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Gene: Plaa MGI:104810

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

phospholipase A2, activating protein

Synonyms:

D4Ertd618e, Ufd3

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Plaa mutations

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

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

Human diseases associated with Plaa (2 diseases)
Human diseases predicted to be associated with Plaa (1597 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Plaa-Associated Neurodevelopmental Disorder		Exaggerated startle response, Cerebral white matter atrophy, Abnormal cortical gyration, Microcep...	ORPHA:521426
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies		Exaggerated startle response, Abnormal cortical gyration, Rigidity, Kyphosis, Babinski sign, Opti...	OMIM:617527

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

Disease	Matching phenotypes	Source
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Inco...	OMIM:302800
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Lumbar hyperlordosis, Abnormal peripheral nervous system synapti...	ORPHA:353327
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spast...	OMIM:611225
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking	ORPHA:423296
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scoliosis, ...	OMIM:615157
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Optic atrophy, Skeletal muscle hy...	ORPHA:99014
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ...	OMIM:606777
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia, Cerebellar hypoplasia	OMIM:213000
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Microcephaly, Hypoplasia of the po...	OMIM:618276
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb...	OMIM:616053
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady...	ORPHA:101010
Autosomal Recessive Spastic Paraplegia Type 43	Impaired vibratory sensation, Ankle flexion contracture, Babinski sign, Knee flexion contracture,...	ORPHA:320370
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3	Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper limb muscle we...	OMIM:302802
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson...	ORPHA:275872
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myo...	ORPHA:71277
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Optic atrophy, Abnorma...	OMIM:236792
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of...	ORPHA:370980
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal...	ORPHA:363710
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ...	OMIM:213200
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor	OMIM:601238
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Parkinsonism, Dystonia, R...	OMIM:607136
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a...	ORPHA:94122
X-Linked Charcot-Marie-Tooth Disease Type 3	Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct...	ORPHA:101077
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis	OMIM:605388
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb...	OMIM:618369
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal ...	OMIM:607317
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia, Respiratory distress	OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h...	OMIM:615768
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:105550
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Leukoencephalopathy,...	OMIM:611105
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Myasthenic Syndrome, Congenital, 18	Fatigable weakness, Ataxia, Difficulty walking, Knee flexion contracture	OMIM:616330
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Small for gestational age, Reduced cerebral white matter volume, Simplified g...	OMIM:615095
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Microcephaly, Inability to walk, Spastic paraplegia, Optic atrophy, Cerebellar hypoplasia, Perive...	OMIM:618572
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella...	ORPHA:284332
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia...	OMIM:617854
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
X-Linked Non Progressive Cerebellar Ataxia	Cerebellar vermis hypoplasia, Unsteady gait, Babinski sign, Clumsiness, Spastic dysarthria, Cereb...	ORPHA:314978
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Microcephaly, ...	OMIM:611603
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Distal sensory impairment, Lethargy, Difficulty walking, Paralysis	OMIM:613710
Microlissencephaly	Cerebellar atrophy, Thick cerebral cortex, Subcortical heterotopia, Cerebral dysmyelination, Peri...	ORPHA:1083
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor...	OMIM:618876
Spastic Paraplegia 46, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Kyphosis, Babinski sign,...	OMIM:614409
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C...	ORPHA:401820
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai...	ORPHA:521406
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Inability to walk, ...	ORPHA:280210
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis	OMIM:143100
Lissencephaly 1	Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Abnormal cerebral wh...	OMIM:607432
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy	OMIM:615957
Porphyria, Acute Hepatic	Failure to thrive, Respiratory paralysis, Paresthesia, Paralysis	OMIM:612740
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Inability to walk, Cerebellar ataxia associated with quadrupedal gait, Trunca...	OMIM:615268
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
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Tremor, Inabilit...	ORPHA:90117
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, R...	ORPHA:240103
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move...	ORPHA:98810
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Respiratory insuffi...	ORPHA:640
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus	OMIM:616187
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Pontocerebellar Hypoplasia, Type 4	Microcephaly, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Congenital...	OMIM:225753
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim...	ORPHA:101075
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ataxia, Microcephaly, Inability to walk, Cerebellar gliosis, Flexion c...	ORPHA:79243
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
X-Linked Spinocerebellar Ataxia Type 4	Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking	ORPHA:85292
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Microcephaly,...	OMIM:300957
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Microcephaly, Simplified gyral pattern, Hypo...	OMIM:613402
Myasthenic Syndrome, Congenital, 15	Fatigable weakness, Frequent falls, Multiple joint contractures, Difficulty walking	OMIM:616227
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle...	OMIM:616668
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia	OMIM:611694
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Dysplastic corpus callosum, Flexion contracture, ...	OMIM:613162
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Leukoencephalopathy...	OMIM:221820
Spinocerebellar Ataxia 18	Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis...	OMIM:607458
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Leukoencep...	OMIM:618387
Hemimegalencephaly	Focal cortical dysplasia, Optic atrophy, Hemimegalencephaly, Hemiparesis, Gray matter heterotopia...	ORPHA:99802
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Proximal amyotrophy, Distal sensor...	OMIM:604484
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorabl...	ORPHA:240085
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu...	OMIM:607483
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Machado-Joseph Disease	Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par...	OMIM:109150
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio...	OMIM:302500
Roussy-Lévy Syndrome	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired vibratory sensation,...	ORPHA:3115
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Spastic tetraplegia, Thin corpus ...	OMIM:615411
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Ataxia, Spinal muscular atrophy, Optic atrophy, Spastic tetraplegia, Distal a...	OMIM:617207
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ...	OMIM:615048
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Distal lower limb amyotrophy, Corpus callosum atrophy, Babinski sign, Optic a...	OMIM:616680
Spastic Paraplegia 48, Autosomal Recessive	Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Thi...	OMIM:613647
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Pontocerebellar atrophy, Dysdiadochokine...	ORPHA:423275
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si...	OMIM:606693
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal amyotrophy, Distal sensory impairment, Fiber type grouping	OMIM:614369
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Abnormal cer...	OMIM:614877
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d...	ORPHA:309169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Pachygyria, Vertebral fusion, Facial palsy, Hyperlord...	OMIM:606612
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Prolonged miniature endplate currents...	OMIM:603034
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Distal sensory impairment, Difficulty walking, Paralysis	OMIM:605285
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Cerebellar vermis hypoplasia, Limb-girdle muscle weakness, Loss of a...	ORPHA:370968
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,...	OMIM:610185
Childhood-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Waddling g...	ORPHA:171439
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v...	OMIM:616291
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Paralysis, Dystonia	OMIM:300857
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Alpers-Huttenlocher Syndrome	Ataxia, Microcephaly, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic pa...	ORPHA:726
Spastic Paraplegia 5A, Autosomal Recessive	Lower limb spasticity, Postural tremor, Impaired distal proprioception, Abnormal cerebellum morph...	OMIM:270800
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Microcephaly, Babinski sign, Spast...	OMIM:612936
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements...	ORPHA:98805
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ...	ORPHA:276193
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tr...	ORPHA:101078
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ...	OMIM:182980
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,...	OMIM:618090
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Parkinsonism, Action tremor, Rigidity, Babinski sign, Slurred speech, Cerebra...	OMIM:300423
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Abnormal intervertebral disk morphology, Parkinsonism, F...	ORPHA:1320
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Microcephaly, Cortical dysplasia, Abnormality of neuronal migration, Abnormal vertebral m...	OMIM:618709
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ...	ORPHA:99947
X-Linked Progressive Cerebellar Ataxia	Distal lower limb amyotrophy, Babinski sign, Cerebellar vermis atrophy, Unsteady gait, Dysmetria,...	ORPHA:1175
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosi...	ORPHA:496689
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Microcephaly, Periventricular heterotopia, Tetraparesis, Hypoplasia of the corpus callosum, Periv...	OMIM:608097
Spastic Paraparesis-Deafness Syndrome	Ataxia, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Spastic paraparesis	ORPHA:2815
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-...	OMIM:616228
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Respiratory distress, Broad-based gait, Ataxia, Apnea, Spastic tetraparesis, ...	ORPHA:79097
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Hip contracture, Scapular winging, Lower limb spasticity, Broad-based gait, Spinal...	OMIM:615290
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Distal sensory impairment, Sco...	OMIM:617087
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai...	OMIM:618093
Lissencephaly, X-Linked, 1	Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agenesis of corpus callos...	OMIM:300067
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia	OMIM:620270
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ...	OMIM:617225
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Impai...	ORPHA:251282
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Tremor, Flexion contracture, Optic atrophy, Babinski s...	OMIM:609260
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C...	ORPHA:216873
Autosomal Recessive Spastic Paraplegia Type 11	Progressive spasticity, Focal T2 hyperintense basal ganglia lesion, Lower limb muscle weakness, A...	ORPHA:2822
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Upper limb muscle weakness, Choreoathetosis, Hypertonia, Atrophy/Degeneration involv...	ORPHA:225154
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor	OMIM:608029
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem...	ORPHA:454887
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Dystonia, M...	OMIM:616756
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Ataxia, Lower limb muscle weakness, Spastic paraplegia...	OMIM:610357
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Oculogyric crisi...	ORPHA:330050
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig...	OMIM:620158
Myasthenic Syndrome, Congenital, 13	Fatigable weakness, Muscle fiber tubular inclusions, Scoliosis	OMIM:614750
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Babinski sign, Cerebral atrophy, Leukoencephalopath...	OMIM:221770
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
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Type 2 muscle fiber atrophy, Scoliosis, Weakness of facial musculature, Limb muscle...	OMIM:608930
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate currents	OMIM:616321
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ...	ORPHA:137898
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Babinski ...	ORPHA:93952
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga...	OMIM:616127
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Autosomal Recessive Spastic Paraplegia Type 25	Paraparesis, Spastic paraplegia, Cervical spondylosis, Abnormal lumbar spine morphology, Herniati...	ORPHA:101005
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Microcephaly, Neuronal loss in the cerebral co...	ORPHA:168486
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Gray matter heterotopia, Cer...	OMIM:604213
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis	ORPHA:132
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon...	ORPHA:98913
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Spinal Muscular Atrophy, Type Iii	Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel...	OMIM:253400
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Failure to thrive in infancy, Babinski sign, Spastic diplegia, Myoclonus, Increased intra...	OMIM:619065
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Multifocal cerebral white matter abnormalities, Hem...	ORPHA:140989
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy...	ORPHA:101029
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid...	OMIM:614831
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conductio...	OMIM:618404
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Impaired vi...	OMIM:607565
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Ragged-red muscle fiber...	OMIM:616924
Symmetrical Thalamic Calcifications	Cerebral calcification, Ataxia, Microcephaly, Abnormality of neuronal migration, Hypertonia, Spas...	ORPHA:1314
Proximal Myopathy With Extrapyramidal Signs	Abnormal basal ganglia MRI signal intensity, Resting tremor, Ataxia, Involuntary movements, Centr...	ORPHA:401768
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Abnormal cerebellum morphology, Flexio...	OMIM:275900
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Apnea, Periodic paralysis	OMIM:614198
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Optic atrophy, Hypertonia, Dystonia, Lethargy, Failure to thrive	ORPHA:26792
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali...	OMIM:164500
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Falls, Myoclonus, Truncal ata...	OMIM:616230
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ...	OMIM:613608
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Cerebral cortex w...	ORPHA:204
Pontocerebellar Hypoplasia, Type 2A	Microcephaly, Hypoplasia of the pons, Chorea, Optic atrophy, Opisthotonus, Abnormal cerebral whit...	OMIM:277470
Behr Syndrome	Cerebellar atrophy, Periventricular leukomalacia, Ataxia, Tremor, Achilles tendon contracture, Ba...	OMIM:210000
Myopathy And Diabetes Mellitus	Respiratory distress, Impaired vibratory sensation, Inability to walk, Babinski sign, Progressive...	ORPHA:2596
Autosomal Spastic Paraplegia Type 58	Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr...	ORPHA:397946
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ...	OMIM:619028
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot...	OMIM:615362
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M...	OMIM:605809
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Ataxia, Spinal muscular atrophy, Microcephaly, Hypoplasia of the ...	OMIM:607596
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochoki...	OMIM:614487
Developmental And Epileptic Encephalopathy 14	Clonus, Microcephaly, Tetraplegia, Gliosis, Hypoplasia of the corpus callosum, Spasticity, Cerebr...	OMIM:614959
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w...	ORPHA:98
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ...	OMIM:617810
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Inability to walk, Unst...	OMIM:620317
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Myasthenic Syndrome, Congenital, 6, Presynaptic	Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp...	OMIM:254210
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a...	OMIM:613728
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Oro...	ORPHA:300573
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce...	OMIM:617435
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Hand muscle atrophy, Intrinsic hand muscle atrophy, Prolonged miniature endplate currents, Upper ...	OMIM:601462
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Ataxia, Tremor, Basal ganglia calcification, Cerebellar gliosis, Flexion cont...	OMIM:616505
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, ...	ORPHA:313772
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central...	OMIM:254110
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Facial diplegia, Paralysis	OMIM:616286
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Opt...	ORPHA:99013
Cerebrotendinous Xanthomatosis	Abnormal globus pallidus morphology, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnorma...	ORPHA:909
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v...	OMIM:300718
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Diffuse leukoence...	OMIM:169500
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Diaphragmatic paral...	OMIM:614399
Stxbp1-Related Encephalopathy	Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Inability to walk, Spa...	ORPHA:599373
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ...	OMIM:248800
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive sp...	ORPHA:496756
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Un...	OMIM:608099
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab...	OMIM:256600
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait dist...	OMIM:615643
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab...	ORPHA:320391
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Flexion contracture, Scoliosis, Loss of ambulation, Increased variability in mus...	OMIM:300717
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber...	OMIM:617915
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red musc...	ORPHA:254886
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Spasticity	OMIM:617977
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Facial palsy, A...	OMIM:211530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Pachygyria, Achilles tendon contracture, Babinski sign, Elbow flexion contracture, ...	OMIM:608840
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu...	OMIM:617284
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst...	ORPHA:314632
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Broad-based gait, Impaired pain sensation, Decreased nerve conduction velocity, Dyspnea, Impaired...	ORPHA:435387
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
Autosomal Dominant Spastic Paraplegia Type 73	Distal lower limb amyotrophy, Lower limb spasticity, Degeneration of the lateral corticospinal tr...	ORPHA:444099
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Hyperlordosis, Spinal rigidity, Kyphosis, Microcephaly, Proximal amyotroph...	OMIM:617404
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Fatigable weakness, Myopathy, Gait...	ORPHA:424107
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal m...	OMIM:617760
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki...	ORPHA:512260
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske...	OMIM:619733
Tay-Sachs Disease	Skeletal muscle atrophy, Hypointensity of cerebral white matter on MRI, Tremor, Dysmetria, Gliosi...	ORPHA:845
Charcot-Marie-Tooth Disease Type 4A	Impaired distal proprioception, Decreased nerve conduction velocity, Inability to walk, Impaired ...	ORPHA:99948
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Myoclonus, Intractable, Neonatal	Optic disc pallor, Microcephaly, Chorea, Athetosis, Myoclonus, Hypoplasia of the corpus callosum,...	OMIM:617235
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Sciatica, Impaired distal proprioception	ORPHA:231445
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Optic atrophy, ...	OMIM:605259
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Schizencephaly, Spastic tetraparesis, Microcephaly, Pachygyria, Simplified gyral pattern, Abnorma...	OMIM:604317
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia	OMIM:128235
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Dysmetria, Cerebral atrophy, ...	OMIM:618088
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of ...	OMIM:610743
Spinocerebellar Ataxia Type 2	Cerebral white matter atrophy, Abnormal substantia nigra morphology, Postural tremor, Parkinsonis...	ORPHA:98756
Myasthenic Syndrome, Congenital, 23, Presynaptic	Fatigable weakness, Calf muscle hypertrophy, Frequent falls, Agenesis of corpus callosum	OMIM:618197
Episodic Ataxia Type 1	Cerebellar atrophy, Respiratory distress, Poor coordination, Clumsiness, Choreoathetosis, Tip-toe...	ORPHA:37612
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal ...	ORPHA:33445
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal...	OMIM:159950
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens...	OMIM:600363
Autosomal Recessive Ataxia, Beauce Type	Cerebellar atrophy, Skeletal muscle atrophy, Lower limb spasticity, Impaired vibratory sensation,...	ORPHA:88644
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, Dystonia	OMIM:617836
Spastic Paraplegia 7, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Spastic ataxia, Waddling gait, Degeneration of the lat...	OMIM:607259
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Skeletal muscle atrophy, Microcephaly, Ragged-red muscle fibers, Optic atroph...	OMIM:616239
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Microcephaly, Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance...	ORPHA:457240
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Respiratory ins...	ORPHA:2590
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w...	OMIM:616710
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Palatal tremor, Babinski sign, Periventr...	ORPHA:363722
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br...	ORPHA:329284
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Leukoencephalopathy With Vanishing White Matter 1	Cessation of head growth, Optic atrophy, Unsteady gait, Leukoencephalopathy, Gait disturbance, Gl...	OMIM:603896
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai...	OMIM:117360
Hypermanganesemia With Dystonia 2	Tremor, Scissor gait, Oromandibular dystonia, Opisthotonus, Limb dystonia, Parkinsonism, Clumsine...	OMIM:617013
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Inability to walk, S...	ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp...	OMIM:618273
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Pneumothorax, Hypertonia, Hyperkinetic ...	OMIM:619738
Spastic Ataxia 4, Autosomal Recessive	Spastic ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gait ataxia, Lower limb hypertonia, Up...	OMIM:613672
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Microcephaly, Kyphosis, Cortical dysplasia, Impaired propri...	ORPHA:319199
Horner Syndrome, Congenital	Congenital Horner syndrome, Paralysis	OMIM:143000
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Thenar muscle atrophy, Degeneration of th...	OMIM:604360
Charcot-Marie-Tooth Disease Type 1A	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Distal sensor...	ORPHA:101081
Adrenoleukodystrophy	Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Abnormal cerebral w...	OMIM:300100
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Involuntary movements, Tongue fasciculations, Respiratory insufficiency	ORPHA:238329
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, ...	OMIM:162500
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Failure to thrive, Ataxia	OMIM:618951
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Ataxia, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive, Progressive microcep...	OMIM:620007
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Skeletal muscle atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ata...	OMIM:617193
Leigh Syndrome	Ataxia, Optic atrophy, Hepatocellular necrosis, Gliosis, Dystonia, Focal substantia nigra T2 hype...	OMIM:256000
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal...	ORPHA:683
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Cerebral white matter atrophy, Abnormality of the musculatu...	ORPHA:464282
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Kyphoscoliosis, Microcep...	OMIM:214150
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai...	OMIM:615528
Adult Krabbe Disease	Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abnormal medulla oblongata...	ORPHA:206448
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive	OMIM:618201
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
Acute Peripheral Arterial Occlusion	Paresthesia, Impaired distal tactile sensation, Paralysis	ORPHA:90064
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Ataxia, Parkinsonism, Writer's cramp, Involuntary movements, Rig...	ORPHA:98759
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Frequent fa...	ORPHA:353
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Cerebellar vermis hypoplasia, Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ...	ORPHA:453521
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Cerebellar vermis hypoplasia, Microcephaly, Paraparesis, Flexion contractu...	ORPHA:98889
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia, L...	ORPHA:289916
Synaptic Congenital Myasthenic Syndromes	Waddling gait, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Pro...	ORPHA:98915
Arachnoid Cyst	Back pain, Facial palsy, Posterior fossa cyst at the fourth ventricle, Mild malformation of corti...	ORPHA:2356
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe...	OMIM:618138
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Elbow flexion contracture, Simplifi...	OMIM:619470
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor	OMIM:610297
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal rigidity,...	ORPHA:86812
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Paucity of...	OMIM:611890
Muscular Hypertonia, Lethal	Respiratory distress, Hypertonia, Pneumonia	OMIM:254120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S...	OMIM:619566
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis	OMIM:105500
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Broad-based gait, Gait ataxia, Distal sensory impairme...	OMIM:614895
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress, Cerebellar hypoplasia	ORPHA:171703
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Decreased motor nerve conduction velocity, Impaired vibratory sensation, Atax...	OMIM:607250
Atypical Rett Syndrome	Dystonia, Sudden episodic apnea, Involuntary movements, Episodic tachypnea, Impaired pain sensati...	ORPHA:3095
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Microcephaly, Kyphosis, Spastic paraplegia, Paraplegia, Shu...	OMIM:303350
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, ...	OMIM:618237
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive	OMIM:612075
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ...	ORPHA:300605
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Cereb...	OMIM:312080
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy...	ORPHA:139485
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Neonatal asphyxia, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia	ORPHA:306669
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Clonus, Microcephaly, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Abnormal auton...	OMIM:614498
Poliomyelitis	Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,...	ORPHA:2912
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb a...	OMIM:208920
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, Chorea, Slu...	ORPHA:98755
Typical Nemaline Myopathy	Waddling gait, Facial palsy, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, Fl...	ORPHA:171436
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,...	OMIM:128100
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird...	OMIM:620386
Vitamin B12-Unresponsive Methylmalonic Acidemia	Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis, Lethargy	ORPHA:27
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Distal lower limb amyotrophy, Tibia...	ORPHA:101076
Hsd10 Disease	Ataxia, Microcephaly, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral a...	ORPHA:391417
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas...	ORPHA:53351
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Type 1 muscle fiber predominance, Scoli...	OMIM:619042
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ...	ORPHA:2593
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation	OMIM:614018
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni...	OMIM:205100
Congenital Muscular Dystrophy With Cerebellar Involvement	Clonus, Hypoplasia of the pons, Diffuse white matter abnormalities, Abnormal pyramidal sign, Agen...	ORPHA:370959
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata...	OMIM:616204
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g...	ORPHA:254343
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dysplastic corpus ...	ORPHA:2524
Cataract-Ataxia-Deafness Syndrome	Tremor, Decreased nerve conduction velocity, Hypertonia, Ataxia	ORPHA:1368
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Microcephaly, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal si...	ORPHA:500180
Lethal Congenital Contracture Syndrome 8	Neonatal death, Facial diplegia, Vocal cord paralysis, Distal sensory impairment	OMIM:616287
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Perry Syndrome	Hypoventilation, Parkinsonism, Akinesia, Central hypoventilation, Tremor, Rigidity, Respiratory i...	OMIM:168605
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ...	OMIM:613204
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Clonus, Spastic tetraparesis, Microcephaly, Inability to walk, Optic atrophy,...	ORPHA:544469
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Neuronal loss in basal ganglia, Cerebral atrophy, Myopathy, Gliosis, Limb dys...	OMIM:604377
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Pl...	OMIM:230650
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Lissencephaly 5	Cerebellar vermis hypoplasia, Subcortical band heterotopia, Optic atrophy, Spastic paraplegia, Po...	OMIM:615191
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Spasticity, Pachygyria, Agyria	ORPHA:1084
X-Linked Adrenoleukodystrophy	Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare...	ORPHA:43
Gaucher Disease Type 2	Respiratory distress, Dystonia, Cough, Spasticity, Abnormal pattern of respiration	ORPHA:77260
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d...	OMIM:614898
Developmental And Epileptic Encephalopathy 82	Cerebellar vermis hypoplasia, Inability to walk, Spastic tetraplegia, Cerebral atrophy, Hypoplasi...	OMIM:618721
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Fatigable w...	OMIM:616313
Leukoencephalopathy With Calcifications And Cysts	Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl...	ORPHA:542310
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	ORPHA:206594
Myasthenic Syndrome, Congenital, 12	Waddling gait, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Fatigable weakness	OMIM:610542
Parkinsonism With Polyneuropathy	Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac...	OMIM:619279
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme...	OMIM:600224
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens...	OMIM:617633
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Thoracic scoliosis, Periventricular heterotopia, Hypoplasi...	OMIM:616171
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo...	OMIM:300696
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk...	ORPHA:171442
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Abnormal pyramidal sign, Dysmetr...	ORPHA:48431
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto...	OMIM:612438
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Respiratory failure, Ataxia	OMIM:618637
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn...	OMIM:238970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Optic atrophy, Choreoathetosis, Dystonia, Lethargy, Failure to thrive	ORPHA:79312
Charcot-Marie-Tooth Disease And Deafness	Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,...	OMIM:118300
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, Pe...	OMIM:270550
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Skeletal muscle atrophy, Limb joint contracture, Ataxia, Postural tremor, Mic...	OMIM:301072
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,...	OMIM:615491
Epilepsy, Familial Adult Myoclonic, 1	Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex	OMIM:601068
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellula...	OMIM:612016
Spinocerebellar Ataxia 2	Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyotrophy, Myoclonus, Fasc...	OMIM:183090
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
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Impai...	OMIM:607706
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Tremor, Kyphosis, Cortical dysplasia, Simplified gyral pattern, Gai...	OMIM:300354
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp...	ORPHA:240094
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb...	ORPHA:208513
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Dysplastic corpus callosum...	OMIM:619737
Rabies	Vocal cord paresis, Cerebral palsy, Paresthesia	ORPHA:770
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor...	ORPHA:79263
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles...	ORPHA:206559
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Upper limb postural tremor, Kyphoscoliosis, Gait ataxi...	OMIM:180800
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion con...	OMIM:614833
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Fatigua...	ORPHA:171881
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased b...	OMIM:300580
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Inability to walk, Optic atrophy, Abnormal p...	ORPHA:254930
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Lethargy, Gliosis	OMIM:613002
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Enhancement of the C-reflex, Myoclonus	OMIM:615127
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Increased vertebral height, Babinski sign, Abnormal ...	OMIM:248500
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Short neck, Tremor, Flexion contracture, Choreoathetosis, Wrist flexion contracture, Ataxia, Park...	OMIM:300055
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl...	ORPHA:171680
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Encephalomalacia, ...	ORPHA:506
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Obesity, Distal sensory impairment, Sco...	OMIM:618124
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Babinski sign, Abnormal pyramidal sign, Pr...	ORPHA:513436
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Frequent falls, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigid...	ORPHA:75840
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Charcot-Marie-Tooth Disease Type 4D	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Kyphosco...	ORPHA:99950
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Optic atrophy, Ataxia	OMIM:300983
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive	ORPHA:477673
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh...	OMIM:137440
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor	OMIM:606438
X-Linked Centronuclear Myopathy	Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Inability to walk, Fa...	ORPHA:596
Myopathy With Extrapyramidal Signs	Ataxia, Clonus, Short neck, Tremor, Microcephaly, Chorea, Perisylvian polymicrogyria, Optic atrop...	OMIM:615673
Congenital Myopathy 6 With Ophthalmoplegia	Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,...	OMIM:605637
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu...	OMIM:616471
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Decreased motor nerve conduction velocity, Axial dystonia, Failure to thrive in infancy, Short ne...	OMIM:619026
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Striatal T2 hyperintensity, Progres...	ORPHA:289494
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Increased...	OMIM:125250
Neuronal Intranuclear Inclusion Disease	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,...	OMIM:603472
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Inability to walk, Tremor	OMIM:616269
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Cough, A...	OMIM:610978
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:85317
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle...	ORPHA:52430
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,...	OMIM:261640
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Flexion contracture, I...	OMIM:602771
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia...	OMIM:614575
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co...	ORPHA:206443
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Spinocerebellar Ataxia Type 8	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste...	ORPHA:98760
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Increased variability in ...	OMIM:612937
Hereditary Late-Onset Parkinson Disease	Resting tremor, Lewy bodies, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis...	ORPHA:411602
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat...	OMIM:619574
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia...	ORPHA:502423
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Scapular winging, Generalized dystoni...	OMIM:614298
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we...	ORPHA:101085
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var...	ORPHA:1878
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys...	OMIM:607694
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired vibratory sensation, Impaired distal proprioception, Decreased nerve conduction velocity...	ORPHA:101097
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory fa...	OMIM:614299
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor...	OMIM:215470
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,...	OMIM:500013
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ataxia, Tremor, Optic atrophy, Pontocerebellar atrophy, Failure to thrive	OMIM:608799
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus cal...	OMIM:616212
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra...	ORPHA:99750
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Corpus callosum atrophy, Ina...	ORPHA:228360
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Developmental And Epileptic Encephalopathy 71	Gliosis, Simplified gyral pattern	OMIM:618328
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu...	ORPHA:529665
Oromandibular Dystonia	Respiratory distress, Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic...	ORPHA:93958
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Jaberi-Elahi Syndrome	Appendicular spasticity, Dandy-Walker malformation, Broad-based gait, Dystonia, Microcephaly, Tre...	OMIM:617988
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond...	ORPHA:65684
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait d...	ORPHA:508093
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Distal sensory impairment, Gliosis, Abnormality of extrapyramidal motor functio...	OMIM:604218
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bilateral basal ganglia lesions, Lower limb spasticity, Gliosis, Microcephaly	OMIM:615119
Leukodystrophy, Hypomyelinating, 2	Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat...	OMIM:608804
Machado-Joseph Disease Type 3	Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Facial-ling...	ORPHA:276244
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn...	ORPHA:466768
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures...	ORPHA:98863
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia	OMIM:605909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Loss ...	OMIM:253700
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Hypoventilation, Failure to thrive, Decreased motor nerve conduction velocity...	ORPHA:99949
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Flex...	OMIM:609541
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Inability t...	OMIM:617066
Toxin-Mediated Infectious Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat...	ORPHA:230800
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Microcephaly, Babinski sign, Sp...	OMIM:619847
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal...	ORPHA:276241
Myasthenic Syndrome, Congenital, 10	Waddling gait, Proximal amyotrophy, Fatigable weakness, Distal amyotrophy, Weakness of facial mus...	OMIM:254300
Spinocerebellar Ataxia, Autosomal Recessive 31	Posterior atrophy of corpus callosum, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathe...	OMIM:619422
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Microcephaly, Gait apraxia, Optic atrophy, Dysmetria, Leukoenceph...	OMIM:617302
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract...	OMIM:618323
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atro...	OMIM:617710
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular heterotopia, Periventricular cysts, Cerebellar hypoplasia, Hypoplasia of ...	ORPHA:255138
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr...	ORPHA:247234
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Respiratory insufficiency, Myoclonus, ...	ORPHA:97229
Autosomal Recessive Spastic Paraplegia Type 35	Dysmetria, Foot dorsiflexor weakness, Oculomotor apraxia, Cerebellar atrophy, Spastic tetraparesi...	ORPHA:171629
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Eyelid myoclonus	OMIM:616421
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Respiratory distress, Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia,...	ORPHA:254913
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr...	ORPHA:96
Variegate Porphyria	Paralysis	OMIM:176200
Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio...	ORPHA:98853
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ...	OMIM:253601
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait...	OMIM:168601
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Kyphoscoliosis, Microcephaly, Corpus callosum atrophy, Abnormal pyramida...	OMIM:260600
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis	OMIM:300861
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Microcephaly, Tremor, Corpus callosum atrophy, Babinski sign, Spastic pa...	OMIM:616586
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia	ORPHA:796
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Tetraplegia/tetraparesis, Microcephaly, Progressive spastic paraparesis, Babinski sign, Ankle clo...	ORPHA:506353
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Respiratory insuffic...	ORPHA:289560
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive	OMIM:619556
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa...	ORPHA:98855
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Nipah Virus Disease	Tremor, Myoclonus, Respiratory distress, Cough	ORPHA:99825
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Apneic episodes precipitated by illness, fatigue, stress, Chor...	OMIM:312170
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal...	OMIM:300623
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst...	OMIM:619911
Spinocerebellar Ataxia Type 36	Skeletal muscle atrophy, Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, ...	ORPHA:276198
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Chorea, Gliosis, Athetosis, Myoclonus, Scoliosis, Oculomotor apraxia, Cerebellar atrophy, Inabili...	ORPHA:404454
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Leukoencephalopathy, Scoliosi...	OMIM:611390
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Inability to walk, Rhabdomyolysis, Gray...	ORPHA:26791
Neuroferritinopathy	Caudate atrophy, Writer's cramp, Chorea, Focal dystonia, Abnormal caudate nucleus morphology, Par...	ORPHA:157846
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Kyphoscoliosis, Microcephaly, Tremor, Inability to walk, Optic atrophy, Spast...	OMIM:617664
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura...	ORPHA:50251
Spinocerebellar Ataxia With Epilepsy	Cerebral infarct, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar...	ORPHA:254881
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ...	OMIM:603516
Lissencephaly, X-Linked, 2	Lissencephaly, Gliosis, Spasticity, Pachygyria, Agenesis of corpus callosum	OMIM:300215
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Choreoathetosis, Gai...	ORPHA:765
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Abnorma...	OMIM:618321
Glutathionuria	Tremor, Asthma, Dysdiadochokinesis, Action tremor	OMIM:231950
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Broad-based gait, Inability to walk, Vocal cord paraly...	OMIM:615490
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sign, Knee flexion contracture, W...	ORPHA:3208
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Frequent falls, Craniofac...	OMIM:620011
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Babinski sign, Distal amyotrophy, Gait disturbance, Distal lower limb...	OMIM:612020
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Decreased motor nerve conduction velocity, Dystonia, Tremor, Chorea, Impaired...	OMIM:606002
Adducted Thumbs Syndrome	Myelin-dependent gliosis, Cerebral dysmyelination, Microcephaly, Myopathy, Arthrogryposis multipl...	OMIM:201550
Spinal Arachnoiditis	Spastic paraparesis	OMIM:182950
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
Pelizaeus-Merzbacher Disease, Classic Form	Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet...	ORPHA:280219
Japanese Encephalitis	Respiratory distress, Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper ...	ORPHA:79139
Malaria	Respiratory distress, Gait imbalance	ORPHA:673
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,...	ORPHA:99027
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Acute Transverse Myelitis	Impaired vibratory sensation, Back pain, Orthostatic hypotension, Somatic sensory dysfunction, Dy...	ORPHA:139417
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Failure to thrive	OMIM:237310
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea, Abnormal respiratory sys...	ORPHA:803
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski s...	OMIM:252650
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Tachypnea, Weight loss, Lethargy	ORPHA:79242
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Abnormal pattern of respiration, Gait disturbance	ORPHA:29822
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Spinocerebellar Ataxia 34	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis...	OMIM:133190
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Mismatch Repair Cancer Syndrome 4	Glioblastoma multiforme, Gray matter heterotopia, Astrocytoma, Agenesis of corpus callosum	OMIM:619101
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia	OMIM:233910
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Obesity...	ORPHA:459033
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Unste...	ORPHA:442835
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Weight loss, Strid...	ORPHA:142
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata...	OMIM:183086
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxi...	OMIM:614381
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog...	ORPHA:98772
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Paraplegia, Weight loss, Restrictive ventilator...	ORPHA:98897
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac...	OMIM:254090
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,...	ORPHA:101
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in...	ORPHA:264675
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph...	OMIM:618060
Coasy Protein-Associated Neurodegeneration	Parkinsonism, Abnormal globus pallidus morphology, Oromandibular dystonia, Abnormal caudate nucle...	ORPHA:397725
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys...	ORPHA:70594
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Tetanus	Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Abnormal autonomic n...	ORPHA:3299
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo...	OMIM:617675
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Dec...	ORPHA:329478
Pure Mitochondrial Myopathy	Waddling gait, Scapular winging, Lumbar hyperlordosis, Fatigable weakness of bulbar muscles, Quad...	ORPHA:254854
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Apnea, Tremor, Abnormal cerebellum morphology, ...	OMIM:618056
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Scoliosis, Short neck	OMIM:168400
Stt3B-Cdg	Cerebellar atrophy, Failure to thrive, Optic atrophy, Respiratory distress	ORPHA:370924
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var...	OMIM:619790
Primary Non-Essential Cutis Verticis Gyrata	Periventricular leukomalacia, Gliosis, Scoliosis, Microcephaly	ORPHA:357225
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at...	ORPHA:98768
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, Facial palsy, Paralysis	ORPHA:36382
Inherited Creutzfeldt-Jakob Disease	Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Diff...	ORPHA:282166
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Dystonia, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Flexion contractu...	ORPHA:35069
Perry Syndrome	Central hypoventilation, Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor f...	ORPHA:178509
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Cerebellar vermis hypoplasia, Ataxia, Dystonia, ...	ORPHA:357058
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Failure to thrive, Optic atrophy, Respiratory distress	OMIM:615597
Flynn-Aird Syndrome	Skeletal muscle atrophy, Cerebral calcification, Ataxia, Cachexia, Impaired pain sensation, Kypho...	ORPHA:2047
Congenital Myopathy 15	Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ...	OMIM:620161
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu...	OMIM:620249
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Generalized dystonia, Progressive spastic paraparesis, Upper motor neuron dys...	ORPHA:329308
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Microcephaly, ...	OMIM:615084
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Charcot-Marie-Tooth Disease Type 4B2	Reduced vital capacity, Decreased distal sensory nerve action potential, Tremor, Inability to wal...	ORPHA:99956
Familial Acute Necrotizing Encephalopathy	Rigidity, Abnormal putamen morphology, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis...	ORPHA:88619
Bardet-Biedl Syndrome 16	Respiratory distress, Obesity	OMIM:615993
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti...	OMIM:157640
Spastic Paraplegia 9A, Autosomal Dominant	Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof...	OMIM:601162
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Cerebral calcification, Periventricular heterotopia, Rigidity, ...	OMIM:618476
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl...	OMIM:255200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Lethargy, Failure to thrive, Respiratory insufficiency due to muscle weakness	OMIM:613561
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis...	OMIM:606324
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Tremor, R...	OMIM:601104
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B...	ORPHA:52368
Van Den Bosch Syndrome	Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	ORPHA:3417
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Spinal Arteriovenous Metameric Syndrome	Paraparesis, Abnormality of the vertebral column, Kyphoscoliosis	ORPHA:53721
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B...	ORPHA:458803
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Glut1 Deficiency Syndrome 2	Choreoathetosis, Ataxia, Tremor, Dystonia	OMIM:612126
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai...	OMIM:607459
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Unsteady ga...	ORPHA:3041
Combined Oxidative Phosphorylation Deficiency 31	Microcephaly, Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid drople...	OMIM:617228
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity	ORPHA:2429
Pelizaeus-Merzbacher Disease	Ataxia, Failure to thrive in infancy, Cachexia, Microcephaly, Kyphosis, Optic atrophy, Choreoathe...	ORPHA:702
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrogloss...	OMIM:607155
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive	OMIM:263000
Joubert Syndrome	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Abnormality of neuronal migr...	ORPHA:475
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Dystonia, Ataxia, Incoordination, Involuntar...	ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Respiratory distress, Tetraplegia, Opisthotonus, Hypertonia, Pulmonary arteri...	OMIM:619272
Periventricular Nodular Heterotopia 7	Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, E...	OMIM:617201
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Type II lissencephaly, Optic atrophy, Gray matter heterotopia, Abnormal cerebral white matter mor...	ORPHA:352682
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Obesity, Shuffling...	ORPHA:3077
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Appendicular spasticity, Cerebellar vermis hypoplasia, Cerebral palsy, Microcephaly, Dysplastic c...	OMIM:620001
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis, Small for gestational age, Decreased body weight	OMIM:618392
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ...	ORPHA:209335
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni...	OMIM:619725
Aicardi-Goutieres Syndrome 6	Loss of ambulation, Rigidity, Tremor, Dystonia	OMIM:615010
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Periodic paralysis	OMIM:613239
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Obesity, Tetra...	OMIM:616267
Rett Syndrome	Skeletal muscle atrophy, Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Secondary micro...	OMIM:312750
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Lower limb spasticity, Optic neuropathy, Tibialis muscle weakness, Babin...	ORPHA:320375
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t...	OMIM:607876
Sialidosis Type 2	Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture	ORPHA:87876
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Respiratory distress, Ataxia, Tremor, Recurrent pneumonia, Opisthotonus, Chor...	OMIM:616271
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Ataxia, Paraplegia, Lethargy, Failure to thrive	ORPHA:927
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Paraparesis, Dystonia...	OMIM:620358
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Generalized limb mu...	ORPHA:139480
Autosomal Recessive Spastic Paraplegia Type 9B	Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Microcephaly, Corpus callosum atrophy, ...	ORPHA:447760
Maternal Hyperthermia-Induced Birth Defects	Hypertonia, Abnormality of neuronal migration, Microcephaly	ORPHA:2216
Developmental And Epileptic Encephalopathy 30	Respiratory distress	OMIM:616341
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve...	OMIM:218000
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebr...	ORPHA:1192
Secondary Syringomyelia	Back pain, Somatic sensory dysfunction, Paraplegia, Sensory ataxia, Fatigable weakness, Progressi...	ORPHA:99857
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Congenital muscular dystrophy, Gait disturbance	ORPHA:1875
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive	ORPHA:91130
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Head titubation, Kyphosis, Optic atrophy, Dys...	OMIM:619708
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Tremor, Kyphosis, Slurred s...	ORPHA:812
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Cerebral atrophy, Gliosis, Myoclonus,...	OMIM:614946
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive	OMIM:300934
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Postural tremor, Parkinsonism, Ak...	OMIM:609454
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis	ORPHA:505652
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Ataxia, Respiratory failure, Loss of ambulation, Frequent falls	OMIM:620166
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Perching Syndrome	Respiratory distress	OMIM:617055
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Respiratory insufficiency, Hypertonia, Gait dist...	ORPHA:682
Cockayne Syndrome	Skeletal muscle atrophy, Cerebral calcification, Basal ganglia calcification, Congenital contract...	ORPHA:191
Autosomal Dominant Spastic Paraplegia Type 9A	Low back pain, Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Ab...	ORPHA:447753
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Microcephaly, Kyphosis, Inabi...	OMIM:618443
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Cerebellar vermis hypoplasia...	OMIM:618291
Chiari Malformation Type Ii	Ataxia, Opisthotonus, Gray matter heterotopia, Chiari malformation, Limb muscle weakness, Agenesi...	OMIM:207950
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea,...	OMIM:618426
Baralle-Macken Syndrome	Microcephaly, Inability to walk, Kyphosis, Obesity, Dystonia, Spasticity	OMIM:619255
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment	OMIM:607734
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Alg11-Cdg	Cerebral white matter atrophy, Ataxia, Microcephaly, Cerebral atrophy, Opisthotonus, Gray matter ...	ORPHA:280071
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp...	ORPHA:240071
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Tremor, Respiratory insufficiency due to muscle weakness...	OMIM:615512
Infantile Krabbe Disease	Respiratory distress, Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cach...	ORPHA:206436
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Stuve-Wiedemann Syndrome 2	Respiratory distress, Pulmonary arterial hypertension, Stillbirth, Neonatal death	OMIM:619751
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Spastic tetraplegia, Tetraplegia, Hypertonia, Gliosis, Cerebral edema	OMIM:608033
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress, Optic atrophy, Cerebellar hypoplasia	OMIM:615042
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Waddling gait, Dystonia, Ataxia, Hyperlordosis, Tremor, Micro...	OMIM:615356
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno...	ORPHA:97349
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f...	OMIM:255310
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Cerebral atrophy, Camptodactyly	OMIM:618453
Autosomal Recessive Spastic Paraplegia Type 20	Speech apraxia, Skeletal muscle atrophy, Impaired vibratory sensation, Microcephaly, Abnormal cer...	ORPHA:101000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Srd5A3-Cdg	Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Kyphosis, Abnormal sacrum morphology,...	ORPHA:324737
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr...	OMIM:620246
Band Heterotopia	Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Spasticity, ...	OMIM:600348
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Microcephaly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kypho...	OMIM:619092
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Abnormal ...	ORPHA:70595
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Small for gestational age, Microcephaly, Kyphosis, Congenital contracture, Hypert...	ORPHA:352490
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl...	OMIM:602481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Spinal rigidity, Microcephaly, Partial absence of cerebellar vermis, Skelet...	OMIM:613150
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p...	ORPHA:88628
Saccharopinuria	Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia	ORPHA:3124
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast...	OMIM:203700
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Succinic Acidemia	Respiratory distress	OMIM:600335
Farber Disease	Skeletal muscle atrophy, Paraparesis, Flexion contracture, Myoclonus, Spasticity, Failure to thrive	ORPHA:333
Caribbean Parkinsonism	Orthostatic hypotension, Lewy bodies, Weakness due to upper motor neuron dysfunction, Parkinsonis...	ORPHA:97355
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ...	ORPHA:35689
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p...	OMIM:168600
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Facial hypotonia, Involuntary movements, Microcephaly, Chorea, Intrinsic hand...	OMIM:615273
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness, Decreased nerve ...	ORPHA:600
Alternating Hemiplegia Of Childhood	Respiratory distress, Ataxia, Apnea, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyra...	ORPHA:2131
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Leukoencephalopathy With Ataxia	Optic neuropathy, Action tremor, Limb ataxia, Gait ataxia	OMIM:615651
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Leber Congenital Amaurosis	Hemiplegia/hemiparesis, Abnormal optic disc morphology, Abnormality of neuronal migration, Aplasi...	ORPHA:65
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Snakebite Envenomation	Epistaxis, Paralysis, Pseudobulbar paralysis, Respiratory failure, Respiratory paralysis	ORPHA:449285
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Oculodentodigital Dysplasia	Ataxia, Microcephaly, Paraparesis, Basal ganglia calcification, Abnormal cerebral white matter mo...	OMIM:164200
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Spinal rigid...	ORPHA:486815
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spinocerebellar atro...	ORPHA:95433
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal astrocyte morphology, Tremor, Abnormal pyramidal tract morphology, Babinski sign, Spasti...	ORPHA:83629
Foodborne Botulism	Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly...	ORPHA:228371
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Ataxia, Cachexia, Fatigable weakness, Myopathy, Distal arthrogryposis, F...	ORPHA:42
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Abnormal cortical gyration, Patent ductus arter...	OMIM:616867
Walker-Warburg Syndrome	Skeletal muscle atrophy, Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Poly...	ORPHA:899
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migr...	ORPHA:89844
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Encephalomalacia, Decerebrate rigidity, Ataxia, Hy...	ORPHA:354
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeleta...	OMIM:620351
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination	ORPHA:36387
Myelopathy, Htlv-1-Associated	Abnormal pyramidal sign, Spastic paraparesis	OMIM:159580
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia	ORPHA:3454
Cntnap2-Related Developmental And Epileptic Encephalopathy	Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Obesity, Abnormality o...	ORPHA:163681
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Neuropathic spinal arthropathy, Spinal rigidity, Microcephaly, Kyphosis, Ragg...	ORPHA:352447
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso...	OMIM:311510
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Facial palsy, Hypercapnia, Tremor, Reduced forced vital capacity, R...	OMIM:164310
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast...	ORPHA:572798
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai...	OMIM:601152
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter heterotopia, Cerebellar ...	OMIM:300049
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Failure to thrive	OMIM:616974
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Facial hypotonia, Kyphosis, Babinski sign, Retr...	ORPHA:364028
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Small for gestational age, Kyphoscoliosis, Short neck, Microcephaly, Cerebellar...	ORPHA:391408
Moebius Syndrome	Respiratory distress, Poor coordination, Clumsiness, Facial diplegia, Dysdiadochokinesis, Gait di...	OMIM:157900
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Decreased muscle mass, Cerebral dysmyelination, Decreased nerve conduction ve...	OMIM:261515
Ck Syndrome	Hyperlordosis, Microcephaly, Kyphosis, Scoliosis, Pachygyria, Slender build, Polymicrogyria	OMIM:300831
Ataxia-Telangiectasia	Skeletal muscle atrophy, Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive	ORPHA:100
Bilateral Striopallidodentate Calcinosis	Cerebral calcification, Abnormality of neuronal migration, Microcephaly	ORPHA:1980
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Re...	OMIM:220110
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Small for gestational age, Microcephaly, Kyphosis, Hypertonia, Scoliosis, Arthrog...	OMIM:615834
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Cerebel...	OMIM:616900
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age	ORPHA:85288
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations	ORPHA:1143
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia, Horner syndrome	OMIM:141300
Brain Small Vessel Disease 2	Schizencephaly, Subcortical heterotopia, Porencephalic cyst, Spastic tetraplegia, Hemiplegia, Pol...	OMIM:614483
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Ataxia, Microcephaly, Optic atrophy, Hemiparesis, Abnormal cerebral white ...	ORPHA:395
Asparagine Synthetase Deficiency	Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Reduced cerebral white matter volume, Hypo...	OMIM:615574
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Kleefstra Syndrome Due To A Point Mutation	Large for gestational age, Microcephaly, Abnormal cerebral white matter morphology, Gliosis, Cere...	ORPHA:261652
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Respiratory distress, Hypertonia, Spasticity, Failure to thrive	ORPHA:544503
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Microcephaly, Optic atrophy, Abnormality of neuronal migration, Hypertonia, Scoliosis, Aplasia/Hy...	ORPHA:2518
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Thick cerebral cortex, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, L...	ORPHA:352582
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Abnormal periventricular white matter morphology, Increased variability in muscle fiber...	OMIM:618992
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia	ORPHA:330021
Wieacker-Wolff Syndrome	Dystonia, Facial palsy, Short neck, Hyperlordosis, Kyphosis, Microcephaly, Cerebral atrophy, Cong...	OMIM:314580
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi...	ORPHA:119
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation	ORPHA:544254
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis	ORPHA:2598
Igg4-Related Pachymeningitis	Abnormality of the cervical spine, Somatic sensory dysfunction, Low back pain, Paraparesis, Abnor...	ORPHA:449427
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Vertebral compression fracture, Sandwich appearance of vertebral bodies, Tetraparesis	OMIM:602080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Lower limb spasticity, Absent septum pellucidum, Large for gestational age, Shor...	OMIM:300868
Typhoid	Ataxia, Epistaxis, Tremor, Hypertonia, Cough, Lethargy	ORPHA:99745
Joubert Syndrome With Renal Defect	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Scoliosis,...	ORPHA:220497
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus...	OMIM:607426
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera...	ORPHA:1145
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Cerebellar vermis hypoplasia, Inability to walk, Optic atrophy, Gait ataxia	OMIM:619383
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Cerebral white matter atrophy, Abnormal cortical gyration, Microcep...	ORPHA:521426
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr...	OMIM:606070
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter, Hypoplasi...	OMIM:616816
Gaucher Disease, Type Iii	Spastic paraparesis, Ataxia, Myoclonus, Decreased body weight	OMIM:231000
3-Hydroxyisobutyric Aciduria	Congenital intracerebral calcification, Failure to thrive, Abnormality of neuronal migration, Mic...	OMIM:236795
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F...	OMIM:610921
Pelizaeus-Merzbacher Disease In Female Carriers	Lower limb spasticity, Inability to walk, Babinski sign, Gait disturbance, Difficulty walking, Sp...	ORPHA:280229
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s...	OMIM:105210
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Patent ductus arteriosus, Cerebral atrophy, Scoliosis, Thin corpus ...	OMIM:619797
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal basal ganglia MRI signal intensity, Dystonia, Action tremor, Rigidity, Abnormal globus p...	ORPHA:309854
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Microcephaly, Kyphosis, Optic atrophy, Abnormality of neuronal migration...	ORPHA:192
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Patent ductus a...	OMIM:620327
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par...	ORPHA:397744
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Microcephaly, Tremor, Flexion contracture, Scoliosis, Decreased body weight	OMIM:278760
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy...	ORPHA:217260
Joubert Syndrome With Ocular Defect	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Agenesis of corpus callosum,...	ORPHA:220493
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Lethargy, ...	ORPHA:254892
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Back pain, Somatic sensory dysfunction, Low back pain, Dysesthesia,...	ORPHA:79093
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Large for gestational age	ORPHA:45452
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Subependymal Nodular Heterotopia	Focal cortical dysplasia, Partial agenesis of the corpus callosum, Abnormality of neuronal migrat...	ORPHA:101030
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Limb-gird...	ORPHA:98914
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Limb-gird...	ORPHA:590
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypoplasia of the pons, Cortical dysplasia, Abnormal pyramidal sign,...	ORPHA:468631
Alexander Disease	Cerebral calcification, Ataxia, Facial palsy, Clonus, Short neck, Tremor, Hyperlordosis, Chorea, ...	ORPHA:58
Neu-Laxova Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Cerebral calcific...	ORPHA:2671
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner...	OMIM:616840
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Cerebral palsy, Ataxia, Periventricular heterotopia, Microcephaly, Optic atrophy, Colpocephaly, D...	OMIM:619833
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn...	OMIM:146500
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Cranial nerve compression, Babinski sign, Vocal cord pa...	ORPHA:268882
4Q21 Microdeletion Syndrome	Short neck, Tremor, Kyphosis, Cerebellar hypoplasia, Scoliosis, Agenesis of corpus callosum	ORPHA:238750
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Microcephaly, Paraparesis, Paraplegia, Hemiparesis	ORPHA:79124
Borjeson-Forssman-Lehmann Syndrome	Microcephaly, Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal c...	OMIM:301900
Aceruloplasminemia	Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C...	ORPHA:48818
Inhalational Botulism	Dyspnea, Paralysis	ORPHA:254504
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio...	ORPHA:297
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis, Microcephaly	OMIM:300434
Non-Functioning Paraganglioma	Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss	ORPHA:94080
Joubert Syndrome With Oculorenal Defect	Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Abnormality of neuronal migration, A...	ORPHA:2318
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Ataxia, Ragged-red muscle fibers, Rhabdomyolysis, Cerebral atrophy, Gliosis, ...	OMIM:124000
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S...	OMIM:617072
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter...	OMIM:616470
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas...	ORPHA:178148
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Short neck, Abnormal cerebral cortex morphology, Obesity, Dysmetria,...	ORPHA:75857
Tetrasomy 18P	Gait disturbance, Abnormality of neuronal migration, Scoliosis, Microcephaly	ORPHA:3307
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Facial palsy, Short neck, Microcephaly, Kyphosis, Achilles tendon contracture, F...	OMIM:301041
Combined Oxidative Phosphorylation Deficiency 12	Spastic tetraparesis, Dysplastic corpus callosum, Ragged-red muscle fibers, Babinski sign, Leukoe...	OMIM:614924
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Patent ductu...	OMIM:619909
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Ataxia, Tremor, Oculomotor apraxia, Optic disc coloboma, Abnormalit...	ORPHA:1454
Proximal 16P11.2 Microduplication Syndrome	Abnormal basal ganglia MRI signal intensity, Congenital diaphragmatic hernia, Microcephaly, Tremo...	ORPHA:370079
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microcephaly, Knee flexion contracture, Gray matter heterotopia, Camptodactyly, Spasticity, Thin ...	OMIM:619694
Parkinson Disease 21	Bradykinesia, Tremor, Rigidity, Parkinsonism	OMIM:616361
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Small for gestational age, Cerebral calcifi...	OMIM:620024
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Para...	ORPHA:573278
Pick Disease Of Brain	Gliosis	OMIM:172700
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Periodic paralysis	OMIM:188580
Glossopharyngeal Neuralgia	Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Weight loss, Chiari type I malforma...	ORPHA:221098
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Lethargy, Increased body weight	ORPHA:276608
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Failure to thrive, Hypertonia, Cerebellar hypoplasia	ORPHA:50810
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Small for gestational age, Ataxia, Dystonia, Microcephaly, Tremor, ...	OMIM:220111
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age	OMIM:616733
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Apnea, Dyspnea, Chorea, Episodic respiratory distress, Optic atrophy, Gait ataxia, Hypert...	ORPHA:255210
Biotinidase Deficiency	Respiratory distress, Ataxia, Apnea, Optic neuropathy, Optic atrophy, Spastic paraparesis, Lethar...	ORPHA:79241
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Bradypnea, Respiratory failure, Tetrapar...	OMIM:617186
Combined Oxidative Phosphorylation Deficiency 8	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:614096
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertroph...	OMIM:300280
Sjögren-Larsson Syndrome	Microcephaly, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Cerebral Palsy, Spastic Quadriplegic, 3	Microcephaly, Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterot...	OMIM:617008
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Hypoplasia of the pons, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclon...	ORPHA:500144
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar atrophy, Sacral dimple, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Short neck, Tr...	OMIM:300966
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Diffic...	ORPHA:90322
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Abnormal cerebellum morphology, Kinetic tremor	OMIM:190310
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Abnormal corpus callosum morphology, Abnormal cerebral white matter morphology	OMIM:618512
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Ataxia, Apnea, Small for gestational age, Inability to...	OMIM:617799
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Sjogren-Larsson Syndrome	Spasticity, Flexion contracture, Thoracic kyphosis, Spastic paraparesis	OMIM:270200
Micro Syndrome	Cerebellar vermis hypoplasia, Microcephaly, Abnormal cerebellum morphology, Kyphosis, Optic atrop...	ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cerebellar vermis hypoplasia, Cerebral calcification, Muscular dystrophy, Hypoplasia of the corpu...	OMIM:616538
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Hype...	OMIM:252160
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Megalencephaly, Kyphosis, Thick corpus callosum, Kne...	OMIM:603387
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Abnormal cortical gyration, Rigidity, Kyphosis, Babinski sign, Opti...	OMIM:617527
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Fatigable weakness, Scoliosis, Arthrogryposis mu...	OMIM:617143
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Obesity, Scoliosis	ORPHA:276630
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:613752
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Failure to thrive	ORPHA:261304
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy, Failure to thrive, Kyphosis, Scoliosis	OMIM:618234
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Waardenburg Syndrome, Type 4A	Aganglionic megacolon, Ataxia, Spastic paraparesis	OMIM:277580
Thyrotoxic Periodic Paralysis	Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic...	ORPHA:79102
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor...	ORPHA:250972
Carnitine Deficiency, Systemic Primary	Respiratory distress, Lethargy, Failure to thrive	OMIM:212140
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia	Spastic paraparesis, Palatal tremor, Cerebral cortical atrophy, Truncal ataxia	OMIM:113610
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Laryngeal Abductor Paralysis	Stridor, Vocal cord paralysis	OMIM:150260
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Ataxia, Microcephaly, Dysplastic corpus callosum, Gray matter heter...	ORPHA:314679
Developmental And Epileptic Encephalopathy 4	Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia	OMIM:612164
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Cerebral cortex with spongiform changes, Gliosis, Parkinsonism	OMIM:606688
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus, Flexion contracture	OMIM:618658
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Rigidity, Parkinsonism	OMIM:614251
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Glioblastoma	Paralysis	ORPHA:360
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Pleura...	OMIM:254900
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Skeletal muscle atrophy, Dysmetria	OMIM:615578
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial agenesis ...	OMIM:614643
Rett Syndrome, Congenital Variant	Dystonia, Kyphosis, Chorea, Simplified gyral pattern, Athetosis, Scoliosis, Apraxia, Hypoplasia o...	OMIM:613454
Porphyria, Acute Intermittent	Respiratory paralysis, Paresthesia, Paralysis	OMIM:176000
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Secondary microcephaly, Myoclonus, Type 1 muscle fiber predominance, Primary microcephaly, Increa...	OMIM:612949
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Respiratory distress, Pneumothorax, Lethargy, Limb hypertonia	OMIM:620306
Hypomelanosis Of Ito	Microcephaly, Kyphosis, Cerebral atrophy, Gray matter heterotopia, Scoliosis	OMIM:300337
Methylmalonic Aciduria, Cbla Type	Tremor, Lethargy, Failure to thrive, Respiratory distress	OMIM:251100
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Gliosis, Apraxia, Lewy bodie...	OMIM:607485
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Avian Influenza	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:454836
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Neurofibromatosis, Familial Spinal	Paraparesis, Lower limb muscle weakness	OMIM:162210
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer...	OMIM:212065
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Incoordination, Ataxia, Short neck, Macroglossia, Arthrogryposis-like hand anomaly, Spastic parap...	ORPHA:369891
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia	OMIM:618222
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Glutaryl-Coa Dehydrogenase Deficiency	Pallidal degeneration, Dystonia, Poor motor coordination, Ataxia, T2 hypointense basal ganglia, T...	ORPHA:25
Schaaf-Yang Syndrome	Failure to thrive in infancy, Kyphosis, Inability to walk, Flexion contracture, Obesity, Scoliosi...	OMIM:615547
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Waddling gait, Facial hypotonia, Small for gestational age, Tremor,...	ORPHA:506358
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Simplified gyr...	OMIM:619179
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal basal ganglia MRI signal intensity, Skeletal muscle atrophy, Microcephaly, Patent ductus...	ORPHA:17
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly	OMIM:313420
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Kyphosis, Obesity, Hyperlordosis	ORPHA:3085
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Radio-Tartaglia Syndrome	Ataxia, Microcephaly, Tremor, Obesity, Gray matter heterotopia, Gait imbalance, Scoliosis, Agenes...	OMIM:619312
Winchester Syndrome	Kyphosis	OMIM:277950
Desmosterolosis	Abnormal cortical gyration, Absent septum pellucidum, Microcephaly, Rigidity, Pachygyria, Patent ...	ORPHA:35107
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Distal sensory impairment, Stridor, Respiratory ...	OMIM:606071
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Myoclonus, Asp...	ORPHA:314655
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Cerebellar vermis hypoplasia, Facial-lingual fasciculations, Cerebr...	OMIM:617281
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Failure to thrive, Optic atrophy, Cerebellar hypoplasia	ORPHA:329178
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Akinesia, Opisthotonus, Decreased body weight, Neonatal death	OMIM:608013
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Obesit...	OMIM:614947
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni...	OMIM:619334
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Gliosis,...	OMIM:252150
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Ataxia, Tremor, Cessation of head growth, Obesity, Secondary microcephaly, Myoc...	ORPHA:98794
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Kyphosis, Hypertonia, Distal arthrogryposis, Firm muscles, Congenital fing...	OMIM:108145
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski...	OMIM:234200
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Mcdonough Syndrome	Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Cachexia	ORPHA:2471
Rift Valley Fever	Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity	ORPHA:319251
Alg1-Cdg	Cerebellar atrophy, Kyphosis, Cerebral atrophy, Scoliosis, Progressive microcephaly	ORPHA:79327
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Microcephaly, Dysplastic corpus callosum, Flexion contracture, Hypertonia, Camptodactyly, Failure...	OMIM:604273
Microcephalic Primordial Dwarfism, Montreal Type	Microcephaly, Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis	ORPHA:2617
Pheochromocytoma/Paraganglioma Syndrome 2	Vocal cord paralysis	OMIM:601650
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration, Microcephaly	ORPHA:2772
Hall-Riggs Syndrome	Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive	OMIM:234250
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Limb joint contracture, Increased in...	ORPHA:93314
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Broad-based gait, Small for gestational age, Failure to thrive in infancy, Ataxia,...	ORPHA:268261
Acalvaria	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration	ORPHA:945
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Paralysis	ORPHA:83601
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag...	OMIM:609136
Myopathy With Lactic Acidosis, Hereditary	Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif...	OMIM:255125
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus...	OMIM:620138
Emanuel Syndrome	Torticollis, Sacral dimple, Congenital diaphragmatic hernia, Microcephaly, Kyphosis, Patent ductu...	OMIM:609029
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Dysplast...	ORPHA:488627
Gitelman Syndrome	Failure to thrive, Ataxia, Paresthesia, Paralysis	OMIM:263800
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Generalized amyotrophy, Spasticity, Failure t...	OMIM:619423
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Failure to thrive	ORPHA:2707
Scrub Typhus	Tremor, Dyspnea, Restrictive ventilatory defect, Cough, Lethargy	ORPHA:83317
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Overweight, Tachy...	ORPHA:26793
Alkuraya-Kucinskas Syndrome	Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Lissencephaly, Cerebellar hyp...	OMIM:617822
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Pachygyria, Gliosis	OMIM:231680
Young-Onset Parkinson Disease	Tremor, Rigidity, Bradykinesia, Gait imbalance, Abnormal autonomic nervous system physiology, Dys...	ORPHA:2828
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Aplasia/Hypoplas...	ORPHA:2754
Marden-Walker Syndrome	Decreased muscle mass, Short neck, Microcephaly, Kyphosis, Congenital contracture, Cerebellar hyp...	OMIM:248700
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Microcephaly, Short neck, Kyphosis, Failure to thrive	OMIM:608776
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis	ORPHA:1545
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Dandy-Wa...	OMIM:164180
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Broad-based gait, Pain insensitivity, Ataxia, Distal sensory impairment, Pa...	OMIM:256810
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Lethargy, Failure to thrive	OMIM:251000
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Microcephaly, Tremor, Chiari malformation, Scoliosis, Failure to thrive	ORPHA:94063
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Hemiparesis, Chiari malformation, Aplasia/Hypoplasia of the ce...	ORPHA:2481
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Cerebral calcification, Rhabdomyolysis, Abnormality of neuronal mig...	ORPHA:157
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Neonatal inspiratory stridor	ORPHA:684
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Abnormal neuron branching, Failure to thrive, Respiratory insufficiency	ORPHA:367
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con...	OMIM:156530
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve...	OMIM:619040
Edinburgh Malformation Syndrome	Hypertonia, Failure to thrive, Abnormality of neuronal migration	ORPHA:1895
Papillorenal Syndrome	Chiari type I malformation, Optic disc coloboma, Gliosis, Scoliosis	OMIM:120330
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Decreased nerve conduction velocity, Unsteady gait, Knee flexion con...	OMIM:618733
African Trypanosomiasis	Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,...	ORPHA:3385
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Patent ductus arteriosus, Gray matter heterotopia, Lateral ...	OMIM:617397
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Aplasia/Hypoplasia of the cerebellum, Respiratory distress, Abnormal cranial nerve morphology	ORPHA:990
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosis, Microcephaly, ...	ORPHA:85293
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Dysplastic corpus callosum, Patent duct...	OMIM:300967
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Optic nerve hypoplasia, Facial palsy, Camptodactyly of finger, Microcephal...	ORPHA:261349
Congenital Disorder Of Deglycosylation 2	Sacral dimple, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Gray matter...	OMIM:619775
Adrenomyeloneuropathy	Back pain, Cerebral dysmyelination, Atrophy/Degeneration involving the corticospinal tracts, Dyse...	ORPHA:139399
Ataxia-Telangiectasia	Sinusitis, Ataxia, Tremor, Inability to walk, Slurred speech, Bronchiectasis, Choreoathetosis, Pr...	OMIM:208900
O'Sullivan-Mcleod Syndrome	Somatic sensory dysfunction, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Upper l...	ORPHA:99965
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Megalencephaly...	ORPHA:457359
Native American Myopathy	Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Abnormal c...	ORPHA:168572
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased...	OMIM:620278
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Broad-based gait, Papilledema, Cachexia, Paralysis, Spastic par...	ORPHA:2072
Pyruvate Carboxylase Deficiency	Cerebral white matter atrophy, Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Periv...	ORPHA:3008
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Small for gestational age, Recurrent pneumonia, Lethargy, Failure to thrive	OMIM:607143
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Ataxia, Small for gestational age, Tremor, Respiratory insufficiency, Neonatal death, Failure to ...	OMIM:614052
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Megalencephaly, Thick cor...	OMIM:617011
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor, Failure to thrive	OMIM:615595
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ...	ORPHA:2635
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Lethargy, Failure to thrive, Ataxia	OMIM:201100
Even-Plus Syndrome	Short neck, Dysplastic corpus callosum, Vertebral clefting, Coronal cleft vertebrae, Agenesis of ...	OMIM:616854
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Camptodactyly of finger, Microcephaly, Hemiplegia/hemipa...	ORPHA:2065
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Ataxia, Pneumonia, Tremor, Spastic diplegia, Tetraparesis, Failure to thrive	OMIM:613179
3C Syndrome	Short neck, Kyphosis, Optic atrophy, Abnormality of neuronal migration, Hemivertebrae, Scoliosis,...	ORPHA:7
9Q21.13 Microdeletion Syndrome	Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Vertebral segmentation defect...	ORPHA:531151
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Microcephaly, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contract...	OMIM:618493
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Microcephaly	ORPHA:2204
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Lower limb spasticity, Foot joint contracture, Ataxia, Tremo...	ORPHA:90321
Niemann-Pick Disease Type C	Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor...	ORPHA:646
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cerebral white matter atrophy, Microcephaly, Overweight, Kyphosis, Flexion contracture, Gait dist...	ORPHA:500055
15Q24 Microdeletion Syndrome	Small for gestational age, Congenital diaphragmatic hernia, Microcephaly, Kyphosis, Obesity, Scol...	ORPHA:94065
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Agenesis of cerebellar vermis, Absent septum pellucidum, Type II lissencephaly, Cortical dysplasi...	OMIM:615287
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Myopathy, Rhabdomyolysis, Ataxia	ORPHA:713
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Sacral dimple, Microcephaly, Joint contracture of the hand, Gray matter hetero...	OMIM:247200
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Microcephaly, Tremor, Pachygyria, Diffuse white mat...	ORPHA:1934
Kniest Dysplasia	Respiratory distress, Gait disturbance, Tracheomalacia	OMIM:156550
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss	ORPHA:276621
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Zimmermann-Laband Syndrome 2	Macroglossia, Kyphosis, Short neck	OMIM:616455
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large for gestational age	ORPHA:226313
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Large for gestational age, Dysplastic corpus callosum, Periventricular cysts, Thic...	ORPHA:544488
Kleefstra Syndrome 2	Kyphosis, Scoliosis, Microcephaly	OMIM:617768
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Recurrent pneumonia, Spas...	ORPHA:2203
19P13.12 Microdeletion Syndrome	Short neck, Aplasia/Hypoplasia of the cerebellar vermis, Kyphosis, Microcephaly, Obesity, Scolios...	ORPHA:254346
Vici Syndrome	Hypoplasia of the pons, Optic atrophy, Gray matter heterotopia, Cerebellar hypoplasia, Agenesis o...	ORPHA:1493
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Cerebellar hypoplasia	ORPHA:3309
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat...	OMIM:253010
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Cerebral calcification, ...	ORPHA:51
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Pain insensitivity, Microcephaly, Tremor, Kyphosis, Patent ductus arteriosus, S...	OMIM:617061
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Failure to thrive, Small for gestational age, Ankle flexion contracture, Micro...	ORPHA:464311
Fucosidosis	Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking o...	ORPHA:349
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Kyphosis, Platyspondyly, Abnormality of neuronal migration	ORPHA:93274
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Tip-toe gait, Gait disturban...	ORPHA:512
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Scoliosis, Contrac...	OMIM:130060
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ...	OMIM:616866
Purine Nucleoside Phosphorylase Deficiency	Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity	ORPHA:760
Dpagt1-Cdg	Ataxia, Akinesia, Microcephaly, Tremor, Abnormal cerebellum morphology, Inability to walk, Flexio...	ORPHA:86309
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia, Failure to thrive, Foot dorsiflexor weakness	OMIM:169400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Pulmonary embolism, Optic atrophy, Poor fine motor coordination, Pu...	ORPHA:79282
Orofaciodigital Syndrome Xvi	Oculomotor apraxia, Gray matter heterotopia, Ataxia, Inability to walk	OMIM:617563
Mogs-Cdg	Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Optic atrophy,...	ORPHA:79330
Myotonic Dystrophy 1	Respiratory distress, Facial diplegia	OMIM:160900
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Cockayne Syndrome Type 3	Optic disc pallor, Skeletal muscle atrophy, Cerebral white matter atrophy, Kyphosis, Basal gangli...	ORPHA:90324
Odontochondrodysplasia	Respiratory distress	ORPHA:166272
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Lethargy, Failure to thrive	OMIM:251110
Esophageal Atresia	Respiratory distress, Small for gestational age, Failure to thrive in infancy, Laryngotracheomala...	ORPHA:1199
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Kapur-Toriello Syndrome	Failure to thrive, Short neck, Dysplastic corpus callosum, Patent ductus arteriosus, Pachygyria, ...	ORPHA:2328
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Clonus	OMIM:619424
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Pulmonary arterial hyperte...	ORPHA:2396
Holoprosencephaly	Failure to thrive in infancy, Congenital diaphragmatic hernia, Short neck, Microcephaly, Chorea, ...	ORPHA:2162
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Hyperlordosis, Spinal rigidity, Flexion contracture, ...	OMIM:613327
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Lumbar scoliosis,...	OMIM:609128
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Gray matter heterotopia...	ORPHA:2655
Craniofaciofrontodigital Syndrome	Respiratory distress, Large for gestational age, Dyspnea, Hemiparesis, Pulmonary arterial hyperte...	ORPHA:363705
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Microcephaly, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxi...	OMIM:607326
Alpha-Mannosidosis	Macroglossia, Kyphosis, Scoliosis, Short neck	ORPHA:61
Oculodentodigital Dysplasia	Cerebral calcification, Ataxia, Camptodactyly of finger, Optic atrophy, Abnormal form of the vert...	ORPHA:2710
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Thrombotic Thrombocytopenic Purpura, Hereditary	Tremor, Respiratory distress	OMIM:274150
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Kyphosis, Gait ataxia, Secondary microcephaly, Scoliosis, Primary microcephaly, Failure t...	ORPHA:476126
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Lumbar hyperlordosis, Microcephaly, Bilateral camptodactyly, Lumbar kyphosis, Hypoplas...	OMIM:619234
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Inability to walk, Recurrent pneumonia, Optic atrophy	OMIM:617303
Serotonin Syndrome	Clonus, Tremor, Rigidity, Tachypnea, Hypertonia, Myoclonus, Abnormality of the autonomic nervous ...	ORPHA:43116
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Weaver Syndrome	Diastasis recti, Absent septum pellucidum, Kyphosis, Patent ductus arteriosus, Slurred speech, Po...	OMIM:277590
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Patent du...	OMIM:614080
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Microcephaly, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Failure to thrive, Patent ductus arteriosus, Unsteady gait, Aplasia/Hypoplasia...	OMIM:214100
3-Methylglutaconic Aciduria, Type Viii	Apnea, Clonus, Tremor, Hypopnea, Respiratory failure, Hypertonia, Dystonia, Neonatal death, Respi...	OMIM:617248
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Ethylene Glycol Poisoning	Ataxia, Facial palsy, Episodic respiratory distress, Tachypnea, Slurred speech, Myoclonus, Abnorm...	ORPHA:31826
Diastrophic Dysplasia	Cerebral calcification, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies,...	ORPHA:628
Oculoskeletodental Syndrome	Hyperlordosis, Dysplastic corpus callosum, Thoracic kyphosis, Scoliosis, Focal white matter lesions	ORPHA:557003
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Neonatal death	OMIM:300219
Helsmoortel-Van Der Aa Syndrome	Facial palsy, Hyperlordosis, Obesity, Truncal obesity, Lateral ventricle dilatation, Gliosis, Sco...	OMIM:615873
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Pineoblastoma	Lethargy, Papilledema, Paralysis	ORPHA:251909
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agene...	OMIM:619103
Bruck Syndrome 1	Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin...	OMIM:259450
Camurati-Engelmann Disease	Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, ...	ORPHA:1328
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Kyphosis, Inability to walk, Cerebral atrophy, Lateral ventricle dilatation, Scolio...	ORPHA:464738
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis	OMIM:251450
Shashi-Pena Syndrome	Reduced cerebral white matter volume, Kyphosis, Patent ductus arteriosus, Scoliosis, Cervical C2/...	OMIM:617190
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Gliosis, Hypoplasia of the corpus callosum, Camptodactyly, Joint contracture, Fai...	OMIM:617403
Wolf-Hirschhorn Syndrome	Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Microcephaly, Kyphosis, Optic atrophy, Ab...	ORPHA:280
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Agenesis of corpus callosum	OMIM:615433
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Kyphosis, Simplified gyral pattern, Cerebral atrophy, Leuk...	OMIM:619244
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Spasticity, Cerebellar hypoplasia	OMIM:618810
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Degeneration of anterior horn cells	OMIM:271225
Combined Oxidative Phosphorylation Deficiency 3	Ataxia, Optic neuropathy, Tremor, Dyspnea, Optic atrophy, Respiratory insufficiency, Respiratory ...	OMIM:610505
Marshall-Smith Syndrome	Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Absent septum pellucidum, Pachygyria,...	OMIM:602535
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis	ORPHA:37553
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia...	ORPHA:2311
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Intracerebral periventricular calcifications, Microcephaly, Elbow flexion contracture, Increased ...	OMIM:608836
Trisomy 13	Kyphosis, Patent ductus arteriosus, Optic atrophy, Chiari malformation, Scoliosis	ORPHA:3378
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Cerebral calcification, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Leukoencephalopat...	OMIM:612199
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Short neck, Hypertonia, Wrist flexion contracture, Abnormally ossified v...	ORPHA:800
Listeriosis	Respiratory distress, Somatic sensory dysfunction, Ataxia, Pneumonia, Tremor, Hemiparesis, Respir...	ORPHA:533
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Argininemia	Cerebellar atrophy, Progressive spastic quadriplegia, Spastic paraparesis, Frequent falls, Spasti...	OMIM:207800
Pycnodysostosis	Cerebral dysmyelination, Hyperlordosis, Overweight, Kyphosis, Chiari malformation, Spondylolysis,...	ORPHA:763
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Speech apraxia, Ataxia, Kyphoscoliosis, Dysplastic corpus callosum, Patent ductus arteriosus, Chi...	ORPHA:466791
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Inability to w...	ORPHA:365
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebral calcificatio...	ORPHA:228308
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Shoulder girdle muscle atrophy	ORPHA:64755
Trisomy 20P	Incoordination, Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bod...	ORPHA:261318
Odontochondrodysplasia 1	Respiratory distress	OMIM:184260
Foxg1 Syndrome Due To 14Q12 Microdeletion	Microcephaly, Kyphosis, Macroglossia, Scoliosis, Agenesis of corpus callosum	ORPHA:261144
Marden-Walker Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2461
Cockayne Syndrome A	Cerebellar atrophy, Hip contracture, Ataxia, Abnormal auditory evoked potentials, Microcephaly, D...	OMIM:216400
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Short neck, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Cocaine Intoxication	Respiratory distress, Involuntary movements, Tremor, Wheezing, Tachypnea, Pneumothorax, Cough, Hy...	ORPHA:90068
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Restrictive ventilatory defect, Respiratory distress	OMIM:183900
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Dyspnea, Babinski sign, Hypertonia, Spasticity, Failure to thrive, Exertional dyspnea	OMIM:616539
Aicardi Syndrome	Butterfly vertebrae, Cerebellar vermis hypoplasia, Block vertebrae, Microcephaly, Partial agenesi...	OMIM:304050
Epidermal Nevus Syndrome	Thoracolumbar scoliosis, Rhabdomyosarcoma, Progressive spastic paraparesis, Babinski sign, Weakne...	ORPHA:35125
Cono-Spondylar Dysplasia	Short neck, Kyphosis, Partial agenesis of the corpus callosum, Poor coordination, Scoliosis, Fail...	ORPHA:420794
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Kyphosis, Cerebral atrophy, Scoliosis, Hypoplasia of the corpus callosum, Cavum sep...	OMIM:616449
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Small for gestational age, Microcephaly, Kyphosis, Patent ductus...	OMIM:610443
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis	ORPHA:137834
Lujo Hemorrhagic Fever	Respiratory distress, Resting tremor, Crackles, Nonproductive cough, Rhinitis	ORPHA:319213
Bohring-Opitz Syndrome	Sacral dimple, Microcephaly, Flexion contracture, Gray matter heterotopia, Hypoplasia of the corp...	OMIM:605039
Cataracts, Spastic Paraparesis, And Speech Delay	Spastic paraparesis	OMIM:619338
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Generalized dystonia, Kyphosis, Scoliosis	ORPHA:79107
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Short neck, Kyphosis, Obesity, Flexion contracture of toe	ORPHA:3409
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Cerebellar hypoplasia, Tracheomalacia	OMIM:217980
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss	ORPHA:29072
Hurler Syndrome	Cerebral palsy, Camptodactyly of finger, Short neck, Abnormal pyramidal sign, Spinal canal stenos...	ORPHA:93473
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age	OMIM:620135
Spondyloepiphyseal Dysplasia Congenita	Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Microcephaly	ORPHA:77300
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Scoliosis, Microcephaly	ORPHA:2479
Lethal Congenital Contracture Syndrome 10	Torticollis, Thoracic scoliosis, Short neck, Macroglossia, Increased variability in muscle fiber ...	OMIM:617022
Cockayne Syndrome B	Small for gestational age, Cerebellar calcifications, Abnormal auditory evoked potentials, Ataxia...	OMIM:133540
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decrea...	ORPHA:1051
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of neuronal migration	ORPHA:44
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Pleural effusion, Frequent falls, Respiratory distress	OMIM:620369
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Distal Renal Tubular Acidosis	Respiratory insufficiency due to muscle weakness, Failure to thrive, Paralysis	ORPHA:18
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Zttk Syndrome	Kyphosis, Dysplastic corpus callosum, Flexion contracture, Optic atrophy, Hemivertebrae, Patent d...	OMIM:617140
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Microcephaly, Hypoplasia of the odontoid process...	OMIM:223800
Clark-Baraitser syndrome	Kyphosis, Obesity, Scoliosis	OMIM:300602
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Pachyonychia Congenita	Respiratory distress, Failure to thrive	ORPHA:2309
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Van Maldergem Syndrome 1	Sacral dimple, Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, S...	OMIM:601390
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Impaired neutrophil chemotaxis, Microcephaly, Babinski sign, Elbow flexi...	ORPHA:3132
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Large for gestational age	OMIM:618272
Rhizomelic Syndrome, Urbach Type	Kyphosis, Microcephaly, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Myasthenic Syndrome, Congenital, 19	Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity	OMIM:616720
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Obesity, Scoliosis, Short neck	ORPHA:3191
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Inability to walk, Optic atrophy, Stridor, Pulmonary arterial hypertension,...	ORPHA:505248
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Microcephaly, Kyphosis, Short neck, Fused cervical vertebrae	ORPHA:2522
Cowden Syndrome 1	Dysplastic gangliocytoma of the cerebellum, Kyphosis, Hemimegalencephaly, Scoliosis, Intention tr...	OMIM:158350
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cerebral degeneration,...	OMIM:230500
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Sepsis In Premature Infants	Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respi...	ORPHA:90051
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Patent ductus arteriosus, Chiari t...	OMIM:130720
Gitelman Syndrome	Respiratory distress, Failure to thrive, Paresthesia, Paralysis	ORPHA:358
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvatur...	ORPHA:93360
Pfeiffer Syndrome Type 2	Respiratory distress, Chiari malformation, Tracheomalacia	ORPHA:93259
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Microcephaly, Abnormality of neuronal migration, Hypertonia, Agenesis of...	ORPHA:261236
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Failure to thrive in infancy	OMIM:612852
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Spasticity, Hypoplasia of the corpus callosum, Cerebral atrophy	OMIM:618797
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Impaired pain sensation, Microcephaly, Gray matter heterotopia, Macroglossia, Vertebral segmentat...	ORPHA:453499
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Failure to thrive, Small for gestational age	OMIM:260400
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Paresthesia, Inspiratory stridor	ORPHA:100050
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Torticollis, Repeated pneumothoraces, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Ruvalcaba Syndrome	Kyphosis, Scoliosis, Microcephaly	OMIM:180870
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Weakness o...	OMIM:265000
Eales Disease	Multifocal cerebral white matter abnormalities, Optic disc pallor, Ischemic stroke, Spastic parap...	ORPHA:40923
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Small for gestational age, Microcephaly, Kyphosis...	ORPHA:464306
Mgat2-Cdg	Respiratory distress, Failure to thrive, Cerebellar hypoplasia	ORPHA:79329
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Intention tremor, Atax...	OMIM:619475
Pfeiffer Syndrome Type 3	Respiratory distress, Chiari malformation, Tracheomalacia	ORPHA:93260
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Microcephaly, Dysplastic corpus callosum, Intrinsic hand muscle atrophy, Hypoplasia of the corpus...	OMIM:618569
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis	ORPHA:1883
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Congenital muscular torticollis, Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the ...	ORPHA:2916
Bruck Syndrome	Arthrogryposis multiplex congenita, Platyspondyly, Kyphosis, Scoliosis	ORPHA:2771
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Involuntary movements, Kyphoscoliosis, Megalencephaly, Kyphosis, Inability...	ORPHA:3063
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Chiari malformation, Optic atrophy	OMIM:123790
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Distal Triplication 15Q	Large for gestational age, Kyphosis, Patent ductus arteriosus, Flexion contracture, Scoliosis, Ca...	ORPHA:314588
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb...	OMIM:219090
Dysostosis, Stanescu Type	Cerebral calcification, Hyperlordosis, Short neck, Kyphosis, Microcephaly, Macroglossia, Scoliosis	ORPHA:1798
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:300968
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Failure to thrive	ORPHA:583
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon...	OMIM:253220
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Gray matter heterotopia...	ORPHA:1860
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Optic atrophy	ORPHA:1555
Glycogen Storage Disease Vii	Increased muscle glycogen content, Increased variability in muscle fiber diameter	OMIM:232800
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Kyphosis, Chorea, Platyspondyly, A...	ORPHA:1855
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Retrocerebellar cyst, Gray matter hete...	OMIM:603671
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Pleomorphic xanthoastrocytoma, Astrocytoma, Rhabdomyosarcoma, Oligodendr...	OMIM:276300
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Microcephaly, Optic atrophy, Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lis...	OMIM:615219
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Abnormal cranial nerve morphology	ORPHA:1546
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Short neck, Partial agenesis of the corpus callosum, Flexion contra...	OMIM:210710
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Chiari malformation, ...	ORPHA:2789
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Cowden Syndrome	Ataxia, Abnormal cerebellum morphology, Kyphosis, Macroglossia, Scoliosis, Failure to thrive	ORPHA:201
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Somatic sensory dysfunction, Pulmonary embolism, Dyspnea, Asthma, Paresthes...	ORPHA:3260
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Congenital diaphragmatic hernia	ORPHA:2063
Diets-Jongmans Syndrome	Gliosis, Thick corpus callosum, Congenital diaphragmatic hernia	OMIM:618846
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Impaired pain sensation, Microcephaly, Inability to walk, Type 1 muscle f...	ORPHA:453504
Pheochromocytoma/Paraganglioma Syndrome 3	Vocal cord paralysis	OMIM:605373
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Impaired pain sensation, Microcephaly, Inability to walk, Type 1 muscle f...	ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 57	Microcephaly, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-...	OMIM:618050
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Microcephaly, Kyphosis, Hemivertebrae, Cerebral atrophy, Macroglossia, Scoliosis,...	OMIM:301040
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,...	OMIM:616503
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Periventricular heterotopia, Kyphosis, Colpocephaly, Hypoplasia of the co...	ORPHA:261250
Harrod Syndrome	Microcephaly, Kyphosis, Scoliosis, Failure to thrive, Cerebral cortical atrophy	ORPHA:2115
Opitz-Kaveggia Syndrome	Sacral dimple, Multiple joint contractures, Lumbar hyperlordosis, Short neck, Partial agenesis of...	OMIM:305450
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Lethargy, Failure to thrive	OMIM:617156
Acth-Independent Macronodular Adrenal Hyperplasia	Truncal obesity, Kyphosis, Skeletal muscle atrophy	OMIM:219080
Thanatophoric Dysplasia, Type I	Short neck, Gray matter heterotopia, Platyspondyly, Temporal lobe dysplasia, Severe platyspondyly	OMIM:187600
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We...	ORPHA:31204
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Prader-Willi Syndrome	Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Poor gros...	OMIM:176270
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ...	ORPHA:15
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Failure to thrive in infancy, Optic nerve hypoplasia, Kyphoscoliosis, Dyspl...	ORPHA:500150
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Aganglionic megacolon, Obesity	ORPHA:261222
Magel2-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Kyphosis, Flexion contracture, Increased body weight, Abdominal o...	ORPHA:398069
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Hypoplasia of the corpus callosum, ...	ORPHA:401973
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Mic...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Mic...	ORPHA:363958
Q Fever	Respiratory distress, Pneumonia, Weight loss, Cough, Pleural effusion	ORPHA:781
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Optic atrophy, Lower limb hypertonia, Gait i...	OMIM:616268
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Tachypnea, Pneumonia	ORPHA:36234
3M Syndrome	Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Microphthalmia, Lenz Type	Camptodactyly of finger, Hyperlordosis, Microcephaly, Kyphosis, Optic disc coloboma, Aplasia/Hypo...	ORPHA:568
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Camptodactyly of finger, Kyphosis, Scol...	ORPHA:2215
Atelis Syndrome 2	Sacral dimple, Microcephaly, Kyphosis, Patent ductus arteriosus, Dysmetria	OMIM:620185
Scheie Syndrome	Abnormal nerve conduction velocity, Cerebral palsy, Spastic paraparesis	ORPHA:93474
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Sacral dimple, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy...	ORPHA:2211
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial pneumonitis	ORPHA:37042
Hurler-Scheie Syndrome	Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interphalangeal joint o...	OMIM:607015
Mucopolysaccharidosis Type 3	Vocal cord paresis, Ataxia, Abnormal pyramidal sign, Upper airway obstruction, Optic atrophy, Hyp...	ORPHA:581
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Joint contracture, Scoliosis	OMIM:615381
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Op...	OMIM:243910
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Microcephaly	ORPHA:3121
Schinzel-Giedion Syndrome	Respiratory distress, Failure to thrive in infancy, Aganglionic megacolon, Recurrent pneumonia, V...	ORPHA:798
Pheochromocytoma/Paraganglioma Syndrome 1	Vocal cord paralysis	OMIM:168000
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Kyphoscoliosis, Dysplastic corpus callosum, Gray matter heterotopia, Co...	OMIM:618820
Trisomy 9P	Sacral dimple, Microcephaly, Short neck, Kyphosis, Scoliosis	ORPHA:236
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Monosomy 9Q22.3	Rhabdomyosarcoma, Short neck, Large for gestational age, Kyphosis, Abnormality of the vertebral c...	ORPHA:77301
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest	ORPHA:3342
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Glioma, Rhabdomyosarcoma, Cachexia, Short neck, Microcephaly, Abnormalit...	ORPHA:647
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Weight loss, Cough	ORPHA:537
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Adnp Syndrome	Respiratory distress, Aspiration, Hypertonia, Truncal obesity	ORPHA:404448
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive	OMIM:617602
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro...	OMIM:619194
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis, Congenital diaphragmatic hernia, Microcephaly	ORPHA:2075
Wiedemann-Rautenstrauch Syndrome	Tremor, Chiari type I malformation, Hypoplastic vertebral bodies, Hypertonia, Agenesis of corpus ...	ORPHA:3455
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion...	ORPHA:340
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Microcephaly, Myopathy, Gray matter heterotopia, Le...	OMIM:242840
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression	OMIM:259730
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease	OMIM:613848
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Rodrigues Blindness	Nasal flaring	OMIM:268320
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Holoprosencephaly 14	Cerebellar atrophy, Absent septum pellucidum, Periventricular heterotopia, Microcephaly, Partial ...	OMIM:619895
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Achondroplasia	Respiratory distress, Upper airway obstruction	OMIM:100800
Cardiofacioneurodevelopmental Syndrome	Kyphosis, Microcephaly, Cerebellar vermis hypoplasia, Camptodactyly	OMIM:619123
Koolen-De Vries Syndrome	Vertebral fusion, Microcephaly, Kyphosis, Aplasia/Hypoplasia of the corpus callosum, Vertebral se...	ORPHA:96169
Cowden Syndrome 5	Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Meier-Gorlin Syndrome 1	Respiratory distress, Emphysema, Failure to thrive, Small for gestational age	OMIM:224690
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon	ORPHA:210122
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Obesity	ORPHA:177907
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Van Maldergem Syndrome 2	Sacral dimple, Subcortical band heterotopia, Gray matter heterotopia, Scoliosis, Hypoplasia of th...	OMIM:615546
Mucopolysaccharidosis, Type Ii	Papilledema, Short neck, Kyphosis, Flexion contracture, Macroglossia	OMIM:309900
Cowden Syndrome 6	Kyphosis, Scoliosis, Intention tremor	OMIM:615109
1P36 Deletion Syndrome	Camptodactyly of finger, Microcephaly, Hemiplegia/hemiparesis, Kyphosis, Patent ductus arteriosus...	ORPHA:1606
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Congenital diaphragmatic hernia, Short neck, Microcephaly, Kyphosis, Paten...	ORPHA:818
Tyrosinemia, Type I	Failure to thrive, Periodic paralysis	OMIM:276700
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bilateral vocal cord paresis, Neonatal respiratory distress, Apnea, Stridor, Aspiration	OMIM:614653
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2554
Osteogenesis Imperfecta	Somatic sensory dysfunction, Small for gestational age, Ataxia, Cervical kyphosis, Kyphosis, Flex...	ORPHA:666
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Macroglossia, Bico...	OMIM:607014
Noonan Syndrome 14	Kyphosis, Scapular winging, Lateral ventricle dilatation, Short neck	OMIM:619745
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Rubinstein-Taybi Syndrome 1	Respiratory distress, Incoordination, Small for gestational age, Poor coordination, Unsteady gait...	OMIM:180849
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis, Microcephaly	ORPHA:261190
Cohen Syndrome	Failure to thrive in infancy, Microcephaly, Kyphosis, Optic atrophy, Obesity, Scoliosis	ORPHA:193
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia, Abnormal autonomic ner...	ORPHA:3206
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Kyphosis, Scoliosis, Cachexia	ORPHA:1969
Multiple Endocrine Neoplasia, Type Iib	Aganglionic megacolon, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Scoliosis	OMIM:162300
Glycogen Storage Disease Xii	Myopathy, Short neck, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Short neck, Microcephaly, Kyphosis, Optic disc coloboma, Vertebral segme...	ORPHA:251014
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc...	OMIM:114290
Holt-Oram Syndrome	Kyphosis, Patent ductus arteriosus, Scoliosis	ORPHA:392
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Poor coordination, Nasal flaring, Obesity	ORPHA:466943
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ...	ORPHA:79404
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Patent ductus arteriosus, Camptodactyly	ORPHA:363444
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis, Microcephaly	ORPHA:1005
Tsh-Secreting Pituitary Adenoma	Tremor, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Lenz-Majewski Hyperostotic Dwarfism	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Elbow flexion contracture, Hemiverte...	OMIM:151050
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ...	ORPHA:3042
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Camptodactyly of finger, Scoliosis	OMIM:619951
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Periventricular heterotopia, Microcephal...	OMIM:612289
Periventricular Nodular Heterotopia 9	Broad-based gait, Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periv...	OMIM:618918
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Mucolipidosis Type Ii	Hip contracture, Diastasis recti, Kyphosis, Inability to walk, Knee flexion contracture, Weight l...	ORPHA:576
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Williams Syndrome	Tremor, Dysmetria, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Spina bi...	ORPHA:904
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Flexion contracture, Large basal ganglia, Chiari type I malformatio...	ORPHA:261537
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosi...	OMIM:143095
Osteoglophonic Dysplasia	Respiratory distress, Failure to thrive	OMIM:166250
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Camptodactyly of finger, Absent septum pellucidum, Microcephaly, Kyphosis,...	ORPHA:2273
Stickler Syndrome	Skeletal muscle atrophy, Cachexia, Hemiplegia/hemiparesis, Kyphosis, Spinal canal stenosis, Abnor...	ORPHA:828
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea	OMIM:261740
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Microphthalmia, Syndromic 2	Microcephaly, Patent ductus arteriosus, Flexion contracture, Scoliosis, Decreased body weight, Hy...	OMIM:300166
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Patent ductus arteriosus, Chiari malforma...	ORPHA:955
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Periventricular heterotopia, Microcephaly, Partial agenesis of the ...	OMIM:615948
Alstrom Syndrome	Truncal obesity, Kyphosis, Scoliosis	OMIM:203800
Orofaciodigital Syndrome I	Abnormal cortical gyration, Microcephaly, Porencephalic cyst, Cerebral atrophy, Gray matter heter...	OMIM:311200
Coffin-Siris Syndrome 1	Sacral dimple, Congenital diaphragmatic hernia, Microcephaly, Kyphosis, Partial agenesis of the c...	OMIM:135900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Flexion contracture, Large basal ganglia, Chiari type I malformatio...	ORPHA:261552
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity	OMIM:608624
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Mend Syndrome	Sacral dimple, Kyphosis, Hypertonia, Failure to thrive, Dandy-Walker malformation	OMIM:300960
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Failure to thrive, Cerebellar hypoplasia	OMIM:306955
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Doors Syndrome	Respiratory distress, Small cerebellar cortex, Optic atrophy, Myoclonus, Aspiration pneumonia, Da...	ORPHA:79500
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2556
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Impaired pain sensation, Scoliosis, Decreased body weight	OMIM:619005
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Dilated fourth ventricle, Respiratory distress, Cerebellar vermis hypoplasia, Cerebellar hypoplas...	ORPHA:480880
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Pigmented Nodular Adrenocortical Disease, Primary, 2	Truncal obesity, Kyphosis	OMIM:610475
Aspartylglucosaminuria	Microcephaly, Kyphosis, Spasticity, Cerebral atrophy, Macroglossia, Platyspondyly, Spondylolysis,...	OMIM:208400
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis	ORPHA:536532
Pseudoxanthoma Elasticum, Forme Fruste	Calcification of falx cerebri, Kyphosis, Scoliosis	OMIM:177850
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Contracture of the proximal interp...	OMIM:618223
Plague	Respiratory distress, Unsteady gait, Slurred speech, Acute infectious pneumonia	ORPHA:707
Degcags Syndrome	Small for gestational age, Pneumonia, Asthma, Vocal cord paralysis, Rhinitis, Tracheomalacia, Pul...	OMIM:619488
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Scapular winging	OMIM:616914
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Van Esch-O'Driscoll Syndrome	Cerebellar atrophy, Spasticity, Unilateral vocal cord paralysis	OMIM:301030
Classic Homocystinuria	Hemiplegia/hemiparesis, Kyphosis, Optic atrophy, Scoliosis	ORPHA:394
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis, Camptodactyly	OMIM:616894
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Waddling gait, Respiratory distress, Recurrent pneumonia, Abnormal pons morphology, Failure to th...	ORPHA:99646
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Hypoplasia ...	OMIM:249420
Wolf-Hirschhorn Syndrome	Vertebral fusion, Decreased muscle mass, Sacral dimple, Small for gestational age, Absent septum ...	OMIM:194190
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Alkaptonuria	Low back pain, Vertebral fusion, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener...	OMIM:203500
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Microcephaly, Kyphosis, C...	ORPHA:2232
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Cerebral calcification, Ataxia, Kyphosis, Flexion contr...	OMIM:259050
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis, Optic atrophy	ORPHA:324540
Witteveen-Kolk Syndrome	Poor motor coordination, Small for gestational age, Congenital diaphragmatic hernia, Microcephaly...	OMIM:613406
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis, Failure to thrive	OMIM:239000
Igg4-Related Thyroid Disease	Vocal cord paralysis	ORPHA:64744
Sotos Syndrome	Hip contracture, Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Aganglionic megacolon, As...	ORPHA:821
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Neurofibromatosis Type 1	Astrocytoma, Ataxia, Kyphosis, Paresthesia, Scoliosis	ORPHA:636
Isolated Arrhinia	Respiratory distress	ORPHA:1134
8Q24.3 Microdeletion Syndrome	Respiratory distress, Small for gestational age, Optic nerve hypoplasia	ORPHA:508488
Pigmented Nodular Adrenocortical Disease, Primary, 1	Truncal obesity, Kyphosis	OMIM:610489
Poland Syndrome	Congenital diaphragmatic hernia, Short neck, Microcephaly, Kyphosis, Aplasia of the pectoralis ma...	ORPHA:2911
Pagod Syndrome	Optic atrophy, Abnormality of neuronal migration, Congenital diaphragmatic hernia, Microcephaly	ORPHA:991
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Lenz-Majewski Hyperostotic Dwarfism	Absent septum pellucidum, Facial palsy, Kyphosis, Scoliosis, Agenesis of corpus callosum	ORPHA:2658
Marfan Syndrome	Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Slender build, Spondylolisthesis	ORPHA:558
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Failure to thrive	ORPHA:83617
17Q11 Microdeletion Syndrome	Abnormal central motor function, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Kyphosis, Abnormali...	ORPHA:97685
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Absent septum pellucidum, Anencephaly, Gray matter heterotopia, Agene...	OMIM:236680
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Failure to thrive, Small for gestational age	ORPHA:2255
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Scoliosis	OMIM:619557
Autosomal Recessive Robinow Syndrome	Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol...	ORPHA:1507
Williams-Beuren Syndrome	Incoordination, Failure to thrive in infancy, Poor coordination, Vocal cord paralysis, Obesity, C...	OMIM:194050
Gaucher Disease Type 1	Kyphosis, Vertebral compression fracture	ORPHA:77259
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Microcephaly, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Ver...	OMIM:259770
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Acromegaly	Cerebral palsy, Kyphosis, Spinal canal stenosis, Macroglossia, Paresthesia	ORPHA:963
Somatomammotropinoma	Cerebral palsy, Kyphosis, Spinal canal stenosis, Macroglossia, Paresthesia	ORPHA:314769
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Oculocerebrorenal Syndrome Of Lowe	Clonus, Kyphosis, Platyspondyly, Scoliosis, Failure to thrive	ORPHA:534
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Leptospirosis	Respiratory distress, Papilledema, Pleural effusion, Cough	ORPHA:509
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Codas Syndrome	Vocal cord paresis	OMIM:600373
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis	OMIM:619482
Pmm2-Cdg	Respiratory distress, Cerebellar vermis hypoplasia, Abnormality of coordination, Ataxia, Cerebell...	ORPHA:79318
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Kyphosis, Periventricular cysts, Platyspondyly, Scoli...	OMIM:309000
Feingold Syndrome 1	Vocal cord paralysis	OMIM:164280
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Vertebral segmentation defect, Abnormality of neuronal migration, Microcephaly	ORPHA:3186
White-Kernohan Syndrome	Dysplastic corpus callosum, Obesity	OMIM:619426
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Cerebrocostomandibular Syndrome	Cerebral calcification, Microcephaly, Kyphosis, Porencephalic cyst, Hydranencephaly	ORPHA:1393
Cdags Syndrome	Kyphosis	OMIM:603116
Wrinkly Skin Syndrome	Scapular winging, Hypoplasia of the musculature, Microcephaly, Kyphosis, Scoliosis, Failure to th...	OMIM:278250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis	OMIM:614748
Ramon Syndrome	Optic disc pallor, Kyphosis, Scoliosis, Decreased body weight	OMIM:266270
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight	OMIM:182210
Lymphedema-Distichiasis Syndrome	Kyphosis, Patent ductus arteriosus	OMIM:153400
Proteus Syndrome	Decreased muscle mass, Cachexia, Kyphosis, Abnormal form of the vertebral bodies, Gray matter het...	ORPHA:744
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Failure to thrive in infancy, Anterior c...	OMIM:216340
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Cerebral calcification, Scoliosis	ORPHA:198
Alström Syndrome	Respiratory distress, Optic disc pallor, Somatic sensory dysfunction, Incoordination, Ataxia, Chr...	ORPHA:64
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Failure to thrive in infancy	ORPHA:51608
Coffin-Lowry Syndrome	Microcephaly, Kyphosis, Lumbar kyphosis, Scoliosis, Decreased body weight	OMIM:303600
Occipital Horn Syndrome	Kyphosis, Orthostatic hypotension, Platyspondyly	OMIM:304150
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Branchiooculofacial Syndrome	Agenesis of cerebellar vermis, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Microcephaly, E...	OMIM:113620
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99228
Monosomy X	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis	ORPHA:881
Viss Syndrome	Microcephaly, Kyphosis, Patent ductus arteriosus, Macroglossia, Scoliosis, Failure to thrive, Con...	OMIM:619472

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 Plaa

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 Plaa.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.	American journal of human genetics (April 2017)	Plaa^{tm1(NCOM)Cmhd}	PMC5420347

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Plaa^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Plaa^{em1(IMPC)Kmpc}	Indel	Mice
Plaa^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Plaa^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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