellar hypoplasia, Tremor, Ataxia, Limb dystonia	OMIM:620270
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Tracheomalacia, As...	OMIM:203700
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Babinski sign, Scissor gait, Resting tremor, Spasticity, Cogwheel rigidity, Ankle c...	ORPHA:363654
Glutaric Acidemia I	Symmetrical progressive peripheral demyelination, Delayed myelination, Failure to thrive, Rigidit...	OMIM:231670
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Tip-toe gait, Babinski sign, Steppage gait, Lower limb spasticity, Broad-based gait, Fasciculatio...	OMIM:615290
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Developmental And Epileptic Encephalopathy 82	Cerebral atrophy, Inability to walk, Cerebellar vermis hypoplasia, Spastic tetraplegia, Spastic p...	OMIM:618721
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism, Rigidity	OMIM:614251
Hyperphenylalaninemia, Bh4-Deficient, C	Hypertonia, Tremor, Dystonia, Myoclonus, Choreoathetosis	OMIM:261630
Spastic Paraplegia 50, Autosomal Recessive	Hypoplasia of the corpus callosum, Babinski sign, Limb hypertonia, Gliosis, Cerebral palsy, Micro...	OMIM:612936
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Tremor, Cerebral cortical atrophy, Ataxia, Delayed CNS myelination	OMIM:300983
Spastic Paraplegia 70, Autosomal Recessive	Fasciculations, Spasticity, Achilles tendon contracture, Ankle clonus, Somatic sensory dysfunction	OMIM:620323
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath...	OMIM:615745
Developmental And Epileptic Encephalopathy 101	Myoclonus, Third degree atrioventricular block, Opisthotonus, Bradycardia	OMIM:619814
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Anemia, Ab...	ORPHA:1802
Adult-Onset Cervical Dystonia, Dyt23 Type	Difficulty walking, Torticollis, Writer's cramp, Axial dystonia, Craniofacial dystonia, Head trem...	ORPHA:420492
Pontocerebellar Hypoplasia, Type 2A	Optic atrophy, Progressive microcephaly, Gliosis, Chorea, Abnormal periventricular white matter m...	OMIM:277470
Oculopharyngeal Myopathy With Leukoencephalopathy 1	External ophthalmoplegia, Tremor, Distal muscle weakness, Ataxia, Proximal muscle weakness	OMIM:618637
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Acute Peripheral Arterial Occlusion	Paralysis, Impaired distal tactile sensation, Paresthesia	ORPHA:90064
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus	OMIM:618587
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Chorea, Cerebellar vermis atrophy,...	ORPHA:248111
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Sclerosteosis	Diaphyseal undertubulation, Optic atrophy, Abnormal cortical bone morphology, Craniofacial hypero...	ORPHA:3152
Sandhoff Disease, Juvenile Form	Acroparesthesia, Fasciculations, Incoordination, Abnormality of extrapyramidal motor function, Ce...	ORPHA:309162
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Babinski sign, Hypertonia, Difficulty walking, Distal sensory impairment, Fasciculations, Incoord...	OMIM:616688
Christianson Syndrome	Cachexia, Truncal ataxia, Gait ataxia, Microcephaly, Cerebral cortical atrophy, Dystonia, Aplasia...	ORPHA:85278
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Abnormal brainstem MRI signal intensity, Difficulty walking, Inability to walk, Pe...	ORPHA:254930
Lipoyltransferase 1 Deficiency	Abnormality of extrapyramidal motor function, Spastic tetraparesis, Pulmonary arterial hypertensi...	OMIM:616299
Myoclonic Epilepsy, Familial Infantile	Limb ataxia, Impaired tandem gait, Ataxia, Gait ataxia	OMIM:605021
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Intervertebral s...	OMIM:271630
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tongue fasciculations, Gowers sign, Tremor, Facial palsy, Frequent falls, Respiratory insufficien...	OMIM:159950
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Gliosis, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:604218
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor...	ORPHA:1170
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Spasticity, Abnormal...	ORPHA:99852
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Peripheral ax...	OMIM:616505
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive muscle weakness, Progressive external ophthalmoplegia, Limb muscle weakness, Parkinso...	OMIM:609286
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cranial hyperostosis, Decreased response to growth hormone stimulation test, Hyperkinetic movemen...	ORPHA:457240
Neuropathy, Congenital Hypomyelinating, 3	Hypoplasia of the corpus callosum, Babinski sign, Cachexia, Spasticity, Facial diplegia, Microcep...	OMIM:618186
De Sanctis-Cacchione Syndrome	Optic atrophy, Babinski sign, Hypertonia, Cerebral atrophy, Global brain atrophy, Scissor gait, A...	OMIM:278800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral atrophy, Peripheral hypomyelination, Decreased nerve conduction velocity, Aganglionic me...	OMIM:609136
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Decreased liver function, Decreased nerve conduction velocity, Hyperornithinemia, A...	OMIM:238970
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Parkinsonism-Dystonia 3, Childhood-Onset	Hypertonia, Hyperkinetic movements, Global brain atrophy, Chorea, Tremor, Cerebellar atrophy, Act...	OMIM:619738
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria	OMIM:619405
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Farber Disease	Short finger, Elevated circulating hepatic transaminase concentration, Anemia, Abnormal circulati...	ORPHA:333
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Coasy Protein-Associated Neurodegeneration	Oromandibular dystonia, Difficulty walking, Peripheral axonal neuropathy, Parkinsonism, Spastic p...	ORPHA:397725
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Rig...	ORPHA:240085
Adrenoleukodystrophy	Limb ataxia, Impaired vibration sensation at ankles, Truncal ataxia, Incoordination, Elevated cir...	OMIM:300100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Generalized bone deminerali...	OMIM:600785
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Dystonia, Parkinsonism	ORPHA:306669
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Primary Lateral Sclerosis	Spastic gait, Babinski sign, Spastic dysarthria, Spasticity, Atrophy of the spinal cord, Upper mo...	ORPHA:35689
Lethal Congenital Contracture Syndrome 7	Cerebral atrophy, Polyhydramnios, Facial diplegia, Cerebellar atrophy, Paralysis	OMIM:616286
Autosomal Recessive Centronuclear Myopathy	Progressive muscle weakness, Gowers sign, Facial diplegia, Facial palsy, Ophthalmoplegia, Ophthal...	ORPHA:169186
Wild Type Attr Amyloidosis	Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v...	ORPHA:330001
Multiple Sulfatase Deficiency	Cerebral atrophy, Spasticity, Cerebellar atrophy, CNS demyelination, Ataxia, Peripheral demyelina...	OMIM:272200
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Chorea, Spasticity, Tremor, Blepharospasm, Laryngeal...	OMIM:606159
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Parkinsonism With Polyneuropathy	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:619279
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Limb myoclonus, Waddling gait, F...	ORPHA:2590
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Abnormal natural kille...	ORPHA:79124
Machado-Joseph Disease	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula...	OMIM:109150
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Progressive cerebellar ataxia, Tremor, Cerebellar atrophy, Dystonia, Myoclonus, Abnormal pyramida...	ORPHA:139485
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Head tremor, Dystonia, Myoclonus, Impaired tandem gait, Hand tremor	OMIM:619724
East Syndrome	Renal salt wasting, Peripheral hypomyelination, Difficulty walking, Inability to walk, Peripheral...	ORPHA:199343
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia	OMIM:618683
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Progressive muscle weakness, Pancytopenia, Right hemiplegia, Tremor, Ataxia, Myoclonus	OMIM:607426
Tangier Disease	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Impaired temperatur...	OMIM:205400
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
X-Linked Adrenoleukodystrophy	Paralysis, Abnormality of adrenal physiology, Incoordination, Gait disturbance, Paraparesis, Hemi...	ORPHA:43
Variegate Porphyria	Paralysis	OMIM:176200
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibr...	OMIM:222765
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Spinocerebellar Ataxia 34	Limb ataxia, Fasciculations, Peripheral axonal neuropathy, Spasticity, Dysdiadochokinesis, Cerebe...	OMIM:133190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Pelizaeus-Merzbacher Disease	Optic atrophy, Cachexia, Spasticity, Microcephaly, Cerebral cortical atrophy, Short stature, Dyst...	ORPHA:702
Combined Saposin Deficiency	Optic atrophy, Babinski sign, Hyperkinetic movements, Fasciculations, CNS demyelination, Splenome...	OMIM:611721
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis...	ORPHA:98757
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa...	OMIM:218000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglycinemia, Anemia, Hyperglutamatemia, Spastic tetraparesis, Cerebral palsy, Hyperalaninemia...	OMIM:620358
Caribbean Parkinsonism	Bradykinesia, Orthostatic hypotension, Apraxia, Abnormal autonomic nervous system physiology, Act...	ORPHA:97355
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Hypertonia	ORPHA:1389
Paroxysmal Non-Kinesigenic Dyskinesia	Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, Chorea, Involuntary movements, Joint ...	ORPHA:98810
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Truncal ataxia, Intention tremor, Bradycardia	OMIM:614407
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Ga...	ORPHA:529665
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Abnormality of extrap...	OMIM:614298
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Myasthenic Syndrome, Congenital, 16	Periodic paralysis, Gait disturbance	OMIM:614198
Mitochondrial Neurogastrointestinal Encephalomyopathy	Anemia, Cachexia, Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Abnormal cer...	ORPHA:298
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Polymicrogyria, Partial agenesis of the corpus callosum, Dyspl...	OMIM:604213
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Ataxia, Neurodegeneration	OMIM:610951
Hyperostosis Corticalis Generalisata	Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Facial palsy...	ORPHA:3416
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Cerebral hypomyelination, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebella...	OMIM:614381
Dystonia 9	Episodic ataxia, Spastic paraplegia, Dystonia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia	OMIM:601042
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Gliosis	OMIM:613002
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Amyotrophy, Hereditary Neuralgic	Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Babinski sign, Optic atrophy, Cerebral atrophy, Lower limb spasticity, Fasciculati...	OMIM:615491
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Fasciculations, Cerebellar atrophy, Abnormal myelination, Abnormal motor nerve conduction velocit...	ORPHA:466768
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Difficulty walking, Progressive extrapyramidal muscular rigidity, Chorea, Resting ...	ORPHA:401768
Cerebrooculofacioskeletal Syndrome 1	Gliosis, Microcephaly, Failure to thrive, Delayed myelination, Diffuse cerebral atrophy, CNS demy...	OMIM:214150
Parkinson-Dementia Syndrome	Abnormal pyramidal sign, Rigidity, Tremor, Parkinsonism	OMIM:260540
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Spinocerebellar Ataxia Type 36	Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at...	ORPHA:276198
Charcot-Marie-Tooth Disease Type 1F	Urinary incontinence, Fasciculations, Optic nerve hypoplasia, Positive Romberg sign, Gait ataxia,...	ORPHA:101085
Hypermanganesemia With Dystonia 2	Bradykinesia, Babinski sign, Tip-toe gait, Oromandibular dystonia, Generalized dystonia, Scissor ...	OMIM:617013
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Developmental And Epileptic Encephalopathy 69	Hyperkinetic movements, Inability to walk, Congenital contracture, Dystonia, Myoclonus, Spastic t...	OMIM:618285
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Difficulty walking, Lower limb spasticity, Spasticity, Waddling gait, Obesity, Dystonia, Ataxia, ...	ORPHA:464282
4H Leukodystrophy	Optic atrophy, Cerebral hypomyelination, Abnormality of extrapyramidal motor function, Dysdiadoch...	ORPHA:289494
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Difficulty walking, Decreased nerve c...	ORPHA:206443
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Difficulty walking, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Femor...	OMIM:600081
X-Linked Intellectual Disability, Hedera Type	Babinski sign, Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Cerebellar atrophy, ...	ORPHA:93952
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Writer's cramp, Inability to walk...	OMIM:128100
Coenzyme Q10 Deficiency, Primary, 5	Hypertonia, Bradycardia	OMIM:614654
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cerebral atrophy, Hypoplasia of the corpus callosum, Hypertonia, Cachexia, Spasticity, Microcepha...	OMIM:616801
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G...	OMIM:618877
Dk1-Cdg	Failure to thrive, Progressive muscle weakness	ORPHA:91131
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Positive Romberg sign, Cerebellar atrophy, Ataxia, Myoclonus, Babinski sign, Basal ganglia gliosi...	OMIM:301310
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, Shuffling gait, ...	ORPHA:352649
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Adducted Thumbs Syndrome	Microcephaly, Cerebral dysmyelination, Myelin-dependent gliosis	OMIM:201550
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Progressive muscle weakness	OMIM:619518
Machado-Joseph Disease Type 3	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276244
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Progressive spastic paraparesis, Falls, Cerebellar vermis atrophy, Atrophy of the ...	ORPHA:329308
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple...	OMIM:618963
Pulmonary Blastoma	Weight loss	ORPHA:64741
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tip-toe gait, Babinski sign, Abnormal astrocyte morphology, Reduced bone mineral density, Tremor,...	ORPHA:83629
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Tremor, Spastic tetraparesis, Broad-based gait	OMIM:619470
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Progressive muscle weakness	OMIM:151800
Arachnoid Cyst	Distal sensory impairment, Inability to walk, Encephalocele, Abnormality of the endocrine system,...	ORPHA:2356
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Difficulty walking, Fibular bowing, Delayed epiphyseal ossific...	OMIM:241530
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi...	ORPHA:79106
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Babinski sign, Difficulty walking, Broad-based gait, Tremor, Spastic paraplegia	ORPHA:477673
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri...	OMIM:212138
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Hypochromic microcytic anemia, Gliosis, Growth delay, Head titubation, Diffuse cerebral atrophy, ...	ORPHA:3240
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Tremor	OMIM:190310
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Gait ataxia, Decreased amplitude of sensory action potential...	ORPHA:90103
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Spinocerebellar Ataxia Type 19/22	Limb ataxia, Difficulty walking, Impaired vibration sensation at ankles, Broad-based gait, Trunca...	ORPHA:98772
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cachexia, Atax...	ORPHA:42
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Difficulty walking, Sinus bradycardia, Loss of ambulation, Syncope, Palpitations, Second degree a...	OMIM:616812
X-Linked Creatine Transporter Deficiency	Hypertonia, Cachexia, Chorea, Athetosis, Dystonia, Ataxia	ORPHA:52503
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma...	ORPHA:500166
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor,...	OMIM:601650
Huntington Disease	Bradykinesia, Babinski sign, Difficulty walking, Decreased body mass index, Inability to walk, Ga...	ORPHA:399
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Impaired distal vibration sensation, Decreased number of peripheral myelinated nerve fibers, Impa...	OMIM:607080
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal lower motor neuron morphology, Abnormality of the spleen	ORPHA:93941
Charcot-Marie-Tooth Disease And Deafness	Steppage gait, Tremor, Gait disturbance, Decreased motor nerve conduction velocity, Axonal loss	OMIM:118300
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Splenomegaly, Acute myelomonocytic leukemia...	ORPHA:2585
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Rigidity, Dystonia, Mus...	ORPHA:70594
Glut1 Deficiency Syndrome 2	Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal long bone morphology, Fasciculations, Sensory axonal neuropathy, Calvarial hyperostosis,...	ORPHA:52430
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Rigidity, Dystonia...	OMIM:615530
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity	OMIM:617404
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Bethlem Myopathy 2	Scoliosis, Kyphosis	OMIM:616471
Spinocerebellar Ataxia Type 18	Peripheral axonal neuropathy, Cerebellar atrophy, Titubation, Head tremor, Gait ataxia, Dysmetria	ORPHA:98771
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Difficult...	OMIM:264700
Griscelli Syndrome, Type 2	Spasticity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Tay-Sachs Disease	Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Limited knee extension,...	ORPHA:845
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, O...	ORPHA:370022
Facial Onset Sensory And Motor Neuronopathy	Fasciculations, Paresthesia	ORPHA:85162
Hypokalemic Periodic Paralysis	Paralysis, Periodic hypokalemic paresis, Respiratory paralysis	ORPHA:681
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Progressive muscle weakness, Facial palsy, Progressive external ophthalmoplegia, Limb muscle weak...	OMIM:610131
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Cerebellar cortical atrophy, Resting t...	ORPHA:247234
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fasciculations, Tremor, Shuffling gait, Waddling gait, Loss of ambulation	ORPHA:209335
Spinocerebellar Ataxia 2	Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc...	OMIM:183090
Angioedema, Hereditary, 1	Axonal degeneration, Peripheral axonal neuropathy, Angioedema, Intestinal edema, Pharyngeal edema...	OMIM:106100
Pelizaeus-Merzbacher Disease, Classic Form	Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ...	ORPHA:280219
Infantile Krabbe Disease	Poor head control, Neck muscle weakness, Lower limb spasticity, Ankle clonus, Cachexia, Decerebra...	ORPHA:206436
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Resting tremor, Chorea, Cogwheel rigidity, Intention tremor, Dystonia, Ataxia, Park...	OMIM:619725
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Neuronal loss in basal ganglia, Bradykinesia, Axial dystonia, Retrocollis, Astr...	OMIM:601104
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal seventh cranial physiology, Limb fasciculations, Distal sensory impairment, Inability to...	ORPHA:90117
Spinocerebellar Ataxia 6	Abnormal vestibulo-ocular reflex, Progressive cerebellar ataxia, Incoordination, Truncal ataxia, ...	OMIM:183086
Vitamin D-Dependent Rickets, Type 2A	Rickets, Subperiosteal bone resorption, Elevated circulating parathyroid hormone level, Difficult...	OMIM:277440
Parkinson Disease, Late-Onset	Bradykinesia, Short stepped shuffling gait, Resting tremor, Neuronal loss in central nervous syst...	OMIM:168600
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Hypertonia, Gliosis, Tetraplegia, Cerebral edema, Spastic tetraplegia	OMIM:608033
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign	OMIM:608768
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Elevated alkaline phosphatase of bone origin, Abnormal fe...	ORPHA:73
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Cerebellar atrophy, Ataxia, Myoclonus, Abnormal pyramidal sign	OMIM:612016
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Chronic axonal neuropathy, Distal sensory impairment, Foot osteomyelitis, Tongue fasciculations, ...	OMIM:162400
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi...	ORPHA:96
Ataxia-Telangiectasia-Like Disorder 1	Oculomotor apraxia, Lower limb spasticity, Chorea, Dysdiadochokinesis, Frequent falls, Gait ataxi...	OMIM:604391
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Winchester Syndrome	Kyphosis	OMIM:277950
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Developmental And Epileptic Encephalopathy 37	Hyperkinetic movements, Chorea, Spasticity, Cerebellar atrophy, Gait disturbance, Cogwheel rigidi...	OMIM:616981
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my...	OMIM:607831
Phenylketonuria	Osteopenia, Lower limb spasticity, Hyperphenylalaninemia, Tremor, Ataxia	ORPHA:716
Metaphyseal Dysplasia, Braun-Tinschert Type	Elevated alkaline phosphatase of bone origin, Exostoses of the ulna, Tibial bowing, Wide proximal...	ORPHA:85188
Peho Syndrome	Optic atrophy, Neuronal loss in central nervous system, Cerebellar atrophy, Peripheral dysmyelina...	OMIM:260565
Microphthalmia-Brain Atrophy Syndrome	Cerebellar vermis atrophy, Spasticity, Atrophy/Degeneration affecting the brainstem, Corpus callo...	ORPHA:77299
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cerebral calcification, Cachexia, Microcephaly, Short stature, Ataxia	ORPHA:1933
Perry Syndrome	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss	ORPHA:178509
Spinocerebellar Ataxia With Epilepsy	Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Myoclonus, Dysm...	ORPHA:254881
Wolman Disease	Cachexia, Bone-marrow foam cells, Anemia, Splenomegaly	ORPHA:75233
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly	OMIM:608898
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Progressive proximal muscle weakness, Chorea, Hyperkinetic movements, Truncal ataxia	ORPHA:369847
Combined Oxidative Phosphorylation Deficiency 10	Spasticity, Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Primary Non-Essential Cutis Verticis Gyrata	Microcephaly, Periventricular leukomalacia, Gliosis	ORPHA:357225
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Scoliosis, Hyperlordosis, Kyphosis	OMIM:600175
Aicardi-Goutieres Syndrome 6	Cerebral calcification, Tremor, Microcephaly, Rigidity, Dystonia, Thrombocytopenia, Splenomegaly,...	OMIM:615010
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9	Hoffmann sign, Babinski sign, Difficulty walking, Fasciculations	OMIM:620402
Leukoencephalopathy, Progressive, With Ovarian Failure	Babinski sign, Apraxia, Spasticity, Cerebellar atrophy, Dystonia, Ataxia, Hand tremor, Neurodegen...	OMIM:615889
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Cardiomyopathy, Ataxia, Arrhythmia	ORPHA:3222
Spinocerebellar Ataxia 21	Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio...	OMIM:607454
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276241
Leigh Syndrome	Chorea, Ataxia, Intrauterine growth retardation, Leukodystrophy, Neutropenia, Optic atrophy, Diff...	ORPHA:506
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Babinski sign, Foot osteomyelitis, Sensory axonal neuropathy, Spasticity, Impaired pain sensation...	ORPHA:139578
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa...	OMIM:137440
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Lissencephaly, X-Linked, 2	Gliosis, Spasticity, Pachygyria, Agenesis of corpus callosum, Lissencephaly	OMIM:300215
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Glutathionuria	Reduced tissue gamma-glutamyltransferase activity, Reduced gamma-glutamyltransferase level, Dysdi...	OMIM:231950
Spinocerebellar Ataxia, Autosomal Recessive 11	Limb ataxia, Truncal ataxia, Ataxia, Gait disturbance	OMIM:614229
X-Linked Charcot-Marie-Tooth Disease Type 2	Babinski sign, Steppage gait, Gait disturbance, Optic neuropathy, Decreased motor nerve conductio...	ORPHA:101076
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Cerebral atrophy, Glomerulopathy, Hydrops fetalis, Hemolytic-uremic syndrome, Stom...	ORPHA:79282
Osteosarcoma	Abnormal metaphysis morphology, Increased circulating lactate dehydrogenase concentration, Abnorm...	ORPHA:668
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Polymicrogyria, Spasticity, Optic nerve hypoplasia, Decreased body we...	OMIM:614833
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Elevated circulating hepatic transaminase concentration, Oculomotor...	ORPHA:404454
Baker-Gordon Syndrome	Hyperkinetic movements, Inability to walk, Athetoid cerebral palsy, Involuntary movements, Dyston...	OMIM:618218
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcification, Dystonia, Ataxia,...	ORPHA:542310
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Combined Oxidative Phosphorylation Deficiency 24	Hypoplasia of the corpus callosum, Optic atrophy, Gliosis, Spasticity, Microcephaly, Agenesis of ...	OMIM:616239
Bethlem Muscular Dystrophy	Neck muscle weakness, Gowers sign, Progressive proximal muscle weakness, Distal muscle weakness, ...	ORPHA:610
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor...	OMIM:261640
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma...	ORPHA:3344
Mannosidosis, Alpha B, Lysosomal	Limb ataxia, Babinski sign, Vacuolated lymphocytes, Gliosis, Spasticity, Corpus callosum atrophy,...	OMIM:248500
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Cerebral atrophy, Tremor, Dystonia, Ataxia, Cerebellar hypoplasia, Choreoathetosis	OMIM:619422
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Difficulty walking, Inability to walk, Hammertoe, Impaired pain sensation, Tongue ...	ORPHA:99949
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Hypertonia, Inability to walk, Tremor, Ataxia, Delayed CNS myelination, Cerebellar hypoplasia	OMIM:619556
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Limb ataxia, Progressive cerebellar ataxia, Ankle clonus, Fasciculations, Truncal ataxia, Abnorma...	ORPHA:284289
Primary Myelofibrosis	Anemia, Thrombocytosis, Pancytopenia, Cachexia, Leukocytosis, Poikilocytosis, Hepatosplenomegaly,...	ORPHA:824
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Difficulty walking, Limb hypertonia, Brain atrophy, Spasticity, ...	ORPHA:442835
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Fasciculations, Decreased motor nerve conduction velocity, Difficulty walking	OMIM:615575
Microtriplication 11Q24.1	Hyperkinetic movements, Clinodactyly of the 5th finger, Genu valgum, Limitation of joint mobility...	ORPHA:289522
Parkinson Disease 14, Autosomal Recessive	Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting tremor, Ankle clonus...	OMIM:612953
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Resting tremor, Gliosis, Parkinsonism with favorable response to dopaminergic medic...	ORPHA:411602
Leukoencephalopathy With Ataxia	Limb ataxia, Action tremor, Gait ataxia	OMIM:615651
Rett Syndrome	Secondary microcephaly, Cachexia, Truncal ataxia, Spasticity, Gait apraxia, Gait ataxia, Cerebral...	OMIM:312750
Timothy Syndrome	Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent...	OMIM:601005
Congenital Fiber-Type Disproportion Myopathy	Poor head control, Pelvic girdle muscle weakness, Progressive muscle weakness, Generalized muscle...	ORPHA:2020
Peroxisome Biogenesis Disorder 5B	Oculomotor apraxia, Tremor, Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria	OMIM:614867
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination	ORPHA:101082
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Peripheral hypomyelination, Chronic axonal neuropathy, Hypocalciuri...	OMIM:612780
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Cerebral atrophy, Hypertonia, Limb hypertonia, Tremor, Cerebellar atrophy, Athetos...	OMIM:617710
O'Sullivan-Mcleod Syndrome	Fasciculations, Tremor, Upper limb muscle weakness, Cold paresis, Eosinophilia	ORPHA:99965
Flynn-Aird Syndrome	Cerebral cortical atrophy, Cerebral calcification, Cachexia, Ataxia	ORPHA:2047
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Abnormal brainstem morphology, Abnormality of extrapyramidal motor function, Spast...	ORPHA:79279
Myopathy With Extrapyramidal Signs	Hypervalinemia, Elevated circulating hepatic transaminase concentration, Chorea, Ataxia, Splenome...	OMIM:615673
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Mcdonough Syndrome	Short stature, Cachexia	ORPHA:2471
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Atrophy/Degeneration affecting the brainstem, Abnormal autonomic nervous system phy...	ORPHA:99027
Spinocerebellar Ataxia 1	Fasciculations, Chorea, Impaired vibratory sensation, Optic atrophy, Babinski sign, Impaired prop...	OMIM:164400
Waisman Syndrome	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Sh...	OMIM:311510
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Bilateral Perisylvian Polymicrogyria	Limb hypertonia, Oromotor apraxia, Cerebellar vermis hypoplasia, Lower limb spasticity, Spasticit...	ORPHA:98889
Mucolipidosis Iv	Dysplastic corpus callosum, Babinski sign, Optic atrophy, Cerebral dysmyelination, Microcephaly, ...	OMIM:252650
Combined Oxidative Phosphorylation Deficiency 14	Cerebral atrophy, Anemia, Gliosis, Basal ganglia gliosis, Microcephaly, Cerebral cortical atrophy...	OMIM:614946
Cockayne Syndrome Type 3	Difficulty walking, Elevated circulating hepatic transaminase concentration, Demyelinating periph...	ORPHA:90324
Lissencephaly Due To Tuba1A Mutation	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hypoplastic anteri...	ORPHA:171680
Developmental And Epileptic Encephalopathy 42	Hypertonia, Tremor, Ataxia, Athetosis	OMIM:617106
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Femoral bowing, Tibial bowing, Splenomegaly, Hypoph...	ORPHA:289157
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Sea-blue histiocytosis, Gait disturbance, Joint stiffness, Thin bony cortex, Failu...	OMIM:230600
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Neurodegeneration With Brain Iron Accumulation 2A	Cerebral atrophy, Optic atrophy, Gliosis, Abnormal pyramidal tract morphology, Ataxia, Abnormal p...	OMIM:256600
Rhizomelic Chondrodysplasia Punctata, Type 3	Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts, Rhizomelia, Ep...	OMIM:600121
Fragile X Tremor/Ataxia Syndrome	Bradykinesia, Resting tremor, Poor fine motor coordination, Dysdiadochokinesis, Impaired distal v...	OMIM:300623
Weismann-Netter Syndrome	Scoliosis, Horizontal sacrum, Kyphosis	OMIM:112350
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Ab...	OMIM:618060
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Elevated circulating hepatic transaminase concentration, Cerebral palsy, Head ti...	OMIM:619475
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab...	ORPHA:970
Neuronal Intranuclear Inclusion Disease	Tremor, Gait disturbance, Rigidity, Ataxia, Somatic sensory dysfunction	OMIM:603472
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Edema, Hypoa...	OMIM:600995
Valinemia	Hypervalinemia, Failure to thrive, Hyperkinetic movements	OMIM:277100
Mohr-Tranebjaerg Syndrome	Optic atrophy, Babinski sign, Global brain atrophy, Oromandibular dystonia, Generalized dystonia,...	ORPHA:52368
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Inability to walk, Astrocytosis, Decreased body weight, Facial palsy, Fl...	ORPHA:258
Gaucher Disease, Type Iii	Pancytopenia, Decreased body weight, Decreased beta-glucocerebrosidase level, Ataxia, Splenomegal...	OMIM:231000
Multiple System Atrophy	Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait...	ORPHA:102
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Tremor, Intention tremor, Hemiparesis, Ataxia	OMIM:614307
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor, Weight loss	OMIM:613239
Hypermanganesemia With Dystonia 1	Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi...	OMIM:613280
Trigeminal Neuralgia	CNS demyelination, Peripheral demyelination, Cranial nerve compression	ORPHA:221091
Spinocerebellar Ataxia Type 42	Spastic gait, Babinski sign, Resting tremor, Atrophy/Degeneration affecting the brainstem, Cerebe...	ORPHA:458803
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Ankle flexion contracture, Pontocerebellar atrophy, Elevated circulating hepatic t...	OMIM:608799
Neuropathy, Hereditary Sensory, Type Ie	Cerebral atrophy, Ataxia, Decreased number of peripheral myelinated nerve fibers, Osteomyelitis	OMIM:614116
Neurofibromatosis, Familial Spinal	Spinal neurofibroma, Symmetric spinal nerve root neurofibromas, Paraparesis, Plexiform neurofibro...	OMIM:162210
Classic Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Inability to walk, Spasticity, Gait disturbance, Frequent falls, Opisthotonus, Weig...	ORPHA:216866
Acute Transverse Myelitis	Babinski sign, Impaired proprioception, Orthostatic hypotension, Decreased circulating copper con...	ORPHA:139417
Gm1 Gangliosidosis	Decerebrate rigidity, Joint stiffness, Ataxia, Splenomegaly, Abnormal epiphysis morphology, Optic...	ORPHA:354
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Periventricular white matter hyperintensities, Hypertonia, Dysplastic cor...	OMIM:619737
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hypoplasia of the corpus callosum, Severe failure to thrive, Cachexia, Microcephaly, Short statur...	ORPHA:371364
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic gait, Babinski sign, Bradykinesia, Male hypogonadism, Apraxia, Resting tremor, Tremor, Sh...	OMIM:300055
Poliomyelitis	Stiff neck, Hyperkinetic movements, Inability to walk, Fasciculations, Paraparesis, Abnormal moto...	ORPHA:2912
Renpenning Syndrome	Microcephaly, Cachexia, Severe short stature, Growth delay	ORPHA:3242
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid...	ORPHA:240071
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephropathy, Cerebellar atrophy, Focal segmental glomerulosclerosis, Gait ataxia,...	OMIM:254900
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia	OMIM:300619
Pontocerebellar Hypoplasia, Type 1D	Fasciculations, Tongue fasciculations, Spasticity, Cerebellar atrophy, Failure to thrive, Flexion...	OMIM:618065
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypertonia, Bradycardia, Tetraplegia, Pulmonary arterial hypertension, Opisthotonus	OMIM:619272
Neuroferritinopathy	Bradykinesia, Babinski sign, Caudate atrophy, Difficulty walking, Writer's cramp, Leg dystonia, R...	ORPHA:157846
Amyotrophic Lateral Sclerosis 28	Chaddock reflex, Babinski sign, Difficulty walking, Fasciculations	OMIM:620452
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Splenomegaly...	ORPHA:2204
Foxg1 Syndrome	Hyperkinetic movements, Difficulty walking, Inability to walk, Spasticity, Decreased body weight,...	ORPHA:561854
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertonia, Tremor, Gait disturbance, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebe...	ORPHA:1192
Illum Syndrome	Bradycardia	OMIM:208155
Toxin-Mediated Infectious Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:230800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Pontocerebellar atrophy, Chronic axonal neuropathy, Oculomotor apraxia, Chorea, Peri...	OMIM:606002
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Spastic gait, Demyelinating peripheral neuropathy, Basal lamina onion bulb formation, Progressive...	ORPHA:2821
Combined Oxidative Phosphorylation Defect Type 39	Tip-toe gait, Babinski sign, Limb hypertonia, Bradycardia, Lower limb spasticity, Involuntary mov...	ORPHA:565624
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Generalized dystonia, Pancytopenia, Chorea, Gliosis, Gait ataxia, Dystonia, Cer...	OMIM:618321
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Neuromyotonia, Distal sensory impairment, Fasciculations, Sensory axonal neuropathy, Elevated cir...	OMIM:137200
Osteogenesis Imperfecta, Type Xxii	Abnormal blood phosphate concentration, Reduced bone mineral density, Slender long bone, Bowing o...	OMIM:619795
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Elevated circulating carcinoembryonic antigen concentration, ...	ORPHA:100083
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Delayed puberty, Deviation of the 5th toe, Severe demyelination of the white matter, Slender toe,...	ORPHA:391408
Autosomal Dominant Spastic Paraplegia Type 42	Spastic gait, Babinski sign, Lower limb spasticity, Clonus, Lower limb hypertonia, Spinal cord le...	ORPHA:171863
Ck Syndrome	Joint hypermobility, Slender build, Abnormal cortical bone morphology, Abnormal digit morphology	OMIM:300831
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Abnormal macrophage morphology, Gowers sign, Upper limb muscle weakness, Frequent falls, Neck fle...	ORPHA:353
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Tongue fasciculations, Exaggerated startle response, Bradycardia	OMIM:608800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Anemia, Progressive muscle weakness, Increased body weight, Limb-girdle muscle weakness, Splenome...	ORPHA:79240
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Succinic Semialdehyde Dehydrogenase Deficiency	Decreased tissue succinic semialdehyde dehydrogenase activity, Hyperkinetic movements, Elevated c...	OMIM:271980
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Kyphosis	ORPHA:3454
Atypical Rett Syndrome	Pill-rolling tremor, Inability to walk, Apraxia, Spasticity, Tremor, Gait disturbance, Gait ataxi...	ORPHA:3095
Masa Syndrome	Hyperlordosis, Kyphosis	OMIM:303350
Hip Dysplasia, Beukes Type	Scoliosis, Kyphosis	ORPHA:2114
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Decreased methionine synthase activity, Hypertonia, Hyperkinetic movements, Normocytic anemia, Me...	OMIM:236270
Isolated Succinate-Coq Reductase Deficiency	Babinski sign, Spasticity, Spastic tetraparesis, Frequent falls, Lower limb hypertonia, Loss of a...	ORPHA:3208
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis	ORPHA:2786
Oculodentodigital Dysplasia	Vertebral hyperostosis, Joint contracture of the 5th finger, Spasticity, 4-5 finger syndactyly, S...	OMIM:164200
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Secondary microcephaly, Hypoplasia of the corpus callosum, Optic atrophy, Lower limb spasticity, ...	OMIM:617193
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Thin corpus callosum, Abnormal CNS myelination, Cerebral calcification, Spastic tetraparesis, Cor...	OMIM:620371
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Patellar hypoplasia, Acromesomelia, Flexion contracture of digit, Hyperextensibility of the finge...	ORPHA:3041
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Hy...	ORPHA:249
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Inability to walk, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Choreoathetosis	OMIM:617664
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Spasticity, Athetosis, Bone-marrow foam cells, Failure to thrive, Rigidit...	OMIM:257200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Scoliosis, Lumbar hyperlordosis, Kyphosis	OMIM:616756
Ataxia-Telangiectasia-Like Disorder 2	Ataxia, Muscle weakness, Progressive muscle weakness	OMIM:615919
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Weight loss	ORPHA:141152
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Metaphyseal widening, Metaphy...	OMIM:265900
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Hyperkinetic movements, Inability to walk, Oculogyric crisis, Chorea, Spasticity, Cerebellar atro...	OMIM:614254
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Hypertonia, Gliosis, Spasticity, Rigidity, Cerebral edema, Spastic t...	ORPHA:88619
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Blepharospasm, Ataxia, Myoclonus	OMIM:607876
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Resting tremor, Gliosis, Lewy bodies, Rigidity, Dystonia, Parkinsonism, Myoclonus	OMIM:168601
Multiple System Atrophy, Cerebellar Type	Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Broad-based gait, Resting tremor, Axial...	ORPHA:227510
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Bulbar palsy, Tremor, Limb muscle weakness	OMIM:313200
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
Primary Progressive Freezing Gait	Bradykinesia, Babinski sign, Difficulty walking, Gait imbalance, Shuffling gait, Frequent falls, ...	ORPHA:75567
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Spastic Tetraplegia And Axial Hypotonia, Progressive	Babinski sign, Hypertonia, Lower limb spasticity, Fasciculations, Spastic tetraparesis, Cerebella...	OMIM:618598
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Pathologic fracture, Elevated circulating alkaline phosphat...	OMIM:174810
Glossopharyngeal Neuralgia	Bradycardia, Dysesthesia, Vocal cord paralysis, Jaw claudication, Syncope	ORPHA:221098
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hypertonia, Abnormality of Krebs cycle metabolism, Chorea, Spasticity, Demyelinati...	ORPHA:255210
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Proximal muscle weakness, Progressive proximal muscle weakness, Distal upper limb muscle weakness...	OMIM:620138
Neurogenic Arthrogryposis Multiplex Congenita	Rocker bottom foot, Ankle flexion contracture, Fasciculations, Elbow flexion contracture, Wrist f...	ORPHA:1143
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Lower limb spasticity,...	ORPHA:320375
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Hypertonia, Tremor, Spasticity, Rigidity	OMIM:176500
Cystathioninuria	Tremor	ORPHA:212
Focal Segmental Glomerulosclerosis 1	Pleural effusion, Ascites, Focal segmental glomerulosclerosis, Hyperlipidemia, Hyperechogenic kid...	OMIM:603278
Leukodystrophy, Hypomyelinating, 3	Global brain atrophy, Sudanophilic leukodystrophy, Appendicular spasticity, Corpus callosum atrop...	OMIM:260600
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Majeed Syndrome	Hypochromic microcytic anemia, Cachexia, Leukocytosis, Failure to thrive, Splenomegaly, Weight lo...	ORPHA:77297
Pick Disease Of Brain	Gliosis	OMIM:172700
Focal Myositis	Weight loss, Muscle weakness	ORPHA:48918
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Babinski sign, Gait imbalance, Oculomotor apraxia, Cerebellar vermis atrophy, Elevated circulatin...	ORPHA:64753
Pelizaeus-Merzbacher Disease In Female Carriers	Babinski sign, Difficulty walking, Inability to walk, Lower limb spasticity, Gait disturbance, Ha...	ORPHA:280229
Autosomal Dominant Spastic Paraplegia Type 8	Spastic gait, Babinski sign, Limb ataxia, Lower limb spasticity, Spinal cord lesion, Clonus, Uppe...	ORPHA:100989
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Anemia, Progressive muscle weakness, Increased body weight, Abnormal erythrocyte enzyme concentra...	ORPHA:264580
Ataxia-Telangiectasia	Delayed puberty, Elevated circulating hepatic transaminase concentration, Spasticity, Tremor, Dec...	ORPHA:100
Neurodevelopmental Disorder With Involuntary Movements	Hyperkinetic movements, Chorea, Spasticity, Athetosis, Cerebellar atrophy, Involuntary movements,...	OMIM:617493
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Spongiform Encephalopathy With Neuropsychiatric Features	Parkinsonism, Gliosis, Neurofibrillary tangles, Cerebral cortex with spongiform changes	OMIM:606688
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebral atrophy, Neuronal loss in basal ganglia, Gliosis, Limb dystonia, Basal ganglia gliosis, ...	OMIM:604377
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, Parkinsonism	ORPHA:3077
Familial Cervical Artery Dissection	Paralysis, Paresthesia	ORPHA:36382
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Ataxia	ORPHA:3350
Idiopathic Achalasia	Weight loss	ORPHA:930
Multiple System Atrophy, Parkinsonian Type	Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Frequent falls, Gait...	ORPHA:98933
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Cachexia, Ataxia, Splenomegaly, Leukopenia, Hypogonad...	ORPHA:1328
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Urinary incontinence, Tetraplegia, Tremor, Spasticity, Impaired distal vibration s...	OMIM:616586
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Limb fasciculations, Steppage gait, Writer's cramp, Sensory axonal neuropathy, Impaired vibration...	ORPHA:324442
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Osteoporosis, Splenomegaly, Abnormal B cell count, ...	ORPHA:100024
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
D-Glyceric Aciduria	Bradycardia, Appendicular spasticity, Spasticity, Opisthotonus, Myoclonus, Spastic tetraplegia	OMIM:220120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Oromandibular Dystonia	Hyperkinetic movements, Torticollis, Lingual dystonia, Blepharospasm, Limb dystonia, Weight loss,...	ORPHA:93958
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Paroxysmal dyskinesia, Babinski sign, Optic atrophy, Chorea, Spasticity, Athetosis, Blepharospasm...	OMIM:617282
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Saccharopinuria	Tremor, Distal sensory impairment, Spastic diplegia, Gait ataxia	ORPHA:3124
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Desmoplastic Small Round Cell Tumor	Cachexia, Anemia, Weight loss	ORPHA:83469
Parkinson Disease 8, Autosomal Dominant	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607060
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Ataxia, Splenomegaly, Weight loss, Osteolysis	ORPHA:391
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, Platyspondyly,...	OMIM:184100
Barth Syndrome	Hypochromic microcytic anemia, Gait disturbance, Abnormal mitochondrial morphology, Failure to th...	OMIM:302060
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Cockayne Syndrome B	Optic atrophy, Normal pressure hydrocephalus, Square pelvis bone, Severe failure to thrive, Decre...	OMIM:133540
Developmental And Epileptic Encephalopathy 4	Cerebral atrophy, Tremor, Spastic paraplegia, Delayed CNS myelination, Spastic tetraplegia, Chore...	OMIM:612164
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Progressive Supranuclear Palsy	Bradykinesia, Gliosis, Tremor, Blepharospasm, Cerebral cortical atrophy, Rigidity, Dystonia	ORPHA:683
Kleefstra Syndrome Due To A Point Mutation	Hypoplasia of the corpus callosum, Large for gestational age, Gliosis, Microcephaly, Failure to t...	ORPHA:261652
Glycogen Storage Disease Iv	Cardiomyopathy, Portal hypertension, Bradycardia	OMIM:232500
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Peripheral axonal neuropathy, Abnorm...	OMIM:105210
Kanzaki Disease	Cerebral atrophy, Increased urinary O-linked sialopeptides, Distal sensory impairment, Axonal deg...	OMIM:609242
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Colpocephaly, Agenesis of cor...	ORPHA:250972
Whipple Disease	Anemia, Cachexia, Ataxia, Splenomegaly, Muscle weakness, Myoclonus, Abnormal pyramidal sign	ORPHA:3452
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Oromotor apraxia, Tremor, Failure to thr...	ORPHA:300536
Hypophosphatemic Rickets, X-Linked Dominant	Femoral bowing, Tibial bowing, Hypophosphatemia, Metaphyseal irregularity, Bowing of the legs, Ri...	OMIM:307800
Severe Neurodegenerative Syndrome With Lipodystrophy	Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Poor motor coordin...	ORPHA:363400
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:1548
Autosomal Recessive Ataxia, Beauce Type	Babinski sign, Chronic axonal neuropathy, Lower limb spasticity, Fasciculations, Sensory axonal n...	ORPHA:88644
Crigler-Najjar Syndrome Type 1	Prolonged neonatal jaundice, Tremor	ORPHA:79234
Migraine, Familial Hemiplegic, 2	Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysme...	OMIM:602481
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Thin corpus callosum, Appendicular spasticity, Gliosis, Exaggerated startle respon...	OMIM:620451
Immunodeficiency 27A	Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytosis, Histiocytosis	OMIM:209950
Grant Syndrome	Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphology, Decreased skull ossifi...	ORPHA:2097
Sandhoff Disease	Kyphosis	ORPHA:796
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Cerebellar atrophy, Hypoplastic pelvis, Ataxia, Splen...	OMIM:216400
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Developmental And Epileptic Encephalopathy 11	Spastic tetraplegia, Hyperkinetic movements	OMIM:613721
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis	ORPHA:2598
Insulin Autoimmune Syndrome	Increased circulating antibody level, Arthralgia/arthritis, Weight loss, Hyperinsulinemic hypogly...	ORPHA:411593
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Impaired tactile sensation, Tremor, Gait ataxia, Ataxia, Myoclonus	OMIM:619092
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Truncal ataxia, Gliosis, Tremor, Spasticity, CNS demyelination, Hyp...	OMIM:220111
Leishmaniasis	Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Weight loss, Thro...	ORPHA:507
Reticular Dysgenesis	Anemia, Failure to thrive, Leukopenia, Weight loss, Abnormality of neutrophils	ORPHA:33355
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Hyperkinetic movements, Elevated circulating hepatic...	OMIM:615273
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis	OMIM:301900
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Metacarpal osteolysis, Carpal osteolysis, Slender long bone, Cachexia, Limitation of joint mobili...	ORPHA:2774
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Optic atrophy, Cerebral atrophy, Hyperkinetic movements, Spastic...	ORPHA:391428
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Waardenburg Syndrome, Type 4A	Spastic paraparesis, Aganglionic megacolon, Ataxia, Leukodystrophy	OMIM:277580
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Dysplastic corpus callosum, Hypochromic microcytic anemia, Spasticity, Sh...	OMIM:619423
Cronkhite-Canada Syndrome	Cachexia, Anemia, Splenomegaly	ORPHA:2930
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Basal ganglia cysts, Tremor, Episodic ataxia, Microcephaly, Dystonia, Agenesis ...	OMIM:312170
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anemia, Muscle weakness	OMIM:175500
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Babinski sign, Truncal obesity, Truncal ataxia, Gliosis, Spasticity, Microcephaly, Cerebral corti...	OMIM:301072
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Hyperesthesia, Cortical irregularit...	ORPHA:1310
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Hyperkinetic movements, Optic nerve h...	OMIM:617302
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukemi...	ORPHA:98850
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Anemia, Small for gestational age, Intrauterine growth retardation	OMIM:620135
Jaberi-Elahi Syndrome	Optic atrophy, Inability to walk, Appendicular spasticity, Broad-based gait, Dandy-Walker malform...	OMIM:617988
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Babinski sign, Difficulty walking, Lower limb spasticity, Fasciculations, Spasticity, Elevated ci...	OMIM:613954
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Gm2-Gangliosidosis, Ab Variant	Cerebral atrophy, Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystoni...	OMIM:272750
Spinocerebellar Ataxia 27A	Limb ataxia, Abnormal vestibulo-ocular reflex, Gait ataxia, Postural tremor, Impaired vibratory s...	OMIM:193003
Pontocerebellar Hypoplasia Type 2	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign, Abnormal cortical g...	ORPHA:2524
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Oculogastrointestinal Muscular Dystrophy	Cachexia, External ophthalmoplegia	ORPHA:1876
Hereditary Hyperekplexia	Hypertonia, Fasciculations, Spasticity, Gait disturbance, Joint stiffness, Rigidity, Ataxia, Myoc...	ORPHA:3197
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis, Weight loss, Muscle weakness	OMIM:188580
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Hyperkinetic movements, Inability to walk, Dystonia, Myoclonus, Choreoathetosis	OMIM:618497
Rift Valley Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Increased circulating ...	ORPHA:319251
Aicardi-Goutieres Syndrome 9	Optic atrophy, Hypertonia, Elevated circulating hepatic transaminase concentration, Anemia, Spast...	OMIM:619487
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p...	OMIM:146500
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Cachexia	ORPHA:1438
Aredyld Syndrome	Intrauterine growth retardation, Cachexia, Splenomegaly, Short stature	ORPHA:1133
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Cerebellar cyst, Abnormal brainstem morphology, Optic nerve hypoplasia, Clonus, Di...	ORPHA:370959
Spinal Arteriovenous Metameric Syndrome	Paraparesis	ORPHA:53721
Oculodentodigital Dysplasia	Ataxia, Aplasia/Hypoplasia of the cerebellum, Clinodactyly, Optic atrophy, Cranial hyperostosis, ...	ORPHA:2710
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Resting tremor, Spasticity, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Sialidosis Type 2	Hydrops fetalis, Tremor, Ascites, Ataxia, Nephropathy, Pedal edema	ORPHA:87876
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Thoracolumbar scoliosis, Kyphosis	OMIM:313420
Weiss-Kruszka Syndrome	Dysplastic corpus callosum	ORPHA:502430
Tetrasomy 12P	Short stature, Cachexia	ORPHA:884
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Apraxia, Gliosis, Cerebral cortical atrophy, Lewy bodies, Neurofibrillary tangles, Lateral ventri...	OMIM:607485
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Optic atrophy, Demyelinating peripheral neuropathy, Cachexia, Spasticity, Ataxia	ORPHA:220295
Bone Dysplasia, Lethal Holmgren Type	Abnormal thumb morphology, Abnormal femur morphology, Anemia, Abnormal diaphysis morphology, Rhiz...	ORPHA:1842
Aceruloplasminemia	Chorea, Gait ataxia, Aceruloplasminemia, Rigidity, Ataxia, Decreased circulating iron concentrati...	ORPHA:48818
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerated startle ...	OMIM:618056
Xfe Progeroid Syndrome	Optic atrophy, Elevated circulating hepatic transaminase concentration, Cachexia, Failure to thri...	OMIM:610965
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Wilson Disease	Difficulty walking, Elevated circulating hepatic transaminase concentration, Jaundice, Anemia, Ac...	ORPHA:905
Galactose Epimerase Deficiency	Jaundice, Weight loss	ORPHA:79238
Poems Syndrome	Metaphyseal sclerosis, Increased circulating antibody level, Abnormality of the endocrine system,...	ORPHA:2905
Fetal Akinesia Deformation Sequence 4	Short neck, Kyphosis	OMIM:618393
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Celiac Disease, Susceptibility To, 1	Rickets, Delayed puberty, Steatorrhea, Elevated circulating hepatic transaminase concentration, I...	OMIM:212750
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Steppage gait, Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Abnor...	ORPHA:168563
X-Linked Cerebral Adrenoleukodystrophy	Hoffmann sign, Global brain atrophy, Difficulty walking, Inability to walk, Oculomotor apraxia, L...	ORPHA:139396
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Cockayne Syndrome	Delayed puberty, Cerebral dysmyelination, Progressive microcephaly, Cerebral calcification, Cache...	ORPHA:191
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal metaphysis morphology, Anemia, Elevated circulating C-reactive protein concentration, Hy...	ORPHA:324964
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Scoliosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyp...	OMIM:313400
Choreoacanthocytosis	Chorea, Lingual dystonia, Abnormal erythrocyte enzyme concentration or activity, Limb dystonia, A...	ORPHA:2388
Sneddon Syndrome	Chorea, Hemiparesis, Tremor, Muscle weakness	ORPHA:820
Non-Functioning Paraganglioma	Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Cranial nerve compression, Weight l...	ORPHA:94080
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Incoordination, Poor fine motor coordination, Tremor, Ataxia	ORPHA:36387
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Vocal cord paralysis	OMIM:605373
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Optic atrophy, Babinski sign, Cerebral atrophy, Resting tremor, Atrophy/Degeneration affecting th...	ORPHA:314404
Stiff-Person Syndrome	Hypertension, Exaggerated startle response, Myoclonic spasms, Frequent falls, Rigidity, Opisthoto...	OMIM:184850
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Sandal gap, Cerebellar vermis atrophy, Tremor, Gait ataxia, Hypogonadism, Brachy...	OMIM:300354
Developmental And Epileptic Encephalopathy 6B	Hyperkinetic movements, Inability to walk, Chorea, Dystonia, Ataxia, Myoclonus, Choreoathetosis	OMIM:619317
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Abnormality of extrap...	ORPHA:13
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Elevated circulating hepatic transaminase concentration, Hydro...	OMIM:614886
Spinocerebellar Ataxia 36	Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Truncal ataxia, Tongue fasciculations, In...	OMIM:614153
Snakebite Envenomation	Acute kidney injury, Respiratory paralysis, Angioedema, Paralysis, Edema, Pseudobulbar paralysis	ORPHA:449285
Rhabdoid Tumor	Anemia, Cerebral palsy, Oculomotor nerve palsy, Thrombocytopenia, Weight loss, Hemiplegia	ORPHA:69077
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Tremor, Muscle weakness	OMIM:617744
Congenital Myopathy 22A, Classic	Frequent falls, Waddling gait, Tricuspid regurgitation, Bradycardia	OMIM:620351
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Clubbing of fingers, Fasciculations, Impaired pain sensation, Tre...	OMIM:619574
Autoinflammatory-Pancytopenia Syndrome	Hemophagocytosis, Pancytopenia, Granuloma, Failure to thrive, Hepatosplenomegaly	OMIM:619858
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Bilateral vocal cord paresis	OMIM:614653
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Progressive muscle weakness, Distal muscle weakness, Failure to thrive, Dystonia, Ataxia	OMIM:256810
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Hyperkinetic movements, Methylmalonic acidemia, Inability to walk, Loss of ability to walk in ear...	OMIM:612073
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Lower limb spasticity, Abnormal circulating enzyme concentration or activity, Hype...	ORPHA:395
Neuroleptic Malignant Syndrome	Bradycardia, Chorea, Extrapyramidal muscular rigidity, Hypertension, Tremor, Hypotension, Hyperte...	ORPHA:94093
Erdheim-Chester Disease	Abnormal metaphysis morphology, Xanthelasma, Anemia, Diabetes insipidus, Increased bone mineral d...	ORPHA:35687
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis	ORPHA:85317
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Appendicular spasticity, Cerebral palsy, Microcephaly, Failure to thr...	OMIM:620001
Leukodystrophy, Hypomyelinating, 10	Babinski sign, Hyperkinetic movements, Inability to walk, Spasticity, Arachnodactyly, Failure to ...	OMIM:616420
Pachydermoperiostosis	Anemia, Abnormal cortical bone morphology, Impaired temperature sensation, Arthritis, Limitation ...	ORPHA:2796
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Oculopharyngodistal Myopathy 3	Neck muscle weakness, Tremor, Limb muscle weakness, Ophthalmoplegia, Ataxia	OMIM:619473
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Kyphosis	OMIM:230650
Glioblastoma	Paralysis	ORPHA:360
Autosomal Recessive Spastic Paraplegia Type 20	Spastic gait, Babinski sign, Abnormal thumb morphology, Genu valgum, Spastic dysarthria, Spastici...	ORPHA:101000
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:300554
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Rigidity, Hypotension	OMIM:145600
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ...	ORPHA:563
Hall-Riggs Syndrome	Platyspondyly, Scoliosis, Irregular vertebral endplates, Kyphosis	OMIM:234250
Fragile X-Associated Tremor/Ataxia Syndrome	Bradykinesia, Abnormal brainstem morphology, Abnormal autonomic nervous system physiology, Gait d...	ORPHA:93256
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Polyhydramnios, Spasticity, Neurogenic bladder, Vocal cord paralysis, Cerebral cor...	ORPHA:500144
Japanese Encephalitis	Pill-rolling tremor, Pulmonary edema, Hypertonia, Paralysis, Hyperintensity of MRI T2 signal of t...	ORPHA:79139
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Perry Syndrome	Bradykinesia, Akinesia, Tremor, Rigidity, Dystonia, Parkinsonism, Short stepped shuffling gait	OMIM:168605
Neuroblastoma	Anemia, Increased circulating lactate dehydrogenase concentration, Ataxia, Thrombocytopenia, Weig...	ORPHA:635
Silver-Russell Syndrome	Secondary microcephaly, Postnatal growth retardation, Cachexia, Short stature, Obesity, Intrauter...	ORPHA:813
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Choreoathetosis	OMIM:233910
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Optic atrophy, Decreased distal sensory nerve action potential, Difficulty walking,...	ORPHA:99956
19Q13.11 Microdeletion Syndrome	Cachexia, Microcephaly, Failure to thrive, Growth delay, Intrauterine growth retardation	ORPHA:217346
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Hypercholesterolemia, Minimal change glomerulonephriti...	ORPHA:567548
Oculopharyngodistal Myopathy 4	Postural tremor, External ophthalmoplegia, Tremor, Distal muscle weakness	OMIM:619790
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Tremor, Microcephaly, Short stature, Obesity	ORPHA:85293
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Fasciculations, Tetraplegia, Fractures of the long bones, Progressive spasticity, ...	ORPHA:496641
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Scoliosis, Kyphosis	ORPHA:178148
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, Spasticity, Tremor, Cerebral palsy, Gait...	ORPHA:765
Igg4-Related Pachymeningitis	Abnormality of the brachial nerve plexus, Elevated circulating C-reactive protein concentration, ...	ORPHA:449427
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Bradycardia	ORPHA:40366
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Difficulty walking, Spastic dysarthria, Progressive cerebellar ataxia, Spinocerebe...	ORPHA:95433
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Tetraplegia, Bradycardia	OMIM:610768
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Ce...	OMIM:620327
Developmental And Epileptic Encephalopathy 46	Cerebral atrophy, Limb hypertonia, Tremor, Microcephaly, Failure to thrive	OMIM:617162
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis	OMIM:259440
Mast Cell Sarcoma	Splenomegaly, Weight loss, Mastocytosis	ORPHA:66661
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Optic atrophy, Genu valgum, Anemia, Metaphyseal sclerosis, Abnormality of extrapyrami...	OMIM:612199
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Supranuclear Palsy, Progressive, 2	Neuronal loss in basal ganglia, Bradykinesia, Axial dystonia, Retrocollis, Gliosis, Granulovacuol...	OMIM:609454
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Urinary incontinence, Spastic dysarthria, Abnormality of pain sensat...	ORPHA:447753
Autosomal Recessive Cutis Laxa Type 2A	Secondary microcephaly, Dysplastic corpus callosum, Postnatal growth retardation, Spasticity, Ath...	ORPHA:357058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Difficulty walking, Hyperkinetic movements, Inability to walk, Elevated circulating hepatic trans...	OMIM:615356
Thymic Neuroendocrine Tumor	Osteopenia, Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thym...	ORPHA:97289
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Hypertonia, Skin rash, Tetraplegia, Hypoproteinemia, Generalized edema, CNS...	OMIM:603553
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Abnormal optic disc morphology, Acute demyelinating polyneuropath...	ORPHA:448237
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Neurodegeneration, Cerebellar atrophy, Gait ataxia	ORPHA:438134
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Hypertonia, Microcephaly, Failure to thrive, Anisocytosis	OMIM:604273
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata...	OMIM:259600
Chronic Hiccup	Weight loss	ORPHA:396
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Difficulty walking, Limb hypertonia, Cerebellar vermis hypoplasia, Tremor, Cere...	ORPHA:572798
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Brain atrophy, Spasticity, Tremor, Inability to walk	OMIM:618718
Combined Oxidative Phosphorylation Deficiency 12	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Babinski sign, Bradykinesia, Spast...	OMIM:614924
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Olivopo...	OMIM:212065
Mitochondrial Complex I Deficiency, Nuclear Type 11	Scoliosis, Kyphosis	OMIM:618234
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Bradycardia	OMIM:617397
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Hyperkinetic movements, Truncal ataxia, Loss of ability to walk in first decade, Cerebellar atrop...	OMIM:300243
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis	OMIM:618237
Necrotizing Enterocolitis	Shock, Hypotension, Bradycardia	ORPHA:391673
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Encephalitis Lethargica	Tremor, Parkinsonism, Bradycardia	ORPHA:83600
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Progressive proximal muscle weakness, Muscle weakness	ORPHA:368
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Abnormality of iron homeostasis, Arthritis, Chronic...	ORPHA:465508
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Hemiplegia	ORPHA:3217
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Scoliosis, Kyphosis	OMIM:611890
Cranio-Osteoarthropathy	Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati...	ORPHA:1525
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Alveolar Echinococcosis	Decreased liver function, Abnormal adrenal morphology, Jaundice, Anemia, Liver abscess, Increased...	ORPHA:284
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Distal sensory impairment, Sandal gap, Broad-based gait, 2-3...	ORPHA:477817
Epilepsy, Progressive Myoclonic, 10	Progressive cerebellar ataxia, Spasticity, Ataxia, Spastic ataxia, Myoclonus, Spastic tetraplegia	OMIM:616640
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Tremor, Leukopenia, Ataxia, Splenomegaly, Impaired neutrophil bacterici...	OMIM:214500
Neutral Lipid Storage Myopathy	Neck muscle weakness, Fasciculations, Gowers sign, Progressive proximal muscle weakness, Progress...	ORPHA:98908
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr...	OMIM:619802
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations	OMIM:271200
Developmental And Epileptic Encephalopathy 72	Hyperkinetic movements, Inability to walk, Delayed CNS myelination	OMIM:618374
Mohr-Tranebjaerg Syndrome	Spasticity, Tremor, Dystonia	OMIM:304700
Thymic Carcinoma	Diaphragmatic paralysis, Fatigable weakness, Weight loss	ORPHA:99868
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Osteolytic defe...	OMIM:201300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Aromatic L-Amino Acid Decarboxylase Deficiency	Babinski sign, Poor head control, Oculogyric crisis, Limb hypertonia, Tremor, Failure to thrive, ...	ORPHA:35708
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Sensory axonal neuropathy, Elevated circulating creatine kinase conce...	OMIM:618733
Fryns-Smeets-Thiry Syndrome	Microcephaly, Cachexia, Short stature	ORPHA:2058
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Asparagine Synthetase Deficiency	Hypertonia, Global brain atrophy, Limb hypertonia, Cerebellar vermis hypoplasia, Optic nerve hypo...	OMIM:615574
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Progressive proximal muscle weakness, Ataxia, Shoulder girdle mu...	ORPHA:98907
Ataxia-Telangiectasia	Delayed puberty, T lymphocytopenia, Female hypogonadism, Ataxia, Lymphopenia, Myoclonus, Decrease...	OMIM:208900
D-Bifunctional Protein Deficiency	Hypoplasia of the corpus callosum, Cerebral dysmyelination, Polymicrogyria, Gliosis, Cortical dys...	OMIM:261515
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Hyperkinetic movements, El...	ORPHA:525731
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex	OMIM:176920
Erythrokeratodermia Variabilis	Diabetes mellitus, Weight loss, Tapered finger, Brachydactyly	ORPHA:317
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Spinocerebellar Ataxia 10	Limb ataxia, Babinski sign, Limb fasciculations, Bradykinesia, Progressive cerebellar ataxia, Dis...	OMIM:603516
Adult-Onset Distal Myopathy Due To Vcp Mutation	Difficulty walking, Decreased nerve conduction velocity, Fasciculations, Tremor, Facial diplegia,...	ORPHA:329478
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Babinski sign, Spasticity, Tremor, Optic disc pallor, Spastic paraplegia, Ataxia, CNS hypomyelina...	OMIM:618527
Cerebral Visual Impairment	Optic atrophy, Oculomotor apraxia, Optic nerve hypoplasia, Cerebral palsy, Central nervous system...	ORPHA:447788
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, Muscle weakness, Hemolytic a...	ORPHA:713
Refractory Celiac Disease	Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra...	ORPHA:398063
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated...	ORPHA:666
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Distal muscle weakness, Progressive external ophthalmoplegia, Slender build, Weight los...	OMIM:603041
Lipodystrophy, Congenital Generalized, Type 4	Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia	OMIM:613327
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss	ORPHA:86893
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 reductase activity, Hyperto...	OMIM:250800
Familial Colorectal Cancer Type X	Neoplasm of the thyroid gland, Hypertonia, Gait disturbance, Hemiplegia/hemiparesis, Pituitary ad...	ORPHA:440437
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Abnormality of the kidney, Hypospadias, Cerebral cortical atrophy, O...	ORPHA:1194
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:618484
Congenital Myopathy 15	Waddling gait, Vocal cord paralysis	OMIM:620161
Inflammatory Pseudotumor Of The Liver	Elevated circulating alanine aminotransferase concentration, Weight loss, Elevated circulating as...	ORPHA:90003
Continuous Spikes And Waves During Sleep	Clumsiness, Hyperkinetic movements, Speech apraxia, Dystonia	ORPHA:725
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
3-Methylglutaconic Aciduria, Type Viib	Hyperkinetic movements, Rhizomelia, Spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Fle...	OMIM:616271
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Scoliosis, Hyperlordosis, Kyphosis	OMIM:615761
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Abnormality of extrapyramidal motor function, Tremor, Cardiac arrest, Hypotension, P...	OMIM:277400
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio...	OMIM:168000
Hydroxykynureninuria	Tachycardia, Hypertonia, Hypotension	ORPHA:79155
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Dy...	OMIM:617675
Proximal Spinal Muscular Atrophy	Tongue fasciculations, Difficulty walking, Inability to walk, Bradycardia	ORPHA:70
Amyotrophic Lateral Sclerosis 5, Juvenile	Babinski sign, Fasciculations, Spasticity, Abnormal pyramidal sign, Abnormal lower motor neuron m...	OMIM:602099
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Babinski sign, Broad-based gait, Impaired distal proprioception, Positive Romberg sign, Periphera...	OMIM:607459
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Anemia, Increased serum bile acid concentration, Hypokalemia, Hydro...	OMIM:619377
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal T cell morphology, Hypertonia, Decreased proportion of CD3-...	ORPHA:760
Ullrich Congenital Muscular Dystrophy	Short neck, Scoliosis, Kyphosis, Spinal rigidity	ORPHA:75840
Pyruvate Carboxylase Deficiency	Hyperammonemia, Ataxia, Cerebellar gliosis, Tip-toe gait, Elevated plasma citrulline, Tremor, Inc...	ORPHA:3008
Scrub Typhus	Myocarditis, Skin rash, Tremor, Anterior uveitis, Renal insufficiency, Infectious encephalitis	ORPHA:83317
Combined Oxidative Phosphorylation Deficiency 39	Babinski sign, Spasticity, Involuntary movements, Sinus bradycardia, Ankle clonus	OMIM:618397
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Hypoparathyroidism, Macrocytic anemia, Decr...	ORPHA:199299
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Flared metaphysis, Decreased skull ossification, Multiple prenatal fractures, Decreas...	OMIM:616897
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Optic atrophy, Babinski sign, Hyperkinetic movements, Cerebellar vermis hypoplasia, Spasticity, C...	OMIM:620089
Neurodegeneration With Brain Iron Accumulation 2B	Bradykinesia, Babinski sign, Hypertonia, Optic atrophy, Cerebral atrophy, Chorea, Spasticity, Dys...	OMIM:610217
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Cerebral atrophy, Myoglobinuria, Elevated circulating creatine kinase concentratio...	OMIM:616878
Trisomy 18	Hypertonia, Anencephaly, Cachexia, Spina bifida, Microcephaly, Short stature, Growth delay, Intra...	ORPHA:3380
Neuroblastoma, Susceptibility To, 1	Anemia, Failure to thrive, Ataxia, Weight loss, Myoclonus, Ganglioneuroma, Spinal cord compression	OMIM:256700
Foodborne Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:228371
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Hypophos...	OMIM:300009
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Anisospondyly, ...	OMIM:156530
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt...	OMIM:308240
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Splenomegaly, Pancytopenia	OMIM:300635
Sjogren-Larsson Syndrome	CNS demyelination, Spastic paraparesis, Spasticity, Flexion contracture	OMIM:270200
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Incoordination, Camptodactyly, Ataxia, Syndactyly, Arthrogryposis-like hand anomaly, Spastic para...	ORPHA:369891
Griscelli Syndrome Type 2	Hypertonia, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Scoliosis, Kyphosis	ORPHA:2181
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Kyphosis	OMIM:618124
Bruck Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:2771
Tbck-Related Intellectual Disability Syndrome	Progressive muscle weakness	ORPHA:488632
Lujo Hemorrhagic Fever	Myocarditis, Bradycardia, Resting tremor, Hypotension, Subconjunctival hemorrhage, Shock	ORPHA:319213
Hyperkalemic Periodic Paralysis	Hyperkalemia, Hypertonia, Periodic hyperkalemic paralysis, Hypokalemia, Fasciculations, Cerebral ...	ORPHA:682
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Steppage gait, Fasciculations, Impaired vibration sensation in the lower limbs, Abnormal circulat...	ORPHA:521411
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Peripheral axonal neuropathy, Microcephaly, Colpocephaly, Agenesis of...	OMIM:619955
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating hepatic transaminase concentration, Facial diplegia, Cerebellar atrophy, Gai...	ORPHA:254892
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Typhoid	Hypertonia, Skin rash, Tremor, Ataxia, Infectious encephalitis	ORPHA:99745
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements	ORPHA:397933
Immunoglobulin A Vasculitis	Optic atrophy, Glomerulopathy, Hematuria, Arthritis, Skin rash, Episcleritis, Angioedema, Hemiple...	ORPHA:761
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Global brain atrophy, Torticollis, Brain atrophy, Tremor, Cerebellar edema, Rigidity, Ataxia, Tet...	OMIM:617186
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Hypertonia, Tetraplegia, Hypoproteinemia, Generalized edema, Ataxia, Hypoal...	OMIM:267700
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co...	OMIM:619638
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Skin rash, Papilledema, Renal insufficienc...	ORPHA:33475
Avian Influenza	Acute kidney injury, Myelitis, Elevated circulating C-reactive protein concentration, Pleural eff...	ORPHA:454836
Sandhoff Disease	Orthostatic hypotension, Impaired temperature sensation, Fasciculations, Spasticity, Upper motor ...	OMIM:268800
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Thyroiditis, Skin rash, Hepatitis, Nephrotic syndrome, Angioedema, Pustule, Infectio...	ORPHA:139402
L-2-Hydroxyglutaric Aciduria	Abnormality of extrapyramidal motor function, Spastic tetraparesis, Infectious encephalitis	ORPHA:79314
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss, Clubbing of toes	ORPHA:2198
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Optic atrophy, Akinesia, Global brain atrophy, Abnormality of extrap...	OMIM:234200
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Vertebral segmentation defect, Kyphosis	ORPHA:2617
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Hep...	ORPHA:158057
Sjögren-Larsson Syndrome	Scoliosis, Kyphosis	ORPHA:816
Nipah Virus Disease	Tremor, Infectious encephalitis, Myoclonus	ORPHA:99825
Gm2 Gangliosidosis, Ab Variant	Cerebral atrophy, Chorea, Exaggerated startle response, Dystonia, Abnormal pyramidal sign, Neurod...	ORPHA:309246
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Babinski sign, Impaired proprioception, Difficulty walking, Sensory ataxia, Mitochondrial hypertr...	OMIM:500013
Lysosomal Acid Lipase Deficiency	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Cach...	ORPHA:275761
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Fasciculations, Tongue fasciculations, Loss of ambulation	OMIM:613435
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega...	ORPHA:37042
Legionnaires Disease	Myocarditis, Hematuria, Pancreatitis, Hepatitis, Pericarditis, Endocarditis, Proteinuria, Ataxia,...	ORPHA:549
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor...	OMIM:619598
Bruck Syndrome 1	Vertebral wedging, Scoliosis, Platyspondyly, Kyphosis	OMIM:259450
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Proximal muscle weakness, Tremor, Progressive distal muscle weakness, Lower limb muscle weakness	ORPHA:397744
Alexander Disease	Osteopenia, Aqueductal stenosis, Hydrocephalus, Chorea, Tetraplegia, Tremor, Spasticity, Abnormal...	ORPHA:58
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Fasciculations, Gait disturbance	OMIM:608030
Stüve-Wiedemann Syndrome	Abnormal autonomic nervous system physiology, Flexion contracture of finger, Elbow flexion contra...	ORPHA:3206
Sepsis In Premature Infants	Tachycardia, Hypotension, Bradycardia	ORPHA:90051
Bacterial Toxic-Shock Syndrome	Myocarditis, Fasciitis, Myositis, Arthritis, Skin rash, Recurrent urinary tract infections, Eleva...	ORPHA:36234
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Spasticity, Bone-marrow foam cells, Cataplexy, Gait ataxia, Dystonia, Ata...	OMIM:257220
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hypophosphatemic rickets, Elevated circulating hepatic transaminase co...	ORPHA:263455
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Reduced bone mineral density, Genu valgum, Small epiphyses, Upper limb un...	ORPHA:94068
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hypoplasia of the corpus callosum, Limb ataxia, Hypertonia, Delayed puberty, Anemia, Oculomotor a...	ORPHA:2072
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets, Rickets...	ORPHA:289176
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor...	OMIM:616900
Myopathy, Centronuclear, 2	Scoliosis, Hyperlordosis, Kyphosis	OMIM:255200
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Recurrent skin infections, Neurodegeneration, Delayed CNS mye...	OMIM:620210
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Facial edema, Minimal change glomerulonephritis, Pleural effusion, Ascites, Foca...	ORPHA:567546
Adult-Onset Dystonia-Parkinsonism	Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic medication, Tremor...	ORPHA:199351
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Failure to thrive, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Monocytosis	OMIM:619644
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Secondary microcephaly, Hypoplasia of the corpus callosum, Large for gestational age, Lower limb ...	OMIM:300868
Caffey Disease	Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Periosteal thickening of lon...	OMIM:114000
Hyperlysinemia	Tip-toe gait, Neck hypertonia, Abnormal circulating enzyme concentration or activity, Tremor, Spa...	ORPHA:2203
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Kyphosis	OMIM:130060
Tick-Borne Encephalitis	Elevated circulating hepatic transaminase concentration, Tongue fasciculations, Incoordination, A...	ORPHA:297
Hartnup Disease	Skin rash, Ataxia, Abnormal urinary color, Neutral hyperaminoaciduria, Infectious encephalitis	ORPHA:2116
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Arthritis, Failure to thrive, Thrombocytopenia, Weight loss, Recurrent cuta...	ORPHA:47
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Spastic tetraparesis, Microcephaly...	OMIM:619179
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Gliosis, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, R...	OMIM:120330
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
Even-Plus Syndrome	Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum	OMIM:616854
Nijmegen Breakage Syndrome	Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Glioma, Microcephaly, Short stature, Throm...	ORPHA:647
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Difficulty walking, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Optic disc pallor,...	ORPHA:502423
Amyotrophic Lateral Sclerosis 1	Fasciculations, Spasticity, Degeneration of anterior horn cells, Pseudobulbar paralysis	OMIM:105400
Superficial Siderosis	Limb ataxia, Babinski sign, Abnormality of the vestibulocochlear nerve, Impaired temperature sens...	ORPHA:247245
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Cranial n...	ORPHA:276621
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Tremor, Failure to thrive, Abnormality of the sp...	ORPHA:94063
Crimean-Congo Hemorrhagic Fever	Hematemesis, Myocarditis, Melena, Bradycardia, Capillary leak, Fasciculations, Hypertension, Hypo...	ORPHA:99827
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormality of B cell physiology, Hypouricemia, Neutropenia in prese...	OMIM:613179
Pyruvate Dehydrogenase E2 Deficiency	Babinski sign, Hypertonia, Difficulty walking, Paroxysmal dystonia, Broad-based gait, Gait distur...	ORPHA:79244
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis, Neonatal death, Pachygyria	OMIM:231680
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Scoliosis, Kyphosis	ORPHA:1883
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Hyperlordosis, Fused cervical vertebrae, Kyphosis	ORPHA:2522
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Aganglionic megacolon, Oculomotor apraxia, Cerebellar vermis hypoplasia,...	ORPHA:220497
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Ataxia, Weight loss	ORPHA:79242
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto...	ORPHA:3226
Glycogen Storage Disease Due To Acid Maltase Deficiency	Diaphragmatic weakness, Fatigable weakness of respiratory muscles, Generalized muscle weakness, G...	ORPHA:365
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Elevated circulating hepatic transaminase concentration, Oculomotor apra...	ORPHA:1454
Acute Disseminated Encephalomyelitis	Myelitis, Abnormal basal ganglia morphology, Diaphragmatic paralysis, Hypointensity of cerebral w...	ORPHA:83597
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy	OMIM:615084
Arnold-Chiari Malformation Type I	Abnormality of the vestibulocochlear nerve, Babinski sign, Abnormality of the twelfth cranial ner...	ORPHA:268882
Aicardi-Goutieres Syndrome 7	Hypertonia, Anemia, Increased circulating antibody level, Limb hypertonia, Lower limb spasticity,...	OMIM:615846
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-...	OMIM:613011
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Optic atrophy, Facial-lingual fasciculations, Cerebral calcification,...	OMIM:617281
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion	OMIM:606612
Oculopharyngodistal Myopathy 1	External ophthalmoplegia, Tremor, Facial palsy, Distal muscle weakness, Respiratory insufficiency...	OMIM:164310
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Hypertonia, Hyperkinetic movements, Elevated circulating hepatic transaminase concen...	ORPHA:17
Cystic Echinococcosis	Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulating antibody...	ORPHA:400
Joubert Syndrome	Aganglionic megacolon, Oculomotor apraxia, Encephalocele, Cerebellar vermis hypoplasia, Hydroceph...	ORPHA:475
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 26	Scoliosis, Kyphosis	OMIM:615834
Schwartz-Jampel Syndrome	Flexion contracture of toe, Cachexia, Wrist flexion contracture, Abnormally ossified vertebrae, J...	ORPHA:800
Porphyria, Acute Intermittent	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Respiratory paralysis, Dysuria,...	OMIM:176000
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Babinski sign, Optic atrophy, Patellar hypoplasia, Ankle clonus, Elbo...	ORPHA:3132
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Spastic hemiparesis, H...	ORPHA:20
Dpagt1-Cdg	Optic atrophy, Hypertonia, Akinesia, Elevated circulating hepatic transaminase concentration, Ina...	ORPHA:86309
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Aplastic anemia, Osteopenia, Abnormal ulnar metaphysis morphology, Anemia, ...	ORPHA:221008
Hirschsprung Disease	Neoplasm of the thyroid gland, Aganglionic megacolon, Failure to thrive in infancy, Weight loss, ...	ORPHA:388
Wolfram Syndrome 1	Optic atrophy, Diabetes insipidus, Megaloblastic anemia, Tremor, Hypothyroidism, Sideroblastic an...	OMIM:222300
Inclusion Body Myopathy And Brain White Matter Abnormalities	Fasciculations, Babinski sign, Elevated circulating creatine kinase concentration	OMIM:619733
Felty Syndrome	Anemia, Arthritis, Abnormal lymphocyte morphology, Limitation of joint mobility, Synovitis, Bone ...	ORPHA:47612
Parkinson Disease 4, Autosomal Dominant	Parkinsonism, Weight loss	OMIM:605543
Fatal Familial Insomnia	Ataxia, Abnormal autonomic nervous system physiology, Weight loss, Myoclonus	OMIM:600072
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Optic atrophy, Decreased response to growth hormone stimulation test, Cerebel...	OMIM:601808
Gabriele-De Vries Syndrome	Hypoplasia of the corpus callosum, Gliosis, Tremor, Delayed myelination, Dystonia, Abnormal cereb...	ORPHA:506358
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Progressive microcephaly, Multifoc...	ORPHA:488627
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Scoliosis, Hyperlordosis, Kyphosis, Vertebral fusion	OMIM:607155
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Impaired T cell function, Failure to thrive, Decreased serum zinc, Ataxia, Splenomegaly, ...	OMIM:201100
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Short finger, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Tremor, Osteoporosis,...	OMIM:300998
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Scoliosis, Kyphosis	OMIM:619797
Mucopolysaccharidosis, Type Iva	Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Scoliosis, Hyperlordosis, Kyphosis, Ovoid ...	OMIM:253000
Insulinoma	Hyperinsulinemia, Abnormality of pain sensation, Neoplasm of the adrenal gland, Tremor, Increased...	ORPHA:97279
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia, Muscle weakness, Abdominal wall muscle weakness	ORPHA:109
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:614409
Autism Spectrum Disorder Due To Auts2 Deficiency	Scoliosis, Kyphosis	ORPHA:352490
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul...	OMIM:613673
Familial Glucocorticoid Deficiency	Hyperkalemia, Azoospermia, Tetraplegia, Decreased circulating dehydroepiandrosterone concentratio...	ORPHA:361
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Optic nerve compress...	OMIM:612301
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Kyphosis, Atlantoaxial instability, Hypoplasia of the odo...	OMIM:607326
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculomotor apraxia, Oculogyric crisis, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor...	OMIM:612716
Gitelman Syndrome	Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Increased circulating renin level, No...	OMIM:263800
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph...	ORPHA:2658
Brody Disease	Fasciculations, Somatic sensory dysfunction, Flexion contracture	OMIM:601003
Graves Disease	Weight loss, Muscle weakness	OMIM:275000
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Patholo...	ORPHA:221016
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis	ORPHA:83601
Follicular Lymphoma	Splenomegaly, Weight loss	ORPHA:545
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Short greater sciatic notch, Hydrocephalus, Wide anterior fontane...	ORPHA:1860
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal putamen morphology, Abnormal basal ganglia morphology, Chorea, Open operculum, Pallidal ...	ORPHA:25
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Peripheral axonal neuropathy, Spasticity, Neonatal death	OMIM:618810
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Skin rash, Abnormal renal physiology, Infectious encephalitis, Erythroderma...	ORPHA:540
Seckel Syndrome	Microcephaly, Cachexia, Intrauterine growth retardation, Short stature	ORPHA:808
Eosinophilic Fasciitis	Arthritis, Abnormal eosinophil morphology, Weight loss, Eosinophilia, Paresthesia	ORPHA:3165
Peripheral Primitive Neuroectodermal Tumor	Abnormal superior cerebellar peduncle morphology, Jaundice, Anemia, Torticollis, Increased circul...	ORPHA:370348
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis...	ORPHA:93314
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis	ORPHA:3085
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Oculomotor apraxia, Encephalocele, Cerebellar vermis hypoplasia, Hydroceph...	ORPHA:220493
Multiple Endocrine Neoplasia Type 1	Adrenocortical abnormality, Reduced bone mineral density, Pheochromocytoma, Pituitary growth horm...	ORPHA:652
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Kyphosis	OMIM:618272
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ankle flexion contracture, Hypertonia, Hyperkinetic movements, Cerebellar hypoplasia, 2-5 finger ...	ORPHA:468631
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Becker Nevus Syndrome	Scoliosis, Kyphosis, Spina bifida occulta	ORPHA:64755
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Fasciculations, Abnormal lower motor neuron morphology	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Fasciculations, Abnormal lower motor neuron morphology	OMIM:616437
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Prominent protruding coccyx, Gait imbalance, Prominent coccyx, Cerebellar vermis hypo...	OMIM:300966
Giant Cell Arteritis	Optic atrophy, Paresthesia, Diabetes insipidus, Arthritis, Joint stiffness, Ataxia, Weight loss, ...	ORPHA:397
Inhalational Botulism	Paralysis	ORPHA:254504
Rhizomelic Syndrome, Urbach Type	Short neck, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3098
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
African Trypanosomiasis	Urinary incontinence, Fasciculations, Optic neuritis, Pericarditis, Myocarditis, Impaired proprio...	ORPHA:3385
Ruvalcaba Syndrome	Scoliosis, Kyphosis	OMIM:180870
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Leukopenia,...	ORPHA:2298
Wilson Disease	Parkinsonism with favorable response to dopaminergic medication, Limb dystonia, Rigidity, Acute h...	OMIM:277900
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Elevated circulating hepatic transaminase concentration, Weight loss	ORPHA:65682
Cockayne Syndrome Type 1	Optic atrophy, Difficulty walking, Elevated circulating hepatic transaminase concentration, Anemi...	ORPHA:90321
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Myopathy, Myofibrillar, 2	Fasciculations, Elevated circulating creatine kinase concentration	OMIM:608810
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Kyphosis, Neuropathic spinal arthropathy	ORPHA:352447
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Broad-based gait, Tremor, Limitation of movement at ankles, Delayed myelination, ...	ORPHA:98794
Acute Promyelocytic Leukemia	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Weight loss, Muscle weakness, N...	ORPHA:520
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia...	ORPHA:1501
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight loss, Hypochromic anemia	ORPHA:514
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:536516
Femoral-Facial Syndrome	Abnormal fibula morphology, Maternal diabetes, Abnormal pelvic girdle bone morphology, Coxa vara,...	ORPHA:1988
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Hypertonia, Oculogyric crisis, Tremor, Cerebral palsy, Parkinsonism	ORPHA:1578
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Oromandibular dystonia, Tremor, Finger joint contracture, Symphalangism of the thumb, Joint stiff...	OMIM:620494
Argininemia	Spastic gait, Cerebellar atrophy, Frequent falls, Spastic paraparesis, Progressive spastic quadri...	OMIM:207800
Alg1-Cdg	Scoliosis, Kyphosis	ORPHA:79327
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Congenital Disorder Of Glycosylation, Type Ij	Hypertonia, Jaundice, Elevated circulating hepatic transaminase concentration, Clinodactyly of th...	OMIM:608093
Amyotrophic Lateral Sclerosis 18	Fasciculations, Spasticity	OMIM:614808
Niemann-Pick Disease Type C	Abnormal CNS myelination, Chorea, Demyelinating peripheral neuropathy, Limb dystonia, Ataxia, Myo...	ORPHA:646
Isolated Thyroid-Stimulating Hormone Deficiency	Clumsiness, Bradycardia	ORPHA:90674
Crisponi Syndrome	Scoliosis, Kyphosis	ORPHA:1545
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebral atrophy, Gliosis, Spasticity, Failure to thrive, Neonatal death, Ataxia, Delayed CNS mye...	OMIM:124000
Beta-Ketothiolase Deficiency	Hyperuricemia, Spasticity, Leukocytosis, Hyperammonemia, Ataxia, Extrapyramidal dyskinesia, Weigh...	ORPHA:134
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss	ORPHA:142
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Demyelinating peripheral neuropathy, Ext...	ORPHA:51
Kallmann Syndrome	Delayed puberty, Reduced bone mineral density, Anterior hypopituitarism, Paraplegia, Tremor, Gait...	ORPHA:478
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Paragangli...	ORPHA:29072
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Hypoplasia of the ulna, Reduced bone mineral density, Anemia, Calcin...	ORPHA:2909
Clark-Baraitser syndrome	Scoliosis, Kyphosis	OMIM:300602
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Elevated circulating hepatic transaminase concentration, Abnormal circulati...	ORPHA:79095
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Joint hypermobility, Recurren...	OMIM:617952
Subaortic Stenosis-Short Stature Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:3191
Pfapa Syndrome	Splenomegaly, Weight loss	ORPHA:42642
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis	ORPHA:137834
Brown-Vialetto-Van Laere Syndrome 1	Gait imbalance, Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Ataxia,...	OMIM:211530
Full Schwannomatosis	Peripheral schwannoma, Fasciculations, Hypoesthesia, Schwannoma, Neoplasm of the anterior pituita...	ORPHA:93921
Riddle Syndrome	Arthritis, Demyelinating peripheral neuropathy, Gait disturbance, Decreased circulating IgG level...	ORPHA:420741
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Mic...	OMIM:613848
Congenital Enterovirus Infection	Myocarditis, Hydrops fetalis, Polyhydramnios, Skin rash, Pleural effusion, Pericardial effusion, ...	ORPHA:292
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ...	ORPHA:2916
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Aspergillosis	Abnormality of the kidney, Pleural effusion, Bronchiectasis, Sinusitis, Osteomyelitis, Keratitis,...	ORPHA:1163
Mitochondrial Complex I Deficiency, Nuclear Type 2	Gliosis, Dystonia, Ankle clonus	OMIM:618222
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Splenic cyst, Fractured rib, Femoral bowing, Short long...	OMIM:618188
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Neutrophilia, Weight loss, Brain abscess	ORPHA:54251
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen...	OMIM:301078
Intrahepatic Cholestasis Of Pregnancy	Jaundice, Elevated circulating hepatic transaminase concentration, Tremor, Elevated circulating a...	ORPHA:69665
Sialuria	Hyperkinetic movements, Elevated circulating hepatic transaminase concentration, 2-3 toe syndacty...	ORPHA:3166
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	ORPHA:158029
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:829
Alpha-Mannosidosis	Short neck, Scoliosis, Kyphosis	ORPHA:61
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Behçet Disease	Optic neuritis, Pericarditis, Ataxia, Recurrent aphthous stomatitis, Hemiparesis, Endocarditis, K...	ORPHA:117
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Tremor, Thyroi...	ORPHA:91347
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ...	OMIM:620430
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Kyphosis	OMIM:609541
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Myelofibrosis	Splenomegaly, Extramedullary hematopoiesis, Myeloproliferative disorder, Hemophagocytosis	OMIM:254450
Listeriosis	Myocarditis, Acute kidney injury, Somatic sensory dysfunction, Pyelonephritis, Arteritis, Tremor,...	ORPHA:533
Hurler Syndrome	Abnormal diaphysis morphology, Abnormal nerve conduction velocity, Hydrocephalus, Limitation of j...	ORPHA:93473
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Tetraplegia, Tremor, Obesity, Periodic hypokalemic paresis, Weight loss, P...	ORPHA:79102
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Increased circulating antibody level, O...	ORPHA:355
Takayasu Arteritis	Anemia, Weight loss, Muscle weakness	ORPHA:3287
Neurocutaneous Melanocytosis	Syringomyelia, Hemiparesis, Renal hypoplasia/aplasia, Infectious encephalitis	ORPHA:2481
Addison Disease	Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ...	ORPHA:85138
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Interphalangeal joint erosions, Rheumatoid...	OMIM:180300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Fasciculations	OMIM:619141
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	ORPHA:26791
Hereditary Sensory And Autonomic Neuropathy Type 5	Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers, Impaired temper...	ORPHA:64752
Mucolipidosis Iii Gamma	Short neck, Scoliosis, Hyperlordosis, Kyphosis	OMIM:252605
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebral atrophy, Ureteral duplication, Polyhydramnios, Spasticity, Vesicoureteral reflux, Tremor...	OMIM:614080
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Weight loss, Diabetes insipidus	ORPHA:178029
Abnormal Hair, Joint Laxity, And Developmental Delay	Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin ...	ORPHA:171876
Spondyloepiphyseal Dysplasia Congenita	Scoliosis, Kyphosis, Atlantoaxial instability, Ovoid vertebral bodies, Hypoplasia of the odontoid...	OMIM:183900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypoplasia of the corpus callosum, Hypertonia, Gliosis, Cerebral cortical atrophy, Microcephaly, ...	ORPHA:268261
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Rhizomelia, Ulnar bowing, Flared metaphysi...	OMIM:100800
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat...	ORPHA:247585
Glycosylphosphatidylinositol Biosynthesis Defect 17	Microcephaly, Growth delay, Dysplastic corpus callosum	OMIM:618010
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis	OMIM:619338
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Abnormality of the kidney, Hypoplasia of penis, Recurrent urinary tract infections...	ORPHA:847
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod...	ORPHA:2311
4Q21 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:238750
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Diastrophic Dysplasia	Scoliosis, Hypoplastic cervical vertebrae, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:628
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Delayed puberty, Decreased response to growth hormone stimulation test, Bilateral camptodactyly, ...	OMIM:619234
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Sandal gap, Hypocalcemia, Decreased circulating IgA level, ...	OMIM:607143
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog...	ORPHA:79276
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Hyperkinetic movements, Athetoid cerebral palsy, Chorea, 2-3 toe syndactyly, Bilat...	ORPHA:522077
Bohring-Opitz Syndrome	Dislocated radial head, Dandy-Walker malformation, Mesomelic/rhizomelic limb shortening, Camptoda...	OMIM:605039
Atelosteogenesis Type Ii	Sandal gap, Tracheobronchomalacia, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rh...	ORPHA:56304
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Polyarteritis Nodosa	Sensory axonal neuropathy, Polyneuritis, Weight loss	ORPHA:767
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Spina bifida occulta, Kyphosis	ORPHA:2983
Rheumatic Fever	Hemiballismus, Fasciculations, Arthritis, Chorea, Gait disturbance	ORPHA:3099
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Kyphosis	ORPHA:79107
Trisomy 9P	Short neck, Scoliosis, Sacral dimple, Kyphosis	ORPHA:236
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Hypertonia, Thin corpus callosum, Optic nerve hypoplasia, Gliosis, Spasticity, Spastic tetrapares...	OMIM:620455
Polymyositis	Elevated circulating aldolase concentration, Arthritis, Elevated circulating creatine kinase conc...	ORPHA:732
Marburg Hemorrhagic Fever	Bradycardia, Capillary leak, Dysesthesia, Hypotension, Hypovolemia, Internal hemorrhage, Pericard...	ORPHA:99826
Attrv30M Amyloidosis	Abnormal autonomic nervous system physiology, Weight loss	ORPHA:85447
Arthrogryposis, Distal, Type 5	Scoliosis, Kyphosis	OMIM:108145
Hypercalcemia, Infantile, 1	Hypercalcemia, Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss	OMIM:143880
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:300280
Episodic Ataxia Type 7	Hyperkinetic movements, Episodic ataxia	ORPHA:209970
Benign Samaritan Congenital Myopathy	Fasciculations	ORPHA:324581
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Action tremor, Short humerus, Ataxia, Joint hypermobility, Long toe, Leukod...	ORPHA:3455
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase of hepatic...	ORPHA:100085
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Spasticity, Bone-marrow foam cells, Cataplexy, Dystonia, Ataxia, Splenome...	OMIM:607625
3-Methylglutaconic Aciduria, Type Viii	Hypertonia, Tremor, Clonus, Bradycardia	OMIM:617248
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions, Short stature	ORPHA:557003
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Anemia, Decreased proportion of CD3-positive T cells, Hypocalcem...	ORPHA:90362
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Difficulty walking, Spasticity, Rigidity, Ataxia, Agenesis of corpus callosum, Spa...	OMIM:618476
Arthrogryposis, Distal, Type 4	Lumbar scoliosis, Scoliosis, Kyphosis	OMIM:609128
Brucellosis	Chorea, Granuloma, Leukopenia, Splenomegaly, Abnormality of the peripheral nervous system, Increa...	ORPHA:1304
Foix-Alajouanine Syndrome	Difficulty walking, Cervical myelopathy, Gait imbalance, Dysesthesia, Frequent falls, Unsteady ga...	ORPHA:79093
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc...	ORPHA:2062
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Tremor, Gait disturban...	ORPHA:2754
Lyme Disease	Arthritis, Uveitis, Joint swelling, Infectious encephalitis, Paresthesia	ORPHA:91546
Scheie Syndrome	Abnormal nerve conduction velocity, Limitation of joint mobility, Cerebral palsy, Joint stiffness...	ORPHA:93474
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Multiple Myeloma	Osteopenia, Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased c...	ORPHA:29073
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Babinski sign, Hypertonia, Brain atrophy, Spasticity, Tremor, Glycosuria, Elevated hemoglobin A1c...	OMIM:616539
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Ivic Syndrome	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, C...	OMIM:147750
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Elevated circulating creatine kinas...	ORPHA:1652
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Polymicrogyria, Failure to thrive, Pachygyria	ORPHA:2328
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Weight loss	ORPHA:1302
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Large for gestational age, Spasticity, Lateral ventricle dilatation, ...	ORPHA:544488
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Young-Onset Parkinson Disease	Bradykinesia, Gait imbalance, Spasticity, Tremor, Abnormal autonomic nervous system physiology, R...	ORPHA:2828
Marfanoid Habitus With Situs Inversus	Scoliosis, Kyphosis	OMIM:609008
Scorpion Envenomation	Myocarditis, Congestive heart failure, Hyperkinetic movements, Prominent U wave, Hypertension, My...	ORPHA:466677
Pleural Mesothelioma	Weight loss	ORPHA:50251
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hand tremor, Small for gestational age, Weight loss	ORPHA:424
Mucopolysaccharidosis, Type Ii	Recurrent otitis media, Dermatan sulfate excretion in urine, Papilledema, Recurrent pneumonia, Ce...	OMIM:309900
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Optic nerve ...	ORPHA:667
Bohring-Opitz Syndrome	Lower limb hypertonia, Inability to walk, Bradycardia	ORPHA:97297
Bronchial Neuroendocrine Tumor	Hepatic failure, Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, We...	ORPHA:97287
Thanatophoric Dysplasia	Platyspondyly, Kyphosis, Abnormal sacroiliac joint morphology	ORPHA:2655
Biotinidase Deficiency	Optic atrophy, Decreased circulating biotinidase concentration, Optic neuropathy, Hyperammonemia,...	ORPHA:79241
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Renal hypoplasia, Periodic paralysis, Periodic hypokalemic pares...	ORPHA:37553
Scapuloperoneal Spinal Muscular Atrophy	Scoliosis, Hyperlordosis, Kyphosis	OMIM:181405
Stickler Syndrome, Type I	Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Kyphosis, Morbus Scheuermann, Platyspo...	OMIM:108300
Spondyloocular Syndrome	Osteopenia, Femur fracture, Decreased body weight, Arachnodactyly, Long fingers, Unsteady gait, O...	OMIM:605822
Mucolipidosis Type Ii	Abnormal long bone morphology, Inability to walk, Talipes equinovarus, Limitation of joint mobili...	ORPHA:576
Eosinophilic Gastroenteritis	Eosinophilia, Anemia, Leukocytosis, Weight loss	ORPHA:2070
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Hy...	OMIM:147891
Juvenile Polyposis Of Infancy	Short stature, Cachexia, Refractory anemia, Anemia	ORPHA:79076
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Incoordination, Tremor, Obesity, Unsteady gait, Ataxia, Abnormal pyramidal sign, O...	OMIM:614947
Typical Nemaline Myopathy	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Short neck	ORPHA:171436
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Platyspondyly, Scoliosis, Kyphosis, Abnormal curvature of the vertebral column, T...	ORPHA:93360
Microsporidiosis	Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Pneumonia, Osteomyelitis, Urethritis...	ORPHA:2552
Secondary Short Bowel Syndrome	Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Central hypothyroidism, Failure to th...	ORPHA:95427
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Scoliosis, Sacral dimple, Spina bifida occulta, Kyphosis	OMIM:618291
Neuroendocrine Tumor Of The Colon	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Elevated circulating hepatic transaminase co...	ORPHA:100080
Helsmoortel-Van Der Aa Syndrome	Gliosis, Facial palsy, Short stature, Failure to thrive, Obesity, Lateral ventricle dilatation, I...	OMIM:615873
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Scoliosis, Hyperlordosis, Kyphosis	OMIM:617821
Mucopolysaccharidosis Type 4	Scoliosis, Hyperlordosis, Kyphosis, Spinal canal stenosis, Platyspondyly, Short neck	ORPHA:582
X-Linked Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain, Short neck	ORPHA:98863
American Trypanosomiasis	Myocarditis, Skin rash, Periorbital edema, Edema, Infectious encephalitis	ORPHA:3386
Gallbladder Neuroendocrine Tumor	Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Weight loss, Elevated gam...	ORPHA:100086
Budd-Chiari Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Portal hypertension, Acute hep...	ORPHA:131
Srd5A3-Cdg	Abnormal sacrum morphology, Kyphosis	ORPHA:324737
Early Infantile Epileptic Encephalopathy	Short finger, Broad finger, Broad phalanx of the toes, Spasticity, Tremor, Cerebellar atrophy, Ep...	ORPHA:1934
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain	ORPHA:98855
Wieacker-Wolff Syndrome	Short neck, Scoliosis, Hyperlordosis, Kyphosis	OMIM:314580
Eosinophilic Granulomatosis With Polyangiitis	Arthritis, Gait disturbance, Hemiplegia/hemiparesis, Weight loss, Eosinophilia	ORPHA:183
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Lower-limb joint contracture, Peripheral axonal neuropathy, Reduced pancreatic beta cell...	ORPHA:99885
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal shoulder morphology, Anemia, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Abnorma...	ORPHA:85408
Fanconi Anemia	Reduced bone mineral density, Abnormal femur morphology, Leukopenia, Hypogonadism, Hip dislocatio...	ORPHA:84
Achondroplasia	Cervical spinal canal stenosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Lumbar h...	ORPHA:15
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Demyelinating peripheral neuropathy, Decreased ci...	ORPHA:99867
Immunodeficiency 37	Infectious encephalitis, Colitis	OMIM:616098
Encephalocraniocutaneous Lipomatosis	Cerebral atrophy, Hypertonia, Tetraplegia, Spasticity, Subcortical cerebral atrophy, Cerebral cor...	ORPHA:2396
Osteogenesis Imperfecta, Type Iv	Biconcave flattened vertebrae, Scoliosis, Kyphosis	OMIM:166220
Short Syndrome	Short palm, Weight loss, Brachydactyly, Joint hypermobility, Diabetes mellitus	ORPHA:3163
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Dumbbell-shaped long bone, Micromelia, Metaphyseal widening, Brachyda...	ORPHA:440354
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Developmental And Epileptic Encephalopathy 89	Hypertonia, Hyperkinetic movements, Spasticity, Cerebellar atrophy, Dystonia, Limb undergrowth, F...	OMIM:619124
Sialidosis Type 1	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:812
Osteogenesis Imperfecta, Type Iii	Biconcave vertebral bodies, Scoliosis, Kyphosis	OMIM:259420
Zygomycosis	Myocarditis, Fasciitis, Pancreatitis, Gastritis, Acute infectious pneumonia, Abnormal cranial ner...	ORPHA:73263
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Facial palsy, Sinusitis, Abnormal spinal cord morphology, Pustule, Hemipares...	ORPHA:68
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu...	ORPHA:158061
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Abnormal renal physiology, Glomerular sclerosis, Decreased number of large periph...	OMIM:223900
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Glomerular sclerosis, Elevated urina...	OMIM:276700
Pseudoachondroplasia	Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplasia of the odontoid process, Atlantoaxia...	OMIM:177170
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Leukocyto...	ORPHA:2902
Urban-Rogers-Meyer Syndrome	Short neck, Kyphosis	ORPHA:3409
Gitelman Syndrome	Urinary incontinence, Renal tubular acidosis, Renal potassium wasting, Focal segmental glomerulos...	ORPHA:358
Pelviscapular Dysplasia	Elbow flexion contracture, Hypoplastic ilia, Congenital hip dislocation, Humeroradial synostosis,...	ORPHA:93333
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Kyphosis	OMIM:617143
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Wide anterior fontanel, Short long bone, Bowing of the long bones,...	OMIM:249420
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Cachexia	ORPHA:1969
Inflammatory Bowel Disease (Crohn Disease) 1	Growth delay, Weight loss	OMIM:266600
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr...	ORPHA:449400
Congenital Tufting Enteropathy	Steatorrhea, Arthritis, Failure to thrive, Optic disc coloboma, Weight loss	ORPHA:92050
New-Onset Refractory Status Epilepticus	Global brain atrophy, Infectious encephalitis	ORPHA:363558
Atelosteogenesis, Type I	Fibular aplasia, Short finger, Fused cervical vertebrae, Short metatarsal, Rhizomelia, Multinucle...	OMIM:108720
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Broad-based gait, Hyperextensibility of the finger joints, Osteoporosis, Thin bony cortex, Long f...	OMIM:309583
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Anemia, Leukocytosis, Weight loss	ORPHA:90060
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Arthritis, Spontaneous pain sensation, M...	ORPHA:91139
Mucopolysaccharidosis, Type Ivb	Scoliosis, Hyperlordosis, Kyphosis, Ovoid vertebral bodies, Hypoplasia of the odontoid process, P...	OMIM:253010
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Sensory axonal neuropathy, Hyperkinetic movements, Gait disturbance	OMIM:620469
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Athetoid cerebral palsy, Inability to walk, Lower limb spasticity, Vocal ...	OMIM:617799
Fabry Disease	Delayed puberty, Anemia, Fasciculations, Abnormal autonomic nervous system physiology, Decreased ...	OMIM:301500
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Involuntary movements, Unsteady gait, Joint hypermobility, Short femur	OMIM:617798
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Short long...	ORPHA:1190
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Ataxia, Splenomegaly,...	ORPHA:158048
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, Cerebellar vermis hypoplasia, Tibial bowing, Postaxi...	OMIM:277170
Schaaf-Yang Syndrome	Scoliosis, Kyphosis	OMIM:615547
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Methylmalonic acidemia, Anemia, Pancytopenia, Tremor...	OMIM:251100
Thanatophoric Dysplasia Type 2	Platyspondyly, Kyphosis	ORPHA:93274
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Back pain	ORPHA:98853
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis	ORPHA:3121
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog...	ORPHA:2769
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Hypertonia, Spasticity, Cerebellar atrophy, Exaggerated startle response, Short humerus, Delayed ...	OMIM:618367
Orofaciodigital Syndrome Type 1	Tarsal synostosis, Reduced bone mineral density, Elevated circulating hepatic transaminase concen...	ORPHA:2750
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Q Fever	Myocarditis, Hematuria, Pleural effusion, Hepatitis, Pericarditis, Pericardial effusion, Osteomye...	ORPHA:781
Lynch Syndrome	Neoplasm of the thyroid gland, Hypertonia, Gait disturbance, Hemiplegia/hemiparesis, Pituitary ad...	ORPHA:144
Primary Sclerosing Cholangitis	Osteopenia, Jaundice, Elevated circulating hepatic transaminase concentration, Elevated alkaline ...	ORPHA:171
Fountain Syndrome	Scoliosis, Spina bifida occulta, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3219
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplasia of the corpus callosum, Failure to thrive, Gliosis	OMIM:617403
Al Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Increased circulating antibody level, Howe...	ORPHA:85443
Vipoma	Intrahepatic cholestasis, Increased circulating gonadotropin level, Normochromic anemia, Hypokale...	ORPHA:97282
Solitary Fibrous Tumor	Hypophosphatemic rickets, Weight loss, Hypoinsulinemia, Reduced C-peptide level	ORPHA:2126
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Scoliosis, Kyphosis, Hypoplastic vertebral bodies, Short neck	OMIM:230500
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Kyphosis	OMIM:615381
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Acute Adrenal Insufficiency	Delayed puberty, Hyperkalemia, Normocytic anemia, Orthostatic hypotension, Hyperuricemia, Adrenal...	ORPHA:95409
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri...	ORPHA:99829
Metachromatic Leukodystrophy	Tip-toe gait, Incoordination, Decerebrate rigidity, Tremor, Progressive spasticity, Frequent fall...	ORPHA:512
Familial Gestational Hyperthyroidism	Hand tremor, Weight loss	ORPHA:99819
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Sudanophilic leukodystrophy, Short humerus, Long toe, Clinodactyly, Genu va...	OMIM:264090
Ullrich Congenital Muscular Dystrophy 1A	Scoliosis, Kyphosis, Spinal rigidity	OMIM:254090
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Desbuquois Dysplasia 1	Scoliosis, Hyperlordosis, Kyphosis, Platyspondyly, Short neck	OMIM:251450
Chikungunya	Peripheral nerve compression, Neuritis, Pedal edema, Arthritis, Skin rash, Synovitis, Enthesitis,...	ORPHA:324625
Polycythemia Vera	Acute leukemia, Myelofibrosis, Leukocytosis, Portal hypertension, Polycythemia, Splenomegaly, Wei...	ORPHA:729
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Increased circulating antibody level, ...	ORPHA:723
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Decreased liver function, Osteopenia, Reduced bone mineral density, Elevated circulating...	OMIM:613658
Cole-Carpenter Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2050
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Prolonged neonatal...	OMIM:210710
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Short stature, Ataxi...	ORPHA:314679
Neuroendocrine Tumor Of The Rectum	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Elevated circulating hepatic transaminase co...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Carcinoid tumor, Atypical pulmonary carcinoid tumor, Elevated circulating hepatic transaminase co...	ORPHA:100082
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Scoliosis, Kyphosis	OMIM:301041
Cystinosis, Nephropathic	Rickets, Delayed puberty, Hypophosphatemic rickets, Male hypogonadism, Genu valgum, Hypokalemia, ...	OMIM:219800
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Neuroendocrine Tumor Of Stomach	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Atypical pulmona...	ORPHA:100075
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Difficulty walking, Elevated circulating hepatic transaminase concentration...	OMIM:610717
3M Syndrome	Increased vertebral height, Scoliosis, Hyperlordosis, Kyphosis, Short neck	ORPHA:2616
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Thrombocytopenia, Muscle w...	OMIM:222700
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Diets-Jongmans Syndrome	Short stature, Gliosis, Thick corpus callosum	OMIM:618846
Insensitivity To Pain, Congenital, With Anhidrosis	Autoamputation of digits, Abnormal autonomic nervous system physiology, Osteomyelitis, Pain insen...	OMIM:256800
Spondyloarthropathy, Susceptibility To, 1	Back pain, Sacroiliac arthritis, Kyphosis	OMIM:106300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Caudal interpedicular narrowing, Scoliosis, Kyphosis, Posterior scalloping of vertebral bodies, I...	OMIM:603546
Epidermal Nevus Syndrome	Osteopenia, Babinski sign, Hypertonia, Progressive spastic paraparesis	ORPHA:35125
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper co...	OMIM:620306
Immunodeficiency 31C	Osteopenia, Autoimmune hemolytic anemia, Delayed puberty, Impaired lymphocyte transformation with...	OMIM:614162
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Clubbing, Weight loss	ORPHA:79127
Reynolds Syndrome	Keratoconjunctivitis sicca, Arthritis, Skin rash, Xerostomia, Ascites, Infectious encephalitis	ORPHA:779
Crigler-Najjar Syndrome	Infectious encephalitis	ORPHA:205
Kaposi Sarcoma	Abnormality of the spleen, Weight loss	ORPHA:33276
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Anemia, Decreased circulating ...	ORPHA:85450
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula...	ORPHA:103910
Liposarcoma	Weight loss	ORPHA:69078
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Zollinger-Ellison Syndrome	Glucagonoma, Jaundice, Neuroendocrine neoplasm, Elevated circulating parathyroid hormone level, A...	ORPHA:913
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Eales Disease	Spastic paraparesis, Optic disc pallor	ORPHA:40923
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Microcephaly, Focal polymicrogyria, Partial agenesis of the corpus callosum, Dysplastic corpus ca...	OMIM:619103
Cap Polyposis	Weight loss	ORPHA:160148
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Short femur, Foot oligodactyly, Holoprosencephaly	OMIM:601357
Caroli Disease	Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concentration, Live...	ORPHA:53035
Incontinentia Pigmenti	Spina bifida occulta, Skin rash, Spasticity, Gait disturbance, Cerebral cortical atrophy, Hemiple...	ORPHA:464
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis	ORPHA:420794
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Flat acet...	OMIM:211350
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Scoliosis, Hyperlordosis, Kyphosis	OMIM:618443
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Short neck	ORPHA:2789
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Broad thumb, Obesity, Weight loss, Broad hallux phalanx, Tapered finger	ORPHA:251071
Medullary Thyroid Carcinoma	Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Nod...	ORPHA:1332
15Q24 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:94065
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis	OMIM:608776
Dysostosis, Stanescu Type	Short neck, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:1798
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Leu...	ORPHA:67
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Harrod Syndrome	Scoliosis, Kyphosis	ORPHA:2115
Mucopolysaccharidosis, Type Vii	Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis, Hypoplasia of the odont...	OMIM:253220
Norrie Disease	Delayed puberty, Optic atrophy, Hypertonia, Cachexia, Clonus, Microcephaly, Cerebral cortical atr...	ORPHA:649
Marfan Syndrome	Cachexia, Slender build, Dural ectasia	ORPHA:558
Mucopolysaccharidosis Type 6	Short neck, Ovoid vertebral bodies, Kyphosis	ORPHA:583
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Diaphyseal dysplasia, Optic nerve compression, Optic neuropathy, Broad ischia, Bro...	OMIM:619727
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in females, Abnormal circ...	ORPHA:90794
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Recurrent urinary tract infections, Ent...	OMIM:307200
Shashi-Pena Syndrome	Scoliosis, Cervical C2/C3 vertebral fusion, Kyphosis	OMIM:617190
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of the odontoid p...	OMIM:223800
Pontocerebellar Hypoplasia, Type 17	Kyphosis	OMIM:619909
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Recurrent urinary tract infections, Chronic mucocutaneous candidiasis, Viral hepatit...	OMIM:209920
Cysticercosis	Upper motor neuron dysfunction, Spinal arachnoid cyst, Ataxia, Iridocyclitis, Spinal cord lesion,...	ORPHA:1560
Pelger-Huet Anomaly	Kyphosis	OMIM:169400
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Autoimmune Pulmonary Alveolar Proteinosis	Increased circulating lactate dehydrogenase concentration, Clubbing, Weight loss, Abnormal circul...	ORPHA:747
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis	ORPHA:1005
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Acro-Renal-Mandibular Syndrome	Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Short neck	ORPHA:958
Trisomy 13	Scoliosis, Kyphosis	ORPHA:3378
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Steatorrhea, Iron deficiency anemia, Osteoporosis, Weight loss, Osteomalacia	ORPHA:309031
Somatostatinoma	Steatorrhea, Intrahepatic cholestasis, Hypochromic microcytic anemia, Increased circulating gonad...	ORPHA:97283
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphope...	ORPHA:99889
Fliedner-Zweier Syndrome	Scoliosis, Kyphosis	OMIM:620511
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Bradycardia	ORPHA:226307
19P13.12 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:254346
Holt-Oram Syndrome	Scoliosis, Kyphosis	ORPHA:392
Lambert-Eaton Myasthenic Syndrome	Progressive proximal muscle weakness	ORPHA:43393
Amyotrophy, Monomelic	Fasciculations	OMIM:602440
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Kyphosis	ORPHA:404440
X-Linked Intellectual Disability Due To Gria3 Mutations	Scoliosis, Kyphosis	ORPHA:364028
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Failure to thrive, Clubbing, Weight loss	ORPHA:79128
Castleman Disease	Jaundice, Anemia, Elevated circulating C-reactive protein concentration, Myelofibrosis, Thrombocy...	ORPHA:160
Cole-Carpenter Syndrome 2	Platyspondyly, Kyphosis	OMIM:616294
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Spina bifida occulta, Microcephaly, Failure to thrive, Cerebral corti...	OMIM:151050
3C Syndrome	Short neck, Scoliosis, Hemivertebrae, Kyphosis	ORPHA:7
Hutchinson-Gilford Progeria Syndrome	Reduced bone mineral density, Progressive clavicular acroosteolysis, Severe failure to thrive, Pu...	ORPHA:740
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Kyphosis	OMIM:617061
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Anemia, Elevated circulating C-reactive ...	ORPHA:50918
Hurler Syndrome	Recurrent otitis media, Abnormal CNS myelination, Dermatan sulfate excretion in urine, Neurodegen...	OMIM:607014
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia	OMIM:614437
Spondyloperipheral Dysplasia	Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platyspondyly, Short neck	OMIM:271700
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Klatskin Tumor	Jaundice, Weight loss	ORPHA:99978
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Marden-Walker Syndrome	Short neck, Scoliosis, Kyphosis	OMIM:248700
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Yao Syndrome	Arthritis, Weight loss	OMIM:617321
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Microcephaly, Spasticity, Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:618569
Ppoma	Intrahepatic cholestasis, Increased circulating gonadotropin level, Adrenocortical adenoma, Inter...	ORPHA:97278
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Decreased circulating total IgM, Anemia, Elevated circulating C-...	OMIM:619381
Hurler-Scheie Syndrome	Scoliosis, Kyphosis	OMIM:607015
Cockayne Syndrome Type 2	Scoliosis, Kyphosis	ORPHA:90322
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Stickler Syndrome	Short stature, Cachexia, Slender build, Hemiplegia/hemiparesis	ORPHA:828
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl...	OMIM:608328
Emanuel Syndrome	Scoliosis, Sacral dimple, Kyphosis	OMIM:609029
Glucagonoma	Steatorrhea, Intrahepatic cholestasis, Increased circulating gonadotropin level, Normochromic ane...	ORPHA:97280
Grfoma	Intrahepatic cholestasis, Increased circulating gonadotropin level, Adrenocortical adenoma, Pheoc...	ORPHA:97261
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Difficulty walking	OMIM:619482
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Genitopalatocardiac Syndrome	Scoliosis, Kyphosis	ORPHA:2075
Trisomy 20P	Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Kyphosis, Platys...	ORPHA:261318
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Fucosidosis	Anterior beaking of lumbar vertebrae, Kyphosis	ORPHA:349
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Graft Versus Host Disease	Failure to thrive, Hepatosplenomegaly, Hemophagocytosis	ORPHA:39812
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Joint stiffness, Brachydactyly,...	OMIM:277600
Postpoliomyelitis Syndrome	Fasciculations	ORPHA:2942
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Pancytopenia, Arthritis, Bone cyst, Clubbing, Optic neuropa...	OMIM:181000
Pituitary Adenoma 4, Acth-Secreting	Biconcave vertebral bodies, Vertebral compression fracture, Kyphosis	OMIM:219090
Zttk Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Dysplastic corpus callosum, Opti...	OMIM:617140
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Cervical spinal canal stenosis, Sacral dimple, Cervical instability, Increased intervertebral spa...	ORPHA:508533
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis	OMIM:177850
Lateral Meningocele Syndrome	Scoliosis, Kyphosis, Biconcave vertebral bodies, Short neck, Vertebral fusion	OMIM:130720
Mucolipidosis Iii Alpha/Beta	Scoliosis, Spondylolisthesis, Kyphosis	OMIM:252600
Koolen-De Vries Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis, Vertebral fusion	ORPHA:96169
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microcephaly, Failure to thrive, Intrauterine growth retardation, Delayed peripheral myelination	ORPHA:364577
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Large for gestational age, Slender long bone, Hypoplastic pelvis, Thin b...	OMIM:612731
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Scoliosis, Kyphosis	OMIM:619951
Nijmegen Breakage Syndrome	Recurrent otitis media, Recurrent urinary tract infections, Glioma, Sinusitis, Recurrent pneumoni...	OMIM:251260
Nephroblastoma	Weight loss	ORPHA:654
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Ovoid vertebral bodies, Thoracol...	OMIM:618019
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Scoliosis, Kyphosis	OMIM:619557
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:763
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Weight loss	ORPHA:764
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ...	OMIM:259770
Nodular Non-Suppurative Panniculitis	Splenomegaly, Weight loss	ORPHA:33577
Granulomatosis With Polyangiitis	Granulomatosis, Weight loss	OMIM:608710
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Hammertoe, Sandal gap, Dandy-Walker malformation, Contracture of th...	OMIM:300166
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Lumbar hyperlordosis, Kyphosis	OMIM:616482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Thyroiditis, Chronic mucocutaneous candidiasis, Renal artery stenosis, Eczematoid dermatitis, Fun...	ORPHA:391487
Parathyroid Carcinoma	Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Primary...	ORPHA:143
Megalocornea-Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:2479
Microphthalmia, Lenz Type	Scoliosis, Hyperlordosis, Kyphosis	ORPHA:568
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis	OMIM:610915
Alkaptonuria	Low back pain, Intervertebral disk degeneration, Kyphosis, Vertebral fusion	OMIM:203500
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Weight loss, Decreased p...	OMIM:301074
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Delayed puberty, Tremor, Speech apraxia, Slender build, Ataxia, Thick...	OMIM:300967
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Prostatitis, Recurrent urinary tract infections, Enteroviral he...	OMIM:300755
Cowden Syndrome 5	Scoliosis, Kyphosis	OMIM:615108
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression, Distal renal tubular acidosis	OMIM:259730
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Kyphosis	OMIM:616449
Campomelic Dysplasia	Short neck, Scoliosis, Poorly ossified cervical vertebrae, Kyphosis	ORPHA:140
Micro Syndrome	Scoliosis, Kyphosis	ORPHA:2510
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Scoliosis, Kyphosis	OMIM:618493
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Spinal canal stenos...	ORPHA:1724
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum	ORPHA:363444
Acrodermatitis Enteropathica	Cerebral cortical atrophy, Failure to thrive, Weight loss, Short stature	ORPHA:37
Friedreich Ataxia 2	Babinski sign, Incoordination, Abnormal medulla oblongata morphology, Ataxia, Abnormality of peri...	OMIM:601992
Cowden Syndrome 6	Scoliosis, Kyphosis	OMIM:615109
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, H...	ORPHA:49041
Coffin-Lowry Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:192
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Scoliosis, Kyphosis, Vertebral fusion	OMIM:610443
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Scoliosis, Kyphosis	OMIM:619718
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Pineoblastoma	Paralysis, Papilledema	ORPHA:251909
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:233710
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Delayed puberty, Intention tremor,...	ORPHA:466791
Multiple Pterygium-Malignant Hyperthermia Syndrome	Scoliosis, Kyphosis	ORPHA:2215
Pancreatoblastoma	Jaundice, Weight loss	ORPHA:677
Proteus Syndrome	Thymus hyperplasia, Cachexia, Splenomegaly	ORPHA:744
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Small intestine ...	ORPHA:100078
Distal Triplication 15Q	Scoliosis, Kyphosis	ORPHA:314588
Postinfectious Vasculitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Abno...	ORPHA:48435
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:233690
Nocardiosis	Scleritis, Thyroiditis, Pleural effusion, Lymphadenitis, Pericarditis, Keratitis, Peritonitis, Co...	ORPHA:31204
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Ischemic stroke, Dysplastic corp...	ORPHA:500150
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Scoliosis, Hemivertebrae, Kyphosis	OMIM:301040
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Anemia, Acute hepatic failure, Thrombocy...	ORPHA:36426
Juvenile Dermatomyositis	Calcinosis, Elevated circulating C-reactive protein concentration, Arthritis, Limitation of joint...	ORPHA:93672
Congenital Heart Defects And Skeletal Malformations Syndrome	Scoliosis, Kyphosis	OMIM:617602
16Q24.3 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261250
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Diabetes insipidus, Abnormality of the hyp...	ORPHA:900
Noonan Syndrome 14	Short neck, Kyphosis	OMIM:619745
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Anemia, Acute hepatic failure, Thrombocy...	ORPHA:537
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Kyphosis	ORPHA:500055
Systemic Lupus Erythematosus	Arthritis, Chorea, Thrombocytopenia, Leukopenia, Weight loss, Hemolytic anemia	ORPHA:536
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Sarcoidosis	Decreased liver function, Abnormality of the adrenal glands, Anemia, Diabetes insipidus, Bone cys...	ORPHA:797
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Peritoneal abscess, Hepatosple...	ORPHA:1333
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
2P15P16.1 Microdeletion Syndrome	Scoliosis, Kyphosis	ORPHA:261349
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Maternal diabetes, Talipes equinovarus, ...	OMIM:134780
Malignant Atrophic Papulosis	Weight loss, Muscle flaccidity	ORPHA:679
Igg4-Related Kidney Disease	Decreased liver function, Abnormality of the anterior pituitary, Elevated circulating C-reactive ...	ORPHA:449395
Multiple Endocrine Neoplasia, Type Iib	Scoliosis, Hyperlordosis, Kyphosis	OMIM:162300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:476126
Tropical Endomyocardial Fibrosis	Eosinophilia, Cachexia, Splenomegaly	ORPHA:75565
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Scoliosis, Hemivertebrae, Kyphosis	OMIM:618223
H Syndrome	Histiocytosis, Microcytic anemia, Hepatosplenomegaly	ORPHA:168569
Cowden Syndrome 1	Scoliosis, Kyphosis	OMIM:158350
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Rectal abscess, Granuloma, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:306400
2Q31.1 Microdeletion Syndrome	Short neck, Scoliosis, Vertebral segmentation defect, Kyphosis	ORPHA:251014
Multiple Pterygium Syndrome, Escobar Variant	Anterior clefting of vertebral bodies, Fused cervical vertebrae, Scoliosis, Kyphosis, Thoracolumb...	OMIM:265000
Pulmonary Alveolar Microlithiasis	Increased circulating surfactant protein level, Stippled calcification in carpal bones, Weight lo...	ORPHA:60025
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Spina bifida occulta, Short hallux, Optic ner...	ORPHA:508488
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Shprintzen Omphalocele Syndrome	Scoliosis, Lumbar hyperlordosis, Kyphosis	OMIM:182210
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Scoliosis, Kyphosis	OMIM:301111
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sacral dimple, Kyphosis, Thoracic scoliosis	ORPHA:536532
Marshall-Smith Syndrome	Kyphoscoliosis, Atlantoaxial dislocation, Scoliosis, Thoracic kyphosis, Kyphosis, Hypoplasia of t...	OMIM:602535
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Impaired pain sensation, Hyperlipidemia, Enuresis, Ganglioneuroma, Infectious encephalitis	ORPHA:293987
Cohen Syndrome	Scoliosis, Kyphosis	ORPHA:193
Spondyloenchondrodysplasia	Platyspondyly, Kyphosis	ORPHA:1855
Witteveen-Kolk Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Cortical dysplasia, Poor motor coo...	OMIM:613406
Cdags Syndrome	Kyphosis	OMIM:603116
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Robinow Syndrome, Autosomal Dominant 3	Short neck, Scoliosis, Sacral dimple, Kyphosis	OMIM:616894
Rat-Bite Fever	Anemia, Arthritis, Weight loss, Septic arthritis, Oligoarthritis	ORPHA:31205
Catel-Manzke Syndrome	Genu valgum, Clinodactyly of the 5th finger, Short metacarpal, Camptodactyly, Ulnar deviation of ...	OMIM:616145
Weaver Syndrome	Scoliosis, Kyphosis	OMIM:277590
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Posterior scalloping of vertebral bod...	ORPHA:3042
Tropical Pancreatitis	Jaundice, Weight loss	ORPHA:103918
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Kyphosis	ORPHA:464738
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis	OMIM:616914
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of cor...	OMIM:618820
Intellectual Developmental Disorder, Autosomal Dominant 57	Scoliosis, Kyphosis	OMIM:618050
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity	OMIM:619426
Renal Nutcracker Syndrome	Orthostatic hypotension, Anemia, Abnormal autonomic nervous system physiology, Weight loss	ORPHA:71273
Mgat2-Cdg	Scoliosis, Kyphosis	ORPHA:79329
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Intervertebral space narrowing, Scoliosis, Kyphosis, Narrow vertebral interpedicu...	OMIM:143095
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Scoliosis, Hyperlordosis, Kyphosis	OMIM:617011
Monosomy 9Q22.3	Short neck, Kyphosis, Abnormality of the vertebral column	ORPHA:77301
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Elevated circulating aldolase concentrat...	ORPHA:221
Magel2-Related Prader-Willi-Like Syndrome	Scoliosis, Kyphosis	ORPHA:398069
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Scoliosis, Kyphosis	OMIM:619005
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Thyroiditis, Increased circulating IgA level, Nodular goiter, Increased ...	ORPHA:79078
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis	OMIM:617527
Plaa-Associated Neurodevelopmental Disorder	Kyphosis	ORPHA:521426
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Hypertonia, Fasciculations, Spasticity, Involuntary movements, Olivopontocerebella...	ORPHA:284339
Atelis Syndrome 2	Sacral dimple, Kyphosis	OMIM:620185
Reactive Arthritis	Arthritis, Joint stiffness, Enthesitis, Weight loss, Osteomyelitis	ORPHA:29207
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Failure to thrive, Leukopenia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:470
Ramon Syndrome	Scoliosis, Kyphosis	OMIM:266270
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Anemia, Clinodactyly of the 5th finger, Elliptocytosis, Joint hyp...	OMIM:300990
Hermansky-Pudlak Syndrome	Weight loss, Neutropenia	ORPHA:79430
Intellectual Developmental Disorder, Autosomal Dominant 73	Scoliosis, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Lumbar hyperlordosis	OMIM:620450
Prader-Willi Syndrome	Scoliosis, Kyphosis	OMIM:176270
Histiocytosis-Lymphadenopathy Plus Syndrome	Histiocytosis, Splenomegaly, Hepatosplenomegaly	OMIM:602782
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hyperkinetic movements, Hypocalcemia, Myoclonic spasms, Hypomagnesemia, Hyperaldosteronism, Hypoc...	ORPHA:73224
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal vertebral morphology, Abnormal form of the vertebral bodies, Abnormality ...	ORPHA:280
Aspartylglucosaminuria	Abnormal cortical bone morphology, Arthritis, Joint stiffness, Abnormal morphology of ulna, Splen...	ORPHA:93
Autosomal Recessive Robinow Syndrome	Sacral dimple, Scoliosis, Vertebral segmentation defect, Kyphosis, Short neck	ORPHA:1507
Malt Lymphoma	Anemia, Weight loss	ORPHA:52417
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis	OMIM:619708
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Scoliosis, Abnormality of the cervical spine, Kyphosis	ORPHA:464311
Hajdu-Cheney Syndrome	Scoliosis, Kyphosis, Biconcave vertebral bodies, Hypoplastic 5th lumbar vertebrae, Short neck	ORPHA:955
Primary Sjögren Syndrome	Normocytic anemia, Normochromic anemia, Chorea, Abnormal spinal cord morphology, Decreased propor...	ORPHA:289390
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Scoliosis, Kyphosis	ORPHA:394
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Scoliosis, Kyphosis	OMIM:619194
Dyrk1A-Related Intellectual Disability Syndrome	Scoliosis, Abnormality of the cervical spine, Kyphosis	ORPHA:464306
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Elevated circulating...	ORPHA:91500
Cleidocranial Dysplasia 1	Scoliosis, Spondylolysis, Spondylolisthesis, Kyphosis	OMIM:119600
Poland Syndrome	Spina bifida occulta, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Kyphosis, Short neck	ORPHA:2911
Marden-Walker Syndrome	Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2461
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Kyphosis	ORPHA:2232
Koolen-De Vries Syndrome Due To A Point Mutation	Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:363958
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Lumbar hyperlordosis, Kyphosis	ORPHA:457359
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Kyphosis	ORPHA:3063
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis, Platyspondyly	OMIM:208400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Alstrom Syndrome	Scoliosis, Kyphosis	OMIM:203800
Smith-Lemli-Opitz Syndrome	Short neck, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:818
Chronic Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Pancytopenia, Arthritis, Flexion contrac...	ORPHA:99921
Holt-Oram Syndrome	Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non...	OMIM:142900
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Mend Syndrome	Sacral dimple, Kyphosis	ORPHA:401973
Mend Syndrome	Sacral dimple, Kyphosis	OMIM:300960
Occipital Horn Syndrome	Platyspondyly, Kyphosis	OMIM:304150
Occipital Horn Syndrome	Platyspondyly, Scoliosis, Kyphosis	ORPHA:198
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Scoliosis, Kyphosis	ORPHA:534
Spondyloepimetaphyseal Dysplasia, X-Linked	Kyphosis, Anterior wedging of T12, Hypoplasia of the odontoid process, Platyspondyly, Anterior we...	OMIM:300106
Cowden Syndrome	Scoliosis, Kyphosis	ORPHA:201
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Vertebral fusion	OMIM:194190
Limb Body Wall Complex	Abnormal spinal cord morphology, Anencephaly, Spina bifida occulta, Spina bifida	ORPHA:2369
Coffin-Lowry Syndrome	Scoliosis, Lumbar kyphosis, Kyphosis	OMIM:303600
1P36 Deletion Syndrome	Spinal canal stenosis, Scoliosis, Kyphosis	ORPHA:1606
Tetrasomy 9P	Polymicrogyria, Abnormal spinal cord morphology, Pachygyria, Intrauterine growth retardation, Lis...	ORPHA:3310
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Scoliosis, Kyphosis	OMIM:309000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Platyspondyly, Abnormal vertebral morphology, Kyphosis, Abnormality of the vertebral column	ORPHA:2273
Williams Syndrome	Sacral dimple, Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordo...	ORPHA:904
Somatomammotropinoma	Spinal canal stenosis, Kyphosis	ORPHA:314769
Acromegaly	Spinal canal stenosis, Kyphosis	ORPHA:963
Coffin-Siris Syndrome 1	Scoliosis, Sacral dimple, Spina bifida occulta, Kyphosis	OMIM:135900
Turner Syndrome Due To Structural X Chromosome Anomalies	Short neck, Scoliosis, Kyphosis	ORPHA:99413
Mosaic Monosomy X	Short neck, Scoliosis, Kyphosis	ORPHA:99228
Monosomy X	Short neck, Scoliosis, Kyphosis	ORPHA:99226
Turner Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:881
Neurofibromatosis Type 1	Scoliosis, Kyphosis	ORPHA:636
17Q11 Microdeletion Syndrome	Scoliosis, Beaking of vertebral bodies T12-L3, Kyphosis, Abnormality of the vertebral column	ORPHA:97685
Wrinkly Skin Syndrome	Scoliosis, Kyphosis	OMIM:278250
Goodpasture Syndrome	Increased blood urea nitrogen, Anemia, Weight loss	OMIM:233450
Primrose Syndrome	Neurodegeneration, Ataxia, Elevated circulating alpha-fetoprotein concentration	OMIM:259050
Viss Syndrome	Butterfly vertebrae, Scoliosis, Kyphosis	OMIM:619472
Branchiooculofacial Syndrome	Short neck, Hyperlordosis, Kyphosis	OMIM:113620
Sotos Syndrome	Scoliosis, Abnormal vertebral morphology, Kyphosis, Sacrococcygeal teratoma	ORPHA:821
Yunis-Varon Syndrome	Kyphosis, Anterior concavity of thoracic vertebrae	OMIM:216340
Alström Syndrome	Lumbar scoliosis, Kyphosis, Thoracic 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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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)	Galc^{tm1b(KOMP)Wtsi}	PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.	NPJ systems biology and applications (May 2021)	Galc^{tm1b(KOMP)Wtsi}	PMC8163790

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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
Galc^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Galc^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Galc^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Galc MGI:95636

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Combined SHIRPA and Dysmorphology

Eye Morphology

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

X-ray

Eye Morphology

Human diseases caused by Galc mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data