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Gene: Scn8a MGI:103169

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Gene Summary

Name:
sodium channel, voltage-gated, type VIII, alpha
Synonyms:
ataxia 3,  seal,  NaCh6,  Nav1.6,  nmf335,  nur14,  C630029C19Rik,  motor end-plate disease,  med,  nmf2,  nmf58,  NMF335,  mnd-2,  mnd2

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Scn8aem1(IMPC)Bay HOM   Early adult 0.00
increased spleen weight Scn8aem1(IMPC)Bay HET Early adult 1.87×10-05

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lacZ Expression

Expression data not available

Associated Images

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

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MicroCT E18.5

Embryo reconstruction

8 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Scn8a 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 associated to Scn8a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Severe temper tantrums, Optic nerve hypoplasia, Dysmetria, Gait ataxi... OMIM:614306

The table below shows human diseases predicted to be associated to Scn8a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myoclonic Epilepsy, Hartung Type
Generalized myoclonic seizure OMIM:159600
Intellectual Developmental Disorder, X-Linked 89
Generalized myoclonic seizure OMIM:300848
Epilepsy, Childhood Absence, Susceptibility To, 5
Generalized non-motor (absence) seizure OMIM:612269
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Epilepsy, Familial Temporal Lobe, 7
Focal sensory seizure with auditory features OMIM:616436
Atonic-Astatic Syndrome Of Foerster
Ataxia, Inability to walk, Hypotonia, Abasia, Generalized hypotonia OMIM:209100
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Autosomal Dominant Focal Dystonia, Dyt25 Type
Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,... ORPHA:329466
Dystonia, Early-Onset, And/Or Spastic Paraplegia
Laryngeal dystonia, Spastic paraplegia, Difficulty walking, Dystonia OMIM:619681
X-Linked Spastic Paraplegia Type 34
Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Ankle clon... ORPHA:171607
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ataxia, Sensory, 1, Autosomal Dominant
Babinski sign, Positive Romberg sign, Gait instability, worse in the dark, Sensory ataxia OMIM:608984
Spastic Paraplegia 24, Autosomal Recessive
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait OMIM:607584
Dystonia 25
Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia OMIM:615073
Intellectual Developmental Disorder, X-Linked 41
Generalized non-motor (absence) seizure OMIM:300849
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Early-Onset Generalized Limb-Onset Dystonia
Hypertonia, Gait disturbance ORPHA:256
Episodic Kinesigenic Dyskinesia 3
Choreoathetosis, Torticollis, Involuntary movements, Dystonia OMIM:620245
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Spastic Paraplegia 34, X-Linked
Impaired vibratory sensation, Clonus, Babinski sign, Spastic paraplegia, Paraplegia, Spastic gait OMIM:300750
Spastic Paraplegia 61, Autosomal Recessive
Inability to walk, Spasticity, Spastic paraplegia, Scissor gait OMIM:615685
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Epilepsy, Juvenile Myoclonic, Susceptibility To, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:614280
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Neuhauser-Eichner-Opitz Syndrome
Ataxia, Rigidity, Hypotonia, Hypertonia, Spasticity ORPHA:2672
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Ataxia-Oculomotor Apraxia Type 1
Ataxia, Gait disturbance ORPHA:1168
Primary Dystonia, Dyt17 Type
Torticollis, Generalized dystonia, Parkinsonism, Craniofacial dystonia ORPHA:370103
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Dystonia 17, Torsion, Autosomal Recessive
Torticollis, Focal dystonia OMIM:612406
Dystonia 4, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Gait ataxia, Limb dystonia OMIM:128101
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Normokalemic Periodic Paralysis
Percussion myotonia, Periodic paralysis OMIM:170600
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Spinocerebellar Ataxia, X-Linked 2
Ataxia, Abnormality of extrapyramidal motor function OMIM:302600
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Dystonia 33
Axial dystonia, Limb dystonia, Axial hypotonia, Babinski sign, Dystonia, Spasticity OMIM:619687
Episodic Kinesigenic Dyskinesia 2
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia OMIM:611031
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Dystonia With Cerebellar Atrophy
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia OMIM:611694
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Epilepsy, Familial Temporal Lobe, 4
Focal impaired awareness seizure, Focal aware seizure, Focal sensory seizure with visual features OMIM:611631
Spastic Paraplegia 72, Autosomal Recessive
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... OMIM:615625
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Febrile Seizures, Familial, 9
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... OMIM:611634
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... OMIM:162500
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception OMIM:176250
Spinocerebellar Ataxia, X-Linked 5
Neonatal hypotonia, Ataxia, Action tremor OMIM:300703
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... ORPHA:684
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Generalized Epilepsy With Febrile Seizures Plus, Type 10
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (ab... OMIM:618482
Cerebellar Ataxia, Cayman Type
Broad-based gait, Hypotonia, Gait ataxia, Truncal ataxia, Intention tremor OMIM:601238
Autosomal Recessive Spastic Paraplegia Type 56
Unsteady gait, Babinski sign, Spastic paraplegia, Tip-toe gait, Dystonia, Spastic gait ORPHA:320411
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607734
Episodic Ataxia Type 5
Ataxia, Truncal ataxia ORPHA:211067
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
X-Linked Spinocerebellar Ataxia Type 4
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking ORPHA:85292
Autosomal Recessive Spastic Paraplegia Type 24
Clonus, Spastic paraplegia, Scissor gait, Tip-toe gait, Spasticity ORPHA:101004
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Seizure, Bilateral tonic-clonic seizure with generalized onset, Generalized non-motor (absence) s... OMIM:609446
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum
Unsteady gait, Babinski sign, Spastic paraplegia, Tip-toe gait, Dystonia OMIM:615030
Spinocerebellar Ataxia Type 4
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... ORPHA:98765
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:619491
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Hypotonia OMIM:213000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Onion bulb formation, Distal muscle weakness, Ataxia, ... OMIM:601098
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal muscle weakness, Babinski sign, Abnormal pyrami... OMIM:600361
Dystonia 30
Torticollis, Writer's cramp, Leg dystonia, Arm dystonia, Dystonia, Oromandibular dystonia, Loss o... OMIM:619291
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Distal lower limb amyotrophy, Chaddock reflex, Thenar muscle atrophy, Decreased compound muscle a... OMIM:619112
Cerebellar Ataxia, Cayman Type
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Generalized hypo... ORPHA:94122
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Proximal ... OMIM:607706
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Dystonia 15, Myoclonic
Dystonia, Writer's cramp, Myoclonus OMIM:607488
Cerebellar Ataxia, Benign, With Thermoanalgesia
Progressive cerebellar ataxia, Impaired temperature sensation OMIM:212890
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor OMIM:190200
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Episodic Ataxia, Type 8
Episodic ataxia, Slurred speech, Ataxia, Intention tremor OMIM:616055
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelinat... ORPHA:431329
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... OMIM:605253
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia ORPHA:401840
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:180800
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... ORPHA:210571
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609260
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Epilepsy, Progressive Myoclonic, 11
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Seizure, Myoclonus, Giant som... OMIM:618876
Paroxysmal Nonkinesigenic Dyskinesia 1
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis OMIM:118800
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... ORPHA:276435
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal lower limb muscle weakness, Distal muscle weakness, Fatty replacement of skeletal muscle, ... OMIM:618279
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Quadriceps muscle weakness, Impaired vibration sensation in the lower limbs, Steppage gait, Foot ... ORPHA:435387
Developmental Delay With Dysmorphic Facies And Dental Anomalies
Spasticity, Ataxia, Hypotonia OMIM:619228
Epilepsy, Idiopathic Generalized, Susceptibility To, 16
Myoclonic absence seizure, Atypical absence seizure, Myoclonic seizure OMIM:618596
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Chronic Inflammatory Demyelinating Polyneuropathy
Segmental peripheral demyelination/remyelination, Fatiguable weakness of proximal limb muscles, D... ORPHA:2932
Striatonigral Degeneration, Childhood-Onset
Unsteady gait, Hypotonia, Ankle clonus, Hypertonia, Steppage gait, Dystonia, Loss of ambulation, ... OMIM:617054
Paroxysmal Kinesigenic Dyskinesia
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia ORPHA:98809
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Distal mu... ORPHA:206594
Juvenile Myoclonic Epilepsy
Generalized-onset seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absence) s... ORPHA:307
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Distal muscle weakness, Ankle flexion contracture, Dec... OMIM:611228
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118210
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Appendicular hypotonia, Ataxia, Hypotonia OMIM:619333
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Myotonia OMIM:170500
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... OMIM:618912
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Babinski sign, Upper limb spasticity, Dystonia, Spastic gait OMIM:619966
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation OMIM:617917
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ... OMIM:620068
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, S... OMIM:614436
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Upp... OMIM:302801
Paroxysmal Exertion-Induced Dyskinesia
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... ORPHA:98811
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:145900
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... OMIM:616921
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Hand tremor... ORPHA:352675
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Spastic Ataxia With Congenital Miosis
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia ORPHA:1182
X-Linked Charcot-Marie-Tooth Disease Type 4
Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction veloc... ORPHA:101078
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus OMIM:159900
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... ORPHA:101097
Neuropathy, Congenital Hypomyelinating, 2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:618184
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Sei... OMIM:600143
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Developmental And Epileptic Encephalopathy 19
Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal impai... OMIM:615744
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Dystonia, Focal, Task-Specific
Writer's cramp OMIM:611284
Torsion Dystonia With Onset In Infancy
Torsion dystonia OMIM:602554
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Dystonia 35, Childhood-Onset
Dystonia OMIM:619921
Episodic Kinesigenic Dyskinesia 1
Paroxysmal dystonia, Paroxysmal choreoathetosis OMIM:128200
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal muscle weakness, Decreased nerve conduction velocity, Paraparesis, Upper limb muscle weakn... OMIM:302802
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, In... OMIM:302800
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2
Rigidity, Difficulty walking, Sensory ataxia, Dystonia OMIM:619661
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... OMIM:615957
Primary Dystonia, Dyt21 Type
Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst... ORPHA:306734
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... OMIM:607208
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Alternating Hemiplegia Of Childhood 1
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis OMIM:104290
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent... ORPHA:2589
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Hypotonia ORPHA:1397
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... ORPHA:603
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Claw hand deformity, Spinal mu... OMIM:605726
Myopathy, Myofibrillar, 2
Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric... OMIM:608810
Isolated Cerebellar Agenesis
Hypertonia, Ataxia, Hypotonia ORPHA:1398
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Distal muscle weakness, Decreased number of large peripheral myelin... OMIM:608673
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... OMIM:601068
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... ORPHA:101010
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigm... OMIM:162350
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Epilepsy, Progressive Myoclonic, 8
Cerebellar atrophy, Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem,... OMIM:616230
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118200
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls OMIM:619647
Congenital Myasthenic Syndromes With Glycosylation Defect
Poor head control, Distal muscle weakness, Abnormal peripheral nervous system synaptic transmissi... ORPHA:353327
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, St... OMIM:607678
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Ragged-red muscle fibers, Myopathy, Seizure, Myoclonus, Generalized myoclonic seizure, Sp... OMIM:545000
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Null Syndrome
Ataxia, Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Progressive spas... ORPHA:280234
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:617831
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... ORPHA:53583
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Proximal muscle weakness, Fasciculations, Difficulty w... OMIM:615575
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6
Steppage gait, Impaired distal vibration sensation, Hand tremor, Impaired pain sensation OMIM:300905
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D... ORPHA:99944
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Primary Dystonia, Dyt6 Type
Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary... ORPHA:98806
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Hypotonia, Gait ataxia,... OMIM:249900
Paroxysmal Nonkinesigenic Dyskinesia 2
Paroxysmal dystonia OMIM:611147
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... ORPHA:98856
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc... OMIM:615362
Dystonia 32
Torticollis, Laryngeal dystonia, Limb dystonia OMIM:619637
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Spinocerebellar Ataxia Type 11
Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia ORPHA:98767
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... OMIM:214400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Distal muscle weakness, Ataxia, Incoordination, Proxim... OMIM:616688
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum
Babinski sign, Cogwheel rigidity, Hypertonia, Dystonia, Spastic gait OMIM:618284
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... OMIM:613608
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Upp... OMIM:608323
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Postural tremor, Abnormal motor nerve conduction velocity, Hand muscle weakn... ORPHA:100998
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:605588
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Autosomal Recessive Spastic Paraplegia Type 43
Distal muscle weakness, Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor ... ORPHA:320370
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Gait disturbance, Dystonia OMIM:108600
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:118220
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Spastic tetraplegia, Dystonia OMIM:618646
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor functi... OMIM:615159
Dystonia 9
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia OMIM:601042
Developmental And Epileptic Encephalopathy 57
Epileptic spasm, Tonic seizure, Seizure, Atypical absence seizure, Generalized myoclonic seizure OMIM:617771
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Spinocerebellar Ataxia Type 5
Incoordination, Slurred speech, Gait disturbance ORPHA:98766
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... ORPHA:453521
Spastic Paraplegia 63, Autosomal Recessive
Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia, Gait disturbance, Impaired v... OMIM:615686
Spinocerebellar Ataxia Type 23
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... ORPHA:101108
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Polymicrogyria, Bilateral Perisylvian, X-Linked
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:300388
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Spinocerebellar Ataxia Type 40
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... ORPHA:423275
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Peripheral axonal neurop... ORPHA:101077
Benign Familial Infantile Epilepsy
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... ORPHA:306
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... OMIM:616346
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Broad-based gait, Axial hypotonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Gen... OMIM:617384
Cerebellar Ataxia And Neurosensory Deafness
Ataxia OMIM:212850
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... OMIM:615528
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy... OMIM:181350
Brody Disease
Percussion myotonia, Somatic sensory dysfunction, Myotonia, Fasciculations OMIM:601003
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia, Muscular dystrophy OMIM:613869
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome
Ataxia ORPHA:1180
Alternating Hemiplegia Of Childhood 2
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia OMIM:614820
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... OMIM:160800
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Distal muscle weakness, Postura... OMIM:270685
Chorea, Benign Hereditary
Chorea, Frequent falls, Gait disturbance OMIM:118700
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, First do... ORPHA:139536
Hypokalemic Periodic Paralysis, Type 1
Myotonia, Periodic paralysis OMIM:170400
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Ataxia, Spastic tetraparesis OMIM:619061
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... OMIM:500003
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity OMIM:608236
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... ORPHA:99953
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Distal muscle weakness, Decreased distal sensory nerve... OMIM:607684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Distal muscle weakness, Difficulty walking, Distal sen... OMIM:620111
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebral palsy, Broad-based gait OMIM:605388
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Progressive proximal muscle weakness,... ORPHA:2596
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Progressive external ophth... ORPHA:98897
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy, Abnormal nerve conductio... ORPHA:99014
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... OMIM:619862
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Decre... ORPHA:90103
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Generalized... OMIM:614487
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Charcot-Marie-Tooth Disease Type 4A
Distal muscle weakness, Hand muscle weakness, Decreased number of large peripheral myelinated ner... ORPHA:99948
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Impaired vibration sensation in the lower limbs, Intrinsic hand muscle... ORPHA:399081
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tet... OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... OMIM:606595
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Babinski sign, Spa... OMIM:618404
Spinocerebellar Ataxia, Autosomal Recessive 17
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Clumsiness, Gait ataxia,... OMIM:616127
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Muscle weakness, Fasci... ORPHA:65684
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Proximal muscle ... OMIM:616040
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Axial hypotonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... OMIM:613135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Spinocerebellar Ataxia, Autosomal Recessive 22
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... OMIM:616948
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Hypotonia, Facial diplegia, Distal amyotrophy, Distal ... OMIM:616287
Dystonia 24
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia OMIM:615034
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Ventricular hypertrophy, Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular... OMIM:601287
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Distal muscle weakness, Proximal muscle weakness, Decreased nerve co... ORPHA:99939
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Diaphragmatic paralysis, Hypotonia ORPHA:868
Merrf
Ataxia, Ragged-red muscle fibers, Optic atrophy, Myopathy, Generalized myoclonic seizure ORPHA:551
Autosomal Spastic Paraplegia Type 72
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles ORPHA:401849
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, R... OMIM:619566
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... OMIM:601382
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:600882
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist... OMIM:616687
Roussy-Lévy Syndrome
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Somatic sensory dysfunct... ORPHA:3115
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... OMIM:607641
Dandy-Walker Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220200
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Ragged-red muscle fibers, Babinski sign, Limb muscle weakness, Proximal amy... OMIM:500002
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia OMIM:253590
Blepharonasofacial Malformation Syndrome
Torsion dystonia OMIM:110050
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paralysis OMIM:158590
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Distal muscle weakness, Sensory ataxia, Distal sensory... ORPHA:101081
Developmental And Epileptic Encephalopathy 69
Corpus callosum atrophy, Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkin... OMIM:618285
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... ORPHA:284332
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia ORPHA:324588
Developmental And Epileptic Encephalopathy 37
Cerebellar atrophy, Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure... OMIM:616981
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... ORPHA:98890
Spinocerebellar Ataxia Type 26
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... ORPHA:101112
Autosomal Recessive Spastic Paraplegia Type 21
Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturbance, Difficul... ORPHA:101001
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hearing impairment OMIM:312910
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal muscle weakness, Axonal degeneration/regeneration, Segmental peripheral demyelination/remy... OMIM:606483
Epilepsy, Familial Adult Myoclonic, 4
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... OMIM:615127
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Diffi... OMIM:614018
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... OMIM:608930
Spastic Paraplegia, Ataxia, And Mental Retardation
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vibration sensation in... OMIM:607565
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... ORPHA:497764
Epilepsy, Nocturnal Frontal Lobe, 4
Dystonia OMIM:610353
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T... ORPHA:2386
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... OMIM:602124
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity OMIM:617829
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Hearing impairment OMIM:614369
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Gait disturbance, Dystonia ORPHA:98934
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... OMIM:613319
Dpm3-Cdg
Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle... ORPHA:263494
Spinocerebellar Ataxia 41
Unsteady gait, Ataxia, Gait ataxia OMIM:616410
Nonaka Myopathy
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... OMIM:605820
Pontocerebellar Hypoplasia, Type 1E
Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Elbow flexion contracture, Knee flexio... OMIM:619303
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... OMIM:603034
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Dyston... ORPHA:314603
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Infantile axial hypotonia, Tremor, Babinski sign, Scissor gait, Ankle clonus, Brady... ORPHA:521406
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:613287
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Generalized-onset seizure, Progressive distal muscular atrophy, Spinal m... OMIM:159950
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Ventricular septal hypertrophy, Proximal amyotrophy OMIM:612998
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Unsteady gait, Hypotonia, Abnormality of extrapyramidal motor function, Ne... OMIM:302500
Spinocerebellar Ataxia, Autosomal Recessive 6
Ataxia, Hypotonia, Dysmetria, Clumsiness, Gait ataxia, Generalized hypotonia, Spasticity, Intenti... OMIM:608029
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased testicular s... OMIM:604168
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Spinocerebellar Ataxia Type 30
Limb ataxia, Gait ataxia ORPHA:211017
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Dystonia, A... OMIM:607136
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Tremor, Ankle weakness, Distal... OMIM:118300
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... OMIM:165300
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr... OMIM:604484
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Tremor, Decreased number of... OMIM:208920
Myoclonic-Atonic Epilepsy
Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure,... OMIM:616421
Intellectual Developmental Disorder, Autosomal Recessive 77
Unsteady gait, Head tremor OMIM:619988
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dystonia, Ataxia, Lower limb muscle weakness, Bilateral tonic-clonic seizure,... ORPHA:313772
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Ataxia OMIM:242520
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... OMIM:608627
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Respiratory insufficiency, ... OMIM:615352
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Autosomal Recessive Spastic Paraplegia Type 27
Babinski sign, Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles ORPHA:101007
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Choreoathetosis, Familial Inverted
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance OMIM:118750
Developmental And Epileptic Encephalopathy 7
Hypotonia, Spastic tetraparesis, Dystonia OMIM:613720
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... OMIM:167320
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Striatonigral Degeneration, Infantile
Choreoathetosis, Spasticity, Dystonia OMIM:271930
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic paraplegia, Distal amyo... OMIM:182815
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb... OMIM:615035
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Spastic Paraplegia 79B, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Myotonia, Ataxia, Postural tremor, Head titu... OMIM:615491
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:610100
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus, Increased int... OMIM:619065
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Spinocerebellar Ataxia 13
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ... OMIM:605259
Cataract-Ataxia-Deafness Syndrome
Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia ORPHA:1368
Progressive Myoclonic Epilepsy With Dystonia
Diffuse cerebral atrophy, Generalized myoclonic seizure, Abnormal pyramidal sign, Optic atrophy, ... ORPHA:352596
Spinocerebellar Ataxia 19
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... OMIM:607346
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... OMIM:606482
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... OMIM:608340
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, P... ORPHA:99950
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Cerebellar atrophy, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetri... OMIM:611302
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... OMIM:608105
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Limb ataxia, Gait ataxia OMIM:617133
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Limb ataxia, Gait ataxia ORPHA:284282
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... OMIM:608423
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Peripheral axonal neuropathy, Limb muscle weakness, Onion bulb formation... OMIM:620378
Nemaline Myopathy 6
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies OMIM:609273
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... OMIM:611588
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hemiplegia/hemiparesis, Hydrocephalus, Hypertonia ORPHA:2807
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di... OMIM:619519
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Reduced forced vital capacity, Diaphr... OMIM:612954
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy OMIM:310095
X-Linked Charcot-Marie-Tooth Disease Type 1
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity ORPHA:101075
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent l... OMIM:204500
Dyschromatosis Symmetrica Hereditaria
Torsion dystonia ORPHA:41
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Focal-ons... OMIM:204300
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia... OMIM:620270
Hypokalemic Periodic Paralysis
Myotonia, Periodic hypokalemic paresis, Respiratory paralysis, Paralysis ORPHA:681
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Abnormal cerebellum morphology, Babinski sign, Ragged-red muscle fibers, Generalized non-... OMIM:618242
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Epileptic spasm, Dystonia, Oculogyric crisis, Inability to walk, Chorea, Cere... OMIM:614254
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Unsteady gait, Myocloni... OMIM:616409
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome
Paroxysmal dystonia, EEG with parietal focal spike waves, Writer's cramp, Prolonged somatosensory... ORPHA:163727
Rapid-Onset Dystonia-Parkinsonism
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Generalized hypotonia, Limb... ORPHA:71517
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Upper limb muscle weakn... OMIM:607791
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, I... OMIM:619216
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber... OMIM:616924
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Axial hypotonia, Tremor, Hypotonia, Dysd... OMIM:618049
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Dilated cardiomyopathy, Macroglossia, Calf muscle hypertrophy, Muscular ... OMIM:616827
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic seizu... ORPHA:2590
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... ORPHA:79263
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Steppage gait, Axonal degeneration, Gait disturbance, Scoliosis OMIM:616155
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Falls, Myoclonus, Atypical absence seizure, ... ORPHA:2382
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Gait ataxia, Acute demyelinating polyneuropathy, Generalized hypotonia, Distal lower limb muscle ... ORPHA:98916
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia OMIM:605909
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Dyspnea, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, ... OMIM:603511
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... OMIM:300580
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red musc... ORPHA:254886
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Autosomal Dominant Striatal Neurodegeneration
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance ORPHA:228169
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dystonia, Loss of a... OMIM:617916
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Dysphagia, Gait a... ORPHA:225154
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation OMIM:123155
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia OMIM:615268
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures
Ataxia, Babinski sign, Hypotonia, Dysmetria, Choreoathetosis, Positive Romberg sign, Dystonia, Lo... OMIM:618088
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Generalized amyotrophy, Myoclonu... OMIM:616540
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Hemidystonia-Hemiatrophy Syndrome
Limb dystonia, Babinski sign, Abnormal pyramidal sign, Hemiparesis, Dystonia ORPHA:306741
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... ORPHA:178400
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, D... OMIM:615376
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Ataxia, Dysmetria, Truncal ataxia OMIM:617584
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait OMIM:619052
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Generalized hypotonia OMIM:264070
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Spastic paraplegia, Lower limb hypertonia, Gait disturbance... OMIM:614898
Arts Syndrome
Ataxia, Progressive muscle weakness, Optic atrophy, Tetraplegia, Spinal cord posterior columns my... OMIM:301835
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finge... OMIM:614399
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... OMIM:613855
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Ankle clonus ORPHA:488594
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Cerebellar atrophy, Epileptic spasm, Ataxia, Atrophy/Degeneration affecting the brainstem, Spasti... OMIM:619971
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myotonia, Myo... ORPHA:99734
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... OMIM:253600
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... ORPHA:275872
Congenital Myopathy 10B, Mild Variant
Axial hypotonia, Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replace... OMIM:620249
Juvenile Huntington Disease
Cerebellar atrophy, Hyperactivity, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Brady... ORPHA:248111
Muscular Dystrophy, Becker Type
Cardiomyopathy, Calf muscle pseudohypertrophy, Muscular dystrophy OMIM:300376
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral demyelination, ... DECIPHER:59
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Myotonia, Tremor, Shuffling gait, Fasciculations, Loss of ambulation ORPHA:209335
Spinocerebellar Ataxia Type 35
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... ORPHA:276193
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Upper limb muscle... OMIM:607677
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Poor head control, Axial hypotonia, Severe muscular hypotonia, Decreased... OMIM:614932
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Dystonia, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cere... OMIM:618497
Oxoglutarate Dehydrogenase Deficiency
Rigidity, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Falls, Dystonia OMIM:203740
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Generalized non-motor (absence) seizure ORPHA:370943
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie... ORPHA:598
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Mitochondrial Dna Depletion Syndrome 18
Clonus, Axonal degeneration, Falls, Tongue fasciculations, Scoliosis OMIM:618811
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal amyotrophy... OMIM:607731
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity OMIM:612577
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Respiratory insufficiency due to muscle weakness, Inability to walk, Hypotonia, Tongue fa... OMIM:618276
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Distal lower limb amyotrophy, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Ax... OMIM:615185
Restless Legs Syndrome, Susceptibility To, 1
Restless legs, Paresthesia, Myoclonus OMIM:102300
Spinocerebellar Ataxia 45
Limb ataxia, Gait ataxia OMIM:617769
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... ORPHA:306692
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:615490
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... OMIM:612016
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity ORPHA:640
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Ce... ORPHA:263516
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Generalized myoclonic seizure, Seizure, Ataxia, Myoclonus OMIM:208700
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, D... ORPHA:266
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Gowe... OMIM:620285
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Mitochondrial Complex I Deficiency, Nuclear Type 12
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Unsteady gait, Choreoathetosis, Seizu... OMIM:301020
Myopathy, Distal, 3
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Poor head control, Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Myopathy, Myofibrillar, 5
Waddling gait, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber s... OMIM:609524
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Krabbe Disease
Axial hypotonia, Decreased nerve conduction velocity, Optic atrophy, Hypotonia, EEG abnormality, ... OMIM:245200
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ... ORPHA:401820
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy OMIM:254100
Guanidinoacetate Methyltransferase Deficiency
Abnormal head movements, Hyperactivity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavi... ORPHA:382
Porphyria, Acute Hepatic
Respiratory paralysis, Paresthesia, Paralysis OMIM:612740
Desminopathy
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... ORPHA:98909
Myotonia Congenita, Autosomal Recessive
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs OMIM:255700
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Developmental And Epileptic Encephalopathy 56
Broad-based gait, Ataxia, Generalized non-motor (absence) seizure, Focal motor seizure, Myoclonic... OMIM:617665
Spinocerebellar Ataxia Type 17
Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor... ORPHA:98759
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebellar vermis morphology ORPHA:2703
Pontocerebellar Hypoplasia, Type 2C
Chorea, Dystonia OMIM:612390
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Upper limb muscle weakness, Loss of ambul... ORPHA:206443
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Generalized hypotonia OMIM:619099
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Amyotrop... OMIM:613954
Combined Saposin Deficiency
Generalized clonic seizure, Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasc... OMIM:611721
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Ataxia OMIM:136600
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... OMIM:605355
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction ORPHA:101005
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Hereditary Geniospasm
Abnormality of mentalis muscle, Chin myoclonus, Intention tremor ORPHA:53372
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Hypotonia,... OMIM:606703
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni... OMIM:618824
3-Methylglutaconic Aciduria Type 3
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis ORPHA:67047
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Decreased number of la... OMIM:617087
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Huntington Disease-Like 1
Cerebellar atrophy, Abnormal head movements, Restlessness, Incoordination, Involuntary movements,... ORPHA:157941
Infantile Convulsions And Choreoathetosis
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia ORPHA:31709
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,... OMIM:128100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Limb-girdle muscle weakness, Muscular dystrophy OMIM:616094
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... ORPHA:420492
Rippling Muscle Disease 1
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Sensorineural hearing impairment, Dysmetria, Gait ataxia, Limb ataxia... OMIM:616291
Epilepsy, Progressive Myoclonic, 12
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Attention deficit hyperactivity dis... OMIM:619191
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Abnormal pyramidal sign, Dystonia OMIM:619196
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Decreased nerve conduction velocity, Kyphosis, Axonal degeneration, Waddling gait OMIM:618138
Developmental And Epileptic Encephalopathy 16
Clonic seizure, Optic atrophy, Cerebral atrophy, Hemiparesis, Status epilepticus, Myoclonus, Abno... OMIM:615338
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus OMIM:254800
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Axial hypotonia, Ataxia, Chorea, Poor coordination, Falls, Dystonia, Paroxysmal dyskinesia OMIM:619150
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
Spinocerebellar Ataxia, Autosomal Recessive 29
Lower limb spasticity, Generalized dystonia, Ataxia, Axial hypotonia, Inability to walk, Hypotonia OMIM:619389
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Focal-onset seizure, Generalized-onset seizure, Focal sensory seizure, Infantile spasms OMIM:602066
Stxbp1-Related Encephalopathy
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Hypotonia, Spastic tetra... ORPHA:599373
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... OMIM:618317
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... OMIM:620158
Horner Syndrome, Congenital
Paralysis OMIM:143000
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Poor head control, Generalized muscle weakness, Hypotonia, Prolonged miniature endplate currents,... OMIM:616321
3-Methylglutaconic Aciduria Type 1
Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia ORPHA:67046
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... ORPHA:1878
Parasomnia, Sleep Bruxism Type
Myoclonus, Bruxism OMIM:606840
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Neuromuscular dysphagia, Upper limb muscle w... ORPHA:171442
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Distal sensory impairment, Vestibular schwa... OMIM:613641
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Muscular dystrophy OMIM:309930
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Spastic paraplegia, Ab... OMIM:238970
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Distal a... OMIM:311070
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Generalized hypotonia, Dystonia OMIM:617836
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Chorea, Axial hypotonia, Dystonia OMIM:618760
Developmental And Epileptic Encephalopathy 97
Poor head control, Tremor, Inability to walk, Hypotonia, Hypsarrhythmia OMIM:619561
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia ORPHA:2579
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (abs... OMIM:619157
Acetazolamide-Responsive Myotonia
Myotonia, Hypertonia, Gait disturbance ORPHA:99736
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia OMIM:619724
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Parkinsonism, Increased neuronal autofluorescent lipopigment, Inc... OMIM:204200
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy, Limb tremor, Dysme... OMIM:614877
Jeavons Syndrome
Bilateral tonic-clonic seizure with generalized onset, Focal seizure with eyelid myoclonia, Visua... ORPHA:139431
Spinocerebellar Ataxia, Autosomal Recessive 14
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor OMIM:615386
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Pelizaeus-Merzbacher Disease, Classic Form
Poor head control, Axial hypotonia, Ataxia, Spastic tetraparesis, EEG with abnormally slow freque... ORPHA:280219
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Opht... OMIM:605809
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... ORPHA:86909
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Immunoneurologic Disorder, X-Linked
Neonatal hypotonia, Progressive proximal muscle weakness, Spastic paraplegia, Neonatal death OMIM:300076
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Respiratory insufficiency due to ... OMIM:613205
Episodic Ataxia, Type 2
Episodic ataxia, Progressive cerebellar ataxia, Myotonia, Paresthesia OMIM:108500
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Aggressive behavior, Focal tonic seizure, Limb tremor, Seizure, Self-injurious behavior, Hyperton... OMIM:300699
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Lower limb spasticity, Dystonia, Ataxia, Hypotonia, Gait ataxia, Gait disturbance, Difficulty wal... OMIM:614458
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Myoclonus, Intractable, Neonatal
Optic disc pallor, Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Increased variability... OMIM:617235
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, D... OMIM:617862
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Ophthalmoplegia, Distal sensory impairment, Upper limb muscl... OMIM:615284
Landau-Kleffner Syndrome
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... ORPHA:98818
Spinocerebellar Ataxia 14
Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impaired vibration sensati... OMIM:605361
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Poor head control, Axial hypotonia, Ataxia, Facial pal... OMIM:608804
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Leber Hereditary Optic Neuropathy
Postural tremor, Myopathy, Optic atrophy, Ataxia ORPHA:104
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Hypotonia, Proximal muscle weakness OMIM:614750
Spinocerebellar Ataxia 31
Ataxia, Limb ataxia, Gait ataxia OMIM:117210
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Axial hypotonia, Ataxia, Proximal muscle weakness, Progr... OMIM:620166
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal musc... OMIM:608358
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Generalize... OMIM:164400
Inclusion Body Myositis
Inflammatory myopathy, Dysphagia, Rimmed vacuoles OMIM:147421
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle atrophy, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Skele... ORPHA:101082
Spinocerebellar Ataxia Type 1
Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Ophthalmoparesis, Br... ORPHA:98755
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Axial hypotonia, Lower limb muscle weakness, Truncal t... OMIM:610532
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Ankle weakness, Weakness of the intr... ORPHA:98913
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Resting tremor, Skeletal muscle atrophy, Incoordination, Ataxia, ... OMIM:615157
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hypotonia ORPHA:22
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... OMIM:610185
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Fatiguable weakness of proximal limb muscles, Abnormality of the seventh cranial nerve, U... ORPHA:90117
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... OMIM:619317
Pontocerebellar Hypoplasia, Type 4
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Seizure, Congenital cont... OMIM:225753
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Lower-l... OMIM:613710
Neurodegeneration With Brain Iron Accumulation 6
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Spastic pa... OMIM:615643
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann... ORPHA:206448
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... OMIM:619911
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Spasticity, Axial hypotonia, Dystonia OMIM:614249
Congenital Myopathy 3 With Rigid Spine
Reduced vital capacity, Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleat... OMIM:602771
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Zebra Body Myopathy
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle... ORPHA:97240
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:607831
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Impaired proprioception, Hand tremor, Gait ataxia, Steppage ... ORPHA:101085
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyotrophy, Myoclonus, Fasc... OMIM:183090
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, ... ORPHA:276198
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge... OMIM:213200
Combined Oxidative Phosphorylation Defect Type 13
Poor head control, Axial hypotonia, Decreased nerve conduction velocity, Choreoathetosis, Lower l... ORPHA:319514
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EEG abnormality, Dystonia,... ORPHA:457205
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Ataxia, Apraxia ORPHA:85338
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Mitochondrial Complex I Deficiency, Nuclear Type 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Flexion contracture, Optic atrophy, Spastic t... OMIM:618237
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Calf muscle pseudohypertrophy, Scapular winging, Achilles tendon contracture, Muscular dystrophy,... ORPHA:62
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Seizure, Ataxia, Corticospinal tract atrophy OMIM:551500
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... OMIM:609195
Striatal Degeneration, Autosomal Dominant 1
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance OMIM:609161
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Tremor, Rigid... OMIM:612736
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Hypotonia, Limb ataxia, Tru... OMIM:617560
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Babinski sign, Impaired vibration sensation in the l... OMIM:159550
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency
Ataxia, Generalized hypotonia ORPHA:404493
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Handgrip myotonia, Myotonia, Impaired vibration sensation in the lower limbs, Limb fasciculations... ORPHA:324442
Metachromatic Leukodystrophy
Bulbar palsy, Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, ... OMIM:250100
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, M... ORPHA:254881
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Autosomal Dominant Spastic Paraplegia Type 3
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... ORPHA:100984
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Chorea, Myoclonic seizure, Sei... OMIM:616139
Episodic Ataxia Type 1
Myotonia, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait ORPHA:37612
Ataxia, Deafness, And Cardiomyopathy
Ataxia OMIM:208750
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Torticollis, Head tremor... OMIM:613724
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Multiple Mitochondrial Dysfunctions Syndrome 6
Poor head control, Ataxia, Inability to walk, Optic atrophy, Hypotonia, Dysmetria, Dystonia, Spas... OMIM:617954
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Babinski sign, Spasti... ORPHA:139578
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... ORPHA:98768
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle... ORPHA:370980
Pineocytoma
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Benign Adult Familial Myoclonic Epilepsy
Focal-onset seizure, Generalized-onset seizure, Myoclonus, Hand tremor ORPHA:86814
Spinocerebellar Ataxia Type 2
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... ORPHA:98756
Hydroxylysinuria
Generalized myoclonic seizure OMIM:236900
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical a... OMIM:620145
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Axonal loss, Dystonia, Peripheral demyelination OMIM:616684
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Decreased nerve conduction velocity, Babinski sign, Hypotonia, Dysmetria, Dysdiadochokine... OMIM:618356
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Spinocerebellar Ataxia 28
Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hy... OMIM:610246
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia, Generalized hypotonia ORPHA:306669
Spinocerebellar Ataxia 11
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia OMIM:604432
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... OMIM:301310
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... ORPHA:284324
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Segmental perip... OMIM:601455
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... OMIM:253400
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Gowers sign, Limb-girdle muscle weakness, Progress... ORPHA:254361
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Dystonia, Ataxia, Spastic tetraplegia, Tetraparesis, Infantile muscular hypotonia ORPHA:263410
Paramyotonia Congenita
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia OMIM:168300
Mitochondrial Complex I Deficiency, Nuclear Type 3
Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Generalized hypoto... OMIM:618224
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Hypotonia, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic parap... ORPHA:726
Ataxia-Telangiectasia-Like Disorder 1
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Choreoat... OMIM:604391
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, Distal... OMIM:608895
Huntington Disease
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Clumsiness, Sei... ORPHA:399
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Cerebellar dysplasia OMIM:604213
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Torticollis, Ataxia, Babinski sign, Hypotonia, Choreoathetosis, Limb dystonia, Frequent falls OMIM:619054
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... OMIM:613721
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Hypotonia, Dystonia, Spasticity OMIM:617820
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign,... ORPHA:363400
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Flexion contracture, Optic atrophy, Cereb... OMIM:256730
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... OMIM:619790
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Generalized hypotonia, Dystonia OMIM:616763
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... OMIM:123400
Developmental And Epileptic Encephalopathy 17
Inability to walk, Athetosis, Chorea, Dystonia OMIM:615473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un... OMIM:608099
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Aggressive behavior, Tremor, Se... ORPHA:97229
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Paralysis, Hypotonia, Knee flexion contracture, Facial diplegia, Distal ... OMIM:616286
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Generalized hyp... OMIM:254210
Myopathy, Distal, With Anterior Tibial Onset
Loss of ambulation, Myopathy OMIM:606768
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Paresthesia, Fasciculations, Dysphagia ORPHA:85162
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy, Peripheral demyelination, A... OMIM:607736
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Neck flexor weakness, Progressive muscle weakness, Ragged-red muscle fib... OMIM:157640
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
L-Ferritin Deficiency
Generalized-onset seizure OMIM:615604
Mohr-Tranebjaerg Syndrome
Tremor, Postlingual sensorineural hearing impairment, Abnormal posturing, Dystonia, Progressive s... OMIM:304700
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc... ORPHA:139485
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Atypical Teratoid Rhabdoid Tumor
Hemiplegia/hemiparesis, Hydrocephalus, Cerebral palsy, Ataxia ORPHA:99966
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal muscle weakness, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppa... OMIM:618387
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Severe muscular hypotonia, Decreased compound muscle action potential amplitud... OMIM:618323
Glycosylphosphatidylinositol Biosynthesis Defect 1
Atonic seizure, Generalized non-motor (absence) seizure OMIM:610293
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Chorea, Focal-... OMIM:618917
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in... ORPHA:324604
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency, ... ORPHA:238329
Huntington Disease-Like 3
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... OMIM:604802
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ... OMIM:612937
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Gowe... ORPHA:169186
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... OMIM:603516
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Generalized dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opi... OMIM:619653
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy, Ataxia, Muscle weakness, Dystonia ORPHA:1171
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Dysphagia, Choreoathetosis, Seizure, Frontotemporal cere... ORPHA:391417
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass, Hydrocephalus, Dandy-Walker malformation OMIM:607091
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Developmental And Epileptic Encephalopathy 32
Tremor, Hypotonia, Ataxia, Myoclonus OMIM:616366
Dravet Syndrome
Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen... ORPHA:33069
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor OMIM:613728
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... OMIM:218000
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... OMIM:605637
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:1538
Leukodystrophy, Hypomyelinating, 25
Dystonia, Hypotonia, Gait ataxia OMIM:620243
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... OMIM:300423
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... OMIM:607876
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Resting tremor, Ataxia, Parkinsonism, Bilateral tonic-clonic seizure, Chorea, Cogwhee... OMIM:619725
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacit... OMIM:617066
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Hydrocephalus... OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Nemaline Myopathy 7
Waddling gait, Frequent falls, Fatty replacement of skeletal muscle, Knee flexion contracture, Sh... OMIM:610687
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia, Hypotonia ORPHA:1188
Childhood-Onset Nemaline Myopathy
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... ORPHA:171439
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Generalized myocl... OMIM:610951
Obesity, Hyperphagia, And Developmental Delay
Seizure, Generalized non-motor (absence) seizure OMIM:613886
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Macroglossia, Cardiomyopathy, Calf muscle hypertrophy, Muscula... OMIM:613155
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Peripheral axonal degeneration, Distal muscle weakness, Spinal muscular atrophy, Camptodactyly of... OMIM:604320
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Skeletal muscle atrop... ORPHA:254875
Spastic Paraplegia 30, Autosomal Dominant
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Ankle clonus, Spasti... OMIM:610357
Hyperinsulinism-Hyperammonemia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:35878
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Optic atrophy, Choreoathetosis, Status epilepticus, Myoclonus, Gl... OMIM:609056
Leukodystrophy, Hypomyelinating, 16
Broad-based gait, Abnormal pyramidal sign, Hypotonia, Dysmetria, Gait ataxia, Choreoathetosis, Hy... OMIM:617964
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Decreased nerve conduction velocity, Vocal cord par... ORPHA:397744
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... OMIM:616710
Autosomal Recessive Spastic Paraplegia Type 55
Lower limb spasticity, Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tib... ORPHA:320375
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Distal mus... OMIM:270550
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor OMIM:620221
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper limb spasticity, Scoliosi... ORPHA:320391
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Hypotonia, Gen... OMIM:616756
Alexander Disease Type Ii
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticit... ORPHA:363722
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Axonal loss, Abnormality of extr... OMIM:617672
Infantile Spasms Syndrome
Myoclonus, Infantile spasms ORPHA:3451
Carnosinemia
Generalized myoclonic seizure OMIM:212200
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Glycosylphosphatidylinositol Biosynthesis Defect 15
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Dysme... OMIM:617810
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal s... OMIM:607483
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy OMIM:613152
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contracture, Skeletal mus... OMIM:608840
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Peroneal muscle w... ORPHA:101076
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:91130
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Seizure, Myoclonus OMIM:217200
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Progressive muscle w... OMIM:248800
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials, Anorexia, Decreased body weight, Spasticity, Failure... ORPHA:99852
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
Axial hypotonia, Spastic tetraplegia, Dystonia OMIM:251280
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Gait disturbance, Muscle weakness ORPHA:2928
X-Linked Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... ORPHA:1175
Myasthenic Syndrome, Congenital, 23, Presynaptic
Bulbar palsy, Fatigable weakness, Calf muscle hypertrophy, Neck muscle weakness, Frequent falls, ... OMIM:618197
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... ORPHA:401768
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Distal muscle weakness, Abnormality of the musculature of the lower limbs, Park... ORPHA:329478
Ataxia-Telangiectasia-Like Disorder
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... ORPHA:251347
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dystonia OMIM:300857
Atypical Rett Syndrome
Tremor, Gait ataxia, Loss of ambulation, Restrictive behavior, Tongue thrusting, Seizure, Gait di... ORPHA:3095
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hearing impairment, Hand tremor, Spastic dysarthria, Progressive spastic p... ORPHA:401830
Spastic Ataxia 4, Autosomal Recessive
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... OMIM:613672
Infantile Dystonia-Parkinsonism
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign... ORPHA:238455
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Mitochondrial Complex I Deficiency, Nuclear Type 17
Generalized dystonia, Ataxia, Rigidity, Hypotonia, Gait disturbance, Dystonia OMIM:618239
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, EEG abnormality, Axonal loss, Myoclonus, Apraxia, Abnormal upper motor neuron morp... OMIM:221770
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Babinski sign, Optic atrophy, Se... OMIM:252011
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Dysphagia, Opisthoto... ORPHA:13
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Autosomal Dominant Spastic Paraplegia Type 6
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para... ORPHA:100988
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Hypotonia, Gait disturbanc... ORPHA:508093
Kufor-Rakeb Syndrome
Tremor, Hypertonia, Ataxia, Parkinsonism, Seizure, Gait disturbance, Myoclonus, Torticollis, Aggr... OMIM:606693
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Ataxia, Babinski sign, Hand tremor, Apraxia, Spasticity OMIM:615889
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Myocl... OMIM:619092
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired temperature sen... DECIPHER:29
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Ataxia, Obesity, Muscular dystrophy, Oculomotor apraxia, Dis... ORPHA:459033
Thomsen And Becker Disease
Myotonia ORPHA:614
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Ce... OMIM:617435
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Lower limb muscle weakn... ORPHA:306511
Developmental And Epileptic Encephalopathy 40
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Spasticity, Cerebral cortical atrophy OMIM:617065
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Gait disturbance, Type 1... ORPHA:424107
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... OMIM:612319
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Huntington Disease-Like 3
Abnormal head movements, Caudate atrophy, Extrapyramidal muscular rigidity, Broad-based gait, Cho... ORPHA:157946
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Diaphragmatic paralysis, Paradoxical respiration, ... OMIM:620011
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia, Small for gestational age OMIM:278780
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Gait ataxia, Abnormal sensory nerve co... ORPHA:88628
Spinocerebellar Ataxia Type 6
Incoordination, Babinski sign, Unsteady gait, Gait ataxia, Blepharospasm, Progressive cerebellar ... ORPHA:98758
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Mast Syndrome
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Dysphagi... OMIM:248900
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Hypotonia, Fatigable wea... OMIM:616325
Leukoencephalopathy, Cystic, Without Megalencephaly
Athetosis, Spasticity, Ataxia, Dystonia OMIM:612951
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dysmetria, Distal sens... OMIM:612674
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Isolated Focal Cortical Dysplasia
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Infa... ORPHA:65683
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber... OMIM:617915
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Friedreich Ataxia
Decreased motor nerve conduction velocity, Impaired visually enhanced vestibulo-ocular reflex, Ch... ORPHA:95
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Involuntary movements, Upper limb postural tremor, Blepharospa... ORPHA:98805
Mitochondrial Myopathy With Lactic Acidosis
Hypotonia, Dysmetria, Tip-toe gait, Dystonia, Spasticity OMIM:251950
Scapuloperoneal Myopathy, X-Linked Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... OMIM:300695
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent... OMIM:617072
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Distal muscle weakness, Decreased distal sensory nerve action poten... OMIM:618400
Foxg1 Syndrome
Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Inability to wal... ORPHA:561854
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... OMIM:137440
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Myotonia, Cerebral palsy, Hypertonia, Gait disturbance, Fascicul... ORPHA:682
Spinocerebellar Ataxia 29
Broad-based gait, Truncal titubation, Hypotonia, Limb ataxia, Dysmetria, Gait ataxia, Impaired ta... OMIM:117360
Familial Paroxysmal Ataxia
Hemiplegia, Torticollis, Ataxia, Dystonia ORPHA:97
Neurodevelopmental Disorder With Involuntary Movements
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Infantile sp... OMIM:617493
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Dystonia, Limb joint contracture, Ataxia, Involuntary movements, Rigidity, Cho... OMIM:617282
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Dyston... OMIM:618218
Infantile Refsum Disease
Ataxia, Facial palsy, Progressive muscle weakness, Optic atrophy, Hypotonia, Spasticity ORPHA:772
Combined Oxidative Phosphorylation Deficiency 45
Axial hypotonia, Ataxia, Tremor, Failure to thrive, Muscle weakness OMIM:618951
Spinocerebellar Ataxia Type 3
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... ORPHA:98757
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Flexion contracture, Respiratory insufficiency, Skeletal muscle hypertrophy, Macrog... OMIM:613156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Generalized non-motor (absence) seizure OMIM:618992
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Rigidity, Inability to walk, Optic atrophy, Seizure, Athetosis, Gait disturba... OMIM:618241
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Severe muscular hypotonia, Facial palsy, Spinal muscular atrophy, Re... OMIM:301830
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Pontocerebellar Hypoplasia Type 4
Olivopontocerebellar hypoplasia, Seizure, Hypertonia, Myoclonus, Arthrogryposis multiplex congenita ORPHA:166063
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Flexion contracture, Babinski sign, Optic... OMIM:616505
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Distal muscle weakness, Ataxia, Proximal muscle weakness, Gowers sign, Babinski si... OMIM:617882
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Flexion contracture of finger, Distal muscle weakness, Ataxia, Optic atr... OMIM:609033
Arthrogryposis, Impaired Intellectual Development, And Seizures
Generalized non-motor (absence) seizure, Focal motor seizure OMIM:615553
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia OMIM:254950
Rippling Muscle Disease 2
Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:606072
Bilateral Frontoparietal Polymicrogyria
Bilateral tonic-clonic seizure with generalized onset, Typical absence seizure, Seizure, Gait imb... ORPHA:101070
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Bilateral tonic-clonic seizure, Unsteady gait, Seizure, Truncal ataxia, Abn... OMIM:608636
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... OMIM:617711
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Gai... OMIM:607822
Leukodystrophy, Hypomyelinating, 6
Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Oculomotor aprax... OMIM:612438
Encephalopathy Due To Prosaposin Deficiency
Hypotonia, Myoclonus, Dystonia ORPHA:139406
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Decreased nerve conduction velocity, Generalized muscle weakness, Abnormal pyramidal sign... OMIM:256600
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Gait ata... OMIM:618877
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Intellectual Developmental Disorder, X-Linked 111
Unsteady gait, Spasticity, Cerebral palsy, Dystonia OMIM:301107
Spastic Paraplegia 78, Autosomal Recessive
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... OMIM:617225
Juvenile Amyotrophic Lateral Sclerosis
Neck flexor weakness, Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... ORPHA:300605
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Parkinsonism, Focal-onset seizure, Chorea, Babinski sign, Atypical abse... ORPHA:225147
Aicardi-Goutieres Syndrome 2
Spastic paraplegia, Dystonia OMIM:610181
Acute Peripheral Arterial Occlusion
Paresthesia, Impaired distal tactile sensation, Paralysis ORPHA:90064
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Chorea, Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Limb-girdle muscu... ORPHA:369840
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Restrictive ven... OMIM:158900
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Distal mu... OMIM:162400
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Seizure, Ti... ORPHA:216866
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy, Myopathy, Hypertonia, Failure to thrive ORPHA:26792
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... ORPHA:309256
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Delayed CNS myelination, Ataxia, Paraparesis, Delayed myelination, Oromoto... OMIM:617854
Myotonia, Potassium-Aggravated
Percussion myotonia, Handgrip myotonia, Myotonia OMIM:608390
Leukodystrophy, Hypomyelinating, 9
Lower limb spasticity, Axial hypotonia, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis,... OMIM:616140
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Partington Syndrome
Lower limb spasticity, Gait disturbance, Limb dystonia ORPHA:94083
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Increased... OMIM:125250
Myasthenic Syndrome, Congenital, 12
Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Ophthalmoparesis, ... OMIM:610542
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Ataxia, Cerebral dysmyelination, Distal amyotrophy, Myoclonu... OMIM:609136
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Axial hypotonia, Tremor, Inability to walk, Babinsk... OMIM:617013
Diaminopentanuria
Neurodegeneration, Seizure, Spasticity, Ataxia OMIM:222350
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Neonatal hypotonia, Generalized dystonia, Ataxia, Hypotonia, Choreoathetosis... OMIM:245348
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Increased endomysial connective tissue, Flexion... OMIM:607855
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici... OMIM:616881
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ataxia, Ventriculomegaly OMIM:618709
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Prolonged miniature endplate currents, Axial muscl... ORPHA:98915
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Axial hypotonia, Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hyper... OMIM:615905
Spastic Paraplegia 10, Autosomal Dominant
Lower limb spasticity, Ataxia, Parkinsonism, Babinski sign, Spastic paraplegia, Impaired vibratio... OMIM:604187
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... ORPHA:330050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m... OMIM:617760
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Atrial Standstill
Skeletal muscle atrophy, Dyspnea, Flexion contracture, Abnormal heart morphology, Cardiomyopathy,... ORPHA:1344
Vocal Cord And Pharyngeal Distal Myopathy
Bulbar palsy, Distal muscle weakness, Amyotrophic lateral sclerosis, Abnormal morphology of muscu... ORPHA:600
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Axial hypotonia, Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Generalized hypotonia OMIM:618501
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... OMIM:310200
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Facial palsy, Ophthalmoplegia, Hypotonia, Fatigable weakness, Neck muscle weakness, Neonatal hypo... OMIM:616322
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... OMIM:605021
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Cln5 Disease
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Atrophy/Degeneration affecti... ORPHA:228360
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, Choreoathetosis, Dystonia OMIM:612126
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Bulbar palsy, Amyotrophic lateral sclerosis, Parkinsonism... OMIM:105500
Poliomyelitis
Skeletal muscle atrophy, Bulbar palsy, Abnormal motor nerve conduction velocity, Paralysis, Hypop... ORPHA:2912
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Involuntary movements, Aggressive behavior, Agitation, Status epi... OMIM:617171
Myotonia Permanens
Myotonia, Hypertonia, Gait disturbance ORPHA:99735
Leukodystrophy, Hypomyelinating, 14
Spasticity, Generalized hypotonia, Dystonia OMIM:617899
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia ORPHA:401835
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu... ORPHA:98896
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Spinocerebellar Ataxia 27B, Late-Onset
Postural tremor, Limb ataxia, Gait ataxia OMIM:620174
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Ataxia, Impaired distal ... OMIM:607250
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... OMIM:618823
Spastic Paraplegia 48, Autosomal Recessive
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Tip... OMIM:613647
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Seizure, Myopathy ORPHA:2597
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... ORPHA:52368
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Hyperactivity, Bilateral tonic-clonic seizure, Infantile spasms, Aggressiv... ORPHA:485350
Dystonia 21
Blepharospasm, Torticollis, Laryngeal dystonia OMIM:614588
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Caudate atrophy, Babinski sign, Seizure, Disinhibition, Myoclonus, Gait disturbance, Apraxia, Cer... OMIM:618193
Intellectual Developmental Disorder, Autosomal Recessive 48
Tremor, Inability to walk, Waddling gait OMIM:616269
Gerstmann-Straussler-Scheinker Syndrome
Lower limb muscle weakness, Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality... ORPHA:356
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, O... ORPHA:208447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Congenital muscular dystrophy, Muscular dystrophy OMIM:613151
Spastic Paraplegia Type 7
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Abn... ORPHA:99013
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Joint contracture, Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy OMIM:616516
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Flexion contracture, Status epilepticus, Myoclonus, Spastic... OMIM:618201
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Babinski sign, Hypotonia, Focal dystonia, Spastic dysarthria, Progressive gait a... ORPHA:447757
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Gowers sign... ORPHA:610
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Neonatal respiratory distress, Motheaten muscle fibers, Muscular dystrophy, Increased variability... OMIM:226670
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized... OMIM:233910
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Hypotonia, Muscle weakness OMIM:614885
Variegate Porphyria
Paralysis OMIM:176200
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial dip... OMIM:617302
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Dysphagia, EMG: myopathic abn... OMIM:609284
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Amyotrophic Lateral Sclerosis 2, Juvenile
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Ataxia, Upper... OMIM:205100
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Poor head control, Optic disc pallor, Involuntary movements, Decreased ner... ORPHA:565624
Mitochondrial Complex Ii Deficiency, Nuclear Type 4
Axial hypotonia, Ataxia, Hypotonia, Falls, Generalized hypotonia, Dystonia, Spasticity OMIM:619224
Autosomal Dominant Spastic Paraplegia Type 73
Distal lower limb amyotrophy, Lower limb spasticity, Abnormal lower-limb motor evoked potentials,... ORPHA:444099
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis, Hydranencephaly, Da... OMIM:617967
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... OMIM:300894
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Postural... ORPHA:99947
Alexander Disease
Ataxia, Hydrocephalus, Babinski sign, Dysmetria, Spasticity, Seizure, Abnormal dentate nucleus mo... OMIM:203450
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Early Myoclonic Encephalopathy
Infantile spasms, Focal seizure with eyelid myoclonia, Focal tonic seizure, Focal motor seizure, ... ORPHA:1935
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Tremor, Impaired temperature sensation, Impaired pain... OMIM:619574
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Generalized myoclonic seizure ORPHA:79156
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Hypotonia, Generalized hypotonia, Left ventricular hypertrophy, Peripheral d... OMIM:616733
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Broad-based gait, Frequent falls,... ORPHA:353
Spastic Ataxia 3, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Dystonia, Loss of ambulation, Spasticity OMIM:611390
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Slurred speech, Seizure, Myoclonus, Nonprogressive c... ORPHA:3327
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Reduced forced vital capacity, Achilles tendon contracture, Dilated cardiomyopathy, Macroglossia,... OMIM:607155
Dk1-Cdg
Severe muscular hypotonia, Progressive muscle weakness, Multifocal epileptiform discharges, Hypsa... ORPHA:91131
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Dysphagia, Calf muscle hypertrophy,... OMIM:619178
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Dystonia, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait atax... OMIM:601338
Hyperekplexia 4
Flexion contracture, Cerebral atrophy, Seizure, Hypertonia, Distal arthrogryposis, Myoclonus, Cam... OMIM:618011
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Narp Syndrome
Optic disc pallor, Ataxia, Babinski sign, Seizure, Progressive gait ataxia, Corticospinal tract a... ORPHA:644
Episodic Ataxia, Type 9
Episodic ataxia, Dystonia OMIM:618924
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib... OMIM:616470
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion... ORPHA:272
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Distal muscle weakness, Ataxia, Proximal muscle weakness, Tremor, External ophthalmoplegia OMIM:618637
Spastic Tetraplegia And Axial Hypotonia, Progressive
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rota... OMIM:618598
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Seizure, Myoclonus OMIM:605899
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... ORPHA:309263
Spinocerebellar Ataxia, Autosomal Recessive 21
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... OMIM:616719
Congenital Disorder Of Glycosylation, Type In
Ataxia, Cerebral atrophy, Seizure, Myoclonus, Spasticity OMIM:612015
Spinocerebellar Ataxia 44
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls OMIM:617691
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertoni... OMIM:261640
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy, Gait disturbance, Fasciculations, Neuronal lo... OMIM:608030
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Seizure, Status ... OMIM:271980
Huntington Disease-Like 2
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor OMIM:606438
Developmental And Epileptic Encephalopathy 1
Dystonia, Spastic tetraparesis, Tonic seizure, Infantile spasms, Focal-onset seizure, Abnormal py... OMIM:308350
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Impaired proprioception, Upper limb hypertonia, Limb dystonia ORPHA:319199
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Partington Syndrome
Limb dystonia, Lower limb spasticity, Focal dystonia OMIM:309510
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnorma... ORPHA:500180
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... OMIM:609286
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... OMIM:616795
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Rolandic Epilepsy
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... ORPHA:1945
Spinocerebellar Ataxia 21
Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro... OMIM:607454
Rabies
Vocal cord paresis, Cerebral palsy, Paresthesia ORPHA:770
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Seizure, Hypertonia, Agitation, Myoclonus, Disinhibition, Apraxia, Oculomot... ORPHA:1020
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia OMIM:250620
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Seizure, Myoclonus, Dysmetria OMIM:618251
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Ataxia, Muscular dystrophy OMIM:615350
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Seizure, Neurodegeneration OMIM:613068
Hereditary Continuous Muscle Fiber Activity
Slurred speech, Ataxia, Spastic gait ORPHA:972
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy, Compu... OMIM:619405
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Progressive spasticity, Dystonia, ... ORPHA:527497
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia ORPHA:284271
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walking, Infantile axial ... ORPHA:512260
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at... ORPHA:352403
Lipoid Proteinosis Of Urbach And Wiethe
Seizure, Generalized non-motor (absence) seizure OMIM:247100
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Muscle-Eye-Brain Disease
Hemiplegia/hemiparesis, Hydrocephalus, Meningocele, Optic atrophy, Myopathy, Seizure, Hypertonia,... ORPHA:588
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Involuntary movements, Decreased number of large peripheral myelinated nerve fibers, Opht... OMIM:271245
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower limb hypertonia, Difficul... ORPHA:438114
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Small for gestational age, Tremor, Rigidity, ... ORPHA:70594
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Tetraplegia/tetraparesis, Demyelinating motor neuropathy, Progressive spastic paraparesis, Babins... ORPHA:506353
Mitochondrial Membrane Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Gait disturbance, Shu... ORPHA:289560
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Tetraplegia, Abnormal tendon morphology, Macroglossia, Axona... ORPHA:85446
Spastic Paraplegia 46, Autosomal Recessive
Cerebellar atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand trem... OMIM:614409
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w... ORPHA:98
Late Infantile Neuronal Ceroid Lipofuscinosis
Myoclonic seizure, Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Typical absence seizure... ORPHA:168491
Spinocerebellar Ataxia, Autosomal Recessive 18
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Flexion contracture, Babinski sign... OMIM:616204
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Ataxia, Spastic paraplegia, Poor gross motor coordination, Spastic tetraplegia, Unsteady gait, Po... OMIM:245349
Sialidosis Type 1
Ataxia, Tremor, Decreased nerve conduction velocity, Slurred speech, Hypotonia, EEG abnormality, ... ORPHA:812
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Hypoplasia of the pons, Hand tremor, Limb ataxia, Degeneration o... OMIM:607596
Leukodystrophy, Hypomyelinating, 21
Ataxia, Optic atrophy, Athetosis, Tetraparesis, Dystonia, Failure to thrive OMIM:619310
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Ankle flexion contracture, Tremor, Patent ductus arteriosus, Knee f... OMIM:608799
Salla Disease
Ataxia, Inability to walk, Hypotonia, Athetosis, Generalized hypotonia, Spasticity OMIM:604369
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Mitochondrial Complex I Deficiency, Nuclear Type 23
Hypotonia, Generalized hypotonia, Dystonia OMIM:618244
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough, Failure to thrive OMIM:263000
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi... ORPHA:401866
Peho-Like Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Optic atrophy, Status epilepticus, Myoclonus OMIM:617507
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... ORPHA:101111
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Lower limb spasticity, Hyperactivity, Parkinsonism, Focal EEG discharges with sec... ORPHA:3077
Adenylosuccinase Deficiency
Cerebellar atrophy, Skeletal muscle atrophy, Hyperactivity, Aggressive behavior, Inability to wal... OMIM:103050
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7
Hypotonia, Dystonia OMIM:620359
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Respiratory insufficiency d... OMIM:254090
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Loss of ambulation, Increased variability in muscle fiber diameter, Flexion contracture, Muscle f... OMIM:300717
Autosomal Recessive Spastic Paraplegia Type 26
Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Gait disturbance, Dystonia, Impaire... ORPHA:101006
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea, Involuntary movements OMIM:616939
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Spinocerebellar Ataxia, Autosomal Recessive 7
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... OMIM:609270
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Ataxia, Hypotonia, Myoclonus, Dystonia, Spasticity OMIM:620094
Alexander Disease Type I
Cerebellar atrophy, Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Seizure, Dysphagi... ORPHA:363717
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Increased cerebral lipofuscin, S... OMIM:610539
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development
Postural tremor, Ataxia, Hypotonia, Generalized hypotonia OMIM:300619
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Myoclonus, Familial, 2
Limb myoclonus OMIM:618364
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... ORPHA:33445
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Nemaline Myopathy 8
Facial palsy, Flexion contracture, Dysphagia, Myofibrillar myopathy, Nemaline bodies OMIM:615348
Aicardi-Goutieres Syndrome 6
Tremor, Loss of ambulation, Rigidity, Dystonia OMIM:615010
Autosomal Dominant Optic Atrophy, Classic Form
Cerebellar atrophy, Skeletal muscle atrophy, Scapular winging, Ataxia, Corpus callosum atrophy, S... ORPHA:98673
Familial Infantile Myoclonic Epilepsy
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Bilateral toni... ORPHA:352582
Rigid Spine Syndrome
Waddling gait, Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring con... ORPHA:97244
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Leukodystrophy... OMIM:169500
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Bradykine... ORPHA:329284
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Op... OMIM:210000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... OMIM:613561
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Amyotrophic lateral... OMIM:606070
Metachromatic Leukodystrophy, Adult Form
Orthostatic hypotension due to autonomic dysfunction, Decreased nerve conduction velocity, Chorea... ORPHA:309271
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Spinocerebellar Ataxia 5
Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Hypotonia, Dysmetria, Gai... OMIM:600224
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Sensorineural hearing impairment ORPHA:66633
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy, Seizure, Optic atrophy, Brain atrophy OMIM:618236
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Axonal degeneration, Brachial plexus neuropathy, Low-set ears OMIM:162100
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Peripheral axonal neuropathy, C... OMIM:256840
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Chorea, Cerebral atrophy, Myopathy, Seizure, Hyperkinetic movements, Limb-girdle muscular dystrop... ORPHA:369847
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... OMIM:617519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia ORPHA:371
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Skeletal muscle at... OMIM:604360
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Distal sensory impairment, Seizure, Abnormality of extrapyramidal motor functio... OMIM:604218
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Spastic Paraplegia 75, Autosomal Recessive
Distal lower limb amyotrophy, Babinski sign, Optic atrophy, Hypotonia, Abnormal pyramidal sign, D... OMIM:616680
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Ataxia, Slurred speech, Seizure, Myoclonus OMIM:274240
Spinocerebellar Ataxia Type 18
Cerebellar atrophy, Skeletal muscle atrophy, Somatic sensory dysfunction, Dysmetria, Gait ataxia,... ORPHA:98771
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... ORPHA:504476
Spastic Paraplegia 47, Autosomal Recessive
Waddling gait, Inability to walk, Babinski sign, Spastic paraplegia, Hypertonia, Dystonia, Neonat... OMIM:614066
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... ORPHA:64753
Spinocerebellar Ataxia Type 29
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Oculomotor apraxia, In... ORPHA:208513
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Choreoathetosis, Generalized hypotonia, Dystonia, Frequent falls OMIM:618416
Basal Ganglia Calcification, Idiopathic, 5
Postural tremor, Cerebellar calcifications, Parkinsonism, Vertigo, Chorea, Hand tremor, Depressio... OMIM:615483
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro... OMIM:256850
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Difficult... ORPHA:477673
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Increased variability in muscle fiber diameter, Frequent falls, Muscle fiber... OMIM:300718
Neurodegeneration With Brain Iron Accumulation 1
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperact... OMIM:234200
Sandhoff Disease, Juvenile Form
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abno... ORPHA:309162
Spastic Paraparesis-Deafness Syndrome
Hemiplegia/hemiparesis, Ataxia, Spastic paraparesis ORPHA:2815
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Fasciculations, Difficulty walking OMIM:610717
Nystagmus, Hereditary Vertical
Abnormal vestibulo-ocular reflex, Ataxia OMIM:164150
Spastic Paraplegia 85, Autosomal Recessive
Cerebellar atrophy, Impaired vibratory sensation, Torticollis, Lower limb spasticity, Impaired te... OMIM:619686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, Hypertonia, Muscular dy... OMIM:615351
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Spinal Arachnoiditis
Spastic paraparesis OMIM:182950
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Focal-onset seizure, H... ORPHA:289266
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm... ORPHA:320401
Combined Oxidative Phosphorylation Defect Type 29
Optic neuropathy, Poor coordination, Axonal degeneration, Neurodegeneration, Abnormal autonomic n... ORPHA:478029
Spinocerebellar Ataxia 49
Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormality of extrapyramida... OMIM:619806
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Gait disturbance, Difficulty ... ORPHA:352470
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... OMIM:105400
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Abnormal pinna morphology, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spa... OMIM:300983
Intellectual Developmental Disorder, Autosomal Recessive 47
Focal impaired awareness seizure OMIM:616193
X-Linked Spinocerebellar Ataxia Type 3
Ataxia, Hypotonia ORPHA:85297
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Axial hypotonia, Ataxia, Severe demyelination of the w... ORPHA:1187
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Cednik Syndrome
Poor head control, Ataxia, Optic atrophy, Pachygyria, Polymicrogyria, Abnormality of peripheral n... ORPHA:66631
Phosphoserine Aminotransferase Deficiency
Cerebellar vermis hypoplasia, Seizure, Hypertonia, Myoclonus OMIM:610992
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Ataxia With Vitamin E Deficiency
Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch... OMIM:277460
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Ophthalmoplegia, Spastic parap... ORPHA:171629
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Spastic paraplegia, Spastic tetraplegia, Spasticity, Joint contracture OMIM:617977
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Hypotonia, ... OMIM:600462
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Inability to walk, Ragged-red muscle fibers, Limb mus... OMIM:609560
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Distal muscle weakness, Impaired pain sensation, Dyses... OMIM:613640
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Distal muscle weakness, Claw hand deformity, Axonal loss, Distal up... OMIM:614455
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Hypotonia, Choreoathetosis, Tetraparesis ORPHA:27
Infantile Krabbe Disease
Lower limb spasticity, Poor head control, Prolonged brainstem auditory evoked potentials, Cachexi... ORPHA:206436
Masa Syndrome
Lower limb spasticity, Hydrocephalus, Spastic paraplegia, Paraplegia, Ventriculomegaly OMIM:303350
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, S... OMIM:616239
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Dysphagia OMIM:255100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Abnormal pyramidal sign, Dysmetria, Abnorm... ORPHA:48431
Spinocerebellar Ataxia, Autosomal Recessive 26
Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Limb ataxia, ... OMIM:617633
Neuroferritinopathy
Resting tremor, Caudate atrophy, Dystonia, Abnormal dentate nucleus morphology, Parkinsonism, Inv... ORPHA:157846
Leber Optic Atrophy
Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Myopathy, Dystonia OMIM:535000
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Dystonia-Aphonia Syndrome
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Macroglossia, Seizure,... ORPHA:412217
Tay-Sachs Disease
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge... ORPHA:845
Triosephosphate Isomerase Deficiency
Optic disc pallor, Skeletal muscle atrophy, Tremor, Progressive muscle weakness, Respiratory insu... OMIM:615512
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... ORPHA:119
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Adrenomyeloneuropathy
Back pain, Peripheral axonal degeneration, Female sexual dysfunction, Abnormal libido, Atrophy/De... ORPHA:139399
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... ORPHA:1170
Myasthenic Syndrome, Congenital, 10
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Ophthalmoparesis, Ax... OMIM:254300
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Seizure, Abnormality of extrapyra... ORPHA:79279
Intellectual Developmental Disorder, Autosomal Recessive 14
Intention tremor OMIM:614020
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Multifocal seizures, Clonus, Focal motor status epilepticus, Rigidity, Focal-onset seizure, Babin... OMIM:614498
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Infantile spasms, Inability to walk, Generalized non-motor (absence) seizure, Focal impaired awar... ORPHA:411986
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Dysphagia, Spasticity OMIM:614808
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tonic status epilepticus,... OMIM:619913
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus OMIM:166990
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Fatigable weakness of bulbar m... ORPHA:803
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Infantile spasms, Tonic seizure, Focal-onset seizure, Spasticity, Cerebral atrophy, Seizure, Diff... OMIM:617393
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Tremor, Chorea, Impaired dista... OMIM:606002
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... OMIM:310300
Developmental And Epileptic Encephalopathy 53
Hypotonia, Spastic tetraplegia, Dystonia OMIM:617389
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
X-Linked Immunoneurologic Disorder
Myopathy, Hypertonia, Hemiplegia/hemiparesis ORPHA:2571
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... OMIM:616811
Allan-Herndon-Dudley Syndrome
Poor head control, Axial hypotonia, Ataxia, Small for gestational age, Failure to thrive in infan... ORPHA:59
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Congenital Myopathy 16
Scapular winging, Postural tremor, Flexion contracture, Tongue tremor, EMG: myopathic abnormalities OMIM:618524
Benign Familial Neonatal Epilepsy
Clonus, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure... ORPHA:1949
Schindler Disease, Type I
Optic atrophy, Seizure, Generalized amyotrophy, Myoclonus, Spasticity OMIM:609241
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Paraplegia ORPHA:71211
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness OMIM:615980
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Generalized-onset seizure, Slurred speech, Truncal ataxia, Dysmetria, Limb at... ORPHA:284289
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Abnormal skeletal ... ORPHA:142
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... ORPHA:98772
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Cough, Spasticity, Abnormal pattern of respiration ORPHA:77260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Ragged-red muscle ... OMIM:616479
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Disinhibition, Dysphagia, ... OMIM:612069
De Sanctis-Cacchione Syndrome
Ataxia, Bilateral cryptorchidism, Sensorineural hearing impairment, Babinski sign, Scissor gait, ... OMIM:278800
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity OMIM:607694
Spinocerebellar Ataxia Type 8
Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Spastic ... ORPHA:98760
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Facial hypotonia, Babinski sign, Hypotonia, Spastic dysarthria, Difficulty walking... ORPHA:280763
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Poor head control, Axial hypotonia, Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, EEG a... OMIM:618451
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Spasticity, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Ventricu... OMIM:304100
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Crigler-Najjar Syndrome Type 1
Tremor, Hearing impairment ORPHA:79234
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Seizure, Unsteady gait, Hypertonia, Myoclonus OMIM:610090
Perching Syndrome
Respiratory distress, Joint contracture, Camptodactyly OMIM:617055
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Distal muscle weakness, Proximal mu... OMIM:601152
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Respiratory insufficiency OMIM:613153
Joubert Syndrome 25
Oculomotor apraxia, Ataxia, Generalized hypotonia OMIM:616781
Leukodystrophy, Hypomyelinating, 19, Transient Infantile
Ataxia, Head titubation, Babinski sign, Dysmetria, Generalized hypotonia, Intention tremor OMIM:618688
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Unsteady gait... ORPHA:93952
Congenital Myopathy 2A, Typical, Autosomal Dominant
Waddling gait, Facial palsy, Frequent falls, Rigidity, Limb muscle weakness, Hypertonia, Type 1 m... OMIM:161800
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Myo... OMIM:617290
Fried Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Spastic diplegia ORPHA:85335
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Seizure, Truncal ataxia, Abnormal repetitive mannerisms, Self-mu... OMIM:614063
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion... ORPHA:75840
Spastic Paraplegia 39, Autosomal Recessive
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... OMIM:612020
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Respiratory insufficiency, Cardiomyopathy, Limb muscle weakness, Nemaline bodies OMIM:606842
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Impaired d... OMIM:300623
Pontocerebellar Hypoplasia, Type 2E
Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Toni... OMIM:615851
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Focal im... OMIM:615859
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (abs... OMIM:617600
Gómez-López-Hernández Syndrome
Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Ataxia ORPHA:1532
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Myotonia, Vocal cord paralysis, Tip-toe gait, Gait disturbance ORPHA:98863
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Decreased motor nerve conduction velocity, Failure to thrive in infancy, External... OMIM:619026
Raynaud-Claes Syndrome
Lower limb spasticity, Hypotonia, Progressive cerebellar ataxia, Generalized hypotonia, Dystonia OMIM:300114
Pyridoxine-Dependent Epilepsy
Early onset absence seizures, Epileptic spasm, Focal-onset seizure, Seizure, Status epilepticus, ... ORPHA:3006
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Myotonia, Vocal cord paralysis, Tip-toe gait, Gait disturbance ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Myotonia, Vocal cord paralysis, Tip-toe gait, Gait disturbance ORPHA:98853
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Axial hypotonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Spastic parapleg... OMIM:300055
Developmental And Epileptic Encephalopathy 44
Athetosis, Spasticity, Axial hypotonia, Dystonia OMIM:617132
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Failure to thrive, Respiratory distress OMIM:616974
Peroxisome Biogenesis Disorder 5B
Neonatal hypotonia, Ataxia, Tremor, Unsteady gait, Dysmetria, Generalized hypotonia, Oculomotor a... OMIM:614867
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Intellectual Developmental Disorder, Autosomal Recessive 57
Generalized-onset seizure, Focal-onset seizure, Inability to walk, Seizure, Generalized myoclonic... OMIM:617188
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Axial hypotonia, Sudanophilic leukodystrophy, Abnormal pyramidal sign, E... OMIM:260600
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... OMIM:113610
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Decre... OMIM:606071
Aicardi-Goutieres Syndrome 3
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:610329
Hemimegalencephaly
Epileptic spasm, Optic atrophy, Focal motor seizure, Focal tonic seizure, Hemiparesis, Seizure, S... ORPHA:99802
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Abnormal motor evoked potentials, Thoracic kyphosis... ORPHA:909
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Pr... OMIM:620138
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Dystonia, Spasticity,... OMIM:618238
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Distal muscle weakness, Impaired distal proprioception, Tremor, Babinski sign, Sl... ORPHA:137898
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor c... ORPHA:79264
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... ORPHA:254930
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Impaired distal proprioception, Babinski sign, Impaired vibration sensat... ORPHA:447896
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Intellectual Developmental Disorder, Autosomal Dominant 39
Focal impaired awareness seizure, Generalized non-motor (absence) seizure OMIM:616521
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, Tr... OMIM:614298
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... ORPHA:227510
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili... ORPHA:66624
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response, Hypertonia ORPHA:163985
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Progressive muscle weakness, Ragged-red muscle fibers, Hypotonia, Myoclonus, Righ... OMIM:607426
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Epileptic spasm, Dystonia, Hypoplasia of the pons, Optic atrophy, Seizur... OMIM:617669
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Seizure, Generalized non-motor (absence) seizure OMIM:616033
Spinocerebellar Ataxia, Autosomal Recessive 33
Broad-based gait, Head titubation, Gowers sign, Generalized muscle weakness, Hypotonia, Simplifie... OMIM:620208
Pontocerebellar Hypoplasia, Type 14
Hypotonia, Hypertonia, Spastic tetraplegia, Dystonia OMIM:619301
3-Methylglutaconic Aciduria, Type I
Ataxia, Spastic tetraplegia, Athetosis, Dystonia, Spasticity OMIM:250950
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Hearing ... ORPHA:208441
Microcephaly, Amish Type
Cerebellar vermis hypoplasia, Flexion contracture, Optic atrophy, Myoclonus, Cerebellar hypoplasi... OMIM:607196
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... ORPHA:247815
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Combined Oxidative Phosphorylation Deficiency 51
Rigidity, Optic atrophy, Myoclonus, Cerebral atrophy OMIM:619057
16P11.2P12.2 Microduplication Syndrome
Dystonia ORPHA:261204
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Distal sensory impairment, Neuromyotonia, Fasciculations, Foot dorsiflex... OMIM:137200
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Adrenoleukodystrophy
Bulbar palsy, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Trunc... OMIM:300100
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Abnormal ... ORPHA:70595
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Spinocerebellar Ataxia 36
Cerebellar atrophy, Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, ... OMIM:614153
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Autosomal Recessive Spastic Paraplegia Type 78
Babinski sign, Abnormal pyramidal sign, Progressive cerebellar ataxia, Progressive gait ataxia, P... ORPHA:513436
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, Dystonia, Oculomotor ... OMIM:616267
Muscular Hypertonia, Lethal
Respiratory distress, Hypertonia, Pneumonia OMIM:254120
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia OMIM:255710
Spinocerebellar Ataxia 4
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment OMIM:600223
Parkinsonian-Pyramidal Syndrome
Dystonia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Hypomimic... ORPHA:171695
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ataxia, Myoclonic seizure, Seizure, Myoclonus, Brain atrophy, Spasticity OMIM:618225
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Pure Mitochondrial Myopathy
Progressive external ophthalmoplegia, Scapular winging, Distal muscle weakness, Neck flexor weakn... ORPHA:254854
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... ORPHA:1942
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus, Dysphagia OMIM:619780
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Bruxism, Dysphagia, Choreoathetosis, Cerebellar hypoplasia, Bilate... OMIM:619422
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... ORPHA:289494
Neurodevelopmental Disorder With Dystonia And Seizures
Chorea, Spastic tetraplegia, Hypotonia, Athetosis, Dystonia OMIM:619922
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Hydrocephalus, Spastic paraplegia, Optic... OMIM:614969
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Abnormality of extrapyramidal m... ORPHA:204
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Gait ataxia ORPHA:438134
Pontocerebellar Hypoplasia, Type 15
Cerebellar hypoplasia, Hydrocephalus, Hypertonia, Spastic tetraplegia OMIM:619302
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Metachromatic Leukodystrophy
Dystonia, Ataxia, Incoordination, Tremor, Decreased nerve conduction velocity, Tip-toe gait, Gait... ORPHA:512
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Hypotonia, Gener... OMIM:610131
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia OMIM:617106
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve... ORPHA:52430
Band Heterotopia
Spasticity, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly OMIM:600348
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Rigidity, Optic atrophy, Myopathy, Hypertonia, Muscular dystroph... ORPHA:559
Hypophosphatasia, Childhood
Waddling gait, Myopathy, Seizure OMIM:241510
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, External ophthalmoplegia, Decreased nerve conduction velocity, Optic atrophy, ... ORPHA:485421
Charcot-Marie-Tooth Disease Type 1E
Peroneal muscle weakness, Impaired temperature sensation, Decreased nerve conduction velocity, In... ORPHA:90658
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Generalized dystonia, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Chorea, Hy... ORPHA:70472
Congenital Myopathy 15
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... OMIM:620161
Spinocerebellar Ataxia 34
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... OMIM:133190
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Bilateral tonic-clonic seizure, Chorea, Cerebral atrophy, Opisthotonus, Statu... OMIM:616672
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ataxia, Cachexia ORPHA:1933
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, Lower limb spasticity, EEG with parietal focal spikes, EEG wit... ORPHA:98889
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Coasy Protein-Associated Neurodegeneration
Oromandibular dystonia, Parkinsonism, Difficulty walking, Spastic paraparesis ORPHA:397725
Isolated Glycerol Kinase Deficiency
Myopathy, Seizure ORPHA:408
Christianson Syndrome
Cerebellar atrophy, Decreased muscle mass, Generalized-onset seizure, Dystonia, Dysphagia, Gait a... ORPHA:85278
Folinic Acid-Responsive Seizures
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Optic atrophy, Multifocal epileptiform di... ORPHA:79097
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Central Core Disease
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... ORPHA:597
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seiz... OMIM:618170
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poo... OMIM:617695
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Hearing impairment, Tremor, Head titubation, Spasti... OMIM:312080
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity OMIM:616840
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Unsteady gait, Fasciculations, Dif... ORPHA:464282
Machado-Joseph Disease
Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Dystonia, Ataxia, Par... OMIM:109150
Dystonia 28
Torticollis, Generalized dystonia, Abnormal pyramidal sign, Leg dystonia, Arm dystonia, Oromandib... ORPHA:589618
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spastic tetraparesis, Prog... ORPHA:496756
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Optic atrophy, D... OMIM:610217
Leukodystrophy, Hypomyelinating, 15
Ataxia, Abnormal pyramidal sign, Optic atrophy, Athetosis, Dystonia, Loss of ambulation, Spastici... OMIM:617951
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Seizure, Status epilepticus, Abnormal repetitive mann... OMIM:239500
Spinocerebellar Ataxia 6
Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,... OMIM:183086
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... ORPHA:199351
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Tremor, Cryptorchidism, Sensorineural hearing impairment, Hypertonia, Gait disturb... ORPHA:1192
Leukodystrophy, Hypomyelinating, 20
Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Dystonia OMIM:619071
Glutamate-Cysteine Ligase Deficiency
Myopathy, Ataxia ORPHA:33574
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Disinhibition, Fasciculations, Dysphagia,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Disinhibition, Fasciculations, Dysphagia,... OMIM:616437
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... ORPHA:98808
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... OMIM:300957
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Bilateral tonic-clonic seizure, Aggressive beh... ORPHA:275864
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... ORPHA:596
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... ORPHA:459056
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Dysphagia, Weakness of facial mu... OMIM:620265
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Seizure, Self-injurious behavior, Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... ORPHA:258
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Dyspnea, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic... OMIM:615156
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Opt... ORPHA:1215
Cog8-Cdg
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Seizure, Myoclonus, Atrophy/Degeneration aff... ORPHA:95428
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Congenital-Onset Steinert Myotonic Dystrophy
Speech apraxia, Myotonia, Poor fine motor coordination ORPHA:589821
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Seizure, Self-injurious behavior, Brain atrophy, Bruxis... OMIM:618718
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... ORPHA:98855
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Failure to thrive, Distal muscle weakness, Impaired pa... ORPHA:99949
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... OMIM:311510
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Poor head control, Axial hypotonia, Ataxia, Inability to walk, Multifocal epileptiform discharges... OMIM:618087
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
2,4-Dienoyl-Coa Reductase Deficiency
Poor head control, Incoordination, Ataxia, Clonus, Ophthalmoplegia, Optic atrophy, Hypotonia, Tet... OMIM:616034
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Ragged-red muscle fibers, Hemiparesis, Myopathy, Left ventricular... OMIM:540000
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, EEG abnormality, Cerebellar hypoplasia, Diffi... ORPHA:529665
Syngap1-Related Developmental And Epileptic Encephalopathy
Generalized-onset seizure, Ataxia, Gait disturbance, Eating-induced seizure, Myoclonic absence se... ORPHA:544254
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism OMIM:614251
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Low... OMIM:162210
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Myelopathy... ORPHA:139396
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Gait ataxia OMIM:615651
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Hypertonia, An... OMIM:154276
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Cerebellar malformation, Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Fasciculations OMIM:619141
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Lafora Disease
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ataxia, Focal-on... ORPHA:501
Baralle-Macken Syndrome
Neonatal hypotonia, Inability to walk, Spasticity, Dystonia OMIM:619255
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Myopathy With Extrapyramidal Signs
Ataxia, Clonus, Proximal muscle weakness, Tremor, Gowers sign, Chorea, Perisylvian polymicrogyria... OMIM:615673
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia OMIM:312170
Developmental And Epileptic Encephalopathy 46
Tremor, Failure to thrive, Hypsarrhythmia, Limb hypertonia OMIM:617162
Spinocerebellar Ataxia Type 10
Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetria, Gait ataxia, Prog... ORPHA:98761
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Axial hypotonia, Ataxia, Spastic tetraparesis, Flexion contracture,... ORPHA:35069
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Epileptic spasm, Dystonia, Hypoplasia of the pons, Vocal cord paralysis, Optic atrophy, Seizure, ... ORPHA:500144
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor OMIM:614307
Choreoacanthocytosis
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia... ORPHA:2388
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture, Ton... OMIM:619851
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Cl... OMIM:620352
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Abnormal pyramidal sign, Tetraplegia, Dystonia, Failure to thrive OMIM:300475
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Axial hypotonia, Optic atroph... OMIM:615419
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Gait disturbance, Myopathy ORPHA:2349
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... OMIM:254780
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Progr... ORPHA:466722
Tangier Disease
Peripheral axonal neuropathy, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, P... OMIM:205400
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Poor head control, Ataxia, Spastic tetraparesis, Proximal muscle weaknes... ORPHA:3208
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Ce... ORPHA:309246
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Distal muscle weakness, Foot dorsiflexor weakness, Impaired temperature sensa... ORPHA:36386
Myelopathy, Htlv-1-Associated
Abnormal pyramidal sign, Spastic paraparesis OMIM:159580
Spinocerebellar Ataxia 27A
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Depr... OMIM:193003
Yuan-Harel-Lupski Syndrome
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Hypotonia, Distal sensory i... OMIM:616652
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia OMIM:105300
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Arm dystonia, G... ORPHA:79244
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168605
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Large fleshy ears, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti... OMIM:619556
Oromandibular Dystonia
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... ORPHA:93958
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Limb dystonia, Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Spasticity, Opisthoton... OMIM:619847
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita, Dysphagia OMIM:201550
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Hypo... OMIM:201300
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Tetraparesis, Generalized hypotonia, Dystonia OMIM:618230
Recessive Mitochondrial Ataxia Syndrome
Impaired vibratory sensation, Ataxia, Dysmetria, Gait disturbance, Positive Romberg sign, General... ORPHA:94125
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Hyperactivity, Bilateral tonic-clonic seizure, Facial-lingual fasci... OMIM:617281
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Hydrocephalus, Spastic tetraplegia, Hypertonia, Cerebellar hypoplasia OMIM:618174
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Gait disturb... ORPHA:765
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... OMIM:211530
Posttransplant Acute Limbic Encephalitis
Ataxia, Seizure, Abnormal autonomic nervous system physiology, Myoclonus, Dystonia ORPHA:163921
Kleeblattschaedel
Hydrocephalus OMIM:148800
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Gm1-Gangliosidosis, Type Iii
Slurred speech, Ataxia, Dystonia OMIM:230650
Dystonia-Deafness Syndrome 1
Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Loss of ambulation OMIM:607371
Cystathioninuria
Tremor, External ear malformation ORPHA:212
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia... ORPHA:502423
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Clonus, Decreased compound muscle action potential amplitude, Small thenar emin... OMIM:620080
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Progressive muscle weakness, Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Central... OMIM:619518
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Os odontoideum, Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potential... OMIM:619260
Carnitine Deficiency, Systemic Primary
Respiratory distress, Cardiomegaly, Cardiomyopathy, Myopathy, Reduced muscle carnitine level, End... OMIM:212140
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Myositis, Parkinsonism, Fatigable weakness of skeletal muscles, Fa... ORPHA:1320
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized hypotonia, Limb muscle weakness OMIM:612300
Autosomal Recessive Spastic Paraplegia Type 11
Peripheral axonal neuropathy, Orthostatic hypotension, Ataxia, Parkinsonism, Paraparesis, General... ORPHA:2822
Manganese Poisoning
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyram... ORPHA:306682
Prune1-Related Neurological Syndrome
Clonus, Spastic tetraparesis, Delayed myelination, Optic atrophy, EEG abnormality, Tongue fascicu... ORPHA:544469
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Optic atrophy, Contractures of the large joints, Seizure, Hypertonia, M... ORPHA:3078
Episodic Ataxia Type 4
Abnormal head movements, Frequent falls, Incoordination, Ataxia ORPHA:79136
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Flexion contracture, Gait disturbance, Myopathy ORPHA:157973
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus, Dysphagia ORPHA:324708
Spinocerebellar Ataxia, Autosomal Recessive 11
Gait disturbance, Ataxia, Limb ataxia, Truncal ataxia OMIM:614229
Richieri Costa-Da Silva Syndrome
Inability to walk, Handgrip myotonia, Myotonia of the upper limb, Falls ORPHA:3101
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura... ORPHA:50251
Mitochondrial Complex I Deficiency, Nuclear Type 27
Hypotonia, Ataxia, Spastic tetraplegia OMIM:618248
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Neuromuscular Oculoauditory Syndrome
Poor head control, Decreased nerve conduction velocity, Knee flexion contracture, Wrist flexion c... OMIM:618733
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Cerebellar hypoplasia ORPHA:352682
Combined Oxidative Phosphorylation Deficiency 35
EEG abnormality, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive OMIM:617873
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Spastic paraplegia, Cerebel... OMIM:615191
Mitochondrial Complex I Deficiency, Nuclear Type 5
Axial hypotonia, Ataxia, Ophthalmoplegia, Babinski sign, Optic atrophy, Hypotonia, Generalized hy... OMIM:618226
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Chiari malformation, Frontal encephalocele ORPHA:261102
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... ORPHA:3240
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Generalized-onset seizure, Febrile status epilepticus, Tonic seizure, Spasticity, Seizure, Status... OMIM:612949
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Failure to thrive, Optic nerve hypoplasia, Chorea, Spastic tetraple... OMIM:617864
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Tongue thrusting, Spastic tetraplegia, Op... OMIM:220120
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Distal muscle weakness, Abnormal peripheral myelination, Abnormal periph... ORPHA:168563
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function OMIM:300884
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Ataxia, Dysphagia, Gait ataxia OMIM:613077
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Myofibrillar Myopathy 10
Percussion myotonia OMIM:619040
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Chorea, Generalized hypotonia, Spasticity, Dystonia OMIM:613970
Liang-Wang Syndrome
Status epilepticus, Generalized non-motor (absence) seizure, Ataxia OMIM:618729
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Angelman Syndrome
Tremor, Hyperactivity, Ataxia, Tongue thrusting, Seizure, Myoclonus, Atypical absence seizure, Re... ORPHA:72
Combined Oxidative Phosphorylation Deficiency 50
Poor head control, Generalized dystonia OMIM:619025
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus OMIM:615599
Harel-Yoon Syndrome
Inability to walk, Ataxia, Generalized non-motor (absence) seizure OMIM:617183
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Inability to walk, Opt... OMIM:617988
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Clumsiness... ORPHA:88644
Nipah Virus Disease
Tremor, Seizure, Myoclonus, Anorexia ORPHA:99825
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hydrocephalus, CSF lymphocytic pleiocytosis, Spasticity, Ventriculomegaly OMIM:610333
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Cerebellar vermis hypoplasia, Limb joint contracture, Ankle flexion contracture,... ORPHA:284417
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Inability to walk, Facial diplegia, Generalized... OMIM:611890
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Ataxia, Hypercapnia, Tremor, Reduced for... OMIM:164310
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Ataxia, Seizure OMIM:300653
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Proximal limb muscle stiffness, Myoclonic s... OMIM:184850
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Peroxisomal Acyl-Coa Oxidase Deficiency
Babinski sign, Hypotonia, Hypertonia, Dystonia, Neonatal hypotonia OMIM:264470
Friedreich Ataxia
Impaired vibratory sensation, Ataxia, Babinski sign, Impaired proprioception, Optic atrophy, Limb... OMIM:229300
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... OMIM:614575
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in th... ORPHA:352641
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Ataxia, Axial hypotonia, Choreoathetosis, Hypertonia, Generalized hypotonia... OMIM:272300
Tubulinopathy-Associated Dysgyria
Startle-induced seizure, Ataxia, Generalized non-motor (absence) seizure, Infantile spasms ORPHA:467166
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Infantile spasms, Aggressive behavior, Chorea, Spastic tetraplegia,... OMIM:618321
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Spinocerebellar Ataxia Type 42
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, A... ORPHA:458803
1Q21.1 Microduplication Syndrome
Hydrocephalus, Hypertonia ORPHA:250994
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Spasticity, Babinski sign, Abnormal pyramidal sign, Hydrocephalus ORPHA:397951
Dihydrolipoamide Dehydrogenase Deficiency
Ataxia, Hypotonia, Dystonia OMIM:246900
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Babinski sign, Flexion contrac... OMIM:618186
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Tongue thrusting, Li... OMIM:608643
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Diffuse cerebral atrophy ORPHA:2898
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Dysphagia, Weakne... ORPHA:352447
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Cerebellar vermis hypoplasia, Ankle flexion contracture, Elbow flexion contracture, Increased var... OMIM:619461
Familial Cervical Artery Dissection
Paresthesia, Paralysis ORPHA:36382
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Intellectual Developmental Disorder, X-Linked 30
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300558
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Progressive external ophthalmoplegia, Peripheral axonal n... ORPHA:276244
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Ataxia, Crackles,... OMIM:610978
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... ORPHA:64280
Saccharopinuria
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia ORPHA:3124
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Clonus, Reduced muscle fi... ORPHA:370959
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia ORPHA:683
Congenital Diaphragmatic Hernia
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... ORPHA:2140
Typical Nemaline Myopathy
Waddling gait, Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variabil... ORPHA:171436
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Clonus, Hypoglycemic seizures, Hypertonia, Ataxia, Seizure, EMG: myopathic abnormalities, Global ... ORPHA:480864
Hereditary Hyperekplexia
Ataxia, Rigidity, Seizure, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Limb hypertonia, Cerebellar hypoplasia,... OMIM:620327
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, EEG with burst s... OMIM:615368
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... ORPHA:98795
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Speech apraxia, Ataxia, Hypotonia, Dysmetria, Intention tremor OMIM:619352
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Axial hypotonia, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypert... OMIM:617710
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Cerebellar vermis hypoplasia, Facial hypotonia, Bilateral tonic-clonic seizur... ORPHA:364028
Central Neurocytoma
Abnormal lateral ventricle morphology, Babinski sign, Ataxia, Hydrocephalus ORPHA:73256
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure, Impulsivity, Tonic s... OMIM:619580
Spinocerebellar Ataxia, Autosomal Recessive 28
Cerebellar vermis hypoplasia, Truncal titubation, Optic atrophy, Abnormal pyramidal sign, Gait at... OMIM:618800
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Dysphagia, Loss of ambulation OMIM:613435
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Respiratory failure, Failure to thrive, Muscular dystrophy ORPHA:88618
Leigh Syndrome
Ataxia, Ophthalmoplegia, Optic atrophy, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, F... OMIM:256000
Peho Syndrome
Severe muscular hypotonia, Optic atrophy, Hypsarrhythmia, Myoclonus, Generalized hypotonia, Perip... OMIM:260565
Combined Oxidative Phosphorylation Deficiency 31
Seizure, Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, I... OMIM:617228
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Myopathy, Brain atrophy, Limb dystonia, Increased variabili... OMIM:604377
Machado-Joseph Disease Type 1
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276238
Machado-Joseph Disease Type 2
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... ORPHA:276241
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Seiz... ORPHA:98794
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Axial hypotonia, Spastic tetraparesis, Hypotonia, Simplified gyral pattern, EEG abnormality, Dyst... OMIM:617668
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Gait disturbance ORPHA:29822
Primary Progressive Freezing Gait
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D... ORPHA:75567
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Dilated cardiomyopathy, Tachypnea, Spasticity, Respiratory insuffic... OMIM:614299
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Joint contracture, Muscle w... OMIM:615919
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Progressi... ORPHA:35689
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Hypotonia, Simplified gyral pattern, Truncal ataxia, Generalized hypotonia, Dystonia, Failure to ... OMIM:614407
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Epileptic spasm, Myoclonus, Cerebral atrophy OMIM:619060
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... ORPHA:99956
Developmental And Epileptic Encephalopathy 51
Poor head control, Inability to walk, Babinski sign, Abnormal pyramidal sign, Hypotonia, Dystonia... OMIM:617339
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosis, Cough, ... ORPHA:2414
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cerebellar atrophy, Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign,... OMIM:620089
Kaya-Barakat-Masson Syndrome
Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Spasticity OMIM:619125
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia, Exaggerated startle response, Ataxia, Broad-based gait ORPHA:438216
Developmental And Epileptic Encephalopathy 72
Infantile spasms, Inability to walk, Cerebral atrophy, Hyperkinetic movements, Dysphagia OMIM:618374
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Inability to walk, Optic atrophy, Hypotonia, Abnormality of extrapyramidal motor function, Genera... OMIM:614739
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Abnor... ORPHA:367
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Loss of ability to walk in early childhood, Small for gestational age, Respiratory insufficiency ... OMIM:612073
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy OMIM:615181
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... ORPHA:298
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Dystonia, Spastic tetraparesis, Poor coordination, Optic ... ORPHA:391428
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Babinski sign, Sensory ataxia, Gait ataxia, Decreased ... OMIM:616192
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Hypotonia, Ophthal... OMIM:617143
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Depression, Hyperkinetic movements, Upper limb spasticity, Macrotia, Abnormal... ORPHA:457240
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Hypotonia, Choreoathetosis, Gait d... ORPHA:702
Dpm1-Cdg
Ataxia, Knee flexion contracture, Muscular dystrophy, Camptodactyly, Spasticity, Failure to thrive ORPHA:79322
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Babinski sign, Optic atrophy, Spastic paraplegia... OMIM:609541
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Agenesis of cerebellar vermis, Partial absence of cerebellar vermis, Hy... OMIM:220220
Fatal Familial Insomnia
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus, Dysphagia, Neuronal loss in cent... OMIM:600072
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Myopathy, Rhabdomyolysis, Ataxia ORPHA:713
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Holoprosencephaly, Spasticity ORPHA:2182
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Progressive cerebellar ataxia, Babinski sign, Clonus, Dystonia OMIM:618868
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Distal muscle weakness, Failure to thrive in infancy, Decreased nerve conductio... ORPHA:477817
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Abnormal pyramidal sign ORPHA:93476
Mcleod Syndrome
Generalized-onset seizure, Chorea, Rhabdomyolysis, Myopathy, Seizure, Compulsive behaviors, Dysto... OMIM:300842
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Respiratory distress, Cardiomegaly, Pericardial effusion, Dyspnea, Muscu... OMIM:115197
Sandifer Syndrome
Abnormal head movements, Torticollis, Abnormal posturing ORPHA:71272
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Calf muscle hypertrophy, Fasciculations, Dysphagia, Limb muscle weakness OMIM:313200
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Absence seizure with eyelid myoclonia, Ataxia, Generalized non-motor (absence) seizure, Eyelid my... OMIM:613839
Thyrotoxic Periodic Paralysis
Myotonia, Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis ORPHA:79102
Amyotrophy, Monomelic
Upper limb muscle weakness, Cervical spinal cord atrophy, Interosseus muscle atrophy, Fasciculations OMIM:602440
Sandhoff Disease, Infantile Form
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclon... ORPHA:309155
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Ataxia, Hypotonia ORPHA:1065
Acute Transverse Myelitis
Orthostatic hypotension, Paraparesis, Babinski sign, Paraplegia, Upper limb muscle weakness, Abno... ORPHA:139417
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Spasticity, Spastic paraplegia, Hydrocephalus OMIM:307000
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Glioblastoma
Paralysis ORPHA:360
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy, Muscular dystrophy ORPHA:300751
Developmental And Epileptic Encephalopathy 4
Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Hy... OMIM:612164
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo... OMIM:617675
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Severe temper tantrums, Optic nerve hypoplasia, Dysmetria, Gait ataxi... OMIM:614306
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Acquired Partial Lipodystrophy
Myopathy, Seizure ORPHA:79087
Myotonic Dystrophy 1
Myotonia OMIM:160900
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... ORPHA:254892
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Tremor, Flexion contracture, Cerebral atrophy, Opisthotonus, Choreoat... OMIM:616271
Glutaric Acidemia I
Rigidity, Delayed myelination, Spastic diplegia, Hypotonia, Opisthotonus, Choreoathetosis, Symmet... OMIM:231670
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... OMIM:606763
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... ORPHA:2821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Dilated cardiomyopath... OMIM:253800
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia ORPHA:289916
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Spastic paraplegia, Babinski sign, Flexion contracture, Dysmetria, Ankle c... OMIM:275900
Developmental And Epileptic Encephalopathy 86
Generalized hypotonia, Dystonia OMIM:618910
Nicolaides-Baraitser Syndrome
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:3051
Mucolipidosis Iv
Babinski sign, Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia OMIM:252650
Hereditary Methemoglobinemia
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity ORPHA:621
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... ORPHA:370022
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Spasticity, Hypotonia, Generalized hypotonia, Dystonia OMIM:616277
Developmental And Epileptic Encephalopathy 101
Seizure, Limb joint contracture, Myoclonus, Opisthotonus OMIM:619814
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Ataxia, Proximal muscle weakness, Tremor, Gowers sign, Chorea, Ina... OMIM:615356
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
O'Sullivan-Mcleod Syndrome
Somatic sensory dysfunction, Hand muscle weakness, Tremor, Atrophy of the spinal cord, Intrinsic ... ORPHA:99965
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Rigidity, Percussion myotonia OMIM:620275
Hengel-Maroofian-Schols Syndrome
Inability to walk, Hypotonia, Tetraplegia, Gait imbalance, Dystonia, Spasticity, Upper motor neur... OMIM:619641
Hyperprolinemia Type 2
Early onset absence seizures, Generalized-onset seizure, Unsteady gait, Seizure, Status epileptic... ORPHA:79101
Periventricular Nodular Heterotopia 7
Seizure, Ataxia, Generalized non-motor (absence) seizure, Infantile spasms OMIM:617201
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Ventricular septal defect, Episodic tachyp... ORPHA:26793
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Limb-girdle muscle weakness, Rhabdomyolysis... ORPHA:79240
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Cerebellar hypoplasia ORPHA:1528
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Dystonia, Limb hypertonia OMIM:618247
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... ORPHA:98908
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Seizure, Hypertonia, Status epilepticus, Myoclonus, Global brain atrophy ORPHA:79096
Siddiqi Syndrome
Limb dystonia OMIM:618635
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Rhabdomyolysis, Seizure, Hypertonia, Agitation, Myoclonus... ORPHA:43116
Classic Galactosemia
Speech apraxia, Incoordination, Ataxia, Postural tremor, Clumsiness, Gait disturbance, Gait imbal... ORPHA:79239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Weight loss, Periodic paralysis OMIM:188580
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Hypertonia, Myoclonus, Myoclonic seizure OMIM:618240
Arachnoid Cyst
Distal muscle weakness, Facial palsy, Paraparesis, Cranial nerve compression, Slurred speech, Hem... ORPHA:2356
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Seizure, Myoclonus, Dysphagia, Generaliz... ORPHA:93399
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Developmental And Epileptic Encephalopathy 110
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure OMIM:620149
Postencephalitic Parkinsonism
Resting tremor, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Babinski sign, Abno... ORPHA:97349
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Satb2-Associated Syndrome Due To A Pathogenic Variant
Seizure, Typical absence seizure ORPHA:576283
Hyperekplexia 1
Exaggerated startle response, Seizure, Hypertonia, Myoclonus, Frequent falls, Nocturnal seizures OMIM:149400
Peroxisome Biogenesis Disorder 4B
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Gait disturbance, Generalized hypoton... OMIM:614863
Scheie Syndrome
Abnormal nerve conduction velocity, Cerebral palsy, Spastic paraparesis ORPHA:93474
Subependymal Nodular Heterotopia
Occipital encephalocele, Focal-onset seizure, Myelomeningocele, Meningocele, Seizure, Focal aware... ORPHA:101030
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign, Facial myokymia, O... OMIM:608703
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... OMIM:146500
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Dystonia, Head titubation, Hypotonia, Hypsarrhythmia, Truncal ataxia, Failure to thrive ORPHA:88639
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Cardiomyopathy, Failure to thrive, Respiratory distress ORPHA:79312
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
New-Onset Refractory Status Epilepticus
Abnormal head movements, Cerebellar edema, Seizure precipitated by febrile infection, Bilateral t... ORPHA:363558
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Seizure, ... ORPHA:445038
Waardenburg Syndrome, Type 4A
Aganglionic megacolon, Ataxia, Hypotonia, Leukodystrophy, Spastic paraparesis OMIM:277580
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Tremor, Spastic diplegia, Obesity, Protruding ear, Low-set ears, Dystonia, Chronic otitis media, ... ORPHA:480907
Developmental And Epileptic Encephalopathy 38
Dystonia, Ataxia, Axial hypotonia, Limb hypertonia OMIM:617020
Indifference To Pain, Congenital, Autosomal Recessive
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... OMIM:243000
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Unilateral Polymicrogyria
Involuntary movements, Infantile spasms, Focal-onset seizure, Spastic tetraplegia, Hemiparesis, S... ORPHA:268943
Scimitar Syndrome
Respiratory distress, Ventricular septal defect, Abnormal hemidiaphragm morphology, Dextrocardia,... ORPHA:185
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Pontocerebellar Hypoplasia, Type 9
Axial hypotonia, Facial hypotonia, Clonus, Hypertonia, Dystonia, Spasticity OMIM:615809
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154275
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Tip-toe gait, Generalized ... ORPHA:171881
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Gait disturbance, Myopathy, Aggressive behavior ORPHA:85329
Intellectual Developmental Disorder, Autosomal Recessive 68
Cerebellar atrophy, Hydrocephalus OMIM:618302
Sneddon Syndrome
Tremor, Vertigo, Chorea, Hemiparesis ORPHA:820
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Facial hypotonia, Hypotonia, Gait ataxia, Difficulty walking, Dystonia, Spasticity OMIM:617807
X-Linked Creatine Transporter Deficiency
Ataxia, Chorea, Hypotonia, Athetosis, Hypertonia, Dystonia ORPHA:52503
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Respiratory failu... OMIM:220110
Multiple Sulfatase Deficiency
Ataxia, Neonatal hypotonia, CNS demyelination, Spasticity, Peripheral demyelination OMIM:272200
L1 Syndrome
Aqueductal stenosis, Hemiplegia/hemiparesis, Spasticity, Hydrocephalus ORPHA:275543
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Distal muscle we... OMIM:256810
Molybdenum Cofactor Deficiency, Complementation Group B
Hypotonia, Spastic tetraplegia, Opisthotonus, Axonal loss, Hypertonia, Myoclonic spasms, Neonatal... OMIM:252160
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... ORPHA:308552
Chediak-Higashi Syndrome
Foot dorsiflexor weakness, Ataxia, Tremor, Decreased nerve conduction velocity, Gait disturbance,... OMIM:214500
Japanese Encephalitis
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... ORPHA:79139
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Small for gestational age, Inability to walk, EEG with focal sharp waves, Hypotonia, Hyps... ORPHA:79243
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Spastic tetraplegia OMIM:300886
Myotonic Dystrophy 2
Handgrip myotonia, Myotonia OMIM:602668
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Seizure, Progressive cerebellar ataxia, Myoclonus, G... OMIM:616640
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Spasticity, Ataxia, Dystonia OMIM:617341
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Generalized-onset seizure, Postural tremor, Action tremor, Unsteady gait, Gai... OMIM:254900
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination, Ch... ORPHA:255210
Gaucher Disease, Type Iii
Generalized myoclonic seizure, Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Severe muscular hypotonia, Diastasis recti, Progressive muscle weakness,... ORPHA:488632
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Comp... ORPHA:646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Flexion contracture, Muscular dystrophy OMIM:615249
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign, Distal upper limb muscle weak... OMIM:500013
Birk-Landau-Perez Syndrome
Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Optic atrophy, Limb ataxia, Chor... OMIM:617595
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Ataxia OMIM:614116
D-Glyceric Aciduria
Chorea, Seizure, Myoclonus, Brain atrophy, Spasticity ORPHA:941
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ataxia, Generalized clonic seizure, Tremor, Focal-onset seizure, Inability... OMIM:619229
Pontocerebellar Hypoplasia, Type 2B
Axial hypotonia, Clonus, Chorea, Babinski sign, Hypotonia, Opisthotonus, Extrapyramidal dyskinesi... OMIM:612389
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, Distal muscle weakness, Ataxia, Fac... ORPHA:456312
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Inability to walk, Babinski sign, Perisylvian polymicr... OMIM:615663
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Failure to ... OMIM:615574
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Incoordination, Ventricular septal defect, A... ORPHA:209905
Van Den Bosch Syndrome
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Peripheral demyelination ORPHA:221091
Snakebite Envenomation
Epistaxis, Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory failure, Respiratory pa... ORPHA:449285
Rett Syndrome
Limb apraxia, Inability to walk, Bradykinesia, EEG abnormality, Gait disturbance, Abnormal autono... ORPHA:778
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Camptodactyly OMIM:619751
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Bilateral tonic-clonic seizure, Myopathy, Distal arthrogryposis,... ORPHA:42
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Sensorineural hearing impa... OMIM:619737
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Tetraplegia, Opisthotonus, Hypertonia, Pulmonary a... OMIM:619272
Nasu-Hakola Disease
Chorea, Hydrocephalus, Oculomotor apraxia, Spasticity, Ventriculomegaly ORPHA:2770
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Ataxia, Seizure, A... ORPHA:506
Rasmussen Subacute Encephalitis
Involuntary movements, Hemidystonia, Inability to walk, Increased theta frequency activity in EEG... ORPHA:1929
Intellectual Developmental Disorder, Autosomal Dominant 42
Myoclonic seizure, Limb dystonia, Lower limb muscle weakness, Tonic seizure, Focal hemiclonic sei... OMIM:616973
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Schwartz-Jampel Syndrome, Type 1
Percussion myotonia, Waddling gait OMIM:255800
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Spasticity, Dystonia OMIM:607236
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Photosensitive tonic-clonic seizure, Flexion... OMIM:300243
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Ataxia, Seizure, Left ventricular noncompaction, Myoclonus, Dystonia, Left ven... OMIM:619167
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, EMG: myopathic abnormalities, Respiratory failure, Nocturnal hypoventilation, Hypertroph... OMIM:620326
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Chiari ... OMIM:207950
Succinic Acidemia
Respiratory distress OMIM:600335
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Lipoyltransferase 1 Deficiency
Axial hypotonia, Spastic tetraparesis, Hypotonia, Abnormality of extrapyramidal motor function, D... OMIM:616299
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Tremor, Sensorineural hearing impairment, Bruxism, Protruding... OMIM:618342
Lissencephaly Due To Lis1 Mutation
Infantile spasms, Focal motor seizure, Seizure, Focal impaired awareness seizure, Atypical absenc... ORPHA:95232
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Flexion contracture, Recurrent pneumonia, Skeletal mu... OMIM:613327
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Adrenal Hypoplasia, Congenital
Failure to thrive, Muscular dystrophy OMIM:300200
Fatty Acid Hydroxylase-Associated Neurodegeneration
Generalized dystonia, Progressive spastic paraparesis, Progressive spastic quadriplegia, Progress... ORPHA:329308
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atro... ORPHA:95433
47,Xyy Syndrome
Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Low-... ORPHA:8
Galloway-Mowat Syndrome 10
Cerebellar atrophy, Myoclonus, Cerebral atrophy OMIM:619609
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... OMIM:255125
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Poor gross motor coordination, Hypotonia, Dystonia ORPHA:439218
Chromosome Xp11.23-P11.22 Duplication Syndrome
Generalized non-motor (absence) seizure OMIM:300801
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Respiratory insufficiency due ... ORPHA:365
Neuraminidase Deficiency
Skeletal muscle atrophy, Slurred speech, Dysmetria, Seizure, Myoclonus OMIM:256550
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Bilateral tonic-clonic seizure, Infa... ORPHA:1934
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Hypotonia, Generalized hypotonia, Dystonia OMIM:614654
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Babinski sign, Hoffmann sign... OMIM:601162
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Dyspnea, Asymmetric septal hypertrophy, Left ventricular hypertrophy, Hypertrophic car... OMIM:613838
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexio... OMIM:255200
Houge-Janssens Syndrome 3
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... OMIM:618354
Valinemia
Hyperkinetic movements OMIM:277100
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Gait ataxia, Abdominal obe... OMIM:300354
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Bilateral c... OMIM:619777
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Ataxia, Postural tremor, Fle... OMIM:301072
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ... ORPHA:280210
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Hypotonia, Dysmetria OMIM:615578
Rett Syndrome
Dystonia, Cachexia, Gait apraxia, Gait ataxia, EEG abnormality, Truncal ataxia, Spasticity OMIM:312750
Neurodevelopmental Disorder With Spasticity And Poor Growth
Generalized dystonia, Ataxia, Clonus, Infantile spasms, Achilles tendon contracture, Oculomotor a... OMIM:618076
Microcephaly-Capillary Malformation Syndrome
Infantile spasms, Spastic tetraparesis, Optic atrophy, Cerebral atrophy, Seizure, Myoclonus, Righ... OMIM:614261
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Cerebral atrophy, Seizure, Myoclonus, Joint contracture OMIM:614462
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy OMIM:616538
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Bulbar palsy, Ataxia, Facial palsy, Weakness of facial... ORPHA:79138
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Tonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Seizure, Statu... OMIM:300260
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Progressive muscle weakness, Hypotonia, Skeletal muscle atrophy, Increased sarcoplasmic glycogen ORPHA:264580
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Congenital contracture, Neonatal respiratory distress OMIM:615042
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing... ORPHA:1329
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Progressive choreoathetosis, Par... OMIM:200150
Developmental And Epileptic Encephalopathy 29
Axial hypotonia, Chorea, Blepharospasm, Limb dystonia, Spasticity OMIM:616339
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Inability to walk, Chorea, Hypotonia, Hemiparesis, Dystonia, Limb hypertonia OMIM:618004
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Myoclonic seizure, Seizure, Myocl... OMIM:614946
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
Coach Syndrome 2
Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia OMIM:619111
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Axonal loss, Abnormal muscle tone, Myocl... OMIM:252150
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac... ORPHA:521411
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Orthostatic hypotension due to autonomic dysfunction, Ataxia, Tremo... OMIM:105210
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Waddling gait, Myopathy ORPHA:166002
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Hemangioblastoma
Cerebellar edema, Hydrocephalus, Cerebellar hemangioblastoma ORPHA:252054
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus... ORPHA:3092
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hemiparesis, Hydrocephalus, Hypoplasia of the pons OMIM:617542
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Acute rhabdomyolysis, Clonus, Oral-pharyngeal dysphagia, Rhabdomyolysis, Poor coordinatio... OMIM:616878
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Trichothiodystrophy 8, Nonphotosensitive
Head titubation, Babinski sign, Spastic diplegia, Ankle clonus, Spasticity, Craniofacial dystonia OMIM:619691
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Rigidity, Sensorineural hearing ... ORPHA:521426
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Inability to walk, Seizure, Broad-based gait, Myoclonus OMIM:616158
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rhabdomyolysis, ... ORPHA:454836
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:210122
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Isolated Atp Synthase Deficiency
Ataxia, Ophthalmoplegia, Spastic paraplegia, Optic atrophy, Hypotonia, Tetraplegia, Dystonia, Mus... ORPHA:254913
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Respiratory distress ORPHA:89844
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Failure to thrive, Muscle weakness OMIM:617744
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance ORPHA:83629
Farber Disease
Skeletal muscle atrophy, Paraparesis, Flexion contracture, Myoclonus, Infantile muscular hypotoni... ORPHA:333
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Optic atrophy, Hypotonia, Dystonia, Spasticity, Failure to thrive OMIM:614702
Spinal Arteriovenous Metameric Syndrome
Paraparesis ORPHA:53721
Hypoglossia With Situs Inversus
Situs inversus totalis, Upper airway obstruction, Respiratory distress OMIM:612776
Niemann-Pick Disease, Type C1
Ataxia, Hypotonia, Gait ataxia, Generalized hypotonia, Dystonia, Cataplexy, Spasticity OMIM:257220
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Flexion contracture, Abnormal pyramidal sign, Myopathy, Seizure, Weakness of facial muscu... OMIM:201470
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy OMIM:618234
Non-Functioning Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Vocal cord paralysis, ... ORPHA:94080
Chanarin-Dorfman Syndrome
Myopathy, Ataxia OMIM:275630
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Xeroderma Pigmentosum, Complementation Group F
Tremor, Decreased body weight, Ataxia, Hearing impairment OMIM:278760
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor, Failure to thrive OMIM:615595
Optic Atrophy 5
Abnormality of pattern visual evoked potentials OMIM:610708
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... OMIM:271225
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Seizure, Tongue fasciculations, Myoclonus, Cerebral cortical atrophy OMIM:614922
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, EEG with burst suppression, Chorea, Babinski sign, Opisthotonus, Hypsarrhythmia,... OMIM:618792
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malforma... ORPHA:163961
Mitochondrial Dna Depletion Syndrome 19
Infantile spasms, Focal-onset seizure, Tetraparesis, Myoclonus, Spasticity OMIM:618972
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart... ORPHA:314655
Pantothenate Kinase-Associated Neurodegeneration
Dystonia, Parkinsonism, Rigidity, Slurred speech, Leg dystonia, Choreoathetosis, Tip-toe gait, Ab... ORPHA:157850
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Inability to walk, Generalized non-motor (absence) seizure, Myocl... OMIM:614207
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Generalized non-motor (absence) seiz... ORPHA:395
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... ORPHA:411602
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset... OMIM:610042
Sialidosis Type 2
Tremor, Ataxia, Hearing impairment ORPHA:87876
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Sensorineural hearing impairment, Babinski sign, Impaired... ORPHA:447753
Multiple Mitochondrial Dysfunctions Syndrome 1
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... OMIM:605711
Cystinosis
Abnormal pyramidal sign, Myopathy, Gait disturbance, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Multiple joint contractures, Bilateral tonic-clonic seizure... ORPHA:447997
4Q21 Microdeletion Syndrome
Tremor, Self-injurious behavior, Cerebellar hypoplasia, Low-set ears, Abnormal repetitive manneri... ORPHA:238750
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ach... OMIM:620351
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Chorea, Athetosis, Impaired oropharyngeal swallow response, Myoclonus, Oculomotor apraxia, Atonic... ORPHA:404454
Congenital Myopathy 9A
EMG: myopathic abnormalities, Tongue fasciculations, Akinesia OMIM:618822
Nmda Receptor Encephalitis
Orthostatic hypotension, Generalized-onset seizure, Involuntary movements, Oculogyric crisis, Ort... ORPHA:217253
Glutaryl-Coa Dehydrogenase Deficiency
Dystonia, Ataxia, Poor motor coordination, Severe muscular hypotonia, Tremor, Rigidity, Chorea, A... ORPHA:25
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy OMIM:616549
Usher Syndrome
Ataxia, Vestibular areflexia, Myopathy, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical a... ORPHA:886
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Babinski sign, Choreoathetosis, Lower limb hypertonia, Upper limb hypertonia... ORPHA:2524
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increas... OMIM:620278
Early-Onset Lafora Body Disease
Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... OMIM:619334
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia OMIM:620358
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia ORPHA:1578
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Dyspnea, Hypertrophic cardiomyopathy, Myocardial fibrosis OMIM:613873
Inhalational Botulism
Paralysis ORPHA:254504
Developmental And Epileptic Encephalopathy 2
Generalized-onset seizure, Multifocal seizures, Infantile spasms, Inability to walk, Seizure, Myo... OMIM:300672
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture, Hypertonia, Spasticity, Failure to thrive ORPHA:544503
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response ORPHA:3198
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Rigidity, Focal-onset seizure, Hydrocephalus, Optic atrophy, Spastic tetraplegia, Chiari ... OMIM:618476
Oxoglutaric Aciduria
Hydrocephalus, Hypertonia, Ataxia ORPHA:31
Diencephalic Syndrome
Hydrocephalus ORPHA:1672
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Infantile spasms, Optic nerve hypoplasia, Myoclonic seizure, Dysphagia, Ap... ORPHA:572013
Angioedema, Hereditary, 1
Peripheral axonal neuropathy, Axonal degeneration OMIM:106100
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Central nervous system degeneration, Myopathy, Shoulder girdle muscle weakness, Increased... ORPHA:98907
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk, Generalized non-motor (absen... ORPHA:457351
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Ne... ORPHA:431361
Sjogren-Larsson Syndrome
CNS demyelination, Spasticity, Flexion contracture, Spastic paraparesis OMIM:270200
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Spastic tetraparesis, Dystonia ORPHA:404451
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Aggressive behavior, Ragged-red muscle fibers, Flexion contracture, Rhab... ORPHA:17
Biemond Syndrome Type 2
Hydrocephalus ORPHA:141333
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Axial hypotonia, Aganglionic megacolon, Hypotonia, Hypertonia, ... OMIM:300352
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
EEG abnormality, Hypotonia, Generalized hypotonia, Dystonia OMIM:617268
Cerebral Visual Impairment
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Clumsine... ORPHA:447788
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Ataxia, Apnea, Tremor, Rigidity, Chorea, Episodic hemiple... ORPHA:2131
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Stillbirth OMIM:276950
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Seizure, Myoclonus OMIM:300673
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Cerebral atrophy, Seizure, Hypertonia, Hyperkinetic movements, Gait disturbance, Cerebral cortica... OMIM:236270
Porphyria, Acute Intermittent
Respiratory paralysis, Paresthesia, Paralysis OMIM:176000
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Rift Valley Fever
Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity, Muscle weakness ORPHA:319251
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia ORPHA:3350
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Athetos... ORPHA:79351
Supranuclear Palsy, Progressive, 2
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... OMIM:609454
Wilson Disease
Limb dystonia, Poor motor coordination, Tremor, Rigidity, Hypoesthesia, Decreased nerve conductio... OMIM:277900
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Resting tremor, Ataxia, Sensorineural hearing impairment, Babinski sign, Opti... ORPHA:314404
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Flexion contracture, Gait ataxia, Atrial septal defect, Hypertrophic cardio... OMIM:619383
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Malaria
Respiratory distress ORPHA:673
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hemiparesis, Paraparesis, Paraplegia, Leukodystrophy ORPHA:79124
Congenital Sialidosis Type 2
Ataxia, Hydrocephalus, Optic atrophy, Dysmetria, Seizure, Myoclonus, Spasticity ORPHA:93400
Fragile X Syndrome
Abnormal head movements, Hyperactivity, Self-biting, Seizure, Recurrent hand flapping OMIM:300624
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity ORPHA:2828
Intellectual Developmental Disorder, Autosomal Dominant 43
Poor head control, Ataxia, Hypotonia, Dystonia, Failure to thrive OMIM:616977
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:2299
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Gait disturbance, Dystonia OMIM:617903
Joubert Syndrome 1
Optic disc pallor, Hemifacial spasm, Hyperactivity, Ataxia, Cerebellar vermis hypoplasia, Agenesi... OMIM:213300
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Ataxia, Parkinsonism, Tremor, Inability to walk, Decreased nerve con... ORPHA:167
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Walker-Warburg Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy ORPHA:899
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Tremor, EMG: myopathic abnormalities ORPHA:457365
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Spasticity, Generalized dystonia OMIM:618235
Moebius Syndrome
Respiratory distress, Poor coordination, Clumsiness, Congenital fibrosis of extraocular muscles, ... OMIM:157900
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Bilateral tonic-clonic seizure, Op... ORPHA:496641
Mitochondrial Complex I Deficiency, Nuclear Type 33
Axial hypotonia, Small for gestational age, Optic atrophy, Simplified gyral pattern, Generalized ... OMIM:618253
Whipple Disease
Myositis, Ataxia, Anorexia, Hydrocephalus, Abnormal pyramidal sign, Seizure, Myoclonus, Polydipsia ORPHA:3452
Stuve-Wiedemann Syndrome 1
Myotonia, Impaired pain sensation OMIM:601559
Melas
Abnormal central motor function, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Rag... ORPHA:550
Ataxia-Telangiectasia
Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive ORPHA:100
Igg4-Related Pachymeningitis
Abnormality of cervical plexus, Paraparesis, Abnormality of the brachial nerve plexus, Lower limb... ORPHA:449427
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Schwartz-Jampel Syndrome
Blepharospasm, Myotonia, Hypertonia, Gait disturbance ORPHA:800
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Axial hypotonia, Dystonia ORPHA:289504
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Spastic parap... OMIM:618527
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) seizure, Myoclonic seizur... OMIM:615398
Combined Oxidative Phosphorylation Deficiency 39
Involuntary movements, Babinski sign, Simplified gyral pattern, Hypsarrhythmia, Ankle clonus, Dys... OMIM:618397
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Partial absence of cerebellar vermis, Skeletal muscle hypertrophy, ... OMIM:613150
Proximal 16P11.2 Microduplication Syndrome
Tremor, Microtia, Compulsive behaviors, Attention deficit hyperactivity disorder, Failure to thri... ORPHA:370079
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Optic atrophy, Ataxia OMIM:610651
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Generalized muscle weakness, Increased body weight ORPHA:276608
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Combined Oxidative Phosphorylation Deficiency 57
Seizure, Myoclonus, Cerebral atrophy, Dystonia OMIM:620167
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Cranial nerve compression, Babinski sign, Voca... ORPHA:268882
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:2519
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/adolescence, Gen... OMIM:620224
Pseudohypoparathyroidism Type 2
Calcinosis, Paresthesia, Myoclonic spasms, Laryngeal dystonia, Hypocalcemic seizures ORPHA:94090
Hurler Syndrome
Cerebral palsy, Camptodactyly of finger, Abnormal pyramidal sign, Hypotonia, Macroglossia, Spasti... ORPHA:93473
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Leukodystrophy, Intention tremor, Ataxia, Hypsarrhythmia, EEG abnormality, To... OMIM:619475
Adams-Oliver Syndrome 2
Hydrocephalus, Retrocerebellar cyst, Lateral ventricle dilatation, Cerebellar hypoplasia, Limb hy... OMIM:614219
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Inability to walk, Babinski sign, Cerebral atrophy, Seizure, Hyperkineti... OMIM:616420
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Abnormal autonomic nervous system physiology, Myoclonus ORPHA:168593
Developmental And Epileptic Encephalopathy 82
Neonatal hypotonia, Spastic tetraplegia, Spastic paraparesis OMIM:618721
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Cockayne Syndrome Type 1
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Cryptorchidism, Optic... ORPHA:90321
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Tetraparesis OMIM:602080
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Flexion contracture, Elbow flexion contracture, Kne... OMIM:214150
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Hypertonia, Spastic tetraparesis, Chiari malformation ORPHA:171839
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... OMIM:610921
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... ORPHA:309854
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia OMIM:277410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Lateral ventricle dilatation, Cerebellar... OMIM:613154
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Generalized non-motor (a... OMIM:300912
Mosaic Variegated Aneuploidy Syndrome
Apnea, Rhabdomyosarcoma, Muscular dystrophy, Subvalvular aortic stenosis, Atrial septal defect ORPHA:1052
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Ataxia, Weight loss ORPHA:79242
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Leukodystrophy, Progressive, Early Childhood-Onset
Appendicular spasticity, Axial hypotonia, Dystonia OMIM:617762
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Sengers Syndrome
Myopathy OMIM:212350
Ddost-Cdg
Tremor, Failure to thrive, Oromotor apraxia ORPHA:300536
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Inability to walk, Slurred speech, Hypotonia, Athetosis, Dystonia, Spasticity ORPHA:357058
Filippi Syndrome
Decreased body weight, Optic atrophy, Dystonia OMIM:272440
Congenital Disorder Of Deglycosylation 1
Restlessness, Pain insensitivity, Facial hypotonia, Involuntary movements, Oral-pharyngeal dyspha... OMIM:615273
Combined Oxidative Phosphorylation Deficiency 12
Poor head control, Axial hypotonia, Spastic tetraparesis, Ophthalmoplegia, Babinski sign, Hypoton... OMIM:614924
Tay-Sachs Disease
Exaggerated startle response, Hypertonia OMIM:272800
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Hydrocephalus ORPHA:2181
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Congenital Toxoplasmosis
Hydrocephalus, Ventriculomegaly ORPHA:858
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Respiratory distress, Tracheomalacia, Situs inversus totalis OMIM:202650
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Ophthal... ORPHA:297
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypotonia, Ankle clonus, Falls, Difficulty walking, Dystonia OMIM:618222
East Syndrome
Cerebellar atrophy, Salt craving, Ataxia, Sensorineural hearing impairment, Polydipsia, Action tr... ORPHA:199343
Tetanus
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Spasticity of pharyn... ORPHA:3299
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Hypertonia... OMIM:618426
Presynaptic Congenital Myasthenic Syndromes
Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle w... ORPHA:98914
Congenital Myasthenic Syndrome
Ataxia, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle w... ORPHA:590
Cockayne Syndrome B
Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Tremor, Decreased nerve c... OMIM:133540
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy OMIM:601419
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
Pettigrew Syndrome
Ventriculomegaly, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Gait ataxia, ... OMIM:304340
Wars2-Related Combined Oxidative Phosphorylation Defect
Poor head control, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Muscle weakness, Di... ORPHA:572798
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Severe demyelination of the white matter, Optic atrophy, Hypotonia, Poor fine motor coord... ORPHA:79282
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Rett Syndrome, Congenital Variant
Apraxia, Chorea, Simplified gyral pattern, Athetosis, EEG abnormality, Generalized hypotonia, Dys... OMIM:613454
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Classic Phenylketonuria
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attention deficit hyperactiv... ORPHA:79254
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing, Cerebral atrophy OMIM:614857
Pontocerebellar Hypoplasia, Type 2A
Chorea, Dystonia, Extrapyramidal dyskinesia, Opisthotonus OMIM:277470
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Small for gestational a... OMIM:260400
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Williams-Beuren Region Duplication Syndrome
Speech apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly OMIM:609757
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Ataxia, Paraplegia ORPHA:927
Neu-Laxova Syndrome
Skeletal muscle atrophy, Flexion contracture, Opisthotonus, Muscular dystrophy, Aplasia/Hypoplasi... ORPHA:2671
Lesch-Nyhan Syndrome
Hypotonia, Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia,... OMIM:300322
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive ORPHA:261304
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Oculomotor apraxia, Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly OMIM:615630
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Paraplegia, Neural tube defect, Hypertonia, Upp... ORPHA:268810
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Amelocerebrohypohidrotic Syndrome
Spasticity, Hydrocephalus ORPHA:1946
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Wieacker-Wolff Syndrome
Facial palsy, Hypotonia, Generalized hypotonia, Dystonia, Oculomotor apraxia, Spasticity, Apraxia... OMIM:314580
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Kyphoscoliosis, Short neck, Abnormal auditory evoked potentials, Cryptorchidi... OMIM:193700
Cockayne Syndrome A
Ataxia, Abnormal auditory evoked potentials, Tremor, Decreased nerve conduction velocity, Optic a... OMIM:216400
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation ORPHA:93262
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Cimdag Syndrome
Ataxia, Chorea, Hypotonia, Dystonia, Spasticity OMIM:619273
Pelizaeus-Merzbacher Disease In Female Carriers
Lower limb spasticity, Babinski sign, Hypotonia, CNS hypomyelination, Spastic paraparesis, Hand a... ORPHA:280229
Focal Facial Dermal Dysplasia Type Iv
Hemiparesis, Hydrocephalus ORPHA:398189
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Tremor, Unsteady gait, Optic atrophy, Hypotonia, Weight loss, Abnor... ORPHA:354
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Hydrocephalus, Abnor... ORPHA:59315
Sneddon Syndrome
Tremor, Hemiplegia, Facial palsy OMIM:182410
Familial Isolated Hypoparathyroidism
Myopathy, Seizure ORPHA:2238
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor,... OMIM:619680
Dilated Cardiomyopathy With Ataxia
Lower limb spasticity, Ataxia, Optic atrophy, Dystonia, Neonatal hypotonia, Muscle weakness, Acti... ORPHA:66634
Central Precocious Puberty In Male
Hydrocephalus ORPHA:649929
Polyendocrine-Polyneuropathy Syndrome
Abnormal pyramidal sign, Ataxia, Dystonia ORPHA:453533
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse... OMIM:612863
Wolfram Syndrome
Ataxia, Optic atrophy, Myopathy, Seizure, Abnormal autonomic nervous system physiology, Polydipsi... ORPHA:3463
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Dandy-Walk... OMIM:611134
Polyendocrine-Polyneuropathy Syndrome
Ataxia, Dystonia OMIM:616113
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Stt3B-Cdg
Respiratory distress, Failure to thrive ORPHA:370924
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Generalized non-motor (absence) seizure ORPHA:363686
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect OMIM:617895
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Microtriplication 11Q24.1
Speech apraxia, Retrocerebellar cyst, Seizure, Hyperkinetic movements, Bruxism ORPHA:289522
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly OMIM:618577
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Unsteady gait, Bilateral tonic-clo... OMIM:617798
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co... OMIM:261740
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Ataxia, Hypotonia, Multifocal epileptiform discharges, EEG abnormality, Macroglos... ORPHA:369891
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Limb hypertonia, Pneumothorax, Cardiomegaly OMIM:620306
Intellectual Developmental Disorder, Autosomal Dominant 22
Seizure, Generalized non-motor (absence) seizure OMIM:612337
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Failure to thrive OMIM:251000
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus ORPHA:2183
Craniofacial Dyssynostosis With Short Stature
Chiari type I malformation, Hydrocephalus, Ventriculomegaly OMIM:218350
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Dandy-Walker malformation, Rhabdomyolysis, Seizure ORPHA:228305
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia, Large for gestational age ORPHA:226313
Diamond-Blackfan Anemia 10
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... OMIM:613309
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive OMIM:615597
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Double outlet left ventricle, Failure to thrive, Ventricular septal defect,... ORPHA:2255
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus OMIM:619424
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Optic nerve hypoplasia, Inability to walk, Oculomotor apraxia, Simpl... ORPHA:300570
Autosomal Recessive Spastic Paraplegia Type 20
Speech apraxia, Skeletal muscle atrophy, Babinski sign, Slurred speech, Spastic dysarthria, Ankle... ORPHA:101000
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Hydranencephaly, Dandy-Walker malformation OMIM:225790
Adrenomyodystrophy
Myopathy, Seizure ORPHA:977
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Patent ductus arteriosus, Recurrent pneumonia, F... OMIM:607143
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Hypotonia, Spasticity, Simplified gyral pattern, Dystonia OMIM:619286
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Ataxia, Intention tremor OMIM:117300
Cockayne Syndrome
Optic disc pallor, Somatic sensory dysfunction, Axial hypotonia, Ataxia, Cachexia, Decreased nerv... ORPHA:191
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Restlessness, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis OMIM:617186
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Pseudo-Torch Syndrome 1
Failure to thrive, Axial hypotonia, Hypotonia, Lissencephaly, Dystonia, Spasticity, Pachygyria, P... OMIM:251290
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Ataxia-Telangiectasia
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Seizure, Progressive cerebell... OMIM:208900
9P13 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Myoclonus, Hand tremor, Bruxism ORPHA:324313
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears OMIM:617301
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Kanzaki Disease
Peripheral axonal neuropathy, Sensorineural hearing impairment, Axonal degeneration, Cerebral atr... OMIM:609242
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Oligozoospermia OMIM:314300
Sandhoff Disease
Exaggerated startle response, Orthostatic hypotension, Ataxia, Fasciculations, Spasticity, Upper ... OMIM:268800
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Orofaciodigital Syndrome Type 3
Cerebellar vermis hypoplasia, Focal seizure with eyelid myoclonia, Myoclonus, Oculomotor apraxia,... ORPHA:2752
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Typhoid
Tremor, Hypertonia, Ataxia ORPHA:99745
Pallister-Hall-Like Syndrome
Chiari type I malformation, Occipital encephalocele, Hydrocephalus OMIM:241800
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Posteriorly rotated ears, Rigidity, Babinski sign, Abnormal pyramid... OMIM:617527
Kleefstra Syndrome Due To 9Q34 Microdeletion
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:96147
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Seizure, Myoclonus, Brain atrophy, Polyphagia ORPHA:251004
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Involuntary movements, Increased theta frequency activity in EEG, EEG with f... ORPHA:98784
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Cardiomegaly, Opisthotonus, Decreased body weight, Arthrogryposis mu... OMIM:608013
Congenital Disorder Of Glycosylation, Type Ii
Decreased body weight, Hypsarrhythmia, Generalized hypotonia, Dystonia OMIM:607906
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegen... OMIM:203700
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus ORPHA:380
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus OMIM:560000
Xp21 Deletion Syndrome
Decreased muscle mass, Calf muscle hypertrophy, Myopathy, Seizure, Spasticity ORPHA:261476
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Tetraparesis, Joint contracture of the 5th finger, Spasticity OMIM:164200
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Cardiomegaly, Atrial septal defect, Left ventricula... ORPHA:79330
Immunodeficiency 9
Myopathy, Difficulty walking OMIM:612782
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Apl... ORPHA:1908
Chylomicron Retention Disease
Myopathy, EMG: myopathic abnormalities, Impaired proprioception ORPHA:71
Esophageal Atresia
Respiratory distress, Ventricular septal defect, Small for gestational age, Failure to thrive in ... ORPHA:1199
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Tongue fasciculations OMIM:608800
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Chylothorax, Atrial septal defect, Pleural effusion OMIM:617300
Ogden Syndrome
Abnormal head movements, Torticollis, Cerebral atrophy, Hypertonia, Shuffling gait ORPHA:276432
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Crouzon Syndrome
Hydrocephalus, Chiari malformation, Cerebellar hypoplasia ORPHA:207
Nabais Sa-De Vries Syndrome, Type 2
Failure to thrive in infancy, Chorea, Hemiparesis, Dystonia, Neonatal hypotonia OMIM:618829
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Insulinoma
Tremor, Hearing abnormality, Increased body weight, Paresthesia, Abnormality of pain sensation, P... ORPHA:97279
D-Bifunctional Protein Deficiency
Decreased nerve conduction velocity, Hypotonia, Neonatal hypotonia, Failure to thrive, Polymicrog... OMIM:261515
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly ORPHA:93274
Lhermitte-Duclos Disease
Enlarged cerebellum, Ataxia, Hydrocephalus ORPHA:65285
Edinburgh Malformation Syndrome
Hydrocephalus, Hypertonia ORPHA:1895
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Seizure, Generalized non-motor (absence) seizure OMIM:617360
Tyrosinemia Type 2
Tremor, Ataxia ORPHA:28378
Hogue-Janssen Syndrome 2
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616362
Aase-Smith Syndrome I
Hydrocephalus, Dandy-Walker malformation OMIM:147800
Oculocerebrocutaneous Syndrome
Ventriculomegaly, Hemiplegia/hemiparesis, Hydrocephalus, Cerebellar hypoplasia, Abnormal cerebell... ORPHA:1647
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Ataxia, Involuntary movements, Inability to walk, Chorea, Hypotonia, Dystonia OMIM:617804
Abetalipoproteinemia
Impaired vibratory sensation, Broad-based gait, Ataxia, Impaired distal proprioception, Babinski ... ORPHA:14
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Irritability, Hypertonia, Dysphagia, Spasticity... OMIM:618367
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Patent ductus arteriosus, Flexion contracture, Recurrent pneumonia, Macrogl... OMIM:617303
Gapo Syndrome
Dysmenorrhea, Optic atrophy, Amenorrhea, Abnormal form of the vertebral bodies, Oligozoospermia, ... ORPHA:2067
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion... OMIM:620369
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Contractures of the large joints, Failure to thrive ORPHA:329178
Alpha-Mannosidosis, Infantile Form
Cerebellar atrophy, Optic disc pallor, Communicating hydrocephalus, Facial hypotonia, Ataxia, Spa... ORPHA:309282
Axial Osteomalacia
Myopathy OMIM:109130
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Chronic Bilirubin Encephalopathy
Cerebral palsy, Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials ORPHA:529799
Glycerol Kinase Deficiency
Myopathy, Small for gestational age, Muscular dystrophy OMIM:307030
Plasminogen Deficiency, Type I
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation, Ventriculomegaly OMIM:217090
Wolfram Syndrome 1
Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Dysphagia OMIM:222300
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Cardiomyopathy, Ab... OMIM:217980
Joubert Syndrome
Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, Tremor, Abnormal form of the vertebr... ORPHA:475
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Poor gross motor coordination, Oligo... ORPHA:330015
Multiple Sulfatase Deficiency
Neonatal hypotonia, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Steinert Myotonic Dystrophy
Handgrip myotonia, Myotonia of the upper limb, Inability to walk, Poor fine motor coordination, M... ORPHA:273
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Myopathy, Aplasia/... ORPHA:1358
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Bilateral tonic-clonic seizure, Aganglionic megacolon, Seizure, Gait disturbance, Myoclon... ORPHA:247262
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Seizure, Spasticity, Myoclonus OMIM:246450
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Failure to thrive, Small for gestational age, Spastic tetraplegia, Hypoto... OMIM:620024
Coach Syndrome 1
Ataxia, Hypotonia, Generalized hypotonia, Dystonia, Oculomotor apraxia, Spasticity OMIM:216360
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:60040
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly OMIM:175700
Medulloblastoma
Ataxia, Cerebellar calcifications, Hydrocephalus, Dysmetria, Progressive cerebellar ataxia, Cereb... ORPHA:616
Developmental And Epileptic Encephalopathy 89
Cerebellar atrophy, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Flexi... OMIM:619124
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Decreased muscle mass, Hand tremor, Dysmetria, Flexion contracture of digit, Infantile muscular h... ORPHA:3041
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus OMIM:601794
Scleromyxedema
Myopathy, Seizure, Dysphagia, Abnormal skeletal muscle morphology ORPHA:167635
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar vermis hypoplasia, Short neck, Tremor, Prominent protruding coccyx, Protruding ear, Th... OMIM:300966
Hyperlysinemia
Neck hypertonia, Failure to thrive, Poor motor coordination, Hyperactivity, Spastic tetraparesis,... ORPHA:2203
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... OMIM:254940
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contracture, Seizur... ORPHA:371364
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Distal muscle weakness, Axial hypotonia, Severe demyelination of the white matter, Delayed myelin... ORPHA:391408
Joubert Syndrome 14
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus... OMIM:614424
Odontochondrodysplasia
Respiratory distress, Patent ductus arteriosus ORPHA:166272
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Abnormality of extrapyramidal motor function, Decerebrate rigidity,... ORPHA:79255
Alg3-Cdg
Hypertonia, Hypotonia, Spastic tetraparesis, Dystonia ORPHA:79321
Alexander Disease
Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Hypotonia, Tetraplegia, EE... ORPHA:58
Immunodeficiency 10
Myopathy OMIM:612783
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Oculomotor apraxia ORPHA:220497
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Small for gestational age, Failure to thrive in infancy, Poor coordination, Abn... OMIM:618891
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Vocal cord paralysis, ... ORPHA:276621
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Aplasia/Hypoplasia of t... ORPHA:3309
Infantile Sialic Acid Storage Disease
Hydrocephalus OMIM:269920
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Optic atrophy, Dysmetria, Dystonia, Polymicrogyria, Intention tremor OMIM:619708
Kinsship Syndrome
Bilateral tonic-clonic seizure, Spastic tetraparesis, Focal-onset seizure, Generalized non-motor ... OMIM:619297
Mercury Poisoning
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Babinski sign, Seizure, Skeletal myopathy, Tip-toe gait, Left ventricular hypertr... ORPHA:746
Dural Sinus Malformation
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Myelopathy, Poor coordination, Hydrocephalu... ORPHA:97339
Intellectual Developmental Disorder, Autosomal Dominant 70
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus OMIM:620157
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Aicardi-Goutieres Syndrome 1
Poor head control, Axial hypotonia, Inability to walk, Abnormality of extrapyramidal motor functi... OMIM:225750
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cerebral palsy, Ataxia, Hydrocephalus, Colpocephaly, Ventriculomegaly OMIM:619833
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect, Respiratory distress OMIM:610536
B4Galt1-Cdg
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation ORPHA:79332
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Spastic tetraplegia, Limb hypertonia OMIM:619909
Autoimmune Hypoparathyroidism
Laryngeal dystonia, Myoclonic spasms, Paresthesia, Hypocalcemic seizures ORPHA:36913
Nephronophthisis 18
Hydrocephalus OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy OMIM:614643
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Chorea, EEG with focal sharp waves, Choreoathetosis, EEG abnormality, Hyperkinetic moveme... ORPHA:522077
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Patent ductus arteriosus, Flexion contracture, Abnormal heart morphology, S... ORPHA:505248
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasia, Oculomotor apraxia, Dandy-Walker malforma... OMIM:617822
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Trisomy 10P
Posteriorly rotated ears, Poor motor coordination, Abnormal auditory evoked potentials, Small for... ORPHA:171929
Kallmann Syndrome
Dyspareunia, Hypoplasia of penis, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, ... ORPHA:478
Ramos-Arroyo Syndrome
Respiratory distress, Patent ductus arteriosus, Severe failure to thrive, Decreased body weight, ... ORPHA:1051
Q Fever
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... ORPHA:781
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Axial hypotonia, Limb dystonia OMIM:620269
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Tremor, Hypotonia, Dysmetria, Truncal ataxia, Dystonia, Left ventricular hypertrophy, CNS... OMIM:220111
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Ataxia, Hypotonia, Dysdiadochokinesis, Peripheral hypomyelination, Generalized hypotonia, Chronic... OMIM:612780
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Ataxia, Aganglionic megacolon, T... ORPHA:220493
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Vici Syndrome
Cerebellar vermis hypoplasia, Myopathy, Seizure, Dysphagia, Left ventricular hypertrophy, Abnorma... OMIM:242840
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive, Hypertonia ORPHA:50810
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus ORPHA:1914
Biotinidase Deficiency
Respiratory distress, Ataxia, Apnea, Spastic paraparesis, Limb muscle weakness, Hyperventilation ORPHA:79241
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Aggressive beh... OMIM:617799
Congenital Enterovirus Infection
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion ORPHA:292
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Neuroblastoma, Susceptibility To, 1
Ataxia, Myoclonus, Horner syndrome OMIM:256700
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Obesity, Choreoathetosis, Dystonia, Failure to thrive, Paroxysmal dyskinesia ORPHA:261197
Combined Oxidative Phosphorylation Deficiency 3
Ataxia, Optic neuropathy, Tremor, Optic atrophy, Hypotonia, Generalized hypotonia, Dystonia, Neon... OMIM:610505
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Hypertonia, Ataxia ORPHA:2720
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Holoprosencephaly 14
Cerebellar atrophy, Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Partial abse... OMIM:619895
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Ataxia, Hydroceph... OMIM:608091
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Bresek Syndrome
Neonatal death, Hydrocephalus ORPHA:85284
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Hydrocephalus, Rhabdomyolysis, Myopathy, Seizure ORPHA:157
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2707
Niemann-Pick Disease, Type C2
Ataxia, Hypotonia, Dystonia, Cataplexy, Spasticity OMIM:607625
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Ataxia, Tremor, Irritability, Emotional lability, Failure to thrive OMIM:201100
Pseudoachondroplasia
Waddling gait, Skeletal myopathy ORPHA:750
Gitelman Syndrome
Ataxia, Paresthesia, Paralysis OMIM:263800
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Purine Nucleoside Phosphorylase Deficiency
Abnormal central motor function, Ataxia, Cerebral palsy, Hypotonia, Hypertonia, Spastic parapares... ORPHA:760
Temple Syndrome
Hydrocephalus ORPHA:254516
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Respiratory distress ORPHA:990
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Axial hypotonia, Dystonia, Generalized hypotonia, Limb hypertonia OMIM:616875
Griscelli Syndrome
Encephalocele, Spasticity, Ataxia, Hydrocephalus ORPHA:381
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Slc39A8-Cdg
Poor head control, Severe muscular hypotonia, Failure to thrive in infancy, Inability to walk, Hy... ORPHA:468699
Mgat2-Cdg
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphol... ORPHA:79329
Thanatophoric Dysplasia
Hydrocephalus, Ventriculomegaly ORPHA:2655
Propionic Acidemia
Failure to thrive, Dystonia, Axial hypotonia, Limb hypertonia OMIM:606054
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Focal-onset seizure, Myopathy OMIM:619743
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis ORPHA:37553
Absence Of The Pulmonary Artery
Orthopnea, Abnormal hemidiaphragm morphology, Cardiomegaly, Nonproductive cough, Dyspnea, Recurre... ORPHA:980
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus ORPHA:2701
Epidermolysis Bullosa Simplex With Pyloric Atresia
Flexion contracture, Muscular dystrophy ORPHA:158684
Aicardi-Goutieres Syndrome 9
Axial hypotonia, Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Weig... OMIM:619487
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Broad-based gait, Short neck, Tremor, Kyphosis, Abnormal earlobe morphology,... ORPHA:85293
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Ethylene Glycol Poisoning
Ataxia, Facial palsy, Slurred speech, Seizure, Addictive alcohol use, Myoclonus ORPHA:31826
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Hearing impairment ORPHA:100924
Immunodeficiency 23
Somatic sensory dysfunction, Ataxia, Myoclonus, Cortical myoclonus OMIM:615816
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Optic disc pallor, Multiple joint contractures, Camptodactyly of finger, Ankl... ORPHA:468631
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Ataxia, Small for gestational age, Hypotonia, Choreoathetosis, Dystonia, Failure to thrive OMIM:615471
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Hypoto... OMIM:614947
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormal ovarian morphology, Conductive hearing impairment, Micropenis, Abnor... ORPHA:95699
Hermansky-Pudlak Syndrome 10
Poor head control, Axial hypotonia, EEG abnormality, Generalized hypotonia, Dystonia OMIM:617050
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hydrocephalus, Myopathy, Cerebellar hypoplasia OMIM:243605
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Dystonia, Hypotonia, Periventricular heterotopia OMIM:614105
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus OMIM:243440
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Failure to thrive, Cerebellar vermis hypoplasia, At... OMIM:212065
Hb Bart'S Hydrops Fetalis
Hydrocephalus ORPHA:163596
Dpagt1-Cdg
EEG with generalized slow activity, Ataxia, Aggressive behavior, Tremor, Abnormal cerebellum morp... ORPHA:86309
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Spinal dysraphism ORPHA:1926
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Hypoplastic sacrum, Posteriorly rotated ears, Oligozoospermia, Clitoral hypoplasia... OMIM:614813
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Fanconi Anemia, Complementation Group R
Chiari type I malformation, Hydrocephalus OMIM:617244
Joubert Syndrome With Oculorenal Defect
Encephalocele, Hydrocephalus, Cerebellar vermis hypoplasia, Ataxia ORPHA:2318
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Cerebellar hypoplasia ORPHA:163966
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:612199
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Arachnoiditis
Hydrocephalus ORPHA:137817
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Choanal Atresia
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... ORPHA:137914
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hydrocephalus, Hypertonia, Dandy-Walker malformation OMIM:612938
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Cerebellar atrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar hypoplasia, Spasticity OMIM:618590
Scorpion Envenomation
Restlessness, Hemifacial spasm, Ataxia, Tremor, Rhabdomyolysis, Seizure, Hyperkinetic movements, ... ORPHA:466677
Carcinoid Syndrome
Myopathy ORPHA:100093
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
Listeriosis
Respiratory distress, Pericarditis, Ataxia, Pneumonia, Tremor, Myocarditis, Rhabdomyolysis, Endoc... ORPHA:533
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Anorexia, Spastic hemiparesis, Seizure, Myoclonus, Spasticity ORPHA:20
Congenital Bile Acid Synthesis Defect Type 4
Tremor, Ataxia ORPHA:79095
Native American Myopathy
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Congenital... ORPHA:168572
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Low-set ears, Failure to... ORPHA:401973
Canavan Disease
Abnormality of visual evoked potentials ORPHA:141
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly OMIM:614576
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Pneumonia, Myocarditis, Tachypnea ORPHA:36234
Lathosterolosis
Meningocele, Seizure, Chiari malformation, Myoclonus, Cerebellar cortical atrophy ORPHA:46059
Xanthinuria, Type I
Myopathy OMIM:278300
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Tremor, Hypotonia, Tip-toe gait, Dystonia OMIM:617557
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Tenorio Syndrome
Hydrocephalus, Cerebral palsy, Ventriculomegaly, Clumsiness OMIM:616260
Filippi Syndrome
Spasticity, Hypotonia, Paraplegia, Limb dystonia ORPHA:3255
Methylcobalamin Deficiency Type Cble
Lower limb hypertonia, Hydrocephalus, Ventriculomegaly ORPHA:2169
Galloway-Mowat Syndrome 1
Axial hypotonia, Ataxia, Small for gestational age, Optic atrophy, Hypotonia, Spastic tetraplegia... OMIM:251300
Kniest Dysplasia
Respiratory distress, Hip contracture, Tracheomalacia OMIM:156550
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Involuntary movements, Olivopontocerebellar hypoplasia, Optic atrophy, S... ORPHA:284339
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Seizure, Neurodegeneration OMIM:620210
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Dandy-Walker malformation OMIM:220210
Acyl-Coa Dehydrogenase 9 Deficiency
Myopathy, EMG: myopathic abnormalities ORPHA:99901
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy, Seizure, Focal impaired awareness seizure ORPHA:90289
Arterial Tortuosity Syndrome
Respiratory distress, Myocarditis, Dyspnea, Dilated cardiomyopathy, Cardiorespiratory arrest, Res... ORPHA:3342
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Noncommunicating hydrocephalus, Clumsiness OMIM:619320
Pituitary Dermoid And Epidermoid Cysts
Abnormal central motor function, Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia, Failure to thrive OMIM:613179
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hydrocephalus OMIM:613330
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Progressive spastic paraparesis, Frequent falls, Lower limb muscle ... ORPHA:79093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve... OMIM:615287
Myopathy, Centronuclear, X-Linked
Hydrocephalus, Dandy-Walker malformation OMIM:310400
Tetrasomy 15Q26
Hydrocephalus, Dandy-Walker malformation OMIM:614846
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus, Facial paralysis OMIM:259710
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Clonus, Spastic tetraplegia, Seizure, Status epilepticus, Myoclonus OMIM:619055
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... ORPHA:263297
Congenital Tracheal Stenosis
Respiratory distress, Ventricular septal defect, Neonatal asphyxia, Dyspnea, Wheezing, Patent duc... ORPHA:141127
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Incoordination, Decreased number of large peripheral myelinated nerve fi... OMIM:223900
Eales Disease
Optic disc pallor, Internuclear ophthalmoplegia, Spastic paraparesis ORPHA:40923
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Mitochondrial Trifunctional Protein Deficiency 1
Myopathy, Rhabdomyolysis OMIM:609015
Temple Syndrome
Hydrocephalus OMIM:616222
Toxic Epidermal Necrolysis
Respiratory distress, Weight loss, Restrictive ventilatory defect, Cough, Abnormal myocardium mor... ORPHA:537
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:620156
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Tremor, Paroxysmal vertigo, Cranial nerve compression, Vocal cord paralysis, ... ORPHA:29072
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Ventriculomegaly OMIM:603387
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Posteriorly rotated ears, Large for gestational age, Tremor, Cupped ear, Spas... OMIM:614080
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Fucosidosis
Hypotonia, Spastic tetraplegia, Dystonia, Hemiplegia, Failure to thrive, Spastic gait, Muscle wea... OMIM:230000
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Dyspnea, Asthma, Dilated cardi... ORPHA:3260
Cocaine Intoxication
Respiratory distress, Involuntary movements, Tremor, Wheezing, Rhabdomyolysis, Tachypnea, Pneumot... ORPHA:90068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Optic atrophy, Cerebellar cyst, Seizure, Muscular dystrophy, Myoclonus, Cerebellar... OMIM:253280
Emanuel Syndrome
Torticollis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly OMIM:609029
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Orthostatic h... ORPHA:43393
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Skeletal muscle atrophy, Flexion contracture, Ab... ORPHA:90324
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus ORPHA:2180
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy OMIM:617713
Sanjad-Sakati Syndrome
Myopathy, Seizure ORPHA:2323
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Tremor, Low-set ears, Failure to thrive, Intention tremor OMIM:614052
Pseudohypoparathyroidism Type 1B
Calcinosis, Paresthesia, Myoclonic spasms, Laryngeal dystonia, Hypocalcemic seizures ORPHA:94089
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Patent ductus arteriosus, Respiratory distress OMIM:300968
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebell... ORPHA:1454
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:466943
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Seizure, Typical absence seizure OMIM:618343
Musculocontractural Ehlers-Danlos Syndrome
Dysesthesia, Arthrogryposis multiplex congenita, Decreased muscle mass, Myopathy ORPHA:2953
Trisomy 1Q
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly ORPHA:261344
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Dandy-Walker malformation ORPHA:459061
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Periodic paralysis OMIM:170390
Lujo Hemorrhagic Fever
Respiratory distress, Resting tremor, Crackles, Myocarditis, Nonproductive cough, Rhinitis ORPHA:319213
Peho Syndrome
Cerebellar atrophy, Hydrocephalus, Ventriculomegaly ORPHA:2836
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:7
Blepharonasofacial Malformation Syndrome
Optic atrophy, Torsion dystonia ORPHA:1252
Odontochondrodysplasia 1
Respiratory distress OMIM:184260
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Involuntary movements, Inability to walk, Unsteady gait, Focal motor seizu... ORPHA:3063
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Abnormality of extrapyramidal motor function, Dystonia ORPHA:79233
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Hypotonia, Proximal muscle weakness, Spastic paraparesis OMIM:619234
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly OMIM:219730
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis OMIM:617022
Gorlin Syndrome
Hydrocephalus ORPHA:377
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Respirat... ORPHA:536467
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus OMIM:300863
Rabin-Pappas Syndrome
Hypoplasia of the pons, Chiari type I malformation, Hydrocephalus, Cerebellar hypoplasia OMIM:620155
Orofaciodigital Syndrome Iii
Myoclonus OMIM:258850
Triploidy
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Gait a... ORPHA:513456
Albers-Schönberg Osteopetrosis
Hydrocephalus ORPHA:53
Fanconi Anemia, Complementation Group B
Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:300514
Thanatophoric Dysplasia, Type I
Neonatal death, Hydrocephalus OMIM:187600
Muenke Syndrome
Hydrocephalus ORPHA:53271
African Trypanosomiasis
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... ORPHA:3385
Pineoblastoma
Paralysis ORPHA:251909
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Meningioma
Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Focal-onset... ORPHA:2495
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Spondylocostal Dysostosis 4, Autosomal Recessive
Chiari type II malformation, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:613686
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Osteopetrosis, Autosomal Recessive 5
Clonus, Hydrocephalus, Spastic tetraplegia, Stillbirth, Hypertonia, Ventriculomegaly, Limb hypert... OMIM:259720
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Emanuel Syndrome
Hydrocephalus, Chiari malformation, Ventriculomegaly, Dandy-Walker malformation ORPHA:96170
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Patent ductus arteriosus, Obesity, Abnormal heart morphology, Patent forame... ORPHA:177907
Methylmalonic Aciduria, Cbla Type
Tremor, Failure to thrive, Respiratory distress OMIM:251100
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Impaired vibratory sensation, Decreased muscle mass, Elbow flexion contracture, Impaired tandem g... ORPHA:1900
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Dyspnea, Dilated cardiomyopathy, Mitral va... ORPHA:2556
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Pleural effusion, Cough, Limb muscle weakness ORPHA:1546
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Facial paralysis OMIM:259700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Pulmonary arterial hypertension, Respiratory failure, Central apnea OMIM:616482
Pgm3-Cdg
Seizure, Ataxia, Myoclonus, Cortical myoclonus ORPHA:443811
Pyruvate Carboxylase Deficiency
Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Tip-toe gait, Generalized hypotonia, Dystonia... ORPHA:3008
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Tremor, Babinski sign, Hypotonia, Hypertonia, Spasticity, Failure to thrive, Muscle weakness OMIM:616539
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydrocephalus OMIM:314390
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... ORPHA:280365
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus ORPHA:2184
Beta-Ureidopropionase Deficiency
Neonatal hypotonia, Hypotonia, Dystonia OMIM:613161
Stormorken Syndrome
Myopathy OMIM:185070
Pseudohypoparathyroidism Type 1C
Calcinosis, Paresthesia, Myoclonic spasms, Laryngeal dystonia, Polyphagia, Hypocalcemic seizures ORPHA:79444
Pseudohypoparathyroidism Type 1A
Calcinosis, Involuntary movements, Choreoathetosis, Paresthesia, Myoclonic spasms, Laryngeal dyst... ORPHA:79443
Lipoid Proteinosis
Dystonia ORPHA:530
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Ventriculomegaly ORPHA:1812
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Optic disc pallor, Ataxia, Inability to walk, Hypotonia, Dystonia, Failure to thrive OMIM:620083
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Pfeiffer Syndrome
Hydrocephalus, Chiari malformation OMIM:101600
Glossopharyngeal Neuralgia
Dysesthesia, Vocal cord paralysis ORPHA:221098
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials ORPHA:2971
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance OMIM:614557
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Choroid plexus cyst, Ventriculomegaly OMIM:617866
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic periportal necrosis OMIM:231680
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:238769
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Dandy-Walker malformation OMIM:612582
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Oculomotor apraxia ORPHA:2072
Acquired Aneurysmal Subarachnoid Hemorrhage
Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate ORPHA:90065
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Respiratory insufficiency OMIM:608022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital contracture, Congenital muscular dystrophy OMIM:236670
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Broad-based gait, Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Seizure, Gait ... ORPHA:268261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial p... ORPHA:37042
Autosomal Dominant Hypocalcemia
Optic atrophy, Paresthesia, Writer's cramp, Cortical myoclonus ORPHA:428
Hydrolethalus
Hydrocephalus, Anencephaly ORPHA:2189
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus, Chiari malformation ORPHA:93259
Monosomy 18P
Generalized dystonia, Hypotonia ORPHA:1598
Eisenmenger Syndrome
Respiratory distress, Ventricular septal defect, Increased pulmonary vascular resistance, Wheezin... ORPHA:97214
Trisomy 17P
Hydrocephalus, Hypertonia ORPHA:261290
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Sensorineural hearing impairment, Hypertonia, Dystonia, Failure to thrive OMIM:617248
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Epileptic spasm, Exaggerated startle response, Broad-based gait, Involuntary m... ORPHA:438213
Mucopolysaccharidosis, Type Ii
Papilledema, Hydrocephalus, Flexion contracture, Macroglossia, Seizure, Neurodegeneration OMIM:309900
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Secundum atrial s... OMIM:616268
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tetraplegia, Seizure, Myoclonus, Brain atrophy, Dystonia OMIM:618278
Sepsis In Premature Infants
Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respi... ORPHA:90051
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Cadds
Dystonia ORPHA:369942
Desmosterolosis
Rigidity, Hydrocephalus, Hypertonia, Spasticity, Ventriculomegaly ORPHA:35107
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly ORPHA:77298
Thanatophoric Dysplasia Type 1
Hydrocephalus, Ventriculomegaly ORPHA:1860
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Seizure, Myopathy ORPHA:109
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Failure to thrive in infancy OMIM:612852
Aicardi-Goutières Syndrome
Myositis, Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Multiple joint contracture... ORPHA:51
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Poor head control, Axial hypotonia, Spastic tetraparesis, Hypotonia, Tetra... OMIM:615846
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Hydrocephalus, Flexion contracture, Myopathy, Seizure, Gait disturbance ORPHA:3042
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia ORPHA:79107
Barth Syndrome
Skeletal myopathy, Gait disturbance OMIM:302060
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Myoclonus ORPHA:1352
Hereditary Xanthinuria
Myopathy ORPHA:3467
Adams-Oliver Syndrome
Hemiparesis, Encephalocele, Hypertonia, Hydrocephalus ORPHA:974
1P36 Deletion Syndrome
Camptodactyly of finger, Hemiplegia/hemiparesis, Polyphagia, Optic atrophy, Myopathy, Seizure, Se... ORPHA:1606
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Renal tubular epi... ORPHA:79404
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Lowry-Maclean Syndrome
Hemiparesis, Hydrocephalus ORPHA:2409
Colchicine Poisoning
Respiratory distress, Myocarditis, Cardiorespiratory arrest ORPHA:31824
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Hyperkinetic movements, Polydipsia, Polyphagia ORPHA:525731
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Epidermal Nevus Syndrome
Rhabdomyosarcoma, Progressive spastic paraparesis, Babinski sign, Weakness of long finger extenso... ORPHA:35125
Congenital Myopathy 17
Diaphragmatic eventration, Distal arthrogryposis, Myopathy OMIM:618975
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Flexion contracture, Camptoda... OMIM:224690
Chromosome 18P Deletion Syndrome
Small for gestational age, Hypotonia, Dystonia OMIM:146390
Gitelman Syndrome
Respiratory distress, Paralysis, Pericardial effusion, Rhabdomyolysis, Failure to thrive ORPHA:358
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:613001
Schinzel-Giedion Syndrome
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia, Vocal cord paralysis, Ab... ORPHA:798
Rubinstein-Taybi Syndrome 1
Respiratory distress, Incoordination, Ventricular septal defect, Small for gestational age, Paten... OMIM:180849
Fg Syndrome Type 1
Abnormal cerebellum morphology, Hydrocephalus, Ventriculomegaly ORPHA:93932
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Hydrocephalus, Tetraplegia, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:257300
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Arthrogryposis Multiplex Congenita 5
Akinesia, Hand tremor, Hypertonia, Generalized hypotonia, Dystonia OMIM:618947
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Pseudotrisomy 13 Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia OMIM:264480
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Generalized non-motor (absence) seizure ORPHA:293978
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Contracture of the distal interphalan... OMIM:114290
Hec Syndrome
Communicating hydrocephalus ORPHA:2119
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Neonatal hypotonia, Optic atrophy, Dystonia ORPHA:457193
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... OMIM:256800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus OMIM:239300
Bohring-Opitz Syndrome
Flexion contracture, Hypotonia, Delayed peripheral myelination, Camptodactyly OMIM:605039
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Occipital meningocele, Ventriculomegaly OMIM:616546
Friedreich Ataxia 2
Impaired vibratory sensation, Incoordination, Ataxia, Babinski sign, Abnormality of peripheral ne... OMIM:601992
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus OMIM:614886
Cole-Carpenter Syndrome 2
Hydrocephalus OMIM:616294
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Ataxia, Hydrocephalus ORPHA:220295
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol... ORPHA:63259
Sialuria
Seizure, Hyperkinetic movements, Attention deficit hyperactivity disorder ORPHA:3166
Acquired Generalized Lipodystrophy
Myopathy, Calf muscle pseudohypertrophy ORPHA:79086
Split Cord Malformation
Paraparesis, Distal lower limb muscle weakness ORPHA:573278
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Hydrocephalus, Dilated third ventricle, Ventriculomegaly ORPHA:500055
Mucopolysaccharidosis Type 2
Decreased nerve conduction velocity, Papilledema, Optic atrophy ORPHA:580
Cutis Laxa, Autosomal Recessive, Type Iib
Hydrocephalus OMIM:612940
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Seizure, Typical absence seizure ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Seizure, Typical absence seizure ORPHA:352665
Neonatal Lupus Erythematosus
Hydrocephalus ORPHA:398124
Apert Syndrome
Hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:87
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress OMIM:151210
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Oculodentodigital Dysplasia
Ataxia, Camptodactyly of finger, Optic atrophy, Spastic paraparesis, Spasticity, Muscle weakness ORPHA:2710
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly ORPHA:244
Monosomy 18Q
Choreoathetosis, Hydrocephalus, Poor coordination, Cerebellar hypoplasia ORPHA:1600
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials ORPHA:314389
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus ORPHA:2969
Lateral Meningocele Syndrome
Chiari type I malformation, Hydrocephalus, Meningocele OMIM:130720
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Ataxia, Spastic paraplegia, Hypertonia, Hypoglycorrhachia ORPHA:168577
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Respiratory distress OMIM:274150
Microform Holoprosencephaly
Seizure, EMG: myopathic abnormalities, Holoprosencephaly ORPHA:280200
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus OMIM:601499
Endocrine-Cerebroosteodysplasia
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Holoprosencephaly, Ventriculomegaly OMIM:612651
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2554
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus OMIM:224400
Holoprosencephaly
Failure to thrive in infancy, Chorea, Optic atrophy, Hypotonia, Abnormality of neuronal migration... ORPHA:2162
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus ORPHA:1834
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Lower limb spasticity, Axial hypotonia, Dystonia, Ataxia, Cerebral palsy, Hypotonia, Spastic tetr... OMIM:619950
Desmosterolosis
Spasticity, Hydrocephalus, Ventriculomegaly OMIM:602398
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Gracile Bone Dysplasia
Hydrocephalus OMIM:602361
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353281
Distal Triplication 15Q
Hydrocephalus, Dandy-Walker malformation ORPHA:314588
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Chiari malformation, Ventriculomegaly OMIM:123790
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly OMIM:612284
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclo... OMIM:620330
Williams Syndrome
Ataxia, Involuntary movements, Atrophy/Degeneration involving the corticospinal tracts, Tremor, D... ORPHA:904
Achondroplasia
Hydrocephalus ORPHA:15
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus OMIM:619951
Multiple Endocrine Neoplasia, Type Iib
Myopathy, Aganglionic megacolon OMIM:162300
Cerebrooculonasal Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:605627
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Hydrocephalus ORPHA:1865
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous genitalia, Female pse... ORPHA:786
Malignant Hyperthermia Of Anesthesia
Necrotizing myopathy, Exercise-induced rhabdomyolysis, Abnormality of masseter muscle, Acute rhab... ORPHA:423
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities ORPHA:2549
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Say-Barber-Miller Syndrome
Babinski sign, Optic atrophy, Elbow flexion contracture, Knee flexion contracture, Ankle clonus, ... ORPHA:3132
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Mirage Syndrome
Hydrocephalus, Paraplegia OMIM:617053
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Chromosome 17P13.1 Deletion Syndrome
Ankle clonus, Hydrocephalus, Spina bifida OMIM:613776
Rodrigues Blindness
Nasal flaring OMIM:268320
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ventricular septal defect, Small for gestational age, Complete atrioventric... ORPHA:508488
Crouzon Syndrome
Hydrocephalus OMIM:123500
Genitopalatocardiac Syndrome
Hydrocephalus ORPHA:2075
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Chiari type I malformation, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Fraser Syndrome 3
Hydrocephalus, Stillbirth OMIM:617667
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus ORPHA:1064
Cystinosis, Nephropathic
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Cerebral atrophy, Myopathy, Dysphagia, Polydi... OMIM:219800
Helsmoortel-Van Der Aa Syndrome
Seizure, Typical absence seizure, Tonic seizure OMIM:615873
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hydrocephalus, Cerebellar vermis hypoplasia, Ventriculomegaly ORPHA:228308
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Seizure, Epileptic spasm, Status epilepticus, Generalized non-motor (absence) seizure ORPHA:2636
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials OMIM:125310
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ... ORPHA:3206
Leptospirosis
Respiratory distress, Pericarditis, Rhabdomyolysis, Cough, Pleural effusion ORPHA:509
Achondroplasia
Respiratory distress, Upper airway obstruction OMIM:100800
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus OMIM:616914
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hypoplasia of the pons, Aqueductal stenosis, Hydrocephalus, Cerebellar hypoplasia, Abnormal denta... OMIM:619512
Adnp Syndrome
Respiratory distress, Aspiration, Hypertonia, Truncal obesity ORPHA:404448
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Contracture of the distal interphalangeal joint of the fingers, Failure to ... ORPHA:83617
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Spondyloepimetaphyseal Dysplasia, Krakow Type
Hydrocephalus, Chiari malformation OMIM:618162
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Patent ductus arteriosus OMIM:618188
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligozoospermia ORPHA:125
Mucopolysaccharidosis Type 3
Ataxia, Hydrocephalus, Abnormal pyramidal sign, Spasticity, Hypertonia, Vocal cord paresis, Ventr... ORPHA:581
Sturge-Weber Syndrome
Hydrocephalus, Chiari malformation ORPHA:3205
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Hydrocephalus, Abnormality of extrapyramidal motor function OMIM:277400
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Cardiofaciocutaneous Syndrome 1
Oculomotor apraxia, Hydrocephalus, Hypertonia OMIM:115150
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Anencephaly ORPHA:1335
Monosomy 9Q22.3
Hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:77301
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Myopathy, Difficulty walking ORPHA:536545
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocephalus, Ventriculomegaly OMIM:613603
Short-Rib Thoracic Dysplasia 12
Neonatal death, Hydrocephalus, Anencephaly, Holoprosencephaly OMIM:269860
Argininemia
Progressive spastic quadriplegia, Frequent falls, Spastic gait, Spastic paraparesis OMIM:207800
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Cerebellar atrophy, Communicating hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:617011
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive, Camptodactyly of finger OMIM:166250
Tetraamelia-Multiple Malformations Syndrome
Hydrocephalus ORPHA:3301
Mucopolysaccharidosis, Type Vii
Diastasis recti, Hydrocephalus, Flexion contracture, Macroglossia, Neurodegeneration OMIM:253220
Apert Syndrome
Chiari type I malformation, Hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly OMIM:101200
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia ORPHA:2166
Otopalatodigital Syndrome Type 2
Encephalocele, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia ORPHA:90652
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials ORPHA:480898
7Q11.23 Microduplication Syndrome
Hydrocephalus, Cerebellar hypoplasia, Dysmetria, Ventriculomegaly ORPHA:96121
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Atrioventricular canal defect, Patent ductus arteriosus OMIM:617088
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Ataxia OMIM:616084
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia OMIM:241080
Icf Syndrome
Communicating hydrocephalus ORPHA:2268
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Aqueductal stenosis, Hydrocephalus, Ventric... OMIM:620305
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus OMIM:207410
Shprintzen-Goldberg Craniosynostosis Syndrome
Chiari type I malformation, Hydrocephalus OMIM:182212
Mucopolysaccharidosis Type 1
Hemiplegia/hemiparesis, Hydrocephalus ORPHA:579
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
15Q Overgrowth Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:314585
Hurler Syndrome
Macroglossia, Hydrocephalus, Flexion contracture, Neurodegeneration OMIM:607014
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly OMIM:313850
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Ventriculomegaly, Olivopontocerebellar hypoplasia ORPHA:457284
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Failure to thrive in infancy, Cardiomegaly, Perica... ORPHA:51608
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Failure to thrive OMIM:617156
Full Nf2-Related Schwannomatosis
Hemiparesis, Abnormal cerebellum morphology, Hydrocephalus, Myelopathy ORPHA:637
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Myopathy OMIM:612541
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Focal-onset seizure, Typical absence seizure, Atonic seizure OMIM:617157
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Abnormal sperm motility, Testicular neoplasm, Precoc... ORPHA:1359
Hypoplasminogenemia
Hydrocephalus, Dandy-Walker malformation ORPHA:722
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hydrocephalus OMIM:616007
Jacobsen Syndrome
Hydrocephalus, Spasticity, Holoprosencephaly OMIM:147791
Marshall-Smith Syndrome
Hydrocephalus, Hypertonia, Cerebellar hypoplasia, Ventriculomegaly OMIM:602535
Aymé-Gripp Syndrome
Chiari type I malformation, Hydrocephalus, Ventriculomegaly ORPHA:1272
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Abnormal autonomic nervous s... ORPHA:94093
Laurin-Sandrow Syndrome
Hydrocephalus ORPHA:2378
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Sensorineural he... ORPHA:353277
Gabriele-De Vries Syndrome
Waddling gait, Facial hypotonia, Small for gestational age, Tremor, Hypotonia, Dystonia ORPHA:506358
Doors Syndrome
Small cerebellar cortex, Bilateral tonic-clonic seizure, Optic atrophy, Focal impaired awareness ... ORPHA:79500
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Somatic sensory dysfunction, Impaired temperature sensation, Distal sensory i... ORPHA:642
Cole-Carpenter Syndrome
Communicating hydrocephalus ORPHA:2050
Raine Syndrome
Neonatal death, Hydrocephalus OMIM:259775
Opitz-Kaveggia Syndrome
Spasticity, Hydrocephalus OMIM:305450
White-Sutton Syndrome
Abnormality of visual evoked potentials OMIM:616364
Semilobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Infantile mu... ORPHA:220386
Alobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Infantile mu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Infantile mu... ORPHA:93926
Lobar Holoprosencephaly
Limb dystonia, Abnormal central motor function, Inability to walk, Oromotor apraxia, Infantile mu... ORPHA:93924
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus OMIM:104350
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus OMIM:244400
Dextrocardia
Hydrocephalus ORPHA:1666
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Generalized non-motor (absence) seizure ORPHA:77293
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Hypotonia, Delayed peripheral myelination ORPHA:364577
Micro Syndrome
Abnormality of visual evoked potentials ORPHA:2510
Tetrasomy 9P
Sacral dimple, Short neck, Cryptorchidism, Abnormal earlobe morphology, Oligozoospermia, Infertil... ORPHA:3310
Osteootohepatoenteric Syndrome
Hydrocephalus OMIM:619377
Orofaciodigital Syndrome Type 1
Tremor, Ataxia, Dystonia ORPHA:2750
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus OMIM:245600
Gaucher Disease, Type Iiic
Hydrocephalus OMIM:231005
Histiocytoid Cardiomyopathy
Hemiplegia, Cerebellar malformation, Hydrocephalus ORPHA:137675
Mohr Syndrome
Hydrocephalus OMIM:252100
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephaly, ... OMIM:249000
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure ORPHA:500150
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Chiari malformation, Ventriculomegaly ORPHA:2462
Carpenter Syndrome 2
Generalized non-motor (absence) seizure OMIM:614976
Acrodysostosis 1 With Or Without Hormone Resistance
Hydrocephalus OMIM:101800
Mend Syndrome
Hydrocephalus, Hypertonia, Dandy-Walker malformation OMIM:300960
Fanconi Anemia, Complementation Group L
Hydrocephalus, Cerebellar hypoplasia OMIM:614083
Cardiofaciocutaneous Syndrome
Hydrocephalus ORPHA:1340
Cousin Syndrome
Hydranencephaly, Hydrocephalus OMIM:260660
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Paresthesia ORPHA:285
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials OMIM:231550
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Cardiac rhabdomyoma ORPHA:805
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Cerebellar atrophy, Hydrocephalus, Babinski sign, Hemiparesis, Tetraparesis, Hemiplegia, Spastici... OMIM:175780
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Gaucher Disease
Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocephalus, Abnormality of extrapyramidal motor functi... ORPHA:355
H Syndrome
Hydrocephalus ORPHA:168569
1Q21.1 Microdeletion Syndrome
Hydrocephalus ORPHA:250989
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Subarterial ven... ORPHA:99646
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Spina bifida, Hydrocephalus, Chiari type I malformation, Ventriculomegaly ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Spina bifida, Hydrocephalus, Chiari type I malformation, Ventriculomegaly ORPHA:363958
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Unilateral vocal cord paralysis ORPHA:324540
Dubowitz Syndrome
Hydrocephalus, Spina bifida occulta ORPHA:235
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Cerebellar hypoplasia, Ventriculomegaly, Gait ataxia ORPHA:457359
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Cerebellar cyst OMIM:311200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Cerebellar hypoplasia ORPHA:163979
Meckel Syndrome
Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Dandy-Walker malformation ORPHA:564
Smith-Lemli-Opitz Syndrome
Cerebellar atrophy, Hydrocephalus, Chiari type I malformation, Colpocephaly, Hypertonia, Holopros... OMIM:270400
Isotretinoin-Like Syndrome
Hydrocephalus ORPHA:2306
Mycophenolate Mofetil Embryopathy
Hydrocephalus ORPHA:268249
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Vocal cord paralysis, Tr... OMIM:164280
Thakker-Donnai Syndrome
Communicating hydrocephalus ORPHA:1780
Sotos Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... ORPHA:821
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Plague
Respiratory distress, Slurred speech, Acute infectious pneumonia, Endocarditis ORPHA:707
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hydrocephalus OMIM:253200
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Colpocephaly OMIM:309801
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Spina bifida occulta OMIM:300373
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Woodhouse-Sakati Syndrome
Choreoathetosis, Dystonia ORPHA:3464
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Restlessness, Ataxia, Aggressive behavior, Flexion cont... OMIM:259050
Van Esch-O'Driscoll Syndrome
Spasticity, Unilateral vocal cord paralysis OMIM:301030
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Respiratory distress ORPHA:480880
Hajdu-Cheney Syndrome
Hydrocephalus, Chiari malformation ORPHA:955
Trisomy 8P
Hydrocephalus, Dandy-Walker malformation ORPHA:264450
Codas Syndrome
Vocal cord paresis OMIM:600373
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Stillbirth, Cerebellar hypoplasia OMIM:208150
Isolated Arrhinia
Respiratory distress ORPHA:1134
Pituitary Deficiency Due To Rathke Cleft Cysts
Hydrocephalus ORPHA:91350
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Renal tubula... ORPHA:95455
Kabuki Syndrome
Hydrocephalus, Ventriculomegaly ORPHA:2322
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus ORPHA:137667
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Dysphagia, Attent... OMIM:619522
Craniopharyngioma
Hydrocephalus ORPHA:54595
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Lateral ventricle dil... OMIM:210710
Costello Syndrome
Chiari type I malformation, Hydrocephalus, Enlarged cerebellum, Ventriculomegaly OMIM:218040
Fanconi Anemia, Complementation Group D2
Hydrocephalus OMIM:227646
Acrofacial Dysostosis 1, Nager Type
Aqueductal stenosis, Hydrocephalus OMIM:154400
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta ORPHA:2369
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hydrocephalus, Cerebellar cortical atrophy OMIM:619321
Fontaine Progeroid Syndrome
Neonatal death, Hydrocephalus, Cerebellar vermis hypoplasia, Cerebellar hypoplasia OMIM:612289
Osteogenesis Imperfecta
Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Tetraparesis, Ventriculomegaly ORPHA:666
Nijmegen Breakage Syndrome
Hyperactivity, Neurodegeneration, Rhabdomyosarcoma OMIM:251260
Autosomal Recessive Malignant Osteopetrosis
Tremor, Hydrocephalus ORPHA:667
Oeis Complex
Myelomeningocele, Chiari malformation, Hydrocephalus OMIM:258040
Fanconi Anemia
Hydrocephalus, Ventriculomegaly, Spina bifida ORPHA:84
22Q11.2 Deletion Syndrome
Hydrocephalus, Meningocele, Spina bifida, Occipital myelomeningocele ORPHA:567
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Focal-onset seizure, Inability to walk, Seizure, Status epilepticus, At... ORPHA:2152
Hajdu-Cheney Syndrome
Hydrocephalus OMIM:102500
Wiedemann-Rautenstrauch Syndrome
Hydrocephalus, Hypertonia, Chiari malformation, Truncal ataxia, Dandy-Walker malformation, Intent... OMIM:264090
Legius Syndrome
Vestibular schwannoma, Hypotonia, Dystonia ORPHA:137605
Wiedemann-Rautenstrauch Syndrome
Ataxia, Action tremor, Tremor, Hydrocephalus, Chiari type I malformation, Hypertonia, Cerebellar ... ORPHA:3455
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Cerebellar vermis hypoplasia, Poor coordination, Limb tremor, Mild f... OMIM:619841
Holoprosencephaly 9
Hydrocephalus, Holoprosencephaly OMIM:610829
Alström Syndrome
Thoracic scoliosis, Hypoplasia of the Leydig cells, Severe sensorineural hearing impairment, Micr... ORPHA:64
Loeys-Dietz Syndrome 1
Hydrocephalus, Chiari malformation OMIM:609192
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Focal-onset seizure, Inability to walk, Seizure, Atypical absence seizure ORPHA:261537
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials ORPHA:79430
Lenz-Majewski Hyperostotic Dwarfism
Hydrocephalus ORPHA:2658
Lymphangioleiomyomatosis
Hydrocephalus ORPHA:538
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus ORPHA:261337
Degcags Syndrome
Vocal cord paralysis OMIM:619488
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Focal-onset seizure, Inability to walk, Seizure, Atypical absence seizure ORPHA:261552
Pmm2-Cdg
Respiratory distress, Pericarditis, Multiple joint contractures, Ataxia, Abnormality of coordinat... ORPHA:79318
Pseudoaminopterin Syndrome
Hydrocephalus ORPHA:221120
Microphthalmia With Limb Anomalies
Hydrocephalus ORPHA:1106
Dermatomyositis
Inflammatory myopathy ORPHA:221
Neurofibromatosis Type 1
Hydrocephalus, Ataxia ORPHA:636
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Hydrocephalus OMIM:219000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis OMIM:614748
Autosomal Recessive Cutis Laxa Type 1
Dystonia ORPHA:90349
Focal Dermal Hypoplasia
Hydrocephalus, Chiari malformation, Spina bifida occulta, Myelomeningocele OMIM:305600
Hydrolethalus Syndrome 1
Stillbirth, Anencephaly, Dandy-Walker malformation, Severe hydrocephalus OMIM:236680
Baller-Gerold Syndrome
Hydrocephalus, Chiari malformation, Spina bifida occulta OMIM:218600
Yunis-Varon Syndrome
Hydrocephalus, Cerebellar hypoplasia ORPHA:3472
Proteus Syndrome
Myofibrillar myopathy, Decreased muscle mass, Seizure ORPHA:744
Tetraamelia Syndrome 1
Hydrocephalus OMIM:273395
Wolf-Hirschhorn Syndrome
Hydrocephalus, Ventriculomegaly OMIM:194190
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydrocephalus, Lower limb dysmetria ORPHA:363700
Coffin-Siris Syndrome 12
Chiari malformation, Enlarged cerebellum, Noncommunicating hydrocephalus OMIM:619325
Loeys-Dietz Syndrome 2
Hydrocephalus, Chiari malformation OMIM:610168
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax ORPHA:3404
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Hydrocephalus, Lateral ventricle dilatation, Neonatal death, Spasticity OMIM:619534
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Flexion contracture, Contractur... OMIM:300166
Williams-Beuren Syndrome
Poor coordination, Vocal cord paralysis, Gait imbalance, Incoordination OMIM:194050
Peters Plus Syndrome
Hydrocephalus, Spina bifida occulta, Ventriculomegaly ORPHA:709
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Lateral ventricle dilatation OMIM:607872
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Peters-Plus Syndrome
Hydrocephalus, Ventriculomegaly OMIM:261540
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Cerebellar vermis hypoplasia OMIM:312870
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Stillbirth, Frontal encephalocele OMIM:268300
Townes-Brocks Syndrome 1
Hydrocephalus, Holoprosencephaly OMIM:107480
Craniofacial Microsomia 1
Occipital encephalocele, Hydrocephalus, Chiari malformation OMIM:164210

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 Scn8a

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 Scn8a.

No publications found that use IMPC mice or data for Scn8a.

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
Scn8atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Scn8aem1(IMPC)Bay Exon Deletion Mice
Scn8atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Scn8atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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