banner
Genes Phenotypes Help, News, Blog

Gene: Galc MGI:95636

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images
X-ray

XRay Images Hind Leg and Hip

14 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images
X-ray

XRay Images Skull Lateral Orientation

14 Images

View images
Eye Morphology

Images Ophthalmoscopy

1 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
Combined SHIRPA and Dysmorphology

Images

2 Images

View images
Eye Morphology

Images Slit Lamp

3 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images

Human diseases caused by Galc mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Optic Atrophy 2
Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spastic Paraplegia 24, Autosomal Recessive
Spastic paraplegia, Spasticity, Clonus, Tip-toe gait OMIM:607584
Spastic Paraplegia 72B, Autosomal Recessive
Spasticity, Difficulty walking, Gait ataxia, Babinski sign, Spastic gait OMIM:620606
Early-Onset Generalized Limb-Onset Dystonia
Gait disturbance, Hypertonia ORPHA:256
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Spinocerebellar Ataxia Type 15/16
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... ORPHA:98769
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spastic paraplegia, 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
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Abasia, Ataxia OMIM:209100
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Decreased... ORPHA:280234
Episodic Ataxia With Slurred Speech
Gait ataxia, Tremor, Slurred speech ORPHA:401953
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... OMIM:616053
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Babinski sign, Gait disturbance, Torticollis, Focal dyst... OMIM:620456
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... ORPHA:98765
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Rigidity, Hypertonia, Ataxia ORPHA:2672
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Intention tremor, Episodic ataxia OMIM:616055
Autosomal Recessive Spastic Paraplegia Type 24
Spastic paraplegia, Spasticity, Tip-toe gait, Scissor gait, Clonus ORPHA:101004
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Hand tremor, Tip-toe gait, Incoord... OMIM:302800
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Dystonia 27
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... OMIM:616411
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia ORPHA:85292
Primary Dystonia, Dyt27 Type
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Axial dystonia, Action tremor, Oro... ORPHA:464440
Spastic Paraplegia 72A, Autosomal Dominant
Spastic paraplegia, Spasticity, Tip-toe gait, Impaired vibration sensation in the lower limbs, Ho... OMIM:615625
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor ORPHA:94122
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, I... OMIM:617672
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait ORPHA:401840
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Spinocerebellar Ataxia Type 23
Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Impaired dista... ORPHA:101108
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor ORPHA:217012
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Hyperlipidemia, Distal sensory impairment, Decreased number of perip... OMIM:604484
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Muscle weakness ORPHA:139436
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... OMIM:614561
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor, Ataxia OMIM:617018
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Episodic Kinesigenic Dyskinesia 2
Dystonia, Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Cogwheel rigidity, Gait ataxia, Peripheral axonal neuropa... ORPHA:497764
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, ... OMIM:607734
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Spinocerebellar Ataxia Type 38
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor ORPHA:423296
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Decreased motor nerve co... OMIM:614895
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Autosomal Recessive Spastic Paraplegia Type 32
Progressive spastic paraplegia, Difficulty walking, Babinski sign, Cerebellar cortical atrophy, A... ORPHA:171622
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Decreased motor nerve conduction velocity... OMIM:180800
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Spinocerebellar Ataxia Type 5
Incoordination, Gait disturbance, Slurred speech ORPHA:98766
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia OMIM:612437
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Tremor, Hereditary Essential, 6
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor OMIM:618866
Autosomal Spastic Paraplegia Type 58
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Frequent falls, Fasciculations, P... ORPHA:397946
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Spasticity, Failure to thrive, Tetraparesis, Astrocytosis, Cogwheel rigidity, Myoc... ORPHA:225154
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... OMIM:615157
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Chorea, Benign Hereditary
Chorea, Gait disturbance, Frequent falls OMIM:118700
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Dysdiadochokinesis, Cerebral palsy OMIM:605388
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... ORPHA:401820
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor OMIM:611092
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Hand tremor, Difficulty walking, Peripheral demyelination, Decreased compound muscle action poten... 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, Myoclonus, Morning myoclonic jerks, Ataxia, Intention tremor ORPHA:308
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa... OMIM:615957
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Episodic Kinesigenic Dyskinesia 3
Dystonia, Involuntary movements, Choreoathetosis, Torticollis OMIM:620245
Spinocerebellar Ataxia, Autosomal Recessive 25
Truncal ataxia, Babinski sign, Dysmetria, Ataxia OMIM:617584
Spinocerebellar Ataxia 41
Unsteady gait, Gait ataxia, Ataxia OMIM:616410
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Spinocerebellar Ataxia Type 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Pontocerebella... ORPHA:423275
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Abnormal midbrain morphology, Abnorma... ORPHA:206448
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... OMIM:214400
Spinocerebellar Ataxia Type 41
Gait ataxia ORPHA:458798
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Axonal degeneration/regener... OMIM:609260
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Primary Dystonia, Dyt13 Type
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... ORPHA:98807
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral demyelination, Axonal degeneration/regeneration, Peripheral axonal neuropathy, Steppag... OMIM:620378
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormality of extrapyr... ORPHA:100070
Autosomal Spastic Paraplegia Type 30
Somatic sensory dysfunction, Progressive spastic paraplegia, Distal sensory impairment, Babinski ... ORPHA:101010
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy DECIPHER:59
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, T... ORPHA:276193
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... 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
Hypoalbuminemia, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Axonal degeneratio... OMIM:208920
Multifocal Motor Neuropathy
Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Fasciculat... ORPHA:641
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Cerebral atrophy, Abnormal upper m... OMIM:221770
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Cerebellar atrophy, Progressive spastic paraparesis, Peripheral axonal neuropathy,... ORPHA:496756
Urocanase Deficiency
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia OMIM:276880
Dystonia 23
Head tremor, Limb dystonia, Myoclonus, Axial dystonia, Gait disturbance, Torticollis, Writer's cramp OMIM:614860
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Difficulty walking, Axonal degeneration/regeneration, Steppage gait, Segmental peripheral demyeli... OMIM:606483
Striatal Degeneration, Autosomal Dominant 1
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... OMIM:601098
Spinocerebellar Ataxia Type 37
Falls, Somatic sensory dysfunction, Myoclonus, Cogwheel rigidity, Tremor, Limb dysmetria, Gait di... ORPHA:363710
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axonal degeneration/rege... OMIM:614436
Spinocerebellar Ataxia 35
Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss of ambulation, Babins... OMIM:613908
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... ORPHA:210571
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal ataxia, Unsteady gait,... OMIM:616948
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Tremor, Fasciculations OMIM:182980
Paroxysmal Extreme Pain Disorder
Tachycardia, Impaired pain sensation, Bradycardia OMIM:167400
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron morpho... OMIM:105550
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:118210
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
Abnormal nerve conduction velocity, Falls, Difficulty walking, Decreased nerve conduction velocit... ORPHA:2932
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... OMIM:182815
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Abnormal cereb... OMIM:169500
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Bradykinesia, Laryngeal dystonia, Gait ataxia, Abnormal pyramidal sig... ORPHA:101110
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H... ORPHA:2386
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Neuromyelitis Optica Spectrum Disorder
Myelitis, Functional abnormality of the bladder, Somatic sensory dysfunction, Paraplegia, Periphe... ORPHA:71211
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Focal Cortical Dysplasia, Type Ii
Hemimegalencephaly, Astrocytosis, Focal cortical dysplasia type II, Focal white matter lesions, H... OMIM:607341
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, B... OMIM:249900
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Gait ataxia, Abnormal cerebellar cortex morphology, Babinski sign, De... ORPHA:101111
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Sandhoff Disease, Adult Form
Spasticity, Sensory axonal neuropathy, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dysto... ORPHA:309169
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Difficulty walking, Peripheral axonal neuropathy, Babinski sig... OMIM:615035
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Tremor, Paraparesis, Gait disturbance, Ataxia ORPHA:99014
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Peripheral hypomy... OMIM:611228
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:615268
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelinati... ORPHA:101097
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Ankle weakness, Foot dorsiflexor weakness, Generalized m... ORPHA:98912
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... OMIM:601596
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia, Ataxia, Dystonia OMIM:618093
Intellectual Developmental Disorder, Autosomal Recessive 77
Head tremor, Unsteady gait OMIM:619988
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Tongue fasciculations, Broad-based gait, Decreased motor nerve conduc... OMIM:145900
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Fasciculations, Postural tremor, Proximal muscle weakness, Progres... OMIM:608627
Choreoathetosis, Familial Inverted
Gait disturbance, Abnormal pyramidal sign, Progressive choreoathetosis, Rigidity OMIM:118750
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Clumsiness, Truncal ataxia, Unsteady gait, Spastic dysarthria, Frequent falls, Int... ORPHA:314978
Autosomal Spastic Paraplegia Type 72
Spastic gait, Postural tremor, Impaired vibration sensation at ankles, Rigidity ORPHA:401849
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Dystonia 11, Myoclonic
Myoclonus, Writer's cramp, Tremor, Torticollis OMIM:159900
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Hypoplasia of the pons, Motor axonal neuropathy, Decreased number of p... OMIM:620542
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Vocal cord paralysis OMIM:162500
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss, Dystonia OMIM:616684
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait... OMIM:607458
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Dystonia, Myoclonus, Tremor, Frequent falls OMIM:619647
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function,... ORPHA:275872
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Spinocerebellar Ataxia 31
Limb ataxia, Gait ataxia, Ataxia OMIM:117210
Distal Anoctaminopathy
Distal lower limb muscle weakness, Proximal muscle weakness in upper limbs, Progressive muscle we... ORPHA:399096
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Spastic dysarthria, Progressive spastic paraplegia, Hand tremor, Lower... ORPHA:401830
Spinocerebellar Ataxia 23
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... OMIM:610245
Mast Syndrome
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Incoordination, Ba... OMIM:248900
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Cerebellar atrophy, Fasciculations, Myoclonus, Gait ataxia, Tremor, Peripheral axonal... OMIM:607317
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Spasticity, Hypoplasia of the corpus callosum, Microcephaly, Delayed C... OMIM:614959
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Spinocerebellar Ataxia Type 12
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abn... ORPHA:98762
Oculopharyngodistal Myopathy
Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Voc... ORPHA:98897
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:118200
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle action potential amp... OMIM:602433
Autosomal Recessive Spastic Paraplegia Type 43
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Ankle flexion contracture, Difficu... ORPHA:320370
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Inability to walk, Myoclonus, Pontocerebellar atrophy, Dystonia, Cl... OMIM:617854
Spinocerebellar Ataxia 12
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cerebral atrophy, Decreased number... OMIM:607250
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... ORPHA:251282
Amish Nemaline Myopathy
Progressive muscle weakness, Tremor, Respiratory insufficiency due to muscle weakness ORPHA:98902
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Dentatorubral-Pallidoluysian Atrophy
Chorea, Myoclonus, Parkinsonism, Ataxia, Dystonia, Choreoathetosis OMIM:125370
Cyanide-Induced Parkinsonism-Dystonia
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... ORPHA:306692
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Reduced cerebral white matter volume, Cerebral atrophy, Intrauterine growth retardati... OMIM:615095
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Spasticity, Broad-based gait, Difficulty walking, Dysmetria, Clumsiness, Babinski sign, Progressi... ORPHA:284332
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Cerebral atrophy, Cerebral cortex with spongiform changes, Astrocytosis, Myoclonus, A... ORPHA:204
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... OMIM:610532
Dystonia 24
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia OMIM:615034
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:607677
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... OMIM:611302
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Cerebellar atrophy, Falls, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, ... OMIM:300423
Paroxysmal Exertion-Induced Dyskinesia
Involuntary movements, Chorea, Paresthesia, Lower limb spasticity, Ataxia, Torsion dystonia, Dyst... ORPHA:98811
Dystonia With Cerebellar Atrophy
Dystonia, Craniofacial dystonia, Torticollis, Progressive cerebellar ataxia OMIM:611694
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Ataxia OMIM:619333
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Dysdiadochokinesis, Rigidity ORPHA:228169
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral hypomyelination, Paraly... OMIM:605285
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Progressive Multifocal Leukoencephalopathy
Somatic sensory dysfunction, Decreased proportion of CD8-positive T cells, Abnormal astrocyte mor... ORPHA:217260
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Steppage gait, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Progressive proximal muscle weakness, Small for gestational age OMIM:300076
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... ORPHA:98856
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph... OMIM:118220
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Steppage gait, Onion bulb formation OMIM:615185
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Difficulty walking, Axonal regeneration, Decreased sen... OMIM:608323
Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:454887
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Amyloidosis of peripheral nerves, Chorea, Astrocyto... ORPHA:282166
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, ... OMIM:607706
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dysto... ORPHA:329284
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Horner Syndrome, Congenital
Paralysis OMIM:143000
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... ORPHA:98763
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, Progressive distal muscle weakness, Facial diplegia, Foot dorsiflexor weakn... ORPHA:399058
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Spinocerebellar Ataxia 11
Gait imbalance, Limb ataxia, Gait ataxia, Truncal ataxia, Progressive cerebellar ataxia OMIM:604432
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai... OMIM:213200
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spasticity, Spastic gait, Decreased motor nerve ... OMIM:270550
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati... OMIM:615490
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Peripheral demyelination, Chorea, Ax... OMIM:604168
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Tip-toe gait, Fasciculations, Difficulty walking, Abnormal cerebellum morphology, Ank... OMIM:615681
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal sensory impairment, Tremor OMIM:614369
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dyston... OMIM:617284
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Generalized muscle weakness, Progressive external ophthalmoplegia, Cachexia, Weigh... OMIM:613662
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Dystonia, Athetosis OMIM:300857
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral demyelination, Gait imb... ORPHA:99953
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Decreased phosphoribosylpyrophosphate synthetase level, Segmental peripheral demye... OMIM:311070
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Difficulty walking, Inability to ... ORPHA:101077
Spinocerebellar Ataxia, Autosomal Recessive 6
Spasticity, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor OMIM:608029
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Paresthesia OMIM:612740
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Axial dystonia, Proximal muscle weakness, Opisthotonus, Parkinsoni... ORPHA:300605
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Poor fine motor coordination, Bradycardia OMIM:617182
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysdiadochokinesis, Myoclonus, Dysmetria, Sp... OMIM:614487
Urocanic Aciduria
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia ORPHA:210128
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Desminopathy
Axial muscle weakness, Distal lower limb muscle weakness, Progressive muscle weakness, Fatigable ... ORPHA:98909
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Ataxia OMIM:208700
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... ORPHA:726
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Tremor, Fasciculations OMIM:615048
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Cerebellar atrophy, Giant somatosensory evoked potentials, Myoclonu... OMIM:618876
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:605588
Distal Nebulin Myopathy
Slender build, Progressive distal muscle weakness, Foot dorsiflexor weakness, Progressive proxima... ORPHA:399103
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Peripheral ... OMIM:618387
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Falls, Axonal degeneration, Clonus, Elevated urinary quinolinic acid level... OMIM:618811
Distal Myopathy With Anterior Tibial Onset
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Tibialis muscle weakness ORPHA:178400
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Cerebral cortical atrophy, Spastic paraplegia, Cerebellar atrophy, Generalized dys... ORPHA:171629
Cerebral Creatine Deficiency Syndrome 2
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... OMIM:612736
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Cogwheel rigidity, Action tremor, Ga... OMIM:607483
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Leukoencephalopathy, Spasticity, Rigidity, Parkinsonism, Apraxia, CNS demyelination, Gliosis, Cor... OMIM:221820
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Abnormal tibia morphology, Parkinson... ORPHA:909
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Shuffling gait, Pill-rolling tremor, Rigidity, Dystonia, Loss of ambulation, Parkinso... OMIM:615528
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Lichtenstein-Knorr Syndrome
Limb ataxia, Gait ataxia, Action tremor, Dysmetria, Ataxia, Dysdiadochokinesis OMIM:616291
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor OMIM:302500
Krabbe Disease
Optic atrophy, Failure to thrive, Peripheral demyelination, CNS demyelination, Reduced galactocer... OMIM:245200
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Dystonia, Babinski sign, ... ORPHA:521406
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Fasciculations, Decreased compound muscle action poten... OMIM:600882
Peroxisome Biogenesis Disorder 11B
Hepatosplenomegaly, Progressive muscle weakness, Muscle weakness OMIM:614885
Chorea, Benign Familial
Chorea OMIM:215450
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Spinocerebellar Ataxia Type 28
Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dystonia, Babinski si... ORPHA:101109
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... ORPHA:314632
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Steppage gait, Decreased motor nerve conduction velocity, Onion bul... OMIM:610100
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Cerebral cortical atrophy, Involuntary movements, Sensory axonal neuropathy, Cereb... OMIM:271245
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Unsteady gait, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Spinocerebellar Ataxia, Autosomal Recessive 14
Spasticity, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intention tremor OMIM:615386
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis, Myoclonus, Rigidity, Babinski sign, Gait disturbance, Dystonia OMIM:600795
Myopathy, Myofibrillar, 4
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... OMIM:609452
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... ORPHA:284324
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Paroxysmal d... ORPHA:53583
Huntington Disease-Like 2
Cerebral cortical atrophy, Involuntary movements, Abnormal corpus striatum morphology, Chorea, Pa... ORPHA:98934
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, P... OMIM:606693
3-Methylglutaconic Aciduria Type 3
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia ORPHA:67047
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext... OMIM:615362
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Urinary incontinence, Cerebral cortical atrophy, Tip-toe gait, Urinary bladde... OMIM:604360
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Gait disturbance ORPHA:99944
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor OMIM:617863
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Tip-toe gait, Neurodegeneration, Motor axonal neuropathy, Rigidity, Dystonia... OMIM:615643
Hemimegalencephaly
Optic atrophy, Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Myoclonus, Hemipares... ORPHA:99802
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Ulnar claw, Decreased motor nerve conduction velocity, Impaired pain sensation, Distal sensory im... OMIM:607684
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Dysmetria, Tremor, Loss of ambulation, Lowe... OMIM:617916
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ata... OMIM:600116
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Failure to thrive, Tetraparesis, Motor axonal neuropathy, Dysp... OMIM:618276
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Poor head control, Dystonia OMIM:619651
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Cerebral cortical atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Ce... ORPHA:33445
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Vocal cord paralysis ORPHA:640
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... OMIM:613672
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis, Steppage gait OMIM:302802
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea OMIM:616939
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Gait disturbance, Hemiplegia/hemiparesis, Ataxia ORPHA:2815
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... ORPHA:79262
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration OMIM:607736
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Gait di... OMIM:617145
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia OMIM:605909
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Mitochondrial Membrane Protein-Associated Neurodegeneration
Optic atrophy, Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Abnormal substantia ... ORPHA:289560
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation... OMIM:616680
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Upper limb postural tremor, Hand tremor, Myoclonus, Limb dystonia, Torticollis, Or... ORPHA:420485
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Spinocerebellar Ataxia, Autosomal Recessive 10
Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal ataxia, Intention tremor OMIM:613728
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Dystonia, Clumsiness, Babinski sign, Oculomotor apraxia, Truncal ataxia, ... ORPHA:453521
Laing Early-Onset Distal Myopathy
Proximal muscle weakness in lower limbs, Weakness of orbicularis oculi muscle, Neck muscle weakne... ORPHA:59135
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Alexander Disease Type I
Spasticity, Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Cachexia, Abnormal pyr... ORPHA:363717
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Muscle weakness, Fasciculations ORPHA:65684
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Proximal muscle weakness, Peroneal muscle weakness, Progressive muscle weakness, Gowers sign, Fre... OMIM:611588
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia OMIM:615924
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Chorea, Writer's cramp, Dystonia, Athetosis ORPHA:98809
Dystonia 22, Juvenile-Onset
Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower limb spasticity, Tor... OMIM:620453
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Progressive spasticity, Spastic paraparesis, Sensory axonal neuropathy, Decreased ... OMIM:608804
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,... ORPHA:313772
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Distal sensory impairment OMIM:613710
Myopathy, Scapulohumeroperoneal
Foot dorsiflexor weakness, Progressive muscle weakness, Facial palsy, Wrist drop, Neck flexor wea... OMIM:616852
Dystonia 7, Torsion
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... OMIM:602124
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... OMIM:610185
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Gait d... OMIM:213600
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Progressive muscle weakness, Tremor OMIM:605355
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Myoclonus, Tremor, Ataxia OMIM:616494
Dystonia 2, Torsion, Autosomal Recessive
Blepharospasm, Torsion dystonia, Tremor, Torticollis OMIM:224500
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Myoclonus, Tremor OMIM:613608
Spastic Paraplegia 78, Autosomal Recessive
Cerebral cortical atrophy, Spastic paraplegia, Cerebellar atrophy, Resting tremor, Falls, Gait at... OMIM:617225
Riboflavin Transporter Deficiency
Limb muscle weakness, Myoclonus, Tremor, Bulbar palsy, Cachexia, Ataxia, Facial palsy, Muscle wea... ORPHA:97229
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Chorea, Olivopontocerebellar atrophy, Dysmetria, Tremor, Babinski sign... OMIM:164500
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Recurrent urinary tract infections, Peripheral demyelination, Im... OMIM:609033
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... ORPHA:254343
Spinocerebellar Ataxia 17
Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Dystonia, Diffuse cerebral atro... OMIM:607136
Papular Xanthoma
Histiocytosis ORPHA:158008
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
X-Linked Progressive Cerebellar Ataxia
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Progressive g... ORPHA:1175
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Steppage ... OMIM:608340
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Progressive proximal muscle weakness, Respiratory insuffici... ORPHA:663
Spinocerebellar Ataxia Type 2
Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fasciculations, Abnormal su... ORPHA:98756
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Inability to... ORPHA:391411
Isaacs Syndrome
Weight loss, Muscle weakness, Fasciculations ORPHA:84142
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Lower limb muscle weakness, Generalized muscle weakness, Progressive muscl... OMIM:620285
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Difficulty walking, Hyperglycinemia, Action tremor, Jaundice, Bradykinesia, ... ORPHA:309854
Spinocerebellar Ataxia Type 27
Sensory axonal neuropathy, Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb at... ORPHA:98764
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, R... OMIM:300894
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Gait d... OMIM:616710
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
Action myoclonus, Cerebellar atrophy, Falls, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De... OMIM:616230
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Limited interphalan... ORPHA:99948
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Familial Dyskinesia And Facial Myokymia
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia ORPHA:324588
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Gait ataxia, Intention tremor, Lower limb spasticity, Sensory ataxia OMIM:620221
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... ORPHA:216873
Stxbp1-Related Encephalopathy
Spasticity, Tremor, Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia, Dystonia, ... ORPHA:599373
Myopathy And Diabetes Mellitus
Weakness of orbicularis oculi muscle, Shoulder girdle muscle weakness, Babinski sign, Progressive... ORPHA:2596
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Delayed... OMIM:616811
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetri... OMIM:210000
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... OMIM:600363
Behavioral Variant Of Frontotemporal Dementia
Fasciculations, Astrocytosis, Abnormality of extrapyramidal motor function, Gait disturbance, Upp... ORPHA:275864
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Parietal cortical atrophy, Difficul... ORPHA:98
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Neurodegeneration, Difficulty walking, Dys... 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
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, Decreased number o... OMIM:618184
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum,... OMIM:613162
Spinocerebellar Ataxia Type 17
Blepharospasm, Ataxia, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, P... ORPHA:98759
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Osteomyelitis, Impaired vibration sensation in the lower limbs, Gait ataxia, ... ORPHA:88628
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Ataxia, Sensory, 1, Autosomal Dominant
Sensory ataxia, Positive Romberg sign, Gait ataxia, Babinski sign, Gait disturbance, Gait instabi... OMIM:608984
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Optic n... ORPHA:478029
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... OMIM:618090
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Incoordination, Chorea, Abnormal basal ganglia ... ORPHA:157941
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Difficulty walking, Slender build, Inability to walk, Astrocytosis, Joint hypermobility, Diabetes... OMIM:611087
Metachromatic Leukodystrophy
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Chorea, Babinski si... 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, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:620482
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasticity, Ataxia, Spasti... OMIM:610357
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Tetraparesis, Sclerosis of skull base, Femoral bowing, Increased sus... OMIM:602080
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
External ophthalmoplegia, Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Distal sensory impairment, El... OMIM:614455
Autosomal Recessive Spastic Paraplegia Type 25
Spastic paraplegia, Paraparesis, Abnormality of peripheral nerve conduction ORPHA:101005
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Ataxia OMIM:619191
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Tremor,... OMIM:617810
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Failure to thrive in infancy, Generalized muscle weakness, Progressive external... ORPHA:254875
Developmental And Epileptic Encephalopathy 97
Inability to walk, Tremor OMIM:619561
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Vocal cord paralysis, Peripheral hypomyelination OMIM:616287
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Basal ganglia necrosis, Lateral ventricle dilatation, Cerebral atrophy... ORPHA:79243
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Truncal ataxia, Progress... OMIM:607346
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle weakness, Tetraparesis, Limb muscle weakness, Proximal muscle weakness, Dy... OMIM:167320
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Claw hand deformity, Di... OMIM:601455
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Myoclonus, Tremor OMIM:615400
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Ankle clonus, Dystonia, Babi... OMIM:607565
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Congenital contracture, Hypoplasia of the pons, Hand tremor, Fasciculation... OMIM:607596
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101075
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Limb dystonia, ... OMIM:612067
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Secondary microcephaly, Dy... OMIM:620317
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Cerebellar atrophy, Leukodystrophy, Tremor, Rigidity, Cerebral hypomye... OMIM:612438
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Finger joint contracture, Chorea, Paresthesia, Abnormality of peripheral nerve conduction, Dysmet... ORPHA:48431
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Progressive spastic paraplegia, Progressive spastic paraparesis, Upper motor neuron dysfunction, ... ORPHA:506353
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Spasticity, Head tremor, Impaired vibration sensation in the lower limbs, Gait ataxia, Impaired p... ORPHA:352641
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Spinocerebellar Ataxia, Autosomal Recessive 13
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... OMIM:614831
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Limb ataxia, Gait ataxia, Dysmetria, Dystonia, Clumsiness, Oculomotor apraxia, ... OMIM:616127
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Failure to thrive, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodi... OMIM:600462
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Tremor, Hyperkinetic movements, Microcephaly, Abnormal cerebral white matter morpholo... OMIM:300957
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Gait disturbance, Steppage gait, Distal sensory impairment, Axonal degeneration OMIM:616155
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Trem... ORPHA:330050
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Ulnar claw, Decreased motor nerve conduction velocity, Fasciculations, Claw hand deformity, Dista... OMIM:606595
Diaminopentanuria
Spasticity, Hyperlysinuria, Neurodegeneration, Cystinuria, Ataxia OMIM:222350
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst... OMIM:143100
Amyotrophic Lateral Sclerosis
Spasticity, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Amyotrophic l... ORPHA:803
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand... ORPHA:53351
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Axonal degeneration, Peripheral axonal neuropathy, Craniofacial dystonia, Diaphragmatic paralysis... OMIM:620011
Molybdenum Cofactor Deficiency, Type A
Decreased urinary urate, Increased urinary taurine, Cerebral atrophy, Increased urinary hypoxanth... OMIM:252150
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial fibrillation, Sudden cardiac death, Atrial flutter OMIM:615770
L-2-Hydroxyglutaric Aciduria
Leukoencephalopathy, Optic atrophy, Spastic tetraparesis, Abnormality of extrapyramidal motor fun... OMIM:236792
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular tachycardia, Reduced lef... OMIM:612124
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Microcephaly, Gliosis, Hypertonia OMIM:225753
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Myoclonus, Tremor, Loss of ambulation, Ataxia OMIM:614018
Spinocerebellar Ataxia 50
Froment sign, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, ... OMIM:620158
Developmental And Epileptic Encephalopathy 32
Myoclonus, Tremor, Ataxia OMIM:616366
Arts Syndrome
Progressive muscle weakness, Tetraplegia, Ataxia OMIM:301835
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Difficulty wa... ORPHA:137898
Dystonia 37, Early-Onset, With Striatal Lesions
Generalized dystonia, Chorea, Leg dystonia, Loss of ambulation, Oculomotor apraxia, Ataxia, Chore... OMIM:620427
Ceroid Lipofuscinosis, Neuronal, 5
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... OMIM:256731
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Tetraparesis, Leukopenia, Hyperammonemia, Macrocytic anemia, Paraparesis, Thromboc... ORPHA:27
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Cerebral hypoplasia, Abnormal astrocyte morphology, Neuronal loss in the cerebral cor... ORPHA:168486
Infantile Refsum Disease
Spasticity, Failure to thrive, Progressive muscle weakness, Ataxia, Facial palsy ORPHA:772
Spinocerebellar Ataxia Type 26
Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progressive cerebellar ataxia ORPHA:101112
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Impaired pain sensation, Tremor, Ataxia ORPHA:101078
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Diencephalic Syndrome
Optic atrophy, Cachexia, Decreased body weight ORPHA:1672
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Spastic paraparesis, Spasticity, Cervical spinal cord atro... ORPHA:363722
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval, P... ORPHA:542306
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Pelizaeus-Merzbacher Disease, Connatal Form
Failure to thrive, Pachygyria, Cerebral hypomyelination, Lower limb spasticity, Gliosis, Confluen... ORPHA:280210
Leigh Syndrome, Nuclear
Optic atrophy, Spasticity, Failure to thrive, Focal substantia nigra T2 hyperintensity, CNS demye... OMIM:256000
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Myoc... ORPHA:79263
Spinocerebellar Ataxia 4
Babinski sign, Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia OMIM:600223
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dystonia, Torticollis, Bra... ORPHA:71517
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Decreased motor nerv... OMIM:615376
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Congenital Muscular Dystrophy Due To Lmna Mutation
Poor head control, Cachexia, Axial muscle weakness ORPHA:157973
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Le... OMIM:607694
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Rigidity, Babinski sign, Microcephaly, Delayed CNS myelination, Clonus, Gliosis, H... OMIM:614498
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Triosephosphate Isomerase Deficiency
Normocytic anemia, Spasticity, Muscle weakness, Failure to thrive, Splenomegaly, Macrocytic anemi... OMIM:615512
Duchenne Muscular Dystrophy
Progressive muscle weakness, Proximal muscle weakness ORPHA:98896
Distal Myotilinopathy
Progressive proximal muscle weakness, Progressive distal muscle weakness ORPHA:98911
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Spinocerebellar Ataxia 44
Spasticity, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis OMIM:617691
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia OMIM:619028
Congenital Myopathy 10B, Mild Variant
Neck muscle weakness, Limb muscle weakness, Proximal muscle weakness, Generalized muscle weakness... OMIM:620249
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Cerebellar atrophy, Limb myoclonus, Postural tremor, Limb ata... OMIM:619862
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Degeneration of anterior horn cells, Hand tremor, Muscle weakness OMIM:253550
Marinesco-Sjogren Syndrome
Spasticity, Failure to thrive, Limb ataxia, Gait ataxia, Progressive muscle weakness, Ataxia OMIM:248800
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Molybdenum Cofactor Deficiency, Type B
Decreased urinary urate, Increased urinary taurine, Cerebral atrophy, Increased urinary hypoxanth... OMIM:252160
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hand tremor, Total ophthalmoplegia, Limb muscle weakness, Gait ataxia, Rigidity, ... OMIM:157640
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Intellectual Developmental Disorder, Autosomal Recessive 48
Inability to walk, Tremor, Waddling gait OMIM:616269
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Spasticity, Bradycardia OMIM:618235
Mulibrey Nanism
Cachexia ORPHA:2576
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... ORPHA:240103
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc... ORPHA:100988
Spinocerebellar Ataxia 25
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Babinski sign, Oculom... OMIM:608703
Prune1-Related Neurological Syndrome
Optic atrophy, Tongue fasciculations, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ... ORPHA:544469
Finnish Upper Limb-Onset Distal Myopathy
Clumsiness, Progressive proximal muscle weakness, Progressive distal muscle weakness ORPHA:399086
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Spastic Paraplegia 48, Autosomal Recessive
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Dysmetria, Parkinsonism,... OMIM:613647
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Tremor, Ataxia ORPHA:1368
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Urinary incontinence, Axonal degeneration, Peripheral axonal degeneration, Diaphragmatic paralysi... OMIM:604320
Spinocerebellar Ataxia 29
Truncal titubation, Broad-based gait, Limb ataxia, Gait ataxia, Intention tremor, Dysmetria, Impa... OMIM:117360
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Vocal cord paralysis OMIM:607641
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Spasticity, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Truncal ataxia, Slurred speec... ORPHA:352403
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Impaired pain sensation, Paresthesia, Limb ataxia, Gait ataxia, Distal sensory impair... OMIM:616719
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Sensory axonal neuropathy, Abnormal cerebellum morphology, Motor axonal neuro... OMIM:256850
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... ORPHA:276435
Leukoencephalopathy With Vanishing White Matter 1
Leukoencephalopathy, Optic atrophy, Spasticity, Cessation of head growth, Cerebral hypomyelinatio... OMIM:603896
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, ... OMIM:619911
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Spasticity, Gait ataxia, Spastic ataxia, Gliosis, Torticollis, Frequen... OMIM:618369
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal nerve conduction velocit... ORPHA:98755
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Spasticity, Bradycardia OMIM:616277
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Spastic tetraplegia, Lateral ventricle dilatation, Cerebral palsy, Cerebral atrophy, ... OMIM:619847
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination, Oligohydramnios, Abnormal renal corticomedullary differentiation, Renal... OMIM:616733
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... OMIM:618049
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Generalized muscle weakness, Distal lower limb muscle weakness, Bilateral facial palsy, Progressi... ORPHA:254361
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Spastic paraplegia, Tongue fasciculations, Limb fasciculations, Elevated circulating alkaline pho... ORPHA:329475
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Loss of ambulation, Gait disturbance, Onion bulb formation, ... OMIM:615284
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Decreased number of peripheral... ORPHA:320406
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... ORPHA:101
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Adrenomyeloneuropathy
Urinary incontinence, Spasticity, Urinary retention, Progressive spastic paraparesis, Urinary bla... ORPHA:139399
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Huntington Disease-Like 2
Bradykinesia, Chorea, Action tremor, Rigidity, Weight loss, Dystonia OMIM:606438
Hsd10 Disease
Optic atrophy, Frontotemporal cerebral atrophy, Spastic paraparesis, Myoclonus, Tremor, Rigidity,... ORPHA:391417
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Gait ataxia, Tremor, Ataxia OMIM:617831
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Abnormal substantia nigra morphology, Inability to walk, Abnormality o... ORPHA:2822
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Elevated circulating creatine kinase concentration, Axonal degeneration OMIM:618138
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia OMIM:617836
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Microcephaly, Lower limb spasticity, Gliosis, Bilateral basal ganglia lesions OMIM:615119
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness OMIM:619024
Congenital Disorder Of Glycosylation, Type Iibb
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Tetraparesis, Antalgic gait, Tremor... OMIM:620546
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Spinocerebellar Ataxia, Autosomal Recessive 7
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... OMIM:609270
Spinocerebellar Ataxia, Autosomal Recessive 26
Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxia, Impaired distal p... OMIM:617633
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Vestibular areflexia, Intention tremor... ORPHA:504476
Autosomal Dominant Spastic Paraplegia Type 73
Progressive spastic paraplegia, Progressive spastic paraparesis, Difficulty walking, Degeneration... ORPHA:444099
Muscular Dystrophy, Congenital, With Or Without Seizures
Proximal muscle weakness, Progressive muscle weakness, Ataxia, Frequent falls, Muscle weakness OMIM:620166
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Muscle weakness, Ataxia OMIM:618951
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Bradycardia, Spasticity of pharyngeal muscles, Tachyc... ORPHA:3299
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Tremor, Ataxia OMIM:616421
Moynahan Syndrome
Short stature, Microcephaly, Cachexia ORPHA:2574
Abetalipoproteinemia
Peripheral demyelination, CNS demyelination, Ataxia OMIM:200100
Spinocerebellar Ataxia 42
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... OMIM:616795
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ankle clonus... OMIM:617435
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Impaired vibratory sensation, Sensory axonal neuropathy, Somatic sensory dysfuncti... ORPHA:99947
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Tremor, Ataxia OMIM:278780
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Involuntary movements, Resting tremor, Neck muscle weakness, Chorea, Myoclonus, Generalized muscl... OMIM:606703
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraparesis, Clinodactyly, Difficulty walking, Short foot, Spastic paraplegia, Dysmetria,... OMIM:275900
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Cerebellar hypoplasia, Limb dystonia, Tremor, Ataxia OMIM:620270
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Fai... OMIM:203700
Glutaric Acidemia I
Failure to thrive, Symmetrical progressive peripheral demyelination, Rigidity, Opisthotonus, Dyst... OMIM:231670
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... ORPHA:363654
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Broad-based gait, Tip-toe gait, Fasciculations, Hip contracture, Elevated circulating creatine ki... OMIM:615290
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Developmental And Epileptic Encephalopathy 82
Cerebellar vermis hypoplasia, Spastic paraparesis, Cerebral atrophy, Inability to walk, Spastic t... OMIM:618721
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis OMIM:261630
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Spastic Paraplegia 50, Autosomal Recessive
Cerebral palsy, Hypoplasia of the corpus callosum, Babinski sign, Microcephaly, Limb hypertonia, ... OMIM:612936
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Cerebral cortical atrophy, Tremor, Delayed CNS myelination, Ataxia OMIM:300983
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Somatic sensory dysfunction, Fasciculations, Ankle clonus, Achilles tendon contracture OMIM:620323
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Syncope, V... OMIM:613838
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Adult-Onset Cervical Dystonia, Dyt23 Type
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... ORPHA:420492
Pontocerebellar Hypoplasia, Type 2A
Optic atrophy, Cerebral cortical atrophy, Chorea, Abnormal periventricular white matter morpholog... OMIM:277470
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Tremor, Proximal muscle weakness, Ataxia, Distal muscle weakness OMIM:618637
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia OMIM:618587
Acute Peripheral Arterial Occlusion
Paralysis, Paresthesia, Impaired distal tactile sensation ORPHA:90064
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Developmental And Epileptic Encephalopathy 101
Opisthotonus, Myoclonus, Third degree atrioventricular block, Bradycardia OMIM:619814
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis OMIM:618453
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Juvenile Huntington Disease
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ... ORPHA:248111
Sandhoff Disease, Juvenile Form
Acroparesthesia, Cerebellar atrophy, Failure to thrive, Fasciculations, Incoordination, Abnormali... ORPHA:309162
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Fasc... OMIM:616688
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Spastic paraparesis, Difficulty walking, Inability to walk, Facial diplegia, Decre... ORPHA:254930
Sclerosteosis
Craniofacial hyperostosis, Optic atrophy, Finger syndactyly, Curved distal phalanges of the hand,... ORPHA:3152
Christianson Syndrome
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Gait ataxia, Microcephaly, ... ORPHA:85278
Myoclonic Epilepsy, Familial Infantile
Impaired tandem gait, Limb ataxia, Gait ataxia, Ataxia OMIM:605021
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... OMIM:271630
Lipoyltransferase 1 Deficiency
Abnormality of extrapyramidal motor function, Spastic tetraparesis, Pulmonary arterial hypertensi... OMIM:616299
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Myoclonus, Tremor, Proximal muscle weakness, Respiratory insufficiency due... OMIM:159950
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Myoclonus, Gliosis, Cerebral atrophy, Abnormality of extrapyramidal motor function OMIM:604218
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt... ORPHA:1170
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Atrophy/Degenerat... ORPHA:99852
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, ... OMIM:616505
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Limb muscle weakness, Proximal muscle weakness, Progressive external ophthalmoplegia, Parkinsonis... OMIM:609286
Neuropathy, Congenital Hypomyelinating, 3
Spasticity, CNS hypomyelination, Facial diplegia, Hypoplasia of the corpus callosum, Neonatal dea... OMIM:618186
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Leukodystrophy, Olivopontocere... OMIM:278800
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis, Decreased response to growth hormone stimulation test, Cerebellar dysplasia... ORPHA:457240
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Ataxia, Spasticity, Spastic paraparesis, Cerebral atrophy, Decreased nerve conduction velocity, P... OMIM:609136
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Spastic paraplegia, Spasticity, Spastic paraparesis, Impaired vibratory sensation, Failure to thr... OMIM:238970
Parkinsonism-Dystonia 3, Childhood-Onset
Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ... OMIM:619738
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Farber Disease
Spasticity, Hepatic failure, Elevated circulating hepatic transaminase concentration, Short toe, ... ORPHA:333
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Coasy Protein-Associated Neurodegeneration
Spastic paraparesis, Difficulty walking, Peripheral axonal neuropathy, Parkinsonism, Oromandibula... ORPHA:397725
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medic... ORPHA:240085
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Hypogonadism, Limb ataxia, Primary adrenal insufficiency, Par... OMIM:300100
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia ORPHA:306669
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Cervical spinal cord atrophy, Motor ax... ORPHA:35689
Lethal Congenital Contracture Syndrome 7
Cerebellar atrophy, Cerebral atrophy, Facial diplegia, Paralysis, Polyhydramnios OMIM:616286
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor... OMIM:600785
Autosomal Recessive Centronuclear Myopathy
Ophthalmoparesis, Facial diplegia, Ophthalmoplegia, Progressive muscle weakness, Gowers sign, Fac... ORPHA:169186
Multiple Sulfatase Deficiency
Spasticity, Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, CNS demyelination, At... OMIM:272200
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... OMIM:606159
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Clumsiness, Eyelid myoc... ORPHA:2590
Wild Type Attr Amyloidosis
Aortic valve stenosis, Impaired vibratory sensation, Congestive heart failure, Hypertrophic cardi... ORPHA:330001
Parkinsonism With Polyneuropathy
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:619279
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Machado-Joseph Disease
Spasticity, Spinocerebellar tract degeneration, Facial-lingual fasciculations, Fasciculations, Li... OMIM:109150
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... ORPHA:139485
Dystonia 34, Myoclonic
Hand tremor, Head tremor, Myoclonus, Impaired tandem gait, Torticollis, Writer's cramp, Dystonia OMIM:619724
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Bradykinesia, Ataxia OMIM:618683
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Myoclonus, Tremor, Progressive muscle weakness, Right hemiplegia, Ataxia, Anemia OMIM:607426
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Variegate Porphyria
Paralysis OMIM:176200
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Tangier Disease
Impaired pain sensation, Peripheral demyelination, Impaired temperature sensation, Facial diplegi... OMIM:205400
Spinocerebellar Ataxia 34
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait atax... OMIM:133190
East Syndrome
Cerebellar atrophy, Renal magnesium wasting, Abnormal urinary electrolyte concentration, Difficul... ORPHA:199343
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calci... OMIM:222765
Pelizaeus-Merzbacher Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Failure to thrive in infancy, Microcephaly,... ORPHA:702
Combined Saposin Deficiency
Optic atrophy, Fasciculations, Myoclonus, Splenomegaly, Hyperkinetic movements, Babinski sign, CN... OMIM:611721
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Abnormality of adre... ORPHA:43
Spinocerebellar Ataxia Type 3
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... ORPHA:98757
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Inability to walk, Decreased nerve conduction velocity... OMIM:218000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Cerebral palsy, Spastic tetraparesis, Generalized dystonia, Hyperglycinemia, H... OMIM:620358
Caribbean Parkinsonism
Cerebral cortical atrophy, Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dys... ORPHA:97355
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Hypertonia ORPHA:1389
Paroxysmal Non-Kinesigenic Dyskinesia
Involuntary movements, Chorea, Joint stiffness, Rigidity, Hyperkinetic movements, Torticollis, Dy... ORPHA:98810
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor... ORPHA:529665
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Motor axo... OMIM:614298
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Truncal ataxia, Atrioventricular block, Intention tremor, Bradycardia OMIM:614407
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Peripheral axonal neuropathy, Cachexia, Weight loss, Anemia, Abnormal cerebr... ORPHA:298
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hypoplasia of the corpus cal... OMIM:604213
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Ataxia OMIM:610951
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u... ORPHA:3416
Dystonia 9
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Dystonia, Choreoathetosis OMIM:601042
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar ve... OMIM:614381
Immunodeficiency 83, Susceptibility To Viral Infections
Gliosis, Hemiparesis OMIM:613002
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Neurodegen... OMIM:615491
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Peripheral axonal degeneration, Axonal degeneration OMIM:162100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Difficulty walking, Motor axonal neuropathy, Abnormal myelination, Tongue tremor, Mixed demyelina... ORPHA:466768
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Involuntary movements, Progressive extrapyramidal movement disorder, Resting tremo... ORPHA:401768
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Basal ganglia calcification, Agenesis of corpus callosum, Diffuse cerebral atr... OMIM:214150
Parkinson-Dementia Syndrome
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity OMIM:260540
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Limb myoclonus, Hand tremor, Fasciculations, Difficulty walking, Head trem... ORPHA:276198
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Head tremor, Positive Romberg sign, Urinary incontinence, Unste... ORPHA:101085
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Generalized dystonia, Inability t... OMIM:617013
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Developmental And Epileptic Encephalopathy 69
Congenital contracture, Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Arthrogry... OMIM:618285
4H Leukodystrophy
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... ORPHA:289494
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Difficulty walki... ORPHA:206443
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Difficulty walking, Puberty and gonadal disorders, Ob... ORPHA:464282
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Difficulty walkin... OMIM:600081
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria... ORPHA:93952
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Cerebellar atrophy, Generalized dystonia, Inability to walk, Tremor, Babinski sign... OMIM:128100
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Spasticity, Cerebral atrophy, Failure to thrive in infancy, Intrauterine growth retardation, Hypo... OMIM:616801
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Inability to walk, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia,... OMIM:618877
Dk1-Cdg
Progressive muscle weakness, Failure to thrive ORPHA:91131
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Pappenheimer bodies, Positive Romberg sign, Weight loss, Clonus, Poikilocyt... OMIM:301310
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Bradycardia OMIM:614654
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, ... ORPHA:352649
Adducted Thumbs Syndrome
Microcephaly, Myelin-dependent gliosis, Cerebral dysmyelination OMIM:201550
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Failure to thrive OMIM:619518
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Cerebellar atrophy, Falls, Generalized dystonia, Progressive spastic paraplegia, C... ORPHA:329308
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spasticity, Degeneration of the striatum, Cerebellar atro... ORPHA:276244
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Pulmonary Blastoma
Weight loss ORPHA:64741
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Spastic paraplegia, Tip-toe gait, Abnormal astrocyte morphology, Tremor, Metaphyseal chondrodyspl... ORPHA:83629
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... OMIM:618963
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Spastic tetraparesis, Tremor, Broad-based gait OMIM:619470
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul... OMIM:212138
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Progressive muscle weakness OMIM:151800
Arachnoid Cyst
Chiari malformation, Tetraparesis, Inability to walk, Cranial nerve compression, Paresthesia, Abn... ORPHA:2356
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign ORPHA:477673
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin... OMIM:241530
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Subcortical white matter calcifications, Diffuse cerebral atrophy, Head titubation, Gliosis, Hypo... ORPHA:3240
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Tremor OMIM:190310
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Gait ataxi... ORPHA:90103
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... OMIM:616812
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia, Truncal ataxia, Poo... ORPHA:98772
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu... ORPHA:42
X-Linked Creatine Transporter Deficiency
Chorea, Cachexia, Hypertonia, Ataxia, Dystonia, Athetosis ORPHA:52503
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Huntington Disease
Involuntary movements, Decreased body mass index, Abnormal circulating cholesterol concentration,... ORPHA:399
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Chemodectoma, Vocal cord paralysis, Glomus jugular tumor, Glomus tympanicum ... OMIM:601650
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Coxa vara,... ORPHA:174
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormality of the spleen, Cachexia ORPHA:93941
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Gait disturbance, Steppage gait, Axonal loss OMIM:118300
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Tremor, Ataxia OMIM:612126
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Sensory axonal neuropathy, Fasciculations, Cranial nerve compression, Pathologic fracture, Abnorm... ORPHA:52430
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia, Sma... ORPHA:70594
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Parkinson Disease 20, Early-Onset
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Bradykinesia, Tremor, Rigidi... OMIM:615530
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Ataxia... ORPHA:2585
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity OMIM:617404
Bethlem Myopathy 2
Scoliosis, Kyphosis OMIM:616471
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Head tremor, Gait ataxia, Dysmetria, Peripheral axonal neuropathy, Titubation ORPHA:98771
Tay-Sachs Disease
Incoordination, Poor fine motor coordination, Precocious puberty, Inability to walk, Limited elbo... ORPHA:845
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Abnormal b... ORPHA:370022
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Hemophagocytosis, Spasticity OMIM:607624
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Facial Onset Sensory And Motor Neuronopathy
Paresthesia, Fasciculations ORPHA:85162
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... OMIM:264700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Failure to thrive, Limb muscle weakness, Progressive external ophthalmoplegia, Progressive muscle... OMIM:610131
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Resting tremor, Akinesia, Abnormal cranial nerve morphology, Gait ata... ORPHA:247234
Hypokalemic Periodic Paralysis
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis ORPHA:681
Spinocerebellar Ataxia 2
Spasticity, Cerebellar atrophy, Fasciculations, Dilated fourth ventricle, Limb ataxia, Myoclonus,... OMIM:183090
Angioedema, Hereditary, 1
Periorbital edema, Angioedema, Laryngeal edema, Axonal degeneration, Peripheral axonal neuropathy... OMIM:106100
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Difficulty walking, Head tremor, Abnormality of extrapyramidal motor function, Dyston... ORPHA:280219
Infantile Krabbe Disease
Spasticity, Failure to thrive, Shoulder girdle muscle weakness, Neck muscle weakness, Myoclonus, ... ORPHA:206436
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Neurofibrillary tangles, Cerebral atrophy, Astrocytosis, Limb dys... OMIM:601104
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Ataxia, Bradykinesi... OMIM:619725
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Spinocerebellar Ataxia 6
Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Truncal ataxia, Abnormal v... OMIM:183086
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Somatic sensory dysfunction, Aspiration pneumonia, Inability t... ORPHA:90117
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Tremor, Substantia nigra gliosis, Rigidity, Dystoni... OMIM:168600
Myelopathy, Htlv-1-Associated
Spastic paraparesis, Abnormal pyramidal sign OMIM:159580
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Tetraplegia, Gliosis, Hypertonia, Cerebral edema, Spastic tetraplegia OMIM:608033
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia OMIM:608768
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia OMIM:612016
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Foot osteomyelitis, Hand tremor, Osteomyelitis, Distal sensory impairment,... OMIM:162400
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu... OMIM:277440
Ataxia With Vitamin E Deficiency
Hemiplegia/hemiparesis, Dysmetria, Tremor, Abnormal pyramidal sign, Gait disturbance, Hypertonia,... ORPHA:96
Ataxia-Telangiectasia-Like Disorder 1
Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Dystonia, Lower limb spasticity, Oculomotor a... OMIM:604391
Winchester Syndrome
Kyphosis OMIM:277950
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move... OMIM:616981
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral my... OMIM:607831
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Phenylketonuria
Osteopenia, Tremor, Lower limb spasticity, Hyperphenylalaninemia, Ataxia ORPHA:716
Peho Syndrome
Optic atrophy, Cerebellar atrophy, Peripheral dysmyelination, Myoclonus, Neuronal loss in central... OMIM:260565
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Cerebellar vermis atrophy, Diffuse cerebral atrophy, Diffuse demyelination of the cer... ORPHA:77299
Perry Syndrome
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function ORPHA:178509
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cerebral calcification, Microcephaly, Cachexia, Ataxia, Short stature ORPHA:1933
Spinocerebellar Ataxia With Epilepsy
Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive cerebellar a... ORPHA:254881
Wolman Disease
Anemia, Cachexia, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Hyperkinetic movements, Truncal ataxia, Progressive proximal muscle weakness, Chorea ORPHA:369847
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Periventricular leukomalacia, Gliosis ORPHA:357225
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Kyphosis, Scoliosis, Hyperlordosis OMIM:600175
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Difficulty walking, Babinski sign, Hoffmann sign, Fasciculations OMIM:620402
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Intrauterine growth retardation, Cerebral calcification, Splenomegaly, Tremor, Ri... OMIM:615010
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D... OMIM:615889
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Akinesia, Abnor... OMIM:607454
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Spasticity, Bradycardia OMIM:614702
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy, Ataxia ORPHA:3222
Machado-Joseph Disease Type 1
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration,... ORPHA:276241
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Sensory axonal neuropathy, Foot osteomyelitis, Progressive spasti... ORPHA:139578
Leigh Syndrome
Spasticity, Neuronal loss in basal ganglia, Leukodystrophy, Hypoplasia of the corpus callosum, Ag... ORPHA:506
Gerstmann-Straussler Disease
Spasticity, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Pa... OMIM:137440
Lissencephaly, X-Linked, 2
Spasticity, Agenesis of corpus callosum, Gliosis, Pachygyria, Lissencephaly OMIM:300215
Glutathionuria
Reduced gamma-glutamyltransferase level, Reduced tissue gamma-glutamyltransferase activity, Actio... OMIM:231950
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Spinocerebellar Ataxia, Autosomal Recessive 11
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia OMIM:614229
X-Linked Charcot-Marie-Tooth Disease Type 2
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ba... ORPHA:101076
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal femoral metaphysis morphology... ORPHA:668
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Ketonuria, Methylmalonic aciduria, Cerebral atrophy, Dehydration, Peripheral demye... ORPHA:79282
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Spasticity, Polymicrogyria, Decreased body weight, Agenesis of corpus callosum, Dysplastic corpus... OMIM:614833
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Lingual dystonia, Optic disc pallor, Abnormal myelination, Hypotriglyceridemia, In... ORPHA:404454
Baker-Gordon Syndrome
Involuntary movements, Inability to walk, Joint hypermobility, Hyperkinetic movements, Ataxia, Dy... OMIM:618218
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyramidal sign, Gait distu... ORPHA:542310
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, CNS hypomyelination, Hypoplasia of the corpus callosum, Agenesis of co... OMIM:616239
Bethlem Muscular Dystrophy
Quadriceps muscle weakness, Reduced maximal expiratory pressure, Neck muscle weakness, Foot dorsi... ORPHA:610
Hyperphenylalaninemia, Bh4-Deficient, A
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... OMIM:261640
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Spasticity, Spinocerebellar tract disease in lower limbs, Growth delay... OMIM:248500
Charcot-Marie-Tooth Disease Type 4C
Sensory ataxia, Tongue fasciculations, Vocal cord paresis, Optic atrophy, Facial paralysis, Impai... ORPHA:99949
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Cerebral atrophy, Tremor, Cerebellar hypoplasia, Ataxia, Dystonia, Choreoathetosis OMIM:619422
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Inability to walk, Tremor, Cerebellar hypoplasia, Delayed CNS myelination, Hypertonia, Ataxia OMIM:619556
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Limb ataxia, Abnormal circulat... ORPHA:284289
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Cerebral atrophy, Difficulty walking, Abnormali... ORPHA:442835
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Difficulty walking, Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... OMIM:612953
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Resting tremor, Lewy bodies, Rigidity, Dystonia, Parkinsonism, Weight ... ORPHA:411602
Timothy Syndrome
Atrioventricular block, Pulmonary arterial hypertension, Ventricular tachycardia, Bradycardia, Pr... OMIM:601005
Rett Syndrome
Cerebral cortical atrophy, Spasticity, Secondary microcephaly, Gait ataxia, Cachexia, Gait apraxi... OMIM:312750
Leukoencephalopathy With Ataxia
Limb ataxia, Gait ataxia, Action tremor OMIM:615651
Microtriplication 11Q24.1
Small hand, Limitation of joint mobility, Speech apraxia, Obesity, Genu valgum, Hyperlipidemia, H... ORPHA:289522
Congenital Fiber-Type Disproportion Myopathy
Weakness of muscles of respiration, Failure to thrive, Shoulder girdle muscle weakness, Foot dors... ORPHA:2020
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait OMIM:614867
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Diffuse cerebral atrophy,... OMIM:617710
O'Sullivan-Mcleod Syndrome
Upper limb muscle weakness, Cold paresis, Fasciculations, Tremor, Eosinophilia ORPHA:99965
Flynn-Aird Syndrome
Cerebral cortical atrophy, Cachexia, Cerebral calcification, Ataxia ORPHA:2047
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Spasticity, Abnormal brainstem morphology, Myoclonus, Hemiplegia/hemiparesis, Abno... ORPHA:79279
Myopathy With Extrapyramidal Signs
Difficulty walking, Peripheral axonal neuropathy, Hypervalinemia, Clonus, Ataxia, Choreoathetosis... OMIM:615673
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Dysdiadochokinesis, Enuresis, Cerebellar atrophy, Hyperaldosteronism, Renal sodium... OMIM:612780
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Spinocerebellar Ataxia 1
Spasticity, Optic disc pallor, Progressive cerebellar ataxia, Impaired vibratory sensation, Chore... OMIM:164400
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Abnormal pyramidal sign, ... ORPHA:99027
Waisman Syndrome
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... OMIM:311510
Lissencephaly Due To Tuba1A Mutation
Spasticity, Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, A... ORPHA:171680
Bilateral Perisylvian Polymicrogyria
Cerebellar vermis hypoplasia, Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Cerebellar dy... ORPHA:98889
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Micromelia, Camptodactyly... ORPHA:2635
Cockayne Syndrome Type 3
Cerebellar dentate nucleus calcification, Elevated circulating hepatic transaminase concentration... ORPHA:90324
Mucolipidosis Iv
Optic atrophy, Dysplastic corpus callosum, Babinski sign, Microcephaly, Dystonia, Spastic tetrapl... OMIM:252650
Combined Oxidative Phosphorylation Deficiency 14
Cerebral cortical atrophy, Cerebral atrophy, Myoclonus, Diffuse cerebral atrophy, Microcephaly, G... OMIM:614946
Developmental And Epileptic Encephalopathy 42
Tremor, Athetosis, Hypertonia, Ataxia OMIM:617106
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Failure to thrive, Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Decrease... OMIM:230600
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebral atrophy, Abnormal pyramidal sign, Abnormal pyramidal tract morphology, Gl... OMIM:256600
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts, Fa... OMIM:600121
Fragile X Tremor/Ataxia Syndrome
Poor fine motor coordination, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmet... OMIM:300623
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Pontocerebellar atrophy, Tremor, Cerebellar hypoplasia, Abnormal pyramidal sign, ... OMIM:618060
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Elevated c... ORPHA:289157
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Leukodystrophy, Peripheral demyelination, Genu valgum, Hyperbilirub... OMIM:619475
Neuronal Intranuclear Inclusion Disease
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia OMIM:603472
Valinemia
Hyperkinetic movements, Hypervalinemia, Failure to thrive OMIM:277100
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Global brain atrophy, Generalized dystonia, Abnormality of somatos... ORPHA:52368
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Inability to walk, Astrocytosis, Pontocerebellar atrophy, Decreased body weight, Flexion contract... ORPHA:258
Gaucher Disease, Type Iii
Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Decreased body weight, Decreased beta... OMIM:231000
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Tremor, Hemiparesis, Ataxia, Intention tremor OMIM:614307
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Periodic paralysis, Tremor OMIM:613239
Trigeminal Neuralgia
Peripheral demyelination, CNS demyelination, Cranial nerve compression ORPHA:221091
Spinocerebellar Ataxia Type 42
Upper limb postural tremor, Cerebellar atrophy, Resting tremor, Cerebellar vermis atrophy, Head t... ORPHA:458803
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Cerebral atrophy, Ataxia OMIM:614116
Congenital Disorder Of Glycosylation, Type Ie
Optic atrophy, Small hand, Elevated circulating hepatic transaminase concentration, Ankle flexion... OMIM:608799
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Tip-toe gait, Generalized dystonia, Inability to walk, Increased susceptibility to fr... ORPHA:216866
Neurofibromatosis, Familial Spinal
Neurofibroma, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Paraparesis, Spi... OMIM:162210
Acute Transverse Myelitis
Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Dissociated sensory loss, ... ORPHA:139417
Gm1 Gangliosidosis
Spasticity, Hepatosplenomegaly, Weight loss, Ataxia, Unsteady gait, Coarse metaphyseal trabecular... ORPHA:354
Combined Oxidative Phosphorylation Deficiency 54
Secondary microcephaly, Intrauterine growth retardation, Obesity, Periventricular white matter hy... OMIM:619737
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Severe failure to thrive, Cac... ORPHA:371364
Poliomyelitis
Fasciculations, Inability to walk, Stiff neck, Paresthesia, Abnormal motor nerve conduction veloc... ORPHA:2912
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
Renpenning Syndrome
Severe short stature, Microcephaly, Cachexia, Growth delay ORPHA:3242
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Cerebellar atrophy, Anasarca, P... OMIM:254900
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Small hand, Spastic tetraplegia, Shuffling gait, Resting tremor, Male hypogon... OMIM:300055
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia OMIM:300619
Pontocerebellar Hypoplasia, Type 1D
Tongue fasciculations, Spasticity, Cerebellar atrophy, Failure to thrive, Fasciculations, Multipl... OMIM:618065
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Difficulty walking, Chorea, L... ORPHA:157846
Amyotrophic Lateral Sclerosis 28
Difficulty walking, Babinski sign, Chaddock reflex, Fasciculations OMIM:620452
Foxg1 Syndrome
Spasticity, Difficulty walking, Inability to walk, Myoclonus, Decreased body weight, Hyperkinetic... ORPHA:561854
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Tremor, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Hypert... ORPHA:1192
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Pulmonary arterial hypertension, Tetraplegia, Hypertonia, Bradycardia OMIM:619272
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Decreased motor nerve conduction velocity, Head tremor, Chorea, Gait ataxia, ... OMIM:606002
Illum Syndrome
Bradycardia OMIM:208155
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinating pe... ORPHA:2821
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Sensory axonal neuropathy, Fasciculations, Distal sensory impairment, Elevated circulating creati... OMIM:137200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Cerebral atrophy, Chorea, Pancytopenia, Myoclonus, Gait ataxia, Abnormal ce... OMIM:618321
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Tip-toe gait, Ankle clonus, Loss of ambulation, Babinski sign, Lower limb ... ORPHA:565624
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Spinal cord lesion, Babinski sign, Degeneration of the lateral co... ORPHA:171863
Ck Syndrome
Joint hypermobility, Slender build, Abnormal cortical bone morphology, Abnormal digit morphology OMIM:300831
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Elevated circulating gamma-aminobutyric acid concentration, Hyperkinetic move... OMIM:271980
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Increased body weight, Progressive muscle weakness, Limb-girdle muscle weakness, An... ORPHA:79240
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Osteogenesis Imperfecta, Type Xxii
Slender long bone, Abnormal blood phosphate concentration, Decreased circulating osteocalcin leve... OMIM:619795
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Upper limb muscle weakness, Abnormal macrophage morphology, Gowers sign, Frequent falls, Neck fle... ORPHA:353
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Broad-based gait, Spastic paraparesis, Clinodactyly, Down-sloping shoulders, Cere... ORPHA:391408
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Kyphosis ORPHA:3454
Atypical Rett Syndrome
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Inability t... ORPHA:3095
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Spastic paraparesis, Knee flexion contracture, Loss of ambulation, Babinski sign, Wei... ORPHA:3208
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Failure to thrive, Decreased methionine synthase activity, Hypomethioninemia, ... OMIM:236270
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Exaggerated startle response, Bradycardia OMIM:608800
Oculodentodigital Dysplasia
Spasticity, Clinodactyly, Tetraparesis, 3-4 toe syndactyly, Joint contracture of the 5th finger, ... OMIM:164200
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Tongue fasciculations, CNS hypomyelination, Cataplexy, Secondary microcephaly, Hyp... OMIM:617193
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, De... OMIM:620371
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Spasticity, Cerebellar atrophy, Inability to walk, Tremor, Dystonia, Choreoathetosis OMIM:617664
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Spastic paraparesis, Short toe, Patellar hypoplasia, Hand tremor, Hypogonadism, Flexion contractu... ORPHA:3041
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Incoordination, Speech ... ORPHA:79239
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Elevated circulating carcinoembryonic antigen... ORPHA:100083
Niemann-Pick Disease, Type A
Spasticity, Athetosis, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Splenomegaly... OMIM:257200
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis OMIM:170400
Ataxia-Telangiectasia-Like Disorder 2
Progressive muscle weakness, Muscle weakness, Ataxia OMIM:615919
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:616756
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Weight loss ORPHA:141152
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Difficulty walking... ORPHA:249
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Oculogyric crisis, Cerebellar atrophy, Inability to walk, Chorea, Myoclonus, Hyperkin... OMIM:614254
Familial Acute Necrotizing Encephalopathy
Spasticity, Rigidity, Abnormal putamen morphology, Gliosis, Hypertonia, Cerebral edema, Spastic t... ORPHA:88619
Pyle Disease
Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal widening, Metaphyseal dysplas... OMIM:265900
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Myoclonus, Tremor, Ataxia OMIM:607876
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Myoclonus, Lewy bodies, Rigidity, Dystonia, Parkinsonism, Gliosis, Bradykinesia OMIM:168601
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystonia, Rigi... ORPHA:227510
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Bulbar palsy, Limb muscle weakness, Tremor, Fasciculations OMIM:313200
Primary Progressive Freezing Gait
Shuffling gait, Difficulty walking, Postural tremor, Gait imbalance, Rigidity, Babinski sign, Clo... ORPHA:75567
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Fasciculations, Overlapping toe, Ankle clonus, Babinski sign, Abnormal pyrami... OMIM:618598
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Familial Expansile Osteolysis
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Bowing of the long ... OMIM:174810
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Proximal muscle weakness in lower limbs, Progressive proximal muscle weakness, Distal upper limb ... OMIM:620138
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Spasticity, Hepatic failure, Failure to thrive, Chorea, Gait ataxia, Abnormality o... ORPHA:255210
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Fasciculations, Mildly elevated creatine kinase, Elbow flexion contrac... ORPHA:1143
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Babinski sign, Lower limb spasticity, Decreased s... ORPHA:320375
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Tremor, Rigidity OMIM:176500
Cystathioninuria
Tremor ORPHA:212
Glossopharyngeal Neuralgia
Syncope, Vocal cord paralysis, Bradycardia, Jaw claudication, Dysesthesia ORPHA:221098
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Global brain atrophy, Leukodystrophy, Sudanophilic leukodystrophy, Appendicu... OMIM:260600
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr... OMIM:603278
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Focal Myositis
Weight loss, Muscle weakness ORPHA:48918
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... ORPHA:77297
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Somatic sensory dysfunction, Urinary bladder sphincter dysfunction, Cerebellar v... ORPHA:64753
Pick Disease Of Brain
Gliosis OMIM:172700
Autosomal Dominant Spastic Paraplegia Type 8
Progressive spastic paraplegia, Limb ataxia, Limb dysmetria, Spinal cord lesion, Babinski sign, D... ORPHA:100989
Pelizaeus-Merzbacher Disease In Female Carriers
Spastic paraparesis, CNS hypomyelination, Hand apraxia, Difficulty walking, Inability to walk, Ba... ORPHA:280229
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Splenomegaly, Increased body weight, Progressive muscle weakness, Abnormal ery... ORPHA:264580
Neurodevelopmental Disorder With Involuntary Movements
Involuntary movements, Spasticity, Cerebellar atrophy, Chorea, Hyperkinetic movements, Delayed CN... OMIM:617493
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Spongiform Encephalopathy With Neuropsychiatric Features
Parkinsonism, Cerebral cortex with spongiform changes, Gliosis, Neurofibrillary tangles OMIM:606688
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Neuronal loss in basal ganglia, Focal cortical dysplasia, Cerebral atrophy, Limb dystonia, Gliosi... OMIM:604377
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
Idiopathic Achalasia
Weight loss ORPHA:930
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Tremor, Parkinsonism, Lower limb spasticity ORPHA:3077
Familial Cervical Artery Dissection
Paralysis, Paresthesia ORPHA:36382
Ataxia-Telangiectasia
Spasticity, Elevated circulating hepatic transaminase concentration, Failure to thrive, Aplasia/H... ORPHA:100
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Urinary retention, Pseudobulbar paraly... OMIM:616586
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Sensory axonal neuropathy, Tetraparesis, Camptodactyly of finger, Impaired vibration sensation in... ORPHA:324442
Camurati-Engelmann Disease
Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Me... ORPHA:1328
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Anemia, O... ORPHA:100024
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Limb dystonia, Hyperkinetic movements, W... ORPHA:93958
D-Glyceric Aciduria
Spasticity, Myoclonus, Appendicular spasticity, Opisthotonus, Bradycardia, Spastic tetraplegia OMIM:220120
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Blepharospasm, Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Chorea, Myocl... OMIM:617282
Saccharopinuria
Distal sensory impairment, Gait ataxia, Tremor, Spastic diplegia ORPHA:3124
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Desmoplastic Small Round Cell Tumor
Anemia, Cachexia, Weight loss ORPHA:83469
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Weight loss, Ataxia, Osteolysis ORPHA:391
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne... OMIM:184100
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis OMIM:620007
Cockayne Syndrome B
Optic atrophy, Small for gestational age, Square pelvis bone, Failure to thrive, Limitation of jo... OMIM:133540
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Tremor, Cerebral hypomyelination, Dela... OMIM:612164
Barth Syndrome
Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Cyclic neutropenia, Abnormal m... OMIM:302060
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Bradykinesia, Tremor, Rigidity, Gliosis, Dystonia ORPHA:683
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Ventricular tachycardia, Atrial fibri... OMIM:613873
Kleefstra Syndrome Due To A Point Mutation
Failure to thrive, Large for gestational age, Hypoplasia of the corpus callosum, Microcephaly, Ab... ORPHA:261652
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Orthostatic hypote... OMIM:105210
Kanzaki Disease
Aminoaciduria, Cerebral atrophy, Lymphedema, Increased urinary O-linked sialopeptides, Distal sen... OMIM:609242
Glycogen Storage Disease Iv
Portal hypertension, Cardiomyopathy, Bradycardia OMIM:232500
Whipple Disease
Myoclonus, Splenomegaly, Cachexia, Abnormal pyramidal sign, Ataxia, Anemia, Muscle weakness ORPHA:3452
Polymicrogyria With Optic Nerve Hypoplasia
Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Optic nerv... ORPHA:250972
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, CNS hypomyelination, Failure to thrive, ... ORPHA:300536
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Spasticity, Arm dystonia, Cerebellar atrophy, Sensory axonal neurop... ORPHA:88644
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:1548
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Limb dystonia, Myoclonus, Ga... ORPHA:363400
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... OMIM:602481
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Tremor ORPHA:79234
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Myoclonus, Gait ataxia, Appendicular spasticity, Microcephaly, CNS demyelination, ... OMIM:620451
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Elevated circulating alkaline phos... OMIM:307800
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Sandhoff Disease
Kyphosis ORPHA:796
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ... ORPHA:2097
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Cockayne Syndrome A
Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Hip contracture, Ataxia... OMIM:216400
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis ORPHA:2598
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Gait ataxia, Tremor, Impaired tactile sensation, Hypertonia, Ataxia OMIM:619092
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Spasticity, Failure to thrive, Peripheral demyelination, Hyperammon... OMIM:220111
Reticular Dysgenesis
Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality of neutrophils ORPHA:33355
Congenital Disorder Of Deglycosylation 1
Pain insensitivity, Small hand, Involuntary movements, Elevated circulating hepatic transaminase ... OMIM:615273
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Weight loss, Thrombocytop... ORPHA:507
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly of finger, Met... ORPHA:2774
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Poor coordination, Cerebral atrophy, Spastic tetr... ORPHA:391428
Waardenburg Syndrome, Type 4A
Aganglionic megacolon, Spastic paraparesis, Leukodystrophy, Ataxia OMIM:277580
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Increased circulating antibody level, Weight loss, Hyperinsu... ORPHA:411593
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Cronkhite-Canada Syndrome
Anemia, Cachexia, Splenomegaly ORPHA:2930
Combined Oxidative Phosphorylation Deficiency 53
Spasticity, CNS hypomyelination, Failure to thrive, Secondary microcephaly, Dysplastic corpus cal... OMIM:619423
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callosum, Basal ganglia ... OMIM:312170
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Cachexia, Muscle weakness OMIM:175500
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebral cortical atrophy, Spasticity, Postural tremor, Myoclonus, Splenomegaly, Neuronal loss in... OMIM:301072
Optic Atrophy 11
Optic atrophy, Facial diplegia, Splenomegaly, Dysmetria, Hyperkinetic movements, Cerebellar hypop... OMIM:617302
Caffey Disease
Hyperesthesia, Cortical irregularity, Periosteal thickening of long tubular bones, Increased circ... ORPHA:1310
Aggressive Systemic Mastocytosis
Elevated total serum tryptase, Decreased liver function, Pathologic fracture, Hepatosplenomegaly,... ORPHA:98850
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Intrauterine growth retardation, Small for gestational age, Dysplastic corpus callosum OMIM:620135
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Tetraparesis, Difficulty walking, Fasciculations, Ankle clonus, Abnormal lower motor ... OMIM:613954
Jaberi-Elahi Syndrome
Optic atrophy, Broad-based gait, Cerebellar vermis atrophy, Inability to walk, Gait ataxia, Dysme... OMIM:617988
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Spastic tetraparesis, Neurodegeneration, Chorea, Paralysis, Abnormal pyramidal ... OMIM:272750
Spinocerebellar Ataxia 27A
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula... OMIM:193003
Pontocerebellar Hypoplasia Type 2
Spasticity, Abnormal cortical gyration, Upper limb hypertonia, Paroxysmal dystonia, Hypoplasia of... ORPHA:2524
Spontaneous Periodic Hypothermia
Gait disturbance, Tremor, Ataxia ORPHA:29822
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Cachexia ORPHA:1876
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Periodic paralysis, Muscle weakness OMIM:188580
Hereditary Hyperekplexia
Spasticity, Fasciculations, Joint stiffness, Myoclonus, Rigidity, Gait disturbance, Hypertonia, A... ORPHA:3197
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Inability to walk, Myoclonus, Hyperkinetic movements, Dystonia, Choreoathetosis OMIM:618497
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hemiparesis, Paralysis, Parap... ORPHA:319251
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Olivopontocerebellar atrophy, Rigidity, Tremor, Babinski sign, Parkinsonism, O... OMIM:146500
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Aredyld Syndrome
Short stature, Intrauterine growth retardation, Cachexia, Splenomegaly ORPHA:1133
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Optic atrophy, Spasticity, Elevated circulating hepatic transaminase concentrati... OMIM:619487
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal brainstem morphology... ORPHA:370959
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Parkinson Disease 23, Autosomal Recessive Early-Onset
Spasticity, Resting tremor, Akinesia, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:616840
Oculodentodigital Dysplasia
Spasticity, Toe syndactyly, Spastic paraparesis, Finger syndactyly, Clinodactyly, Short hallux, A... ORPHA:2710
Sialidosis Type 2
Nephropathy, Ascites, Tremor, Ataxia, Hydrops fetalis, Pedal edema ORPHA:87876
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... 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
Cerebral cortical atrophy, Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Ap... OMIM:607485
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Optic atrophy, Spasticity, Cachexia, Demyelinating peripheral neuropathy, Ataxia ORPHA:220295
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Failure to ... ORPHA:1842
Xfe Progeroid Syndrome
Optic atrophy, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cachex... OMIM:610965
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Cerebellar atrophy, Abnormal cerebellum morphology, Gait ataxia, Dysmetria, T... OMIM:618056
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Difficulty... ORPHA:905
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Aceruloplasminemia
Parkinsonism, Torticollis, Ataxia, Decreased circulating ceruloplasmin concentration, Decreased c... ORPHA:48818
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Galactose Epimerase Deficiency
Jaundice, Weight loss ORPHA:79238
Fetal Akinesia Deformation Sequence 4
Short neck, Kyphosis OMIM:618393
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno... ORPHA:166277
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Steppage gait, Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomica... ORPHA:168563
X-Linked Cerebral Adrenoleukodystrophy
Global brain atrophy, Myelopathy, Limb myoclonus, Difficulty walking, Inability to walk, Dysmetri... ORPHA:139396
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Paresthesia, Aplasia/hypoplasia invo... ORPHA:75508
Cockayne Syndrome
Spasticity, Postnatal growth retardation, Basal ganglia calcification, Cerebral calcification, Ac... ORPHA:191
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Rickets, Failu... OMIM:212750
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Abnormal... ORPHA:324964
Poems Syndrome
Hyperesthesia, Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bon... ORPHA:2905
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Choreoacanthocytosis
Resting tremor, Limb dystonia, Acanthocytosis, Loss of ambulation, Peripheral axonal neuropathy, ... ORPHA:2388
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis OMIM:612300
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Non-Functioning Paraganglioma
Cranial nerve compression, Tremor, Weight loss, Vocal cord paralysis, Paraganglioma of head and n... ORPHA:94080
Sneddon Syndrome
Tremor, Chorea, Muscle weakness, Hemiparesis ORPHA:820
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Tremor, Ataxia, Bradykinesia, Poor fine motor coordination ORPHA:36387
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Ataxia, Optic atrophy, Spasticity, Cerebellar atrophy, Resting tremor, Cerebral atrophy, Head tre... ORPHA:314404
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Vocal cord paralysis OMIM:605373
Developmental And Epileptic Encephalopathy 6B
Inability to walk, Chorea, Myoclonus, Hyperkinetic movements, Ataxia, Dystonia, Choreoathetosis OMIM:619317
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Falls, Chorea, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, Abno... ORPHA:13
Stiff-Person Syndrome
Frequent falls, Rigidity, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Tachycard... OMIM:184850
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Small hand, Sandal gap, Cerebellar vermis atrophy, Hypogonadism, Gait ataxia, Tremor, Joint hyper... OMIM:300354
Spinocerebellar Ataxia 36
Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax... OMIM:614153
Rhabdoid Tumor
Cerebral palsy, Oculomotor nerve palsy, Hemiplegia, Weight loss, Thrombocytopenia, Anemia ORPHA:69077
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Abn... OMIM:614886
Snakebite Envenomation
Acute kidney injury, Angioedema, Pseudobulbar paralysis, Respiratory paralysis, Paralysis, Edema ORPHA:449285
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Failure to thrive, Muscle weakness OMIM:617744
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... OMIM:619574
Autoinflammatory-Pancytopenia Syndrome
Granuloma, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia OMIM:619858
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Failure to thrive, Inability to walk, Microcytic anemia, Facial diplegia, Elevated ci... OMIM:612073
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Progressive muscle weakness, Ataxia, Dystonia, Distal muscle weakness OMIM:256810
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis ORPHA:319199
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Waddling gait, Frequent falls, Bradycardia OMIM:620351
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Spastic paraparesis, Cystathioninemia, Failure to thrive, Abnormal circulating enz... ORPHA:395
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension, Bilateral vocal cord paresis OMIM:614653
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Failure to thrive, Cerebral palsy, Appendicular spasticity, Dysplastic corpus callosum, Microceph... OMIM:620001
Erdheim-Chester Disease
Abnormal epiphysis morphology, Osteomyelitis, Xanthelasma, Abnormal cerebellum morphology, Hypogo... ORPHA:35687
Leukodystrophy, Hypomyelinating, 10
Spasticity, CNS hypomyelination, Failure to thrive, Leukodystrophy, Inability to walk, Arachnodac... OMIM:616420
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Extrapyramidal muscular rigidity, Chorea, T... ORPHA:94093
Pachydermoperiostosis
Small hand, Clubbing of toes, Abnormal epiphysis morphology, Limitation of joint mobility, Cerebr... ORPHA:2796
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Urinary incontinence, Impaired vibratory sensation, Resting tremor, Abnormal ... OMIM:601162
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Oculopharyngodistal Myopathy 3
Neck muscle weakness, Limb muscle weakness, Tremor, Ophthalmoplegia, Ataxia OMIM:619473
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Kyphosis OMIM:230650
Glioblastoma
Paralysis ORPHA:360
Autosomal Recessive Spastic Paraplegia Type 20
Impaired vibratory sensation, Spasticity, Spastic paraparesis, Clinodactyly, Speech apraxia, Abno... ORPHA:101000
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Gait ataxia, Dy... ORPHA:225147
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
Hall-Riggs Syndrome
Platyspondyly, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Abnormal brainstem morphology, Gait ataxia... ORPHA:93256
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension, Rigidity OMIM:145600
Perry Syndrome
Short stepped shuffling gait, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia OMIM:168605
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Spasticity, Cerebral cortical atrophy, Partial agenesis of the corpus callosum, My... ORPHA:500144
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Japanese Encephalitis
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... ORPHA:79139
Silver-Russell Syndrome
Failure to thrive in infancy, Postnatal growth retardation, Obesity, Intrauterine growth retardat... ORPHA:813
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Decreased distal sens... ORPHA:99956
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
19Q13.11 Microdeletion Syndrome
Failure to thrive, Intrauterine growth retardation, Microcephaly, Cachexia, Growth delay ORPHA:217346
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis OMIM:300861
Oculopharyngodistal Myopathy 4
External ophthalmoplegia, Postural tremor, Distal muscle weakness, Tremor OMIM:619790
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
X-Linked Intellectual Disability, Cabezas Type
Obesity, Tremor, Microcephaly, Cachexia, Short stature ORPHA:85293
Neuroblastoma
Elevated circulating catecholamine level, Increased circulating lactate dehydrogenase concentrati... ORPHA:635
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Congenital hip dislocation, Spasticity, Optic atrophy, Cerebellar atrophy, Fractures of the long ... ORPHA:496641
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Scoliosis, Kyphosis ORPHA:178148
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Scoliosis, Kyphosis OMIM:259440
Pyruvate Dehydrogenase Deficiency
Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Cerebral palsy, Tremor, Abno... ORPHA:765
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Difficulty walking, Head tremor, Gait ataxia, Spinocerebellar atrophy, Spastic dys... ORPHA:95433
Igg4-Related Pachymeningitis
Abnormality of cervical plexus, Somatic sensory dysfunction, Increased circulating IgG4 level, Ab... ORPHA:449427
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculati... OMIM:620327
Developmental And Epileptic Encephalopathy 46
Failure to thrive, Cerebral atrophy, Tremor, Microcephaly, Limb hypertonia OMIM:617162
Mast Cell Sarcoma
Mastocytosis, Weight loss, Splenomegaly ORPHA:66661
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Spasticity, Optic atrophy, Bone marrow hypocellularity, Leukodystrophy, Pathologic fr... OMIM:612199
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Bradycardia ORPHA:40366
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Tetraplegia, Bradycardia OMIM:610768
Supranuclear Palsy, Progressive, 2
Neuronal loss in basal ganglia, Neurofibrillary tangles, Postural tremor, Retrocollis, Axial dyst... OMIM:609454
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski si... ORPHA:447753
Autosomal Recessive Cutis Laxa Type 2A
Spasticity, Secondary microcephaly, Postnatal growth retardation, Intrauterine growth retardation... ORPHA:357058
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Athetosis, CNS hypom... OMIM:615356
Zika Virus Disease
Myelitis, Skin rash, Infectious encephalitis, Abnormal optic disc morphology, Acute demyelinating... ORPHA:448237
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Gait ataxia, Cerebellar atrophy ORPHA:438134
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Anisocytosis, Dysplastic corpus callosum, Microcephaly, Hypertonia OMIM:604273
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Generalized edema, Increased circulating ferritin concentration, Hemiplegia, Ski... OMIM:603553
Chronic Hiccup
Weight loss ORPHA:396
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Thymic Neuroendocrine Tumor
Osteopenia, Neuroendocrine neoplasm, Increased circulating cortisol level, Increased circulating ... ORPHA:97289
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Failure to thrive, Spastic tetraparesis, Hypoplasia of the corpus callosum, ... OMIM:614924
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the brainstem, ... ORPHA:572798
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Spasticity, Brain atrophy, Tremor OMIM:618718
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis OMIM:618234
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Slender finger, Cerebellar atrophy, Decreased body weight, Hyperkinetic movements, Adducted thumb... OMIM:300243
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis OMIM:618237
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Cerebellar vermis hypoplasia, Osteopenia, Dilated fourth ventricle, Dysmetria, Cerebellar... OMIM:212065
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Decreased serum te... ORPHA:465508
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis ORPHA:1875
Necrotizing Enterocolitis
Shock, Hypotension, Bradycardia ORPHA:391673
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Progressive proximal muscle weakness, Muscle weakness ORPHA:368
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Encephalitis Lethargica
Parkinsonism, Tremor, Bradycardia ORPHA:83600
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Scoliosis, Kyphosis OMIM:611890
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis OMIM:614898
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Sandal gap, Failure to thrive in infancy, Decreased nerve conduction velocity, ... ORPHA:477817
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Epilepsy, Progressive Myoclonic, 10
Spasticity, Myoclonus, Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia OMIM:616640
Alveolar Echinococcosis
Cutaneous abscess, Decreased liver function, Portal hypertension, Hemiparesis, Increased circulat... ORPHA:284
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations OMIM:271200
Neutral Lipid Storage Myopathy
Gowers sign, Shoulder girdle muscle weakness, Fasciculations, Neck muscle weakness, Progressive d... ORPHA:98908
Developmental And Epileptic Encephalopathy 72
Inability to walk, Delayed CNS myelination, Hyperkinetic movements OMIM:618374
Chediak-Higashi Syndrome
Ataxia, Hemophagocytosis, Muscle weakness, Leukopenia, Giant neutrophil granules, Splenomegaly, F... OMIM:214500
Mohr-Tranebjaerg Syndrome
Dystonia, Spasticity, Tremor OMIM:304700
Thymic Carcinoma
Diaphragmatic paralysis, Weight loss, Fatigable weakness ORPHA:99868
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Foot acroosteolysis, Painless fractures due to injury, Autoamputation of digits, Decreased nerve ... OMIM:201300
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Failure to thrive, Tremor, Babinski sign, Limb hypertonia, Poor head control, ... ORPHA:35708
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Bradycardia OMIM:618775
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Reduced renal corticomedullary differentiation, Peripheral hypomyelina... OMIM:618733
Fryns-Smeets-Thiry Syndrome
Short stature, Microcephaly, Cachexia ORPHA:2058
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Abnormal metaphysis m... ORPHA:2484
Asparagine Synthetase Deficiency
Cerebellar vermis hypoplasia, Global brain atrophy, Hypoplasia of the pons, Hypoplasia of the bra... OMIM:615574
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Progressive proximal muscle weakness, Abnormal granulocyte morphology, Shoulder girdle mu... ORPHA:98907
D-Bifunctional Protein Deficiency
Cerebral hypoplasia, Failure to thrive, Polymicrogyria, Splenomegaly, Hypoplasia of the corpus ca... OMIM:261515
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperostosis OMIM:176920
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Limb fasciculations, Lim... OMIM:603516
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, CNS hypomyelination, Dysmetria, Tremor, Babinski sign, Ataxia, Op... OMIM:618527
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fasciculations, Difficulty walking, Decreased nerve conduction velocity, Facial diplegia, Tremor,... ORPHA:329478
Cerebral Visual Impairment
Optic atrophy, Central nervous system degeneration, Cerebral palsy, Neurodegeneration, Infectious... ORPHA:447788
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... OMIM:208900
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Erythrokeratodermia Variabilis
Weight loss, Diabetes mellitus, Brachydactyly, Tapered finger ORPHA:317
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ophthalmoparesis, Slender build, Progressive external ophthalmoplegia, Cachexia, Weight loss, Dis... OMIM:603041
Refractory Celiac Disease
Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration, Muscle wea... ORPHA:713
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly ORPHA:86893
Osteogenesis Imperfecta
Tetraparesis, Abnormal tibia morphology, Genu valgum, Decreased skull ossification, Bowing of the... ORPHA:666
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Failure to thrive, Goite... ORPHA:525731
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis ORPHA:86884
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Tremor, Hypertonia, Decreased circulating nicotinamide adenine dinucleotide-cytochr... OMIM:250800
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Abnormal cortical ... ORPHA:1486
Nephrotic Syndrome, Type 8
Chronic kidney disease, Generalized edema, Thin glomerular basement membrane, Hypoalbuminemia, St... OMIM:615244
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cerebral cortical atrophy, Oligohydramnios, 3-Methylglutaconic aciduria, Infectious encephalitis,... ORPHA:1194
Lipodystrophy, Congenital Generalized, Type 4
Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia OMIM:613327
Familial Colorectal Cancer Type X
Pituitary adenoma, Paresthesia, Neoplasm of the thyroid gland, Hemiplegia/hemiparesis, Abnormal p... ORPHA:440437
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:618484
Continuous Spikes And Waves During Sleep
Hyperkinetic movements, Speech apraxia, Clumsiness, Dystonia ORPHA:725
Congenital Myopathy 15
Vocal cord paralysis, Waddling gait OMIM:620161
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Weight loss, Elevated circulating ... ORPHA:90003
Zimmermann-Laband Syndrome 3
Kyphosis OMIM:618658
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Rhizomelia, Cerebellar atrophy, Leukopenia, Myoclonus, Tremor, Hyperkinetic movements... OMIM:616271
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Chemodectoma, Carotid paraganglioma, Adrenal pheochromocytoma, Vocal cord pa... OMIM:168000
Myopathy, Mitochondrial, And Ataxia
Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Tremor,... OMIM:617675
Combined Oxidative Phosphorylation Deficiency 39
Involuntary movements, Spasticity, Ankle clonus, Sinus bradycardia, Babinski sign OMIM:618397
Hydroxykynureninuria
Tachycardia, Hypotension, Hypertonia ORPHA:79155
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Fasciculations, Abnormal lower motor neuron morphology, Babinski sign, Abnormal pyram... OMIM:602099
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Sensory axonal neuropathy, Mildly elevated creatine kinase, Positive Romberg si... OMIM:607459
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Tremor, Abnormality of extrapyramidal motor function, Pulmonary arterial hypertensio... OMIM:277400
Osteootohepatoenteric Syndrome
Failure to thrive, Avascular necrosis of the capital femoral epiphysis, Increased serum bile acid... OMIM:619377
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Spasticity, Spastic paraparesis, Cerebral palsy, Abnormal central motor function, L... ORPHA:760
Ullrich Congenital Muscular Dystrophy
Short neck, Scoliosis, Kyphosis, Spinal rigidity ORPHA:75840
Proximal Spinal Muscular Atrophy
Difficulty walking, Tongue fasciculations, Inability to walk, Bradycardia ORPHA:70
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Abnormal pyramidal sign, Ataxia, Tip-toe gait, Dystonia, Elevated pl... ORPHA:3008
Scrub Typhus
Renal insufficiency, Skin rash, Tremor, Infectious encephalitis, Myocarditis, Anterior uveitis ORPHA:83317
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Flared metaphysis, Decreased fibular diameter, Decreased skull ossification, Cerebell... OMIM:616897
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar vermis hypoplasia, Spasticity, Optic atrophy, Cerebellar atrophy, Gait ataxia, Loss of... OMIM:620089
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ... OMIM:610217
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Poor coordination, Ketonuria, Cerebral atrophy, Neurodegeneration, Gait ataxia, El... OMIM:616878
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Intrauterine growth retardation, Anencephaly, Microcep... ORPHA:3380
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Myoclonus, Ganglioneuroma, Weight loss, Spinal cord compression, Ataxia, Anemia OMIM:256700
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... OMIM:156530
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Failure to thrive, Gra... ORPHA:199299
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Sjogren-Larsson Syndrome
Spasticity, Spastic paraparesis, CNS demyelination, Flexion contracture OMIM:270200
Lymphoproliferative Syndrome, X-Linked, 2
Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Arthrogryposis-like hand anomaly, Spastic paraparesis, Clinodactyly, Incoordination, Ataxia, Camp... ORPHA:369891
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Kyphosis ORPHA:2181
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Kyphosis OMIM:618124
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Hypertonia, Neutropenia ORPHA:79477
Bruck Syndrome
Platyspondyly, Scoliosis, Kyphosis ORPHA:2771
Tbck-Related Intellectual Disability Syndrome
Progressive muscle weakness ORPHA:488632
Hyperkalemic Periodic Paralysis
Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresthesia, Elevated circulatin... ORPHA:682
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Dysmetria OMIM:615578
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating copper concentration, Fasciculations, Impaired vibration sensation in the lo... ORPHA:521411
Dworschak-Punetha Neurodevelopmental Syndrome
Agenesis of corpus callosum, Dysplastic corpus callosum, Peripheral axonal neuropathy, Colpocepha... OMIM:619955
Lujo Hemorrhagic Fever
Hypotension, Resting tremor, Shock, Bradycardia, Myocarditis, Subconjunctival hemorrhage ORPHA:319213
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Typhoid
Skin rash, Tremor, Infectious encephalitis, Hypertonia, Ataxia ORPHA:99745
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Peripheral axonal neuropathy, Ataxia, Bradykinesia, Goiter, Cogwheel rigidity, Fa... ORPHA:254892
Immunoglobulin A Vasculitis
Optic atrophy, Angioedema, Renal insufficiency, Episcleritis, Hemiplegia/hemiparesis, Skin rash, ... ORPHA:761
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Global brain atrophy, Tetraparesis, Cerebellar edema, Rigidity, Tremor, Torticollis, Ataxia, Brai... OMIM:617186
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Generalized edema, Increased circulating ferritin concentration, Hemiplegia, Hyp... OMIM:267700
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co... OMIM:619638
Meningococcal Meningitis
Paresthesia, Renal insufficiency, Skin rash, Infectious encephalitis, Papilledema, Elevated circu... ORPHA:33475
Avian Influenza
Pneumonia, Hypoalbuminemia, Acute kidney injury, Myelitis, Hepatitis, Pleural effusion, Infectiou... ORPHA:454836
Sandhoff Disease
Ataxia, Spasticity, CNS hypomyelination, Fasciculations, Impaired temperature sensation, Hepatosp... OMIM:268800
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Angioedema, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encep... ORPHA:139402
L-2-Hydroxyglutaric Aciduria
Spastic tetraparesis, Infectious encephalitis, Abnormality of extrapyramidal motor function ORPHA:79314
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Clubbing of toes, Weight loss ORPHA:2198
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Optic atrophy, Spasticity, Global brain atrophy, Blepharospasm, Neurodegeneration, Akines... OMIM:234200
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis OMIM:300676
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:2617
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis ORPHA:816
Nipah Virus Disease
Myoclonus, Tremor, Infectious encephalitis ORPHA:99825
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal pyramidal... ORPHA:309246
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Babinski sign, Mitochondri... OMIM:500013
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Lysosomal Acid Lipase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... ORPHA:275761
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Tongue fasciculations, Fasciculations OMIM:613435
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Autoimmune hemolytic anemia, Splenomegaly, Cachexia, Iron deficienc... ORPHA:37042
Legionnaires Disease
Hepatitis, Renal insufficiency, Infectious encephalitis, Hematuria, Proteinuria, Pancreatitis, At... ORPHA:549
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Bruck Syndrome 1
Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis OMIM:259450
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Progressive distal muscle weakness, Lower limb muscle weakness, Proximal muscle weakness ORPHA:397744
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations OMIM:608030
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypoalbuminemia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Osteomyelit... ORPHA:36234
Alexander Disease
Precocious puberty, Osteopenia, Spasticity, Failure to thrive, Chorea, Tremor, Abnormal pyramidal... ORPHA:58
Stüve-Wiedemann Syndrome
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion... ORPHA:3206
Niemann-Pick Disease, Type C1
Spasticity, Cataplexy, Sea-blue histiocytosis, Gait ataxia, Splenomegaly, Ataxia, Dystonia, Bone-... OMIM:257220
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Upper limb undergrowth, Dysplasia of the f... ORPHA:94068
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spastic paraplegia, Abnormality of the spleen, Hepatosplenomegaly, Limb ataxia, Pancytopenia, Spl... ORPHA:2072
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter morphology, Perivent... OMIM:616900
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Incr... ORPHA:289176
Myopathy, Centronuclear, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:255200
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, ... ORPHA:199351
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Delayed CNS myelination, Recurrent skin infections, Recurrent urinary tract in... OMIM:620210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Spasticity, Lateral ventricle dilatation, Secondary microcephaly, Larg... OMIM:300868
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Fa... ORPHA:567546
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Large for gestational age, Hypophosphate... ORPHA:263455
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Kyphosis OMIM:130060
Hyperlysinemia
Poor motor coordination, Hypoornithinemia, Tip-toe gait, Failure to thrive, Abnormal circulating ... ORPHA:2203
Tick-Borne Encephalitis
Tongue fasciculations, Incoordination, Speech apraxia, Abnormal cranial nerve morphology, Elevate... ORPHA:297
Hartnup Disease
Neutral hyperaminoaciduria, Abnormal urinary color, Skin rash, Infectious encephalitis, Ataxia ORPHA:2116
X-Linked Agammaglobulinemia
Hepatitis, Failure to thrive, Osteomyelitis, Hypocalcemia, Agammaglobulinemia, Weight loss, Throm... ORPHA:47
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Pachygyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Mic... OMIM:619179
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc coloboma, Hors... OMIM:120330
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Parkinsonism, Neutropenia, Ataxia, Jaundice, ... ORPHA:167
Nijmegen Breakage Syndrome
Acute leukemia, Glioma, Autoimmune hemolytic anemia, Microcephaly, Cachexia, Thrombocytopenia, Sh... ORPHA:647
Amyotrophic Lateral Sclerosis 1
Spasticity, Pseudobulbar paralysis, Degeneration of anterior horn cells, Fasciculations OMIM:105400
Superficial Siderosis
Functional abnormality of the bladder, Impaired pain sensation, Cerebellar atrophy, Abnormality o... ORPHA:247245
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Increased circulating prolactin concentration, Difficulty walking, M... ORPHA:502423
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Cranial nerve compression, Tremor, Adrenal pheochromocytoma, Weigh... ORPHA:276621
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis OMIM:616455
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Failure to thrive, Impaired T cell function, Tetraparesis, Lymphopenia, Abnormality... OMIM:613179
12Q14 Microdeletion Syndrome
Chiari malformation, Failure to thrive, Abnormality of the spleen, Tremor, Clinodactyly of the 5t... ORPHA:94063
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Pyruvate Dehydrogenase E2 Deficiency
Arm dystonia, Broad-based gait, Difficulty walking, Speech apraxia, Neurodegeneration, Paroxysmal... ORPHA:79244
Multiple Acyl-Coa Dehydrogenase Deficiency
Pachygyria, Gliosis, Neonatal death OMIM:231680
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Kyphosis ORPHA:1883
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae ORPHA:2522
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Tremor, Aganglionic megacolon, Oculomotor apraxia, Gait disturbance... ORPHA:220497
Holocarboxylase Synthetase Deficiency
Weight loss, Hyperammonemia, Thrombocytopenia, Ataxia ORPHA:79242
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Lower limb muscle weakness, Generalized muscle weakness, Diaphragmatic weaknes... ORPHA:365
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutrophil co... ORPHA:3226
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Myelitis, Involuntary movements, Abnormal basal ganglia morph... ORPHA:83597
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity OMIM:615084
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Impaired T cell function, Hypogonadism, Decreased serum testosterone concentra... OMIM:201100
Joubert Syndrome With Hepatic Defect
Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concentration, Occipital ... ORPHA:1454
Arnold-Chiari Malformation Type I
Myelopathy, Somatic sensory dysfunction, Cranial nerve compression, Dysesthesia, Abnormality of t... ORPHA:268882
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hepatitis, Tetraparesis, Increased circulating ferritin concentration, Pancyt... OMIM:615846
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Spasticity, Basal ganglia calcification, Cerebral calcification, Myoclonus, Dyspla... OMIM:617281
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Oculopharyngodistal Myopathy 1
Ataxia, External ophthalmoplegia, Ophthalmoparesis, Foot dorsiflexor weakness, Tremor, Proximal m... OMIM:164310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:606612
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Failure to... ORPHA:17
Cystic Echinococcosis
Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transa... ORPHA:400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Elevated total serum tryptase, Chronic myelomonocytic leukemia, Leukocytosis, ... ORPHA:98849
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Genu valgum, Hip contracture, Decreased body weight, Bowing o... ORPHA:800
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Kyphosis OMIM:615834
3-Hydroxy-3-Methylglutaric Aciduria
Spasticity, Elevated circulating hepatic transaminase concentration, Leukopenia, Thrombocytosis, ... ORPHA:20
Say-Barber-Miller Syndrome
Optic atrophy, Decreased circulating IgG level, Spastic paraparesis, Patellar hypoplasia, Elbow f... ORPHA:3132
Porphyria, Acute Intermittent
Urinary retention, Paresthesia, Respiratory paralysis, Paralysis, Urinary incontinence, Elevated ... OMIM:176000
Joubert Syndrome
Cerebellar vermis hypoplasia, Encephalocele, Tremor, Aganglionic megacolon, Hand polydactyly, Ocu... ORPHA:475
Dpagt1-Cdg
Optic atrophy, Elevated circulating hepatic transaminase concentration, CNS hypomyelination, Clin... ORPHA:86309
Hirschsprung Disease
Failure to thrive in infancy, Neoplasm of the thyroid gland, Aganglionic megacolon, Weight loss, ... ORPHA:388
Felty Syndrome
Bone marrow hypocellularity, Limitation of joint mobility, Abnormal lymphocyte morphology, Spleno... ORPHA:47612
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Elevated circulating creatine kinase concentration, Fasciculations OMIM:619733
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Aplastic anemia, Pate... ORPHA:221008
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Fatal Familial Insomnia
Weight loss, Myoclonus, Abnormal autonomic nervous system physiology, Ataxia OMIM:600072
Chromosome 18Q Deletion Syndrome
Optic atrophy, Broad-based gait, Toe syndactyly, Failure to thrive in infancy, Decreased response... OMIM:601808
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Failure to thrive in infancy, Hypoplasia... ORPHA:488627
Gabriele-De Vries Syndrome
Intrauterine growth retardation, Tremor, Hypoplasia of the corpus callosum, Agenesis of corpus ca... ORPHA:506358
Wolfram Syndrome 1
Optic atrophy, Limited mobility of proximal interphalangeal joint, Sideroblastic anemia, Tremor, ... OMIM:222300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis OMIM:607155
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Scoliosis, Kyphosis OMIM:619797
Mucopolysaccharidosis, Type Iva
Platyspondyly, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck, Hyperlordosis, An... OMIM:253000
Intellectual Developmental Disorder, X-Linked, Syndromic 35
2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Central hypothyroidism, Contracture o... OMIM:300998
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Muscle weakness, Abdominal wall muscle weakness ORPHA:109
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
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Brody Disease
Flexion contracture, Somatic sensory dysfunction, Fasciculations OMIM:601003
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... OMIM:612716
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Decreased circulating IgG level, Decreased ci... OMIM:612301
Graves Disease
Weight loss, Muscle weakness OMIM:275000
Myofibrillar Myopathy 10
Kyphosis OMIM:619040
Follicular Lymphoma
Weight loss, Splenomegaly ORPHA:545
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ... ORPHA:2658
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal... ORPHA:1860
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs, Neutrop... ORPHA:221016
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Paresthesia, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Nocturia, Paresthesia, Paralysis, Polyuria, Ata... OMIM:263800
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, T2 hypointense basal ganglia, Open operculum, Chorea, Abnormal basal gan... ORPHA:25
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Peripheral axonal neuropathy, Spasticity, Neonatal death OMIM:618810
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Increased circulating lactate dehydrogenase concentration, Somatic sensory dy... ORPHA:370348
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Skin rash, Infectious encephalitis... ORPHA:540
Seckel Syndrome
Short stature, Intrauterine growth retardation, Cachexia, Microcephaly ORPHA:808
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Encephalocele, Tremor, Aganglionic megacolon, Hand polydactyly, Ocu... ORPHA:220493
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Camptodactyly ... ORPHA:468631
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Becker Nevus Syndrome
Spina bifida occulta, Scoliosis, Kyphosis ORPHA:64755
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Fasciculations OMIM:616437
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Cerebellar vermis hypoplasia, Spasticity, Osteopenia, Cerebellar atrophy, Gait imbalance,... OMIM:300966
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
African Trypanosomiasis
Myelopathy, Difficulty walking, Hemiparesis, Urinary incontinence, Choreoathetosis, Involuntary m... ORPHA:3385
Inhalational Botulism
Paralysis ORPHA:254504
Giant Cell Arteritis
Optic atrophy, Hepatic failure, Joint stiffness, Paresthesia, Weight loss, Arthritis, Ataxia, Dia... ORPHA:397
Ruvalcaba Syndrome
Scoliosis, Kyphosis OMIM:180870
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Elevated circulating hepatic transaminase concentration, Weight loss ORPHA:65682
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Wilson Disease
Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, Elevated ci... OMIM:277900
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity ORPHA:352447
Myopathy, Myofibrillar, 2
Elevated circulating creatine kinase concentration, Fasciculations OMIM:608810
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Elevated circulating hepatic transaminase concentration, Foot j... ORPHA:90321
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Obesity, Gait imbalance, Myoclonus, Limitation of movement at ankles, Tremor, A... ORPHA:98794
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia, Muscl... ORPHA:520
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Weight loss, Anemia ORPHA:514
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia ORPHA:1578
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Failure to thrive, Joint stiff... OMIM:620494
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Kyphoscoliosis ORPHA:536516
Argininemia
Spastic paraparesis, Cerebellar atrophy, Progressive spastic quadriplegia, Spastic gait, Frequent... OMIM:207800
Alg1-Cdg
Scoliosis, Kyphosis ORPHA:79327
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Congenital Disorder Of Glycosylation, Type Ij
Elevated circulating hepatic transaminase concentration, Tremor, Jaundice, Hypertonia, Clinodacty... OMIM:608093
Amyotrophic Lateral Sclerosis 18
Spasticity, Fasciculations OMIM:614808
Niemann-Pick Disease Type C
Leukodystrophy, Speech apraxia, Limb dystonia, Axial dystonia, Frontal cortical atrophy, Abnormal... ORPHA:646
Crisponi Syndrome
Scoliosis, Kyphosis ORPHA:1545
Beta-Ketothiolase Deficiency
Ataxia, Spasticity, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Ext... ORPHA:134
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Spasticity, Failure to thrive, Cerebral atrophy, Neonatal death, Delayed CNS myelination, Gliosis... OMIM:124000
Isolated Thyroid-Stimulating Hormone Deficiency
Clumsiness, Bradycardia ORPHA:90674
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Decreased body ... ORPHA:2298
Anaplastic Thyroid Carcinoma
Weight loss, Vocal cord paralysis ORPHA:142
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Bradycardia ORPHA:91355
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Neonatal alloimmune thrombocytopenia, Leukodystrophy, Difficulty... ORPHA:51
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Elevated circulating hepatic transaminase concentration, Abnormal circulati... ORPHA:79095
Pfapa Syndrome
Weight loss, Splenomegaly ORPHA:42642
Subaortic Stenosis-Short Stature Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:3191
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Kallmann Syndrome
Anterior hypopituitarism, Paraplegia, Obesity, Hypothalamic gonadotropin-releasing hormone defici... ORPHA:478
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Hereditary Pheochromocytoma-Paraganglioma
Cranial nerve compression, Tremor, Adrenal pheochromocytoma, Paraganglioma, Vocal cord paralysis,... ORPHA:29072
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste... OMIM:617952
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Scoliosis, Kyphosis ORPHA:137834
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Gait imbalance, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia, Tr... OMIM:211530
Full Schwannomatosis
Peripheral schwannoma, Fasciculations, Schwannoma, Paresthesia, Neoplasm of the anterior pituitar... ORPHA:93921
Riddle Syndrome
Decreased circulating IgG level, Poor hand-eye coordination, Decreased circulating IgA level, Clu... ORPHA:420741
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus... ORPHA:2916
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Congenital Enterovirus Infection
Hypoalbuminemia, Fetal ascites, Hepatitis, Pleural effusion, Skin rash, Polyhydramnios, Infectiou... ORPHA:292
Osteogenesis Imperfecta, Type X
Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Tibial bowing, Decreased calvari... OMIM:613848
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Abnorm... ORPHA:1163
Mitochondrial Complex I Deficiency, Nuclear Type 2
Dystonia, Gliosis, Ankle clonus OMIM:618222
Hyperparathyroidism, Transient Neonatal
Osteopenia, Fractured rib, Hyperparathyroidism, Metaphyseal spurs, Femoral bowing, Splenic cyst, ... OMIM:618188
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Weight loss, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Tremor, Elevated circulating alkaline ph... ORPHA:69665
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Sialuria
Elevated circulating hepatic transaminase concentration, Long hallux, Hepatosplenomegaly, Joint h... ORPHA:3166
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Alpha-Mannosidosis
Short neck, Scoliosis, Kyphosis ORPHA:61
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Behçet Disease
Hemiparesis, Abnormal pyramidal sign, Ataxia, Endocarditis, Renal insufficiency, Pleural effusion... ORPHA:117
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Scoliosis, Kyphosis OMIM:609541
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly OMIM:615122
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... OMIM:620430
Listeriosis
Pneumonia, Acute kidney injury, Arteritis, Somatic sensory dysfunction, Osteomyelitis, Pyelonephr... ORPHA:533
Hurler Syndrome
Abnormal nerve conduction velocity, Spastic paraparesis, Abnormal epiphysis morphology, Limitatio... ORPHA:93473
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis OMIM:254450
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Obesity, Tremor, Respiratory paralysis, Paralysis, Weight loss, Tet... ORPHA:79102
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Takayasu Arteritis
Anemia, Weight loss, Muscle weakness ORPHA:3287
Gaucher Disease
Pancytopenia, Increased circulating antibody level, Polyclonal elevation of IgM, Ataxia, Elevated... ORPHA:355
Neurocutaneous Melanocytosis
Renal hypoplasia/aplasia, Infectious encephalitis, Syringomyelia, Hemiparesis ORPHA:2481
Rheumatoid Arthritis
Rheumatoid arthritis, Joint stiffness, Interphalangeal joint erosions, Weight loss, Elevated circ... OMIM:180300
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations OMIM:619141
Chronic Beryllium Disease
Weight loss, Abnormal proportion of CD4-positive T cells ORPHA:133
Multiple Acyl-Coa Dehydrogenase Deficiency
Gliosis ORPHA:26791
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers, Impaired temperature sensation, Pai... ORPHA:64752
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:252605
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Spasticity, Cerebellar atrophy, Cerebral atrophy, Vesicoureteral reflux, Tremor, Hydronephrosis, ... OMIM:614080
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... OMIM:183900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cerebral cortical atrophy, CNS hypomyelination, Failure to thrive in infancy, Intrauterine growth... ORPHA:268261
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Increased circulating prolactin concentration, Central adrenal insu... ORPHA:91347
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Limited elbow extensi... OMIM:100800
Central Diabetes Insipidus
Weight loss, Failure to thrive ORPHA:178029
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Microcephaly, Growth delay OMIM:618010
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis OMIM:619338
Addison Disease
Adrenal calcification, Weight loss, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insuffici... ORPHA:85138
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Spastic paraplegia, Optic atrophy, Cerebral cortical atrophy, Recurrent urinary tract infections,... ORPHA:847
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, Spina bifida oc... ORPHA:2311
4Q21 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:238750
Citrullinemia Type Ii
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased body mass ind... ORPHA:247585
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronis... ORPHA:171876
Diastrophic Dysplasia
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies ORPHA:628
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Rhizomelia, Sandal gap, Short tibia, Failure to thrive, Decrease... OMIM:607143
Acute Intermittent Porphyria
Urinary retention, Somatic sensory dysfunction, Pseudobulbar paralysis, Dark urine, Increased uri... ORPHA:79276
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Hemiballismus, Chorea, Equinus calcaneus, Joint hypermobility, 2-3 toe syndactyly, Hyperkinetic m... ORPHA:522077
Bohring-Opitz Syndrome
Short toe, Failure to thrive, Overlapping toe, Mesomelic/rhizomelic limb shortening, Delayed peri... OMIM:605039
Atelosteogenesis Type Ii
Genu valgum, Broad phalanx, Bilateral talipes equinovarus, Short metacarpal, Tibial torsion, Rhiz... ORPHA:56304
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Toe syndactyly, Spastic paraparesis, Decreased response to growth hormone stimulation test, Long ... OMIM:619234
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Polyarteritis Nodosa
Weight loss, Polyneuritis, Sensory axonal neuropathy ORPHA:767
Rheumatic Fever
Fasciculations, Chorea, Gait disturbance, Arthritis, Hemiballismus ORPHA:3099
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Developmental Malformations-Deafness-Dystonia Syndrome
Scoliosis, Kyphosis ORPHA:79107
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Spasticity, Failure to thrive, Microcephaly, Short corpus callosum, Gliosis, Hypertonia, Short st... OMIM:620455
Polymyositis
Elevated circulating creatine kinase concentration, Elevated circulating aldolase concentration, ... ORPHA:732
Attrv30M Amyloidosis
Weight loss, Abnormal autonomic nervous system physiology ORPHA:85447
Arthrogryposis, Distal, Type 5
Scoliosis, Kyphosis OMIM:108145
Episodic Ataxia Type 7
Hyperkinetic movements, Episodic ataxia ORPHA:209970
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:300280
Marburg Hemorrhagic Fever
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... ORPHA:99826
Benign Samaritan Congenital Myopathy
Fasciculations ORPHA:324581
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Oculoskeletodental Syndrome
Short stature, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Lymphopenia, Decreased circulat... ORPHA:90362
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Spasticity, Difficulty walking, Neurodegeneration, Rigidity, Agenesis of corpus ca... OMIM:618476
Arthrogryposis, Distal, Type 4
Lumbar scoliosis, Scoliosis, Kyphosis OMIM:609128
Brucellosis
Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Elevated circulating C-rea... ORPHA:1304
Niemann-Pick Disease, Type C2
Spasticity, Cataplexy, Sea-blue histiocytosis, Splenomegaly, Ataxia, Dystonia, Bone-marrow foam c... OMIM:607625
Foix-Alajouanine Syndrome
Cervical myelopathy, Myelopathy, Somatic sensory dysfunction, Progressive spastic paraparesis, Di... ORPHA:79093
3-Methylglutaconic Aciduria, Type Viii
Tremor, Clonus, Hypertonia, Bradycardia OMIM:617248
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Wiedemann-Rautenstrauch Syndrome
Spasticity, Leukodystrophy, Increased circulating prolactin concentration, Slender build, Increas... ORPHA:3455
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Failure to thrive, Finger clinodactyly, Preaxial polydactyly, Tremo... ORPHA:2754
Lyme Disease
Paresthesia, Joint swelling, Infectious encephalitis, Arthritis, Uveitis ORPHA:91546
Scheie Syndrome
Abnormal nerve conduction velocity, Spastic paraparesis, Limitation of joint mobility, Cerebral p... ORPHA:93474
Multiple Myeloma
Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Paresthesia, Sple... ORPHA:29073
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Spasticity, Glycosuria, Tremor, Renal tubular dysfunction, Babinski sign, Delayed CNS myelination... OMIM:616539
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... ORPHA:83451
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Failure to thrive, Pachygyria, Polymicrogyria ORPHA:2328
Dent Disease
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Bulging epiphyses, Osteomalacia... ORPHA:1652
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Spasticity, Lateral ventricle dilatation, Periventricular cysts, Large for gestational age, Dyspl... ORPHA:544488
Cryptogenic Organizing Pneumonia
Weight loss, Leukocytosis, Neutrophilia ORPHA:1302
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Andersen-Tawil Syndrome
Renal hypoplasia, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Hyperaldosteroni... ORPHA:37553
Young-Onset Parkinson Disease
Spasticity, Bradykinesia, Gait imbalance, Tremor, Rigidity, Abnormal autonomic nervous system phy... ORPHA:2828
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Pleural Mesothelioma
Weight loss ORPHA:50251
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Small for gestational age, Hand tremor ORPHA:424
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Hemifacial sp... ORPHA:466677
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Recurrent otitis media, Heparan sulfate excretion in urine, Neurodegeneratio... OMIM:309900
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Optic nerve compression, Reduced bone mineral density, Splenomegal... ORPHA:667
Thanatophoric Dysplasia
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Biotinidase Deficiency
Optic atrophy, Spastic paraparesis, Myelopathy, Hyperammonemia, Decreased circulating biotinidase... ORPHA:79241
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
Mucolipidosis Type Ii
Limitation of joint mobility, Limited wrist movement, Inability to walk, Decreased movement range... ORPHA:576
Bohring-Opitz Syndrome
Inability to walk, Lower limb hypertonia, Bradycardia ORPHA:97297
Eosinophilic Gastroenteritis
Anemia, Eosinophilia, Weight loss, Leukocytosis ORPHA:2070
Spondyloocular Syndrome
Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly, Femur fracture, Long toe, Lon... OMIM:605822
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Patellar aplasia, Talocalca... OMIM:147891
Juvenile Polyposis Of Infancy
Short stature, Cachexia, Anemia, Refractory anemia ORPHA:79076
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Small hand, Incoordination, Obesity, Tremor, Abnormal pyramidal sign, Ataxia, Opti... OMIM:614947
Typical Nemaline Myopathy
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity ORPHA:171436
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Kyphoscoliosis, Abnormal curvature of the vertebral column... ORPHA:93360
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Increased circu... ORPHA:97287
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the urinary system physiology, Keratoconjunctivitis, Pr... ORPHA:2552
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple OMIM:618291
Neuroendocrine Tumor Of The Colon
Elevated circulating hepatic transaminase concentration, Carcinoid tumor, Weight loss, Atypical p... ORPHA:100080
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Short neck, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98863
Helsmoortel-Van Der Aa Syndrome
Failure to thrive, Lateral ventricle dilatation, Intrauterine growth retardation, Obesity, Gliosi... OMIM:615873
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Aganglionic megacolon, Low pla... ORPHA:95427
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:582
American Trypanosomiasis
Periorbital edema, Skin rash, Infectious encephalitis, Myocarditis, Edema ORPHA:3386
Gallbladder Neuroendocrine Tumor
Elevated gamma-glutamyltransferase level, Neuroendocrine neoplasm, Intermittent jaundice, Weight ... ORPHA:100086
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98855
Srd5A3-Cdg
Abnormal sacrum morphology, Kyphosis ORPHA:324737
Early Infantile Epileptic Encephalopathy
Precocious puberty, Spasticity, Cerebellar atrophy, Failure to thrive, Short finger, Episodic ata... ORPHA:1934
Wieacker-Wolff Syndrome
Kyphosis, Short neck, Scoliosis, Hyperlordosis OMIM:314580
Eosinophilic Granulomatosis With Polyangiitis
Hemiplegia/hemiparesis, Eosinophilia, Gait disturbance, Weight loss, Arthritis ORPHA:183
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormal shoulder morphology, Abnormal hip joint morphology, Hepatosplenomega... ORPHA:85408
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Spinal canal stenos... ORPHA:15
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis ORPHA:684
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Weight loss, Hip dislocation, A... ORPHA:84
Encephalocraniocutaneous Lipomatosis
Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Hemiplegia, Rigidity, Hemiparesis, Paral... ORPHA:2396
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Peripheral axonal neuropathy, Ap... ORPHA:99885
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g... ORPHA:99867
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
Short Syndrome
Joint hypermobility, Weight loss, Brachydactyly, Diabetes mellitus, Short palm ORPHA:3163
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Developmental And Epileptic Encephalopathy 89
Spasticity, Cerebellar atrophy, Tetraparesis, Hyperkinetic movements, Talipes equinovarus, Limb u... OMIM:619124
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Zygomycosis
Nephritis, Periorbital edema, Hepatitis, Fasciitis, Renal insufficiency, Abnormal cranial nerve m... ORPHA:73263
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Decreased number of large peripheral myelinated nerve fibers, Glomerular sclerosi... OMIM:223900
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Renal insufficiency, Renal Fan... OMIM:276700
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss, Elevated circulati... ORPHA:2902
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis ORPHA:3409
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... ORPHA:93333
Myasthenic Syndrome, Congenital, 20, Presynaptic
Scoliosis, Kyphosis OMIM:617143
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Pericardial effusion, Paresthesia, Gout, Renal tubu... ORPHA:358
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short stature, Cachexia ORPHA:1969
Frank-Ter Haar Syndrome
Osteopenia, Wide anterior fontanel, Flared metaphysis, Cortical irregularity, Bowing of the long ... OMIM:249420
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss, Growth delay OMIM:266600
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c... ORPHA:449400
Congenital Tufting Enteropathy
Failure to thrive, Optic disc coloboma, Weight loss, Arthritis, Steatorrhea ORPHA:92050
New-Onset Refractory Status Epilepticus
Global brain atrophy, Infectious encephalitis ORPHA:363558
Atelosteogenesis, Type I
Rhizomelia, Radial bowing, Short finger, Fibular aplasia, Encephalocele, Tibial bowing, Short hum... OMIM:108720
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Broad-based gait, Long hallux, Talipes equinovarus, Long fingers, Thin bony cortex, Osteoporosis,... OMIM:309583
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Diffuse Alveolar Hemorrhage
Anemia, Weight loss, Leukocytosis, Thrombocytopenia ORPHA:90060
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Spontaneous pain sensation, Paraproteinemia, Paresthesia... ORPHA:91139
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Gait disturbance, Sensory axonal neuropathy OMIM:620469
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Cervical subluxation, Scoliosis... OMIM:253010
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Inability to walk, Hyperkinetic movements, Lower limb spasticity, Vocal cord ... OMIM:617799
Intellectual Developmental Disorder, Autosomal Dominant 53
Involuntary movements, Genu valgum, Joint hypermobility, Unsteady gait, Short femur OMIM:617798
Atelosteogenesis Type I
Rhizomelia, Absent or minimally ossified vertebral bodies, Talipes equinovarus, Limb undergrowth,... ORPHA:1190
Fabry Disease
Fasciculations, Paresthesia, Decreased alpha-galactosidase A activity, Delayed puberty, Abnormal ... OMIM:301500
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial ... OMIM:277170
Schaaf-Yang Syndrome
Scoliosis, Kyphosis OMIM:615547
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutro... ORPHA:158048
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Pancytopenia, Hyperglycinemia, Hy... OMIM:251100
Solitary Fibrous Tumor
Hypoinsulinemia, Hypophosphatemic rickets, Reduced C-peptide level, Weight loss ORPHA:2126
Thanatophoric Dysplasia Type 2
Platyspondyly, Kyphosis ORPHA:93274
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Hyperlordosis, Scoliosis, Back pain, Spinal rigidity ORPHA:98853
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Kyphosis ORPHA:261190
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis ORPHA:3121
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Increased susceptibility to fr... ORPHA:2769
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11
Viral encephalitis OMIM:619441
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Cerebellar atrophy, CNS hypomyelination, Short humerus, Cerebral hypomyelination, Del... OMIM:618367
Orofaciodigital Syndrome Type 1
Ataxia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand p... ORPHA:2750
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Infectious encephalitis, He... ORPHA:781
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Lynch Syndrome
Pituitary adenoma, Paresthesia, Neoplasm of the thyroid gland, Hemiplegia/hemiparesis, Abnormal p... ORPHA:144
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Cutis Laxa, Autosomal Recessive, Type Iid
Gliosis, Failure to thrive, Hypoplasia of the corpus callosum OMIM:617403
Primary Sclerosing Cholangitis
Hypoalbuminemia, Osteopenia, Type I diabetes mellitus, Elevated circulating hepatic transaminase ... ORPHA:171
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Postural hypotension with compensatory tachycardia, Elevate... ORPHA:85443
Gm1-Gangliosidosis, Type I
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Kyphosis OMIM:230500
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Kyphosis ORPHA:3082
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology ORPHA:494
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis OMIM:615381
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Intrarenal abscess, Hemiparesis, Pustule, Sinusitis, Infectious encephalitis, Abnormal... ORPHA:68
Familial Gestational Hyperthyroidism
Weight loss, Hand tremor ORPHA:99819
Metachromatic Leukodystrophy
Tip-toe gait, Incoordination, Tremor, Dystonia, Gait disturbance, Ataxia, Decerebrate rigidity, P... ORPHA:512
Ullrich Congenital Muscular Dystrophy 1A
Scoliosis, Kyphosis, Spinal rigidity OMIM:254090
Yellow Fever
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... ORPHA:99829
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Desbuquois Dysplasia 1
Platyspondyly, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Polycythemia Vera
Acute leukemia, Polycythemia, Paresthesia, Leukocytosis, Splenomegaly, Portal hypertension, Weigh... ORPHA:729
Chikungunya
Neuritis, Facial edema, Peripheral nerve compression, Paresthesia, Skin rash, Joint swelling, Inf... ORPHA:324625
Wiedemann-Rautenstrauch Syndrome
Chiari malformation, Clinodactyly, Talipes equinovarus, Large hands, Genu varum, Hypoplastic ilia... OMIM:264090
Vipoma
Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating ... ORPHA:97282
Pneumocystosis
Abnormal neutrophil count, Weight loss, Increased circulating lactate dehydrogenase concentration... ORPHA:723
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Osteopenia, Elevated circulating hepatic transaminase concentration, Rickets, Fa... OMIM:613658
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Hyperbilirubinemia, Hip contracture, Bowing... OMIM:210710
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, P... ORPHA:95409
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corpus callosum, Micro... ORPHA:314679
Subacute Sclerosing Panencephalitis
Infectious encephalitis OMIM:260470
Neuroendocrine Tumor Of The Rectum
Elevated circulating hepatic transaminase concentration, Carcinoid tumor, Weight loss, Atypical p... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated circulating hepatic transaminase concentration, Carcinoid tumor, Weight loss, Atypical p... ORPHA:100082
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Wieacker-Wolff Syndrome, Female-Restricted
Short neck, Scoliosis, Kyphosis OMIM:301041
Cystinosis, Nephropathic
Male hypogonadism, Decreased circulating carnitine concentration, Rickets, Failure to thrive, Hyp... OMIM:219800
3M Syndrome
Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2616
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
Pain insensitivity, Postural hypotension with compensatory tachycardia, Autoamputation of digits,... OMIM:256800
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain OMIM:106300
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... ORPHA:100075
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Fasciculations, Difficulty walking, Sple... OMIM:610717
Lysinuric Protein Intolerance
Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Thrombocytopenia, Truncal obesity,... OMIM:222700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... OMIM:603546
Epidermal Nevus Syndrome
Babinski sign, Osteopenia, Hypertonia, Progressive spastic paraparesis ORPHA:35125
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Cerebellar atrophy, Short tibia, Abnormal circulating ... OMIM:620306
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss, Clubbing ORPHA:79127
Reynolds Syndrome
Xerostomia, Ascites, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis ORPHA:779
Crigler-Najjar Syndrome
Infectious encephalitis ORPHA:205
Kaposi Sarcoma
Abnormality of the spleen, Weight loss ORPHA:33276
Immunodeficiency 31C
Osteopenia, Lymphopenia, Osteomyelitis, Autoimmune hemolytic anemia, Splenomegaly, Weight loss, H... OMIM:614162
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Decreased HDL cholesterol concentration, Hypogonadism, Elevated circula... ORPHA:85450
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Liposarcoma
Weight loss ORPHA:69078
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis OMIM:603387
Foxg1 Syndrome Due To 14Q12 Microdeletion
Scoliosis, Kyphosis ORPHA:261144
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Eales Disease
Optic disc pallor, Spastic paraparesis ORPHA:40923
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Microcephaly, Partial agenesis of the corpus callosum, Focal polymicr... OMIM:619103
Cap Polyposis
Weight loss ORPHA:160148
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Holoprosencephaly, Anterior encephalocele, Short femur OMIM:601357
Caroli Disease
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Leukocytosis, Splenomegaly, E... ORPHA:53035
Incontinentia Pigmenti
Cerebral cortical atrophy, Spasticity, Keratitis, Skin rash, Hemiplegia/hemiparesis, Infectious e... ORPHA:464
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Neuroendocrine neoplasm, Increased circulating cortisol lev... ORPHA:913
Cono-Spondylar Dysplasia
Short neck, Scoliosis, Kyphosis ORPHA:420794
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Flared metaphysis, Micromelia, Dumbbell-shaped humer... OMIM:211350
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Scoliosis, Thoracolumbar scoliosis, Hyperlordosis OMIM:618443
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Scoliosis, Kyphosis ORPHA:2789
8P23.1 Microdeletion Syndrome
Broad thumb, Obesity, Weight loss, Proximal placement of thumb, Broad hallux phalanx, Tapered finger ORPHA:251071
15Q24 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:94065
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Elevated ... ORPHA:67
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis OMIM:608776
Dysostosis, Stanescu Type
Kyphosis, Short neck, Scoliosis, Hyperlordosis ORPHA:1798
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Harrod Syndrome
Scoliosis, Kyphosis ORPHA:2115
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Norrie Disease
Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Microcephaly, Cachexia, Delayed pube... ORPHA:649
Marfan Syndrome
Slender build, Cachexia, Dural ectasia ORPHA:558
Mucopolysaccharidosis Type 6
Short neck, Kyphosis, Ovoid vertebral bodies ORPHA:583
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei... ORPHA:1332
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Broad femoral neck, Sclerosis of skull base, Optic nerve compression, Diaphyseal d... OMIM:619727
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Kyphosis OMIM:617190
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Pyoderma, Infectious encep... OMIM:307200
Pelger-Huet Anomaly
Kyphosis OMIM:169400
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Mhc Class Ii Deficiency 1
Chronic mucocutaneous candidiasis, Recurrent urinary tract infections, Infectious encephalitis, C... OMIM:209920
Cysticercosis
Somatic sensory dysfunction, Spinal arachnoid cyst, Infectious encephalitis, Spinal cord lesion, ... ORPHA:1560
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra... ORPHA:747
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Trisomy 13
Scoliosis, Kyphosis ORPHA:3378
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Weight loss, Hyperkalemia, Abnormal circulating dehydroepiandrosterone conc... ORPHA:90794
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Iron deficiency anemia, Weight loss, Steatorrhea, Osteoporosis ORPHA:309031
Fliedner-Zweier Syndrome
Scoliosis, Kyphosis OMIM:620511
19P13.12 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis ORPHA:254346
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Bradycardia ORPHA:226307
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97283
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... ORPHA:99889
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness ORPHA:43393
Amyotrophy, Monomelic
Fasciculations OMIM:602440
X-Linked Intellectual Disability Due To Gria3 Mutations
Scoliosis, Kyphosis ORPHA:364028
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Scoliosis, Kyphosis ORPHA:404440
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Weight loss, Clubbing, Failure to thrive ORPHA:79128
Castleman Disease
Jaundice, Weight loss, Elevated circulating C-reactive protein concentration, Thrombocytopenia, A... ORPHA:160
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis OMIM:616294
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Failure to thrive, Intrauterine growth retardation, Agenesis of corpus... OMIM:151050
3C Syndrome
Short neck, Scoliosis, Kyphosis, Hemivertebrae ORPHA:7
Kikuchi-Fujimoto Disease
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:50918
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Kyphosis OMIM:617061
Hutchinson-Gilford Progeria Syndrome
Shuffling gait, Limitation of joint mobility, Limited wrist movement, Progressive clavicular acro... ORPHA:740
Hurler Syndrome
Recurrent otitis media, Heparan sulfate excretion in urine, Neurodegeneration, Urinary glycosamin... OMIM:607014
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Systemic Capillary Leak Syndrome
Weight loss, Leukocytosis ORPHA:188
Klatskin Tumor
Jaundice, Weight loss ORPHA:99978
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Marden-Walker Syndrome
Short neck, Scoliosis, Kyphosis OMIM:248700
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Yao Syndrome
Weight loss, Arthritis OMIM:617321
Postencephalitic Parkinsonism
Camptocormia, Kyphosis ORPHA:97349
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia OMIM:614437
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dysplastic corpus callosum, Microcephaly, Spasticity, Hypoplasia of the corpus callosum OMIM:618569
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating total IgG, Hepatitis, O... 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, Slender build, Cachexia, Hemiplegia/hemiparesis ORPHA:828
Emanuel Syndrome
Scoliosis, Kyphosis, Sacral dimple OMIM:609029
Weill-Marchesani Syndrome 2
Broad phalanges of the hand, Short finger, Elbow flexion contracture, Joint stiffness, Brachydact... OMIM:608328
Ppoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97278
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Sinus bradycardia OMIM:619482
Genitopalatocardiac Syndrome
Scoliosis, Kyphosis ORPHA:2075
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97280
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
Grfoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97261
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, ... ORPHA:261318
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis ORPHA:71493
Fucosidosis
Anterior beaking of lumbar vertebrae, Kyphosis ORPHA:349
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Joint stiffness, Brachydactyly, Thin bony cortex, Broad metatarsal, ... OMIM:277600
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis, Failure to thrive ORPHA:39812
Postpoliomyelitis Syndrome
Fasciculations ORPHA:2942
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Bone cyst, Increased circulating an... OMIM:181000
Pituitary Adenoma 4, Acth-Secreting
Vertebral compression fracture, Kyphosis, Biconcave vertebral bodies OMIM:219090
Zttk Syndrome
Optic atrophy, Spasticity, Failure to thrive, Intrauterine growth retardation, Periventricular le... OMIM:617140
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Lumba... ORPHA:508533
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Lateral Meningocele Syndrome
Biconcave vertebral bodies, Short neck, Vertebral fusion, Scoliosis, Kyphosis OMIM:130720
Mucolipidosis Iii Alpha/Beta
Kyphosis, Scoliosis, Spondylolisthesis OMIM:252600
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microcephaly, Intrauterine growth retardation, Failure to thrive, Delayed peripheral myelination ORPHA:364577
Koolen-De Vries Syndrome
Vertebral fusion, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:96169
Carney-Stratakis Syndrome
Weight loss, Paraganglioma ORPHA:97286
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Large for gestational age, Hypoplastic pelvis, Polydactyly, Thin b... OMIM:612731
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Scoliosis, Kyphosis OMIM:619951
Nijmegen Breakage Syndrome
Recurrent pneumonia, Glioma, Recurrent urinary tract infections, Recurrent otitis media, Neurodeg... OMIM:251260
Nephroblastoma
Weight loss ORPHA:654
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... OMIM:618019
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis OMIM:219080
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Scoliosis, Kyphosis OMIM:619557
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hyperlordosis, Scoliosis, Kyphosis ORPHA:763
Pyomyositis
Weight loss, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Nodular Non-Suppurative Panniculitis
Weight loss, Splenomegaly ORPHA:33577
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Vertebral compre... OMIM:259770
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Granulomatosis With Polyangiitis
Weight loss, Granulomatosis OMIM:608710
Pemphigus Vulgaris
Weight loss, Recurrent cutaneous abscess formation ORPHA:704
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Kyphosis OMIM:616482
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hand clenching, Spastic paraparesis, Sandal gap, Broad hallux, Adre... OMIM:300166
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Functional abnormality of the bladder, Eczematoid dermatiti... ORPHA:391487
Megalocornea-Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:2479
Microphthalmia, Lenz Type
Kyphosis, Scoliosis, Hyperlordosis ORPHA:568
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration OMIM:203500
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... OMIM:301074
Parathyroid Carcinoma
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Abnormal parathyroid morph... ORPHA:143
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Slender build, Speech apraxia, Tremor, Dysplastic corpus callosum, Delayed puberty, Ataxia, Thick... OMIM:300967
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent urinary tract infections, Recurrent otitis media, ... OMIM:300755
Cowden Syndrome 5
Scoliosis, Kyphosis OMIM:615108
Glucose-Galactose Malabsorption
Weight loss, Failure to thrive ORPHA:35710
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis OMIM:170390
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Distal renal tubular acidosis, Periodic hypokalemic paresis OMIM:259730
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Kyphosis OMIM:616449
Campomelic Dysplasia
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae ORPHA:140
Micro Syndrome
Scoliosis, Kyphosis ORPHA:2510
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid arthritis, Elevated circulating creatinine concentration, Hashimoto... ORPHA:49041
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Scoliosis, Kyphosis OMIM:618493
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis, Fuse... ORPHA:1724
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Acrodermatitis Enteropathica
Short stature, Cerebral cortical atrophy, Weight loss, Failure to thrive ORPHA:37
Friedreich Ataxia 2
Abnormal medulla oblongata morphology, Incoordination, Abnormality of peripheral nerve conduction... OMIM:601992
Cowden Syndrome 6
Scoliosis, Kyphosis OMIM:615109
Coffin-Lowry Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:192
Koolen-De Vries Syndrome
Spondylolisthesis, Vertebral fusion, Scoliosis, Kyphosis, Sacral dimple 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
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess OMIM:233710
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Pseudobulbar paralysis, Slender build, Speech apraxia, Hypoplasia of the corpu... ORPHA:466791
Pancreatoblastoma
Jaundice, Weight loss ORPHA:677
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Kyphosis ORPHA:2215
Proteus Syndrome
Cachexia, Thymus hyperplasia, Splenomegaly ORPHA:744
Distal Triplication 15Q
Scoliosis, Kyphosis ORPHA:314588
Postinfectious Vasculitis
Elevated haptoglobin level, Increased circulating antibody level, Abnormal circulating protein co... ORPHA:48435
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Osteomyelitis, Pleural effusion, Infectio... ORPHA:31204
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Spasticity, Abnormal cerebral cortex morphology, Lateral ventricle dilatation, Pol... ORPHA:500150
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess OMIM:233690
Stevens-Johnson Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Thro... ORPHA:36426
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Scoliosis, Kyphosis, Hemivertebrae, Kyphoscoliosis OMIM:301040
Ileal Neuroendocrine Tumor
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... ORPHA:100078
Juvenile Dermatomyositis
Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weight loss, Ca... ORPHA:93672
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke... ORPHA:3337
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Kyphosis OMIM:617602
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261250
Toxic Epidermal Necrolysis
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Weight loss, Thro... ORPHA:537
Noonan Syndrome 14
Short neck, Kyphosis OMIM:619745
Granulomatosis With Polyangiitis
Hemiplegia, Weight loss, Granulomatosis, Elevated circulating C-reactive protein concentration, D... ORPHA:900
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Scoliosis, Kyphosis ORPHA:500055
Systemic Lupus Erythematosus
Chorea, Leukopenia, Weight loss, Thrombocytopenia, Arthritis, Hemolytic anemia ORPHA:536
Rett Syndrome, Congenital Variant
Scoliosis, Kyphosis OMIM:613454
Sarcoidosis
Hepatic failure, Decreased liver function, Diabetes insipidus, Leukopenia, Hypercalcemia, Portal ... ORPHA:797
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, ... ORPHA:1333
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
2P15P16.1 Microdeletion Syndrome
Scoliosis, Kyphosis ORPHA:261349
Malignant Atrophic Papulosis
Weight loss, Muscle flaccidity ORPHA:679
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Scoliosis, Hyperlordosis OMIM:162300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Scoliosis, Kyphosis ORPHA:476126
Femoral-Facial Syndrome
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Preaxial hand polydactyly, Campto... OMIM:134780
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Decreased liver function, Increased circulating IgE leve... ORPHA:449395
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Splenomegaly ORPHA:75565
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Scoliosis, Kyphosis, Hemivertebrae OMIM:618223
Cowden Syndrome 1
Scoliosis, Kyphosis OMIM:158350
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Histiocytosis ORPHA:168569
Granulomatous Disease, Chronic, X-Linked
Granuloma, Impaired oxidative burst, Splenomegaly, Granulomatosis, Rectal abscess, Liver abscess OMIM:306400
2Q31.1 Microdeletion Syndrome
Short neck, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:251014
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Short neck, Thoracolumbar scoliosis, Scoliosis, Kyphosis, ... OMIM:265000
Pulmonary Alveolar Microlithiasis
Increased circulating surfactant protein level, Stippled calcification in carpal bones, Weight lo... ORPHA:60025
8Q24.3 Microdeletion Syndrome
Short 5th finger, Congenital hip dislocation, Ectopic posterior pituitary, Optic nerve hypoplasia... ORPHA:508488
Cardiofacioneurodevelopmental Syndrome
Kyphosis OMIM:619123
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:182210
Intellectual Developmental Disorder, X-Linked 112
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:301111
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Kyphosis, Sacral dimple, Kyphoscoliosis ORPHA:536532
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Kyphoscoliosis, Thoracic scoliosis,... OMIM:602535
Cohen Syndrome
Scoliosis, Kyphosis ORPHA:193
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired pain sensation, Hyperlipidemia, Ganglioneuroma, Infectious encephalitis, Enuresis ORPHA:293987
Spondyloenchondrodysplasia
Platyspondyly, Kyphosis ORPHA:1855
Witteveen-Kolk Syndrome
Poor motor coordination, Intrauterine growth retardation, Obesity, Hypoplasia of the corpus callo... OMIM:613406
Cdags Syndrome
Kyphosis OMIM:603116
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis OMIM:239000
Rat-Bite Fever
Septic arthritis, Oligoarthritis, Weight loss, Arthritis, Anemia ORPHA:31205
Robinow Syndrome, Autosomal Dominant 3
Short neck, Scoliosis, Kyphosis, Sacral dimple OMIM:616894
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Short... OMIM:616145
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macr... ORPHA:227990
Weaver Syndrome
Scoliosis, Kyphosis OMIM:277590
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Posterior scalloping of vertebral bodies, Scoliosis, Kypho... 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
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Intellectual Developmental Disorder, Autosomal Dominant 57
Scoliosis, Kyphosis OMIM:618050
White-Kernohan Syndrome
Dysplastic corpus callosum, Obesity OMIM:619426
Renal Nutcracker Syndrome
Anemia, Weight loss, Orthostatic hypotension, Abnormal autonomic nervous system physiology ORPHA:71273
Mgat2-Cdg
Scoliosis, Kyphosis ORPHA:79329
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K... OMIM:143095
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Monosomy 9Q22.3
Short neck, Abnormality of the vertebral column, Kyphosis ORPHA:77301
Dermatomyositis
Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Increase... 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
Increased circulating IgG4 level, Optic nerve compression, Increased circulating IgA level, Weigh... ORPHA:79078
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Kyphosis OMIM:617527
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macr... ORPHA:227982
Plaa-Associated Neurodevelopmental Disorder
Kyphosis ORPHA:521426
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Involuntary movements, Spasticity, Fasciculations, Myoclonus, Hypertonia, Olivopon... ORPHA:284339
Atelis Syndrome 2
Kyphosis, Sacral dimple OMIM:620185
Reactive Arthritis
Osteomyelitis, Joint stiffness, Weight loss, Arthritis, Enthesitis ORPHA:29207
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive ORPHA:1018
Lysinuric Protein Intolerance
Hemophagocytosis, Failure to thrive, Leukopenia, Hepatosplenomegaly, Thrombocytopenia, Anemia ORPHA:470
Ramon Syndrome
Scoliosis, Kyphosis OMIM:266270
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Joint hypermobility, Talipes equinovarus, Elliptocytosis, Anemia,... OMIM:300990
Hermansky-Pudlak Syndrome
Weight loss, Neutropenia ORPHA:79430
Intellectual Developmental Disorder, Autosomal Dominant 73
Lumbar hyperlordosis, Thoracolumbar scoliosis, Hyperlordosis, Scoliosis, Kyphosis OMIM:620450
Prader-Willi Syndrome
Scoliosis, Kyphosis OMIM:176270
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Splenomegaly OMIM:602782
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra... ORPHA:280
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hyperkinetic movements, My... ORPHA:73224
Aspartylglucosaminuria
Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, Abnormal morphology of ulna, Ar... ORPHA:93
Autosomal Recessive Robinow Syndrome
Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral dimple 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
Abnormality of the cervical spine, Scoliosis, Kyphosis ORPHA:464311
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Chorea, Leukopenia, Decreased proportion of CD4-positive helper T... ORPHA:289390
Hajdu-Cheney Syndrome
Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Short neck, Scoliosis, Kyphosis ORPHA:955
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
Abnormality of the cervical spine, Scoliosis, Kyphosis ORPHA:464306
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocrit, Increased c... ORPHA:91500
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Poland Syndrome
Vertebral segmentation defect, Short neck, Hemivertebrae, Spina bifida occulta, Scoliosis, Kyphosis ORPHA:2911
Marden-Walker Syndrome
Kyphosis, Scoliosis, 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, Spondylolisthesis, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cervical spinal canal stenosis, Spondylolisthesis, Hyperlordosis, Scoliosis, Kyphosis, Sacral dimple ORPHA:363958
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphosis, Kyphoscoliosis ORPHA:457359
X-Linked Intellectual Disability, Snyder Type
Kyphosis, Kyphoscoliosis ORPHA:3063
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spondylolisthesis, Beaking of vertebral bodies, Scoliosis, Kyphosis OMIM:208400
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Alstrom Syndrome
Scoliosis, Kyphosis OMIM:203800
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Short neck, Scoliosis, Kyphosis ORPHA:818
Chronic Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Pancytopenia, Weight loss, Arthritis, Fl... ORPHA:99921
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... OMIM:142900
Mend Syndrome
Kyphosis, Sacral dimple ORPHA:401973
Mend Syndrome
Kyphosis, Sacral dimple 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
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... OMIM:300106
Cowden Syndrome
Scoliosis, Kyphosis ORPHA:201
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Vertebral fusion, Scoliosis, Kyphosis, Sacral dimple OMIM:194190
Limb Body Wall Complex
Spina bifida occulta, Anencephaly, Abnormal spinal cord morphology, Spina bifida ORPHA:2369
Coffin-Lowry Syndrome
Lumbar kyphosis, Scoliosis, Kyphosis OMIM:303600
1P36 Deletion Syndrome
Scoliosis, Spinal canal stenosis, Kyphosis ORPHA:1606
Tetrasomy 9P
Polymicrogyria, Intrauterine growth retardation, Abnormal spinal cord morphology, Pachygyria, Lis... ORPHA:3310
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Scoliosis, Kyphosis OMIM:309000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Platyspondyly, Kyphosis ORPHA:2273
Williams Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Hyperlordosis, Spina bifida... ORPHA:904
Somatomammotropinoma
Spinal canal stenosis, Kyphosis ORPHA:314769
Acromegaly
Spinal canal stenosis, Kyphosis ORPHA:963
Coffin-Siris Syndrome 1
Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple 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
Abnormality of the vertebral column, Scoliosis, Kyphosis, Beaking of vertebral bodies T12-L3 ORPHA:97685
Wrinkly Skin Syndrome
Scoliosis, Kyphosis OMIM:278250
Goodpasture Syndrome
Anemia, Weight loss, Increased blood urea nitrogen OMIM:233450
Primrose Syndrome
Neurodegeneration, Elevated circulating alpha-fetoprotein concentration, Ataxia OMIM:259050
Viss Syndrome
Scoliosis, Butterfly vertebrae, Kyphosis OMIM:619472
Branchiooculofacial Syndrome
Short neck, Kyphosis, Hyperlordosis OMIM:113620
Sotos Syndrome
Abnormal vertebral morphology, Scoliosis, 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

IMPC related publications

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

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

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

Order Mouse and ES Cells

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

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter