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Gene: Grm1 MGI:1351338

Gene Summary

Name:

glutamate receptor, metabotropic 1

Synonyms:

mGluR1, Grm1, rcw, Gprc1a, 4930455H15Rik, nmf373

Order Alleles

IMPC Data Collections

No Body Weight Data
Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

4 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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Human diseases caused by Grm1 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 Grm1 (3 diseases)
Human diseases predicted to be associated with Grm1 (1898 diseases)

The table below shows human diseases associated to Grm1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Dysdiadochokinesis, Limb dysmetria, Dysmetria, Gait ataxia	ORPHA:324262

The table below shows human diseases predicted to be associated to Grm1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Photoparoxysmal Response 1	EEG with photoparoxysmal response	OMIM:132100
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups	EEG abnormality	OMIM:130300
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon	EEG abnormality	OMIM:130200
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Posterior Column Ataxia	Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis	OMIM:176250
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication	OMIM:619491
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Spinocerebellar Ataxia, X-Linked 2	Ataxia, Abnormality of extrapyramidal motor function	OMIM:302600
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Ataxia, Hypogonadotropic hypogonadism	ORPHA:1180
Spinocerebellar Ataxia Type 4	Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d...	ORPHA:98765
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal...	ORPHA:85292
X-Linked Complicated Spastic Paraplegia Type 1	Ataxia, Spastic paraplegia, Cognitive impairment, Mental deterioration, Upper motor neuron dysfun...	ORPHA:306617
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Ataxia-Oculomotor Apraxia Type 1	Ataxia, Gait disturbance	ORPHA:1168
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor	OMIM:190200
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Episodic Ataxia Type 5	Ataxia, Truncal ataxia	ORPHA:211067
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Episodic Ataxia, Type 8	Episodic ataxia, Slurred speech, Ataxia, Intention tremor	OMIM:616055
Atonic-Astatic Syndrome Of Foerster	Inability to walk, Ataxia, Abasia	OMIM:209100
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Spinocerebellar Ataxia 37	Tremor, Unsteady gait, Frequent falls, Ataxia	OMIM:615945
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia	ORPHA:217012
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Hereditary Geniospasm	EEG abnormality, Abnormal social behavior, Chin myoclonus, Intention tremor	ORPHA:53372
Ataxia With Fasciculations	Ataxia, Fasciculations	OMIM:108700
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst...	ORPHA:401901
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment	OMIM:617018
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Ataxia-Deafness-Retardation Syndrome	Ataxia	OMIM:208850
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia	ORPHA:423296
Cerebellar Ataxia, Cayman Type	Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia	OMIM:601238
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Neuhauser-Eichner-Opitz Syndrome	Rigidity, Spasticity, Hypertonia, Ataxia	ORPHA:2672
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Cerebellar Ataxia, Cayman Type	Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor	ORPHA:94122
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Spastic Paraplegia 72, Autosomal Recessive	Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low...	OMIM:615625
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Intellectual Developmental Disorder, Autosomal Recessive 64	Spasticity, Hypertonia, Slurred speech, Impaired social interactions	OMIM:618103
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Episodic Kinesigenic Dyskinesia 2	Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia	OMIM:611031
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, Spastic paraplegia, IgA deposition in the glomer...	OMIM:182690
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Intellectual Developmental Disorder, Autosomal Recessive 6	Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus	OMIM:611092
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Spinocerebellar Ataxia Type 23	Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr...	ORPHA:101108
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto...	ORPHA:79262
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy, Spastic diplegia, Choreoathetosis	OMIM:257970
Myoclonus-Cerebellar Ataxia-Deafness Syndrome	Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor	ORPHA:2589
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Roussy-Lévy Syndrome	Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai...	ORPHA:3115
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Tremor, Hereditary Essential, 2	Kinetic tremor, Upper limb postural tremor	OMIM:602134
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Involuntary movements, Dystonia	OMIM:620245
Autosomal Spastic Paraplegia Type 72	Postural tremor, Rigidity, Memory impairment, Spastic gait, Impaired vibration sensation at ankles	ORPHA:401849
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon...	OMIM:611225
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Galloway-Mowat Syndrome 5	Epicanthus, Proteinuria, Ataxia, Stage 5 chronic kidney disease, Focal segmental glomeruloscleros...	OMIM:617731
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Autism, Susceptibility To, 20	Impaired social interactions	OMIM:618830
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Dementia, Ataxia, Gait disturbance	ORPHA:2274
Spinocerebellar Ataxia 35	Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul...	OMIM:613908
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Spinocerebellar Ataxia, Autosomal Recessive 22	Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,...	OMIM:616948
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity	ORPHA:309169
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Dysmetria, Nephro...	OMIM:301006
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Cognitive impairme...	OMIM:615768
Epilepsy, Progressive Myoclonic 7	Mental deterioration, Ataxia, Tremor, Myoclonus	OMIM:616187
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at...	ORPHA:101109
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra...	OMIM:615362
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Claw hand deformity, Stage 5 chronic kidney disease, Distal sensory impairment, Foca...	OMIM:614455
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa...	OMIM:128230
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Epilepsy, Progressive Myoclonic, 12	Ataxia, Dysmetria, Depression, Myoclonus, Attention deficit hyperactivity disorder, Difficulty wa...	OMIM:619191
Spinocerebellar Ataxia, Autosomal Recessive 25	Babinski sign, Ataxia, Dysmetria, Truncal ataxia	OMIM:617584
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	EEG abnormality, Abnormal social behavior	ORPHA:436151
Spinocerebellar Ataxia 23	Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ...	OMIM:610245
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Chromosome 15Q11-Q13 Duplication Syndrome	Unsteady gait, Impaired ability to form peer relationships, EEG abnormality, Impaired social inte...	OMIM:608636
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Spinocerebellar Ataxia 41	Unsteady gait, Ataxia, Gait ataxia	OMIM:616410
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Focal dystonia, Irri...	ORPHA:216873
Ataxia With Myoclonic Epilepsy And Presenile Dementia	Dementia, Ataxia, Myoclonus	OMIM:208700
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal sensory impairment	OMIM:614369
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Myoclonus, Cerebellar Ataxia, And Deafness	Ataxia, Myoclonus	OMIM:159800
Dentatorubral-Pallidoluysian Atrophy	Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonus, Dystonia	OMIM:125370
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv...	ORPHA:284332
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Dystonia With Cerebellar Atrophy	Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia	OMIM:611694
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto...	OMIM:213600
Intellectual Developmental Disorder, Autosomal Recessive 77	Unsteady gait, Head tremor	OMIM:619988
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Difficulty walking, Distal sensory impairment	OMIM:615048
Paroxysmal Exertion-Induced Dyskinesia	Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ...	ORPHA:98811
Intellectual Developmental Disorder, Autosomal Recessive 66	Shyness, Gait ataxia	OMIM:618221
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Ataxia, Mesangial hypercellularity, Cryptorchidism, Sta...	OMIM:617575
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Impaired social interactions	OMIM:606053
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dy...	OMIM:617145
Urocanic Aciduria	Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor	ORPHA:210128
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101075
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia, Irritabi...	OMIM:618093
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Spinocerebellar Ataxia Type 35	Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P...	ORPHA:276193
Spastic Paraplegia-Nephritis-Deafness Syndrome	Proteinuria, Paraplegia, Gait disturbance, Nephropathy, Spasticity	ORPHA:2820
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni...	OMIM:606438
Spinocerebellar Ataxia, Autosomal Recessive 6	Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor	OMIM:608029
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Scholte Syndrome	Reduced subcutaneous adipose tissue, Epicanthus, Kyphoscoliosis, Abnormal pyramidal sign, Upslant...	OMIM:300977
Spinocerebellar Ataxia 14	Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Focal dystonia, Attention defi...	OMIM:605361
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Polymyoclonus, Infantile	Irritability, Ataxia, Myoclonus	OMIM:263550
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor	OMIM:302500
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l...	OMIM:128235
X-Linked Charcot-Marie-Tooth Disease Type 4	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Lichtenstein-Knorr Syndrome	Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor	OMIM:616291
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention...	OMIM:301310
Dystonia 28, Childhood-Onset	Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ...	OMIM:617284
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Ataxia, Hypergonadotropic hypogonadism, Tremor, Nephrotic s...	OMIM:607426
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Intellectual Developmental Disorder, Autosomal Dominant 69	Intention tremor	OMIM:617863
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Proteinuria, Glomerulonephritis, Ataxia, Synophrys, Nephrotic syndrome, Head tremor,...	OMIM:619428
Autosomal Recessive Spastic Paraplegia Type 67	Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ...	ORPHA:401820
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,...	OMIM:615924
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Parkinsonism with...	OMIM:616710
Alternating Hemiplegia Of Childhood 2	Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Mental deterioration, Hemi...	OMIM:614820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Spinocerebellar Ataxia, Autosomal Recessive 14	Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor	OMIM:615386
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata...	ORPHA:53583
3-Methylglutaconic Aciduria Type 3	Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis	ORPHA:67047
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Increased urinary disaccharide excretion, Irregular verteb...	OMIM:271630
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl...	ORPHA:306692
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro...	OMIM:613913
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Postural tremor, Kyphoscoliosis, Ankle flexion contracture, Babinski sign, Distal sensory impairm...	OMIM:616668
Epilepsy, Progressive Myoclonic, 11	Rigidity, Ataxia, Myoclonus, Intention tremor	OMIM:618876
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai...	OMIM:615528
Spastic Paraplegia 78, Autosomal Recessive	Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram...	OMIM:617225
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty...	ORPHA:98764
Huntington Disease-Like 1	Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Depression, Dementia, Mania	OMIM:603218
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros...	OMIM:136680
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu...	OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 10	Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor	OMIM:613728
Dystonia 9	Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Cognitive impairment, ...	OMIM:601042
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Intellectual Developmental Disorder, Autosomal Recessive 14	Intention tremor	OMIM:614020
Autosomal Recessive Spastic Paraplegia Type 70	Lower limb spasticity, Hand tremor, Progressive spastic paraplegia	ORPHA:401835
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr...	ORPHA:453521
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady gait, ...	OMIM:254900
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Rigidity, Tremor, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm...	ORPHA:240085
Epilepsy, Progressive Myoclonic, 8	Progressive neurologic deterioration, Limb ataxia, Choreoathetosis, Dementia, Gait disturbance, M...	OMIM:616230
Epilepsy, Progressive Myoclonic, 6	Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment	OMIM:614018
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi...	ORPHA:284324
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im...	OMIM:615483
Paroxysmal Kinesigenic Dyskinesia	Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia	ORPHA:98809
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim...	ORPHA:95434
Nystagmus, Hereditary Vertical	Abnormal vestibulo-ocular reflex, Ataxia	OMIM:164150
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens...	OMIM:600363
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu...	OMIM:602124
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt...	ORPHA:240103
Combined Oxidative Phosphorylation Deficiency 32	Kyphoscoliosis, Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Joint contracture, ...	OMIM:617664
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia	Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor	OMIM:620221
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Spinocerebellar Ataxia 11	Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia	OMIM:604432
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Cryptorchi...	OMIM:616817
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Brown-Vialetto-Van Laere Syndrome 2	Ataxia, Kyphoscoliosis, Clumsiness, Organic aciduria, Tongue fasciculations, Scoliosis	OMIM:614707
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis	OMIM:617006
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Spastic Paraplegia 20, Autosomal Recessive	Lower limb spasticity, Kyphoscoliosis, Babinski sign, Spastic paraplegia, Flexion contracture, Dy...	OMIM:275900
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Neurogenic bladder, Paroxysmal dystonia, Detrusor sphincter dyssynergia, U...	ORPHA:466722
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B...	OMIM:618317
X-Linked Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive...	ORPHA:1175
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Epicanthus, Lumbar hyperlordosis, Thoracolumbar scoliosis, K...	ORPHA:3041
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression...	OMIM:616795
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P...	ORPHA:347
3-Methylglutaconic Aciduria, Type Iii	Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Cognitive impairment...	OMIM:258501
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Babinski sign...	OMIM:300055
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Coenzyme Q10 Deficiency, Primary, 9	Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo...	OMIM:619028
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, Limb dystonia, ...	ORPHA:71517
Spastic Paraplegia 46, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Urinary incontinence, Kyphosis, Babinski sig...	OMIM:614409
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Impaired proprioception, Dysm...	ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait	OMIM:618387
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Epicanthus, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Wernicke-Korsakoff Syndrome	Memory impairment, Delirium, Ataxia, Confusion	OMIM:277730
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Kyphoscoliosis, Minimal change glomerulonephritis, Stag...	OMIM:618348
Spinal Muscular Atrophy, Ryukyuan Type	Fasciculations, Kyphoscoliosis	OMIM:271200
Spastic Paraplegia, Ataxia, And Mental Retardation	Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vibration sensation in...	OMIM:607565
Spinocerebellar Ataxia 17	Broad-based gait, Dystonia, Ataxia, Confusion, Parkinsonism, Rigidity, Chorea, Dysmetria, Depress...	OMIM:607136
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Galactosemia I	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala...	OMIM:230400
Autosomal Dominant Striatal Neurodegeneration	Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance	ORPHA:228169
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Benign Adult Familial Myoclonic Epilepsy	Myoclonus, Hand tremor	ORPHA:86814
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive...	OMIM:608709
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Valinemia	Valinuria, Hyperkinetic movements	OMIM:277100
Spinocerebellar Ataxia, Autosomal Recessive 20	Epicanthus, Ataxia, Kyphoscoliosis, Inability to walk, Babinski sign, Oligosacchariduria, Camptod...	OMIM:616354
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Hyperekplexia 4	Inguinal hernia, Kyphoscoliosis, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonu...	OMIM:618011
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Ceroid Lipofuscinosis, Neuronal, 5	Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation, Mo...	OMIM:256731
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Gait disturbance, Scoliosis	ORPHA:99014
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Lower Motor Neuron Syndrome With Late-Adult Onset	Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul...	ORPHA:276435
Spinocerebellar Ataxia, Autosomal Recessive 17	Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Limb ataxi...	OMIM:616127
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Charcot-Marie-Tooth Disease, Axonal, Type 2Z	Incoordination, Ataxia, Urinary incontinence, Impaired distal proprioception, Impaired distal vib...	OMIM:616688
Gordon Holmes Syndrome	Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary amenorrhea, Dementia...	OMIM:212840
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor	OMIM:620158
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Autosomal Recessive Spastic Paraplegia Type 48	Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Myoclonus, U...	ORPHA:306511
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst...	ORPHA:397946
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Action tremor	OMIM:180800
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d...	OMIM:614898
Intellectual Developmental Disorder, X-Linked 111	Cerebral palsy, Kyphoscoliosis, Unsteady gait, Dystonia, Spasticity	OMIM:301107
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Scolio...	OMIM:611555
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Hiatus hernia, Almond-shaped palpebral fissure, Stage 5 chronic kidn...	OMIM:619603
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis, Frequent falls	OMIM:300718
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Spinocerebellar Ataxia 27B, Late-Onset	Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Spastic Paraplegia 70, Autosomal Recessive	Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, Fasciculations, Scoliosis...	OMIM:620323
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturba...	ORPHA:1192
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Kyphoscoliosis, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Joint contracture, Sp...	OMIM:617977
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor function, Dystonia	OMIM:615159
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Lower limb spasticity, Kyphoscoliosis, Babinski sign, Knee flexion contracture, Tip-toe gait, Pro...	ORPHA:496689
Epilepsy, Familial Adult Myoclonic, 1	Tremor	OMIM:601068
Dystonia 31	Abnormal posturing, Parkinsonism, Difficulty walking	OMIM:619565
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Myoclonus, Dystonia	OMIM:619651
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Paroxysmal Non-Kinesigenic Dyskinesia	Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy...	ORPHA:98810
Autosomal Dominant Spastic Paraplegia Type 6	Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para...	ORPHA:100988
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Bradykines...	ORPHA:157941
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi...	ORPHA:504476
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Nemaline Myopathy 7	Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture, Gait disturbance, ...	OMIM:610687
Baker-Gordon Syndrome	Epicanthus, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movem...	OMIM:618218
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5...	ORPHA:567548
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Hyperlordosis, Spinal rigidity, Kyphosis, Tip-toe gait, Gait disturbance, ...	OMIM:617404
Developmental And Epileptic Encephalopathy 41	Kyphoscoliosis, Inability to walk, Babinski sign, Flexion contracture, Nephrocalcinosis, Tetrapar...	OMIM:617105
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy	Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity	OMIM:183050
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Spinocerebellar Ataxia 49	Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Dementia, Abnormality of ext...	OMIM:619806
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation	OMIM:617916
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia	OMIM:278780
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat...	ORPHA:79263
Whistling Face Syndrome, Recessive Form	Telecanthus, Epicanthus, Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Short nec...	OMIM:277720
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Inability t...	OMIM:616756
Spinocerebellar Ataxia, Autosomal Recessive 21	Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia...	OMIM:616719
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Cednik Syndrome	Ataxia, Proteinuria, Nephrotic syndrome, Hypogonadism, Downslanted palpebral fissures	ORPHA:66631
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidne...	ORPHA:567546
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at...	ORPHA:352403
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Charcot-Marie-Tooth Disease Type 1A	Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Gait disturbance, Gait imbalance, Pare...	ORPHA:101081
Spinocerebellar Ataxia 32	Azoospermia, Ataxia, Infertility, Testicular atrophy	OMIM:613909
Spinocerebellar Ataxia 29	Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ...	OMIM:117360
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Abnormal synaptic trans...	ORPHA:683
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor function, Scol...	OMIM:610743
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Impaired distal vibration sensation, Limb a...	OMIM:208920
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Emotional lability, Depression, Gait ataxia, Bradyki...	OMIM:137440
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Hypergonadotropic hypogonadism, Ataxia	ORPHA:88637
Leukoencephalopathy, Progressive, With Ovarian Failure	Ataxia, Babinski sign, Hand tremor, Depression, Dementia, Dystonia, Spasticity, Apraxia	OMIM:615889
Foxg1 Syndrome	Dystonia, Kyphoscoliosis, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, ...	ORPHA:561854
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Depression, Irritability, Bradykinesia, ...	ORPHA:248111
Trisomy X	Epicanthus, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Secondary amenorrhea,...	ORPHA:3375
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Limb dystonia	OMIM:620270
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis, Difficulty walking, Distal sensory impairment	OMIM:617087
Developmental And Epileptic Encephalopathy 69	Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus...	OMIM:618285
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B...	ORPHA:240094
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Spastic tetraparesis, Stage...	OMIM:619487
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Spinocerebellar Ataxia, Autosomal Recessive 7	Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead...	OMIM:609270
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Autosomal Recessive Spastic Paraplegia Type 23	Waddling gait, Kyphoscoliosis, Spastic paraplegia, Horseshoe kidney, Spastic gait	ORPHA:101003
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Epicanthus, Dystonia, Ataxia, Head titubation, Dysmetria, Aminoaciduria, Abnormality of the verte...	OMIM:250620
Intellectual Developmental Disorder, Autosomal Recessive 48	Tremor, Emotional lability, Waddling gait, Inability to walk	OMIM:616269
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca...	ORPHA:276621
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Neuronal Intranuclear Inclusion Disease	Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impa...	OMIM:603472
Spinocerebellar Ataxia, Autosomal Recessive 30	Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation	OMIM:619405
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,...	ORPHA:329918
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Masa Syndrome	Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait	OMIM:303350
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Spinocerebellar Ataxia Type 29	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Oculomotor apraxia, Int...	ORPHA:208513
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Spinocerebellar Ataxia 5	Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysmetria, Gait ataxia, L...	OMIM:600224
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Parkinsonism With Polyneuropathy	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:619279
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
Proteus Syndrome	Kyphoscoliosis, Spinal canal stenosis, Multiple lipomas, Lipoma, Limbal dermoid, Downslanted palp...	OMIM:176920
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Mental deterioration...	OMIM:609260
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation...	OMIM:300623
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Spinocerebellar Ataxia Type 26	Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia...	ORPHA:101112
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spinal Arteriovenous Metameric Syndrome	Abnormality of the kidney, Kyphoscoliosis, Paraparesis, Cutaneous angiolipomas, Abnormality of th...	ORPHA:53721
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Seckel Syndrome 8	Kyphoscoliosis, Ectopic kidney	OMIM:615807
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer...	ORPHA:254881
Autosomal Recessive Spastic Paraplegia Type 53	Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia	ORPHA:319199
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Ir...	OMIM:261640
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Sh...	ORPHA:3077
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Congenital Disorder Of Glycosylation, Type Iik	Hemolytic-uremic syndrome, Kyphoscoliosis, Amelogenesis imperfecta	OMIM:614727
Perry Syndrome	Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function	ORPHA:178509
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor...	ORPHA:98759
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Atlantoaxial abnormality, Downslanted palpebral fissures, Shuffling gait, Kyphoscoliosis	ORPHA:3433
Spondyloepiphyseal Dysplasia, Stanescu Type	Waddling gait, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies	OMIM:616583
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Myoclonus, Podocyte foo...	OMIM:619609
Charcot-Marie-Tooth Disease Type 4D	Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Inability to walk, Unsteady gait, D...	ORPHA:99950
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ...	OMIM:602629
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca...	ORPHA:29072
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ...	OMIM:619574
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Epicanthus, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disea...	OMIM:617729
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Abnormal posturing, Opisthotonus, Increased susceptibility to fractures, Weigh...	ORPHA:216866
Saccharopinuria	Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment, Cognitive impairment, Mental de...	ORPHA:3124
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Hyperphenylalaninemia, Bh4-Deficient, B	Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet...	OMIM:233910
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Scoliosis...	OMIM:620386
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia	ORPHA:306669
Developmental And Epileptic Encephalopathy 37	Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M...	OMIM:616981
Ichthyosis--Cheek--Eyebrow Syndrome	Kyphoscoliosis, Sparse lateral eyebrow	OMIM:146720
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia...	OMIM:619862
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Primary Dystonia, Dyt4 Type	Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Upper limb postural tre...	ORPHA:98805
Congenital Muscular Dystrophy Without Intellectual Disability	Kyphoscoliosis, Achilles tendon contracture, Tip-toe gait, Difficulty walking, Frequent falls	ORPHA:370980
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Ataxia	OMIM:618951
Allan-Herndon-Dudley Syndrome	Ataxia, Kyphoscoliosis, Cryptorchidism, Babinski sign, Abnormal pyramidal sign, Spastic tetrapleg...	ORPHA:59
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Schimke Immunoosseous Dysplasia	Waddling gait, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Sh...	OMIM:242900
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus	ORPHA:36899
Autosomal Recessive Spastic Paraplegia Type 9B	Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Pollakisuria, Tip-toe gait, Urinary ...	ORPHA:447760
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia	ORPHA:225
Developmental And Epileptic Encephalopathy 56	Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Action tremor	OMIM:617665
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Spastic ataxia, Somatic sensory dysfunction, Kyphoscoliosis, Rigidity, Abnormal pyrami...	ORPHA:199354
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urina...	ORPHA:391417
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment	ORPHA:820
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at...	ORPHA:276183
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal...	ORPHA:2590
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Broad-based gait, Hip contracture, Hyperlordosis, Kyphosis,...	OMIM:615290
Mucopolysaccharidosis-Plus Syndrome	Epicanthus, Telecanthus, Proteinuria, Short neck, Inability to walk, Synophrys, Flexion contractu...	OMIM:617303
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr...	ORPHA:282166
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Hypospadias, Cryptorchidism, Unsteady gait, Upslanted palpebral fissure, Aminoaciduri...	OMIM:214100
Spinocerebellar Ataxia 44	Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Congenital Myopathy 23	Waddling gait, Difficulty walking, Flexion contracture, Kyphoscoliosis	OMIM:609285
Combined Saposin Deficiency	Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements	OMIM:611721
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis	ORPHA:329284
Pelizaeus-Merzbacher Disease, Classic Form	Dystonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athet...	ORPHA:280219
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity	OMIM:176500
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis	OMIM:612847
Spinocerebellar Ataxia 2	Impaired vibratory sensation, Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidi...	OMIM:183090
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment	ORPHA:79234
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Ataxia, Kyphoscoliosis, Dystonia	OMIM:616684
Chromosome 2P16.1-P15 Deletion Syndrome	Decreased testicular size, Telecanthus, Epicanthus, Kyphoscoliosis, Cryptorchidism, Spasticity, H...	OMIM:612513
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Gm1-Gangliosidosis, Type Iii	Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Truncal ataxia, Hand tremor, Dysmetria, Limb ataxia, Tongue fasciculations...	ORPHA:276198
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Autosomal Recessive Ataxia, Beauce Type	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Urinary incontinence, Kyphosis, Babi...	ORPHA:88644
Spinocerebellar Ataxia 21	Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro...	OMIM:607454
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia	OMIM:612126
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo...	OMIM:618877
Thyrocerebrorenal Syndrome	Renal insufficiency, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis	ORPHA:3327
X-Linked Charcot-Marie-Tooth Disease Type 3	Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa...	ORPHA:101077
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Telecanthus, Broad-based gait, Palpebral edema, Ataxia, Kyphoscol...	ORPHA:397709
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Minimal change glomerulonephritis, Sho...	ORPHA:1830
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati...	ORPHA:137898
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Hypogonadotropic hypogonadism, Ataxia, Kyphoscoliosis, Hypergonadotropic hypogonadism, Chorea, Ba...	OMIM:604168
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Ataxia, Tongue fasciculations	OMIM:620007
Behr Syndrome	Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity...	OMIM:210000
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Somatic sensory dysfunction, Tremor, Inability to walk, Fatiguable weakness of proximal limb musc...	ORPHA:90117
Spinocerebellar Ataxia 4	Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment	OMIM:600223
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Epicanthus, Renal insufficiency, Proteinuria, Ataxia, Hiatus hernia,...	OMIM:251300
Spinocerebellar Ataxia 6	Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,...	OMIM:183086
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Spasticity, Ptosis	OMIM:616239
Pellagra-Like Syndrome	Ataxia, Confusion	OMIM:260650
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Amyloidosis, Familial Visceral	Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria	OMIM:105200
Hypertrophic Neuropathy Of Dejerine-Sottas	Broad-based gait, Kyphoscoliosis, Impaired distal vibration sensation, Distal sensory impairment,...	OMIM:145900
Cystathioninuria	Tremor, Cystathioninuria, Nephrolithiasis	ORPHA:212
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Huntington Disease-Like 3	Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct...	OMIM:604802
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Dystonia, Oculogyric crisis, Tremor, Bilateral ptosis, Inability to walk, Difficulty walking, Sco...	ORPHA:330050
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Progressive neurologic deterioration, Babinski sign, Focal dystonia, Spastic dys...	ORPHA:447757
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Developmental And Epileptic Encephalopathy 11	Hyperkinetic movements, Spastic tetraplegia	OMIM:613721
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi...	OMIM:617013
Aapoaiv Amyloidosis	Back pain, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, C...	ORPHA:439232
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra...	ORPHA:13
Flynn-Aird Syndrome	Ataxia, Kyphoscoliosis	OMIM:136300
Hereditary Renal Hypouricemia	Back pain, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithi...	ORPHA:94088
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Downslanted palpebral fissures, Kyphoscoliosis	OMIM:612913
Ck Syndrome	Epicanthus, Lumbar hyperlordosis, Kyphoscoliosis, Almond-shaped palpebral fissure, Upslanted palp...	ORPHA:251383
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Tremor, Dementia, Tongue fasciculations, Myoclonus, Difficulty walking, Frequent falls	OMIM:159950
Warburg Micro Syndrome 1	Cryptorchidism, Spastic diplegia, Kyphoscoliosis, Ptosis	OMIM:600118
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Dystonia, Ataxia, Urinary incontinence, Kyphosis, Unsteady ...	ORPHA:464282
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Scoliosis, Dysto...	OMIM:614254
Spinocerebellar Ataxia 34	Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp...	OMIM:133190
Sandhoff Disease, Juvenile Form	Incoordination, Ataxia, Urinary incontinence, Limb joint contracture, Abnormal pyramidal sign, Ga...	ORPHA:309162
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Distal sensory impairment, Scoliosis, L...	OMIM:618124
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Gait disturbance	ORPHA:85193
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Steppage gait, Kyphoscoliosis, Distal sensory impairment	OMIM:605588
Facial Onset Sensory And Motor Neuronopathy	Paresthesia, Fasciculations	ORPHA:85162
Rahman Syndrome	Telecanthus, Kyphoscoliosis, Cryptorchidism, Hypertonia, Camptodactyly	OMIM:617537
Epilepsy, Progressive Myoclonic, 9	Gait ataxia, Myoclonus, Scoliosis, Action myoclonus, Frequent falls	OMIM:616540
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Free Sialic Acid Storage Disease	Proteinuria, Ataxia, Abnormal pyramidal sign, Nephrotic syndrome, Athetosis, Gait disturbance, Oc...	ORPHA:834
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic ...	OMIM:222600
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Striatonigral Degeneration, Infantile, Mitochondrial	Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi...	OMIM:500003
Alzheimer Disease 3	Spastic tetraparesis, Babinski sign, Dementia, Abnormality of extrapyramidal motor function, Myoc...	OMIM:607822
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Ataxia	OMIM:300983
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Hyperkinetic movements, Ataxia, Increased level of gamma-...	OMIM:271980
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, ...	OMIM:300894
Rhizomelic Chondrodysplasia Punctata, Type 1	Kyphoscoliosis, Flexion contracture, Upslanted palpebral fissure, Coronal cleft vertebrae, Spasti...	OMIM:215100
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria, Lipoatrophy	ORPHA:79087
Ataxia-Oculomotor Apraxia Type 4	Somatic sensory dysfunction, Ataxia, Kyphoscoliosis, Dystonia, Oculomotor apraxia	ORPHA:459033
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia...	ORPHA:70594
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Confusion, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubat...	OMIM:607483
Schwartz-Jampel Syndrome, Type 1	Waddling gait, Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Cervical kyphosis, Kyphosc...	OMIM:255800
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
King-Denborough Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Bilateral ptosis, Cry...	OMIM:619542
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair...	OMIM:302800
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Spermatogenic Failure 17	Male infertility	OMIM:617214
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom...	OMIM:618060
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy...	OMIM:604391
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Unsteady gait...	ORPHA:93952
Maternal Uniparental Disomy Of Chromosome 9	Hamstring contractures, Abnormal vertebral morphology, Kyphoscoliosis, Short neck	ORPHA:96183
Leukodystrophy, Hypomyelinating, 17	Inability to walk, Flexion contracture, Kyphoscoliosis	OMIM:618006
Intellectual Developmental Disorder, X-Linked 19	Scoliosis, Kyphoscoliosis	OMIM:300844
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Joubert Syndrome 18	Kyphoscoliosis, Camptodactyly, Renal cyst, Horseshoe kidney	OMIM:614815
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Bilateral ptosis, Renal tubul...	ORPHA:99885
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Tetraparesis, Kyphoscoliosis, Dystonia	OMIM:618230
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Akinesia, Tremor, Abn...	ORPHA:240071
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Warburg Micro Syndrome 3	Lower limb spasticity, Kyphoscoliosis, Inability to walk, Flexion contracture, Spastic tetraplegi...	OMIM:614222
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking	ORPHA:477673
Classic Phenylketonuria	Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder,...	ORPHA:79254
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Hypertonia, Spasticity	ORPHA:33445
Machado-Joseph Disease	Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi...	OMIM:109150
Spinocerebellar Ataxia Type 18	Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor	ORPHA:98771
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Dysdiadochokinesis, Limb dysmetria, Dysmetria, Gait ataxia	ORPHA:324262
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait...	OMIM:311510
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Myo...	OMIM:168601
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis,...	OMIM:619317
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Incoordination, Scoliosis, Abnormal renal physiology	OMIM:223900
Leukoencephalopathy With Ataxia	Action tremor, Limb ataxia, Gait ataxia	OMIM:615651
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma...	OMIM:614298
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
4H Leukodystrophy	Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram...	ORPHA:289494
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Spastic Tetraplegia And Axial Hypotonia, Progressive	Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,...	OMIM:618598
Manganese Poisoning	Postural tremor, Confusion, Akinesia, Emotional lability, Depression, Irritability, Cogwheel rigi...	ORPHA:306682
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Subco...	ORPHA:157846
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Abnormality of the ...	ORPHA:48431
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Epicanthus, Telecanthus, Sparse eyelashes, Lipodystrophy, Kyphoscoliosis, Sparse eyebrow, Cryptor...	ORPHA:75496
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Ptosis, Slurred speech, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, Ankle clonus,...	ORPHA:284289
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor...	OMIM:312080
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis...	ORPHA:536516
Developmental And Epileptic Encephalopathy 42	Tremor, Athetosis, Hypertonia, Ataxia	OMIM:617106
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Episodic Ataxia Type 1	Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait, Scoliosis	ORPHA:37612
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Bradykinesia, Gait ataxia, Gait ...	ORPHA:225147
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Unsteady gait, Ataxia, Scoliosis	OMIM:300861
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial...	ORPHA:812
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni...	OMIM:616840
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Kyphoscoliosis, Kyphosis, Synophrys, Camptodactyly, Scoliosis, Difficulty walking,...	OMIM:300280
Sandhoff Disease	Kyphosis, Ataxia	ORPHA:796
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation	OMIM:615010
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Broad-based gait, Spastic tetraparesis	OMIM:619470
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Inability to walk, Chorea, Kyphosis, Abnormal pyramidal sign, Gait ataxi...	ORPHA:500180
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Spastic tetraplegia, Kyphoscoliosis	OMIM:300886
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia,...	OMIM:617435
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis, Ataxia, Gait disturbance	ORPHA:85317
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Limb joint contracture, Hypogonadotropic hypogonadism, Kypho...	OMIM:612079
Al Amyloidosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,...	ORPHA:85443
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ...	ORPHA:401768
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia...	ORPHA:98756
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development	Postural tremor, Ataxia	OMIM:300619
Developmental And Epileptic Encephalopathy 92	Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity	OMIM:617829
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Epicanthus, Congenital diaphrag...	OMIM:194080
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia, Sho...	OMIM:168600
Cdkl5-Deficiency Disorder	Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis, Difficulty walking	ORPHA:505652
Spinocerebellar Ataxia 13	Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressi...	OMIM:605259
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Dacryocystitis, Urinary bladder inflammation, Chronic kidney di...	ORPHA:449395
Tetrasomy 15Q26	Kyphoscoliosis, Horseshoe kidney, Camptodactyly, Downslanted palpebral fissures, Hydronephrosis	OMIM:614846
Intellectual Disability-Developmental Delay-Contractures Syndrome	Oculomotor apraxia, Kyphosis, Scoliosis	ORPHA:3454
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis, Impaired distal proprioception, Impaired distal vibration se...	OMIM:601455
Arthrogryposis Multiplex Congenita 5	Inguinal hernia, Kyphoscoliosis, Short neck, Akinesia, Flexion contracture, Elbow flexion contrac...	OMIM:618947
Ceroid Lipofuscinosis, Neuronal, 8	Loss of ambulation, Ataxia, Myoclonus	OMIM:600143
Amyotrophic Lateral Sclerosis 2, Juvenile	Clonus, Urinary incontinence, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial ...	OMIM:205100
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, F...	OMIM:613330
Sialidosis Type 2	Inguinal hernia, Ataxia, Tremor, Kyphosis, Flexion contracture, Umbilical hernia, Nephropathy	ORPHA:87876
Atypical Rett Syndrome	Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon...	ORPHA:3095
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Charcot-Marie-Tooth Disease, Axonal, Type 2F	Steppage gait, Claw hand deformity, Fasciculations, Distal sensory impairment	OMIM:606595
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Glo...	ORPHA:2260
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr...	ORPHA:1145
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic aciduria, Hypertonia, Gait disturbance, Hyperkinetic movements, Homocystinuria	OMIM:236270
Emanuel Syndrome	Sacral dimple, Multiple joint contractures, Hooded eyelid, Inguinal hernia, Unilateral renal agen...	ORPHA:96170
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo...	OMIM:607060
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia	OMIM:612016
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)	Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:162350
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Ataxia, Babinski sign, Gait ataxia, Elevated urine acetoacetic acid level, 3-Methylglutaconic aci...	OMIM:620089
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Hernia, Kyphoscoliosis	ORPHA:300179
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Glomerular sclerosis, Nephropathy, Hemiparesis, Proteinuria	ORPHA:247691
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiple...	OMIM:618484
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation	ORPHA:209335
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Abnormal pyramida...	ORPHA:363400
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Ataxia, Urinary incontinence, Myoclonus, Dystonia, Spasticity	OMIM:620094
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Autosomal Recessive Spastic Paraplegia Type 75	Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr...	ORPHA:459056
Systemic Sclerosis	Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Chronic kidney d...	ORPHA:90291
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor	OMIM:608105
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia...	ORPHA:85450
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, D...	OMIM:232200
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia	OMIM:614867
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment	ORPHA:36387
Early-Onset Lafora Body Disease	Ataxia, Confusion, Spastic tetraparesis, Myoclonus, Mental deterioration	ORPHA:324290
Intellectual Developmental Disorder, X-Linked 12	Tremor, Cryptorchidism, Hyperkinetic movements, Gait disturbance, Microphallus, Spasticity	OMIM:300957
Amyotrophic Lateral Sclerosis 5, Juvenile	Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Fasciculations, Spasticity	OMIM:602099
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Spastic Paraplegia 79B, Autosomal Recessive	Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho...	OMIM:615491
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Spinocerebellar Ataxia 10	Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ata...	OMIM:603516
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia	OMIM:618497
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Basal...	ORPHA:79434
Neuraminidase Deficiency	Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary...	OMIM:256550
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Gait disturbance	ORPHA:1875
Restless Legs Syndrome, Susceptibility To, 1	Paresthesia, Myoclonus	OMIM:102300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati...	OMIM:162000
Glycogen Storage Disease Xi	Rigidity, Myoglobinuria, Renal insufficiency	OMIM:612933
Classic Galactosemia	Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur...	ORPHA:79239
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Thoracic scoliosis, Hypospadias, Kyphoscoliosis, Short neck, Hemolytic-uremi...	OMIM:611209
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Abnormal posturing, Increased susceptibility to fractures	OMIM:304700
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Arthrogryposis, Distal, Type 3	Epicanthus, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Camptodact...	OMIM:114300
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Inability to walk, Stage 5 chr...	OMIM:166300
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity	OMIM:607694
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Creutzfeldt-Jakob Disease	Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia	OMIM:123400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Epicanthus, Broad-based gait, Dorsocervical fat pad, Kyphoscoliosis, Short neck, Synophrys, Scoli...	ORPHA:391408
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Kyphoscoliosis, Abnormal pyramidal sign, Spastic paraparesis, Joint cont...	OMIM:260600
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Spasticity, Gait disturbance, Scoliosis	ORPHA:2429
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Charcot-Marie-Tooth Disease, Type 4B2	Difficulty walking, Steppage gait, Kyphoscoliosis, Distal sensory impairment	OMIM:604563
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Kyphoscoliosis	OMIM:600384
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Microphthalmia, Syndromic 13	Kyphoscoliosis, Ptosis	OMIM:300915
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Dyst...	OMIM:168605
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance, Distal sensory impairment	OMIM:118300
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Elbow flexion contracture, Thoracic ...	ORPHA:206546
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Melas	Abnormal central motor function, Proteinuria, Ataxia, Hypogonadotropic hypogonadism, Hemiparesis,...	ORPHA:550
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Dystonia 15, Myoclonic	Writer's cramp, Myoclonus, Dystonia	OMIM:607488
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Heparan sulfate excretion in urine, Synophrys, Ovoid thoracolumbar vertebrae, Her...	OMIM:252930
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Kyphoscoliosis, ...	ORPHA:35173
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Musculocontractural Ehlers-Danlos Syndrome	Abnormality of the cervical spine, Inguinal hernia, Cervical kyphosis, Kyphoscoliosis, Dysesthesi...	ORPHA:2953
Glycine Encephalopathy 1	Hyperglycinuria, Myoclonus	OMIM:605899
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Distal sensory impairment	OMIM:607734
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga...	OMIM:613280
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig...	ORPHA:225154
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Epilepsy, Progressive Myoclonic, 10	Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Dementia, Myoclonus, ...	OMIM:616640
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Flexion contracture, Atr...	ORPHA:158684
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Ataxia-Telangiectasia-Like Disorder	Ataxia, Hypergonadotropic hypogonadism, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myocl...	ORPHA:251347
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc...	ORPHA:442835
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, Gait disturbance, Upper limb spasticity, Micropenis, Decreased te...	ORPHA:457240
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Kyphosis	OMIM:618392
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, C...	OMIM:618363
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Juvenile Amyotrophic Lateral Sclerosis	Clonus, Urinary incontinence, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, Ata...	ORPHA:300605
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Upslanted palpebral fissure, Impaired tactile sensation, Hypertonia,...	OMIM:619092
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ...	OMIM:614487
48,Xxyy Syndrome	Epicanthus, Hypoplasia of penis, Ataxia, Hypergonadotropic hypogonadism, Abnormal dental enamel m...	ORPHA:10
Spinocerebellar Ataxia 27A	Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula...	OMIM:193003
Thyrocerebroretinal Syndrome	Slurred speech, Nephritis, Myoclonus, Ataxia	OMIM:274240
Arthrogryposis, Distal, Type 2A	Short neck, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flexion contracture, Cr...	OMIM:193700
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome	Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo...	ORPHA:254343
Alexander Disease Type Ii	Ataxia, Rigidity, Babinski sign, Spasticity, Scoliosis, Spastic paraparesis, Palatal tremor, Urin...	ORPHA:363722
Intellectual Developmental Disorder, Autosomal Recessive 39	Synophrys, Kyphoscoliosis	OMIM:615541
Dysspondyloenchondromatosis	Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly	ORPHA:85198
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Somatic sensory dysfunction, Urinary incontinence, Impaired pain se...	ORPHA:101085
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Autoinflammatory-Pancytopenia Syndrome	Lipodystrophy, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:619858
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Loss of ability to walk in early childhood, Inability to walk, Methylmalonic aciduria, Athetosis,...	OMIM:612073
Microtriplication 11Q24.1	Speech apraxia, Short neck, Synophrys, Upslanted palpebral fissure, Hyperkinetic movements, Long ...	ORPHA:289522
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Choreoathetosis, Lumbar kyphoscoliosis, Dystonia, Ptosis	OMIM:619422
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity	OMIM:617493
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Flexion contracture, Kyphoscoliosis	OMIM:607855
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Steppage gait, Kyphoscoliosis, Distal sensory impairment	OMIM:118220
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Renal tubu...	ORPHA:436271
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Spasticity, Ataxia, Myoclonus	OMIM:545000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achille...	OMIM:607155
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Enuresis nocturna, Platyspondyly, Long eyelashes, Scoliosis, Long palpebral fissu...	OMIM:614856
Congenital Disorder Of Glycosylation, Type In	Spasticity, Ataxia, Myoclonus, Short neck	OMIM:612015
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Glycogen Storage Disease Ib	Proteinuria, Nephrolithiasis, Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, D...	OMIM:232220
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con...	OMIM:156530
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture, Knee flexion contracture, Abn...	OMIM:610758
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ank...	OMIM:609541
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Waddling gait, Camptodactyly of finger, Kyphoscoliosis, Cigarette-paper scars, Irregular vertebra...	OMIM:612350
X-Linked Intellectual Disability, Snyder Type	Unilateral ptosis, Hypospadias, Involuntary movements, Kyphoscoliosis, Ectopic kidney, Sparse eye...	ORPHA:3063
Charcot-Marie-Tooth Disease Type 4B2	Kyphoscoliosis, Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor ...	ORPHA:99956
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu...	OMIM:616586
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Gait imbalance, Shuffli...	ORPHA:75567
Cerebrooculofacioskeletal Syndrome 1	Kyphoscoliosis, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Knee flexion cont...	OMIM:214150
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Spastic diplegia, Choreoathetosis, Scoliosis, S...	ORPHA:2715
Progressive Myoclonic Epilepsy With Dystonia	Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy...	ORPHA:352596
Mitochondrial Complex I Deficiency, Nuclear Type 12	Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls	OMIM:301020
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Hypospadias, Renal agenesis, Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae,...	OMIM:301040
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste...	OMIM:616505
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Decreased fertility, Fasciculations	OMIM:313200
Spinocerebellar Ataxia 1	Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep...	OMIM:164400
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Kyphoscoliosis, Distal sensory impairment	OMIM:607831
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Spinocerebellar Ataxia Type 42	Resting tremor, Urinary incontinence, Upper limb postural tremor, Unsteady gait, Babinski sign, G...	ORPHA:458803
Ataxia With Vitamin E Deficiency	Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch...	OMIM:277460
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6	Fasciculations, Difficulty walking	OMIM:615575
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Ddost-Cdg	Tremor, Lipodystrophy, Oromotor apraxia, Nephrotic range proteinuria	ORPHA:300536
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Epicanthus, Tremor, Synophrys, Prominent protruding coccyx, Spastic diplegia, Long eyelashes, Abn...	ORPHA:480907
Infantile Spasms Syndrome	Myoclonus	ORPHA:3451
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Platyspondyly, Scoliosis, Moderate albuminuria, Dentinogenesis imperfecta	OMIM:619269
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)	Ataxia, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:204300
Winchester Syndrome	Kyphosis	OMIM:277950
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence, Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia	OMIM:600795
Dystonia-Deafness Syndrome 1	Generalized dystonia, Oculogyric crisis, Kyphoscoliosis, Leg dystonia, Pseudobulbar paralysis, Lo...	OMIM:607371
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder	OMIM:619556
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Ceroid Lipofuscinosis, Neuronal, 2	Ataxia, Myoclonus	OMIM:204500
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hypertonia, Hydroureter, Hydronephrosis, Myoclonus	OMIM:618240
Convulsive Disorder, Familial, With Prenatal Or Early Onset	Myoclonus	OMIM:217200
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Kyphosis, Chronic kidney disease, Vesicou...	ORPHA:261222
Hypocalcemia, Autosomal Dominant 1	Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Paresthesia, Decreased glomerular filtration rate	OMIM:601198
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Babinski sign, Flexion co...	OMIM:300232
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Proteinuria, Ataxia, Hypergonadotropic hypogonadism, Almond-shap...	OMIM:212065
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Short neck, Inability to walk, Vertebral wedging, Decreased anterioposterior diam...	ORPHA:3101
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Spinocerebellar Ataxia Type 13	Torticollis, Urinary incontinence, Impaired distal vibration sensation, Limb ataxia, Titubation, ...	ORPHA:98768
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Hyperkinetic movements	ORPHA:397933
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Inguinal hernia	OMIM:261550
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Tyrosinemia, Type I	Renal insufficiency, Periodic paralysis, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular scl...	OMIM:276700
Hsd10 Disease, Infantile Type	Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkinetic movement...	ORPHA:391428
Hemifacial Atrophy, Progressive	Kyphosis, Ataxia	OMIM:141300
Coffin-Siris Syndrome 6	Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Kyphoscoliosis	OMIM:617808
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Speech apraxia, Ataxia, Dysmetria, Intention tremor	OMIM:619352
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Camptodactyly of finger, Kyphoscoliosis	OMIM:610756
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Epicanthus, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Bilateral ptosis, In...	ORPHA:300570
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Babinski sign, Spasticity, Clumsiness, Gait ataxia, Progress...	ORPHA:309256
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavior	ORPHA:1020
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Steppage gait, Kyphoscoliosis, Distal sensory impairment	OMIM:118200
Anti-Glomerular Basement Membrane Disease	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:375
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic parapares...	ORPHA:313772
Schindler Disease, Type I	Increased urinary O-linked sialopeptides, Spasticity, Myoclonus	OMIM:609241
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Ataxia, Involuntary movements, Limb joint contracture, Rigidity, Chorea, Babinski sign, Clumsines...	OMIM:617282
Thrombotic Thrombocytopenic Purpura	Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria	ORPHA:54057
Continuous Spikes And Waves During Sleep	Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness	ORPHA:725
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Kyphoscoliosis, Methioninuria, Scoliosis, Biconcave vertebral bodies, Homocystin...	OMIM:236200
Developmental And Epileptic Encephalopathy 23	Double eyebrow, Telecanthus, Synophrys, Long eyelashes, Myoclonus, Thick eyebrow	OMIM:615859
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,...	ORPHA:99027
Spinocerebellar Ataxia 36	Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, Tongue fasciculation...	OMIM:614153
Preeclampsia	Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney	ORPHA:275555
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Hajdu-Cheney Syndrome	Epicanthus, Telecanthus, Hypospadias, Inguinal hernia, Kyphoscoliosis, Short neck, Cryptorchidism...	OMIM:102500
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Developmental And Epileptic Encephalopathy 16	Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia	OMIM:615338
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Hemivertebrae, Punctate vertebral c...	OMIM:302960
Nystagmus, Myoclonic	Myoclonus	OMIM:310800
Chst3-Related Skeletal Dysplasia	Waddling gait, Highly arched eyebrow, Kyphoscoliosis, Sparse eyebrow, Flexion contracture, Abnorm...	ORPHA:263463
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia	OMIM:619065
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Spinocerebellar Ataxia Type 1	Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Bradykinesia, Progre...	ORPHA:98755
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Decreased glomerular filtration rate	OMIM:242530
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Kyphosis, Cryptorchidism, Babinski sign, Spasticity, Myoclonus, Scoliosis, Ev...	ORPHA:364028
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Synophrys, Premature ovarian insufficiency, Kyphoscoliosis, Scoliosis	ORPHA:391307
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Myoglobinuria, Renal insufficiency, Ataxia	ORPHA:713
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Proteinuria, Camptodactyly of finger, Gait disturbance, Nephropathy	ORPHA:2774
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Gait distu...	ORPHA:488627
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Scoliosis, Loss of ambulation	OMIM:618241
Myh9-Related Disease	Renal insufficiency, Proteinuria, Menorrhagia, Nephropathy, Nephritis	ORPHA:182050
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Frontal lobe de...	ORPHA:97355
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Huntington Disease	Dystonia, Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Ba...	ORPHA:399
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hematuria, Xanthelasma, Focal segmental glomerulosclerosis, Dec...	OMIM:232240
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Epicanthus, Sparse eyelashes, Proteinuria, Sparse eyebrow, Hematuria, Tubulointerstitial nephriti...	OMIM:616901
19P13.3 Microduplication Syndrome	Epicanthus, Telecanthus, Unilateral cryptorchidism, Kyphoscoliosis, Upslanted palpebral fissure, ...	ORPHA:447980
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinom...	ORPHA:79431
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Young-Onset Parkinson Disease	Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Bradykinesia, Dementia...	ORPHA:2828
Developmental And Epileptic Encephalopathy 27	Chorea, Myoclonus, Spasticity, Dystonia	OMIM:616139
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp...	OMIM:614381
Paternal Uniparental Disomy Of Chromosome 1	Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel...	ORPHA:251004
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Flexion contracture, Ataxia, Myoclonus	OMIM:256730
Developmental And Epileptic Encephalopathy 40	Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis	OMIM:617065
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Babinski sign, Flexion contracture, Myoclonus, Truncal ataxia, Spasticity, Ptosis	OMIM:252011
Clcn4-Related X-Linked Intellectual Disability Syndrome	Lower limb spasticity, Inguinal hernia, Cryptorchidism, Chorea, Unsteady gait, Progressive cerebe...	ORPHA:485350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Hypertonia, Limb tremor, Myoclonus	OMIM:300699
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Spastic diplegia, Irregular...	OMIM:607944
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hemiplegia, Kyphosis, Gait disturbance, Scoliosis	ORPHA:2181
Progressive Pseudorheumatoid Dysplasia	Waddling gait, Camptodactyly of finger, Kyphoscoliosis, Joint contracture of the hand, Platyspond...	OMIM:208230
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Spastic tetraplegia, Ataxia, Myoclonus, Erratic myoclonus	OMIM:619971
Mevalonic Aciduria	Ataxia, Kyphoscoliosis, Progressive cerebellar ataxia, Downslanted palpebral fissures, Elevated u...	OMIM:610377
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro...	ORPHA:18
Developmental And Epileptic Encephalopathy 1	Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Erratic myo...	OMIM:308350
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G...	ORPHA:206594
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Abnormal pyramidal sign, Renal cyst, Opisthotonus, Nephrocalcinosis, Choreoa...	ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Epicanthus, Hypergonadotropic hypogonadism, Tremor, Hypoesthesia, P...	OMIM:619737
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Congenital diaphragmatic hernia, Sparse eyebrow, Tremor, Hemivertebrae, Scolios...	ORPHA:370079
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Short neck, Kyphoscoliosis, Cryptorchidism, Synophrys, Long eyelashes, Lon...	OMIM:615803
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Horner syndrome, A...	OMIM:256700
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Nephrotic syndrome, Focal seg...	OMIM:614748
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, 3-Methylglutaconic aciduria, ...	OMIM:616271
Encephalopathy Due To Prosaposin Deficiency	Myoclonus, Dystonia	ORPHA:139406
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Impaired pain sensation, Kyphoscoliosis, Cryptorchidism, Upper e...	ORPHA:412035
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, Aminoaciduria,...	OMIM:220110
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Inguinal hernia, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasi...	OMIM:614376
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Monosomy 18P	Epicanthus, Generalized dystonia, Kyphoscoliosis, Short neck, Ptosis	ORPHA:1598
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Pontocerebellar Hypoplasia, Type 1E	Elbow flexion contracture, Myoclonus, Knee flexion contracture	OMIM:619303
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Inability to walk, Kyphosis, Scoliosis, Difficulty walking	OMIM:611890
Joint Laxity, Short Stature, And Myopia	Umbilical hernia, Inguinal hernia, Cervical kyphosis, Kyphoscoliosis	OMIM:617662
Parasomnia, Sleep Bruxism Type	Myoclonus	OMIM:606840
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Pure Mitochondrial Myopathy	Waddling gait, Lumbar hyperlordosis, Recurrent myoglobinuria, Bilateral ptosis, Scoliosis, Loss o...	ORPHA:254854
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Frontotemporal Dementia With Motor Neuron Disease	Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres...	ORPHA:275872
Cockayne Syndrome Type 1	Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, Scarring, Foot joint contracture...	ORPHA:90321
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Cerebral palsy, Proteinuria, Ataxia, Hemiplegia/hemiparesis,...	ORPHA:36412
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Inability to walk, Spastic tetraplegia, Contractures of the large joints, Steppag...	ORPHA:324410
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Amyloidosis, Hereditary, Transthyretin-Related	Ptosis, Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H...	OMIM:105210
Leigh Syndrome	Multiple joint contractures, Chorea, Choreoathetosis, Complex organic aciduria, Ataxia, Renal tub...	ORPHA:506
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Ataxia, Urinary incontinence, Loss of ability to walk in first decade, Flexion contracture, Hyper...	OMIM:300243
Nail-Patella Syndrome	Back pain, Impaired temperature sensation, Flexion contracture, Knee flexion contracture, Nephrit...	ORPHA:2614
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Proteinuria, Camptodactyly of finger, Hiatus hernia, Hem...	ORPHA:2065
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p...	ORPHA:88628
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia...	OMIM:617854
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Ataxia, Exercise-induced myoglobinuria	OMIM:300653
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim...	ORPHA:48818
Charcot-Marie-Tooth Disease, Type 4A	Inability to walk by childhood/adolescence, Kyphoscoliosis, Distal sensory impairment	OMIM:214400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Neurogenic bladder, Low back pain, Hypospadias, Ur...	ORPHA:573278
Epilepsy, Idiopathic Generalized, Susceptibility To, 7	Myoclonus	OMIM:604827
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Alpers-Huttenlocher Syndrome	Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa...	ORPHA:726
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Ar...	OMIM:613404
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Sneddon Syndrome	Mental deterioration, Hemiplegia, Tremor, Impaired distal tactile sensation	OMIM:182410
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypertonia, Unsteady gait, Myoclonus	OMIM:610090
Tonne-Kalscheuer Syndrome	Broad-based gait, Hypospadias, Congenital diaphragmatic hernia, Tremor, Cryptorchidism, Spasticit...	OMIM:300978
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep...	OMIM:606002
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation	ORPHA:544254
Pontocerebellar Hypoplasia Type 4	Arthrogryposis multiplex congenita, Hypertonia, Myoclonus	ORPHA:166063
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Macroorchidism, Oligozoospermia	ORPHA:3000
Sjögren-Larsson Syndrome	Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity	ORPHA:816
Pontocerebellar Hypoplasia, Type 1A	Ataxia, Limb ataxia, Hand tremor, Congenital contracture, Tongue fasciculations, Fasciculations	OMIM:607596
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Somatic sensory dysfunction, Steppage gait, Fasciculations, Impaired distal tactile sensation	OMIM:600882
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Fasciculations, Hyd...	OMIM:620327
Pontocerebellar Hypoplasia, Type 7	Epicanthus, Ataxia, Cryptorchidism, Synophrys, Spastic paraplegia, Spasticity, Opisthotonus, Chor...	OMIM:614969
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ...	ORPHA:447753
Xfe Progeroid Syndrome	Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Poor coordination, Absence of ...	OMIM:610965
Cystinosis	Renal insufficiency, Proteinuria, Abnormal pyramidal sign, Renal tubular dysfunction, Aminoacidur...	ORPHA:213
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Pyruvate Dehydrogenase Deficiency	Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Upslanted palpebral fissure,...	ORPHA:765
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus	OMIM:619780
Monosomy 18Q	Epicanthus, Kyphoscoliosis, Bilateral cryptorchidism, Poor coordination, Choreoathetosis, Atlanto...	ORPHA:1600
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypospadias, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Hypogonadism, Micropenis, Decreased t...	OMIM:300354
Developmental And Epileptic Encephalopathy 72	Inability to walk, Hyperkinetic movements	OMIM:618374
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria, Ataxia	OMIM:603585
X-Linked Intellectual Disability, Cabezas Type	Epicanthus, Hypoplasia of penis, Broad-based gait, Inguinal hernia, Camptodactyly of finger, Shor...	ORPHA:85293
Amish Nemaline Myopathy	Tremor	ORPHA:98902
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Cryptorchidism, Babinski sign, Spastic tetraplegia, Spasticity, Opisthoto...	OMIM:619847
Myopathy, Mitochondrial, And Ataxia	Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Primary ame...	OMIM:617675
Ohdo Syndrome	Epicanthus, Proteinuria, Sparse eyebrow, Cryptorchidism, Blepharophimosis, Ptosis	OMIM:249620
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Loss of ability to walk in early childhood, Unsteady gait, Babinski sign, Spastic diplegi...	ORPHA:401866
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Ataxia, Tremor, Testicular atrophy, Hydronephrosis, Ptosis	OMIM:222300
Neurodevelopmental Disorder With Spasticity And Poor Growth	Epicanthus, Generalized dystonia, Ataxia, Clonus, Synophrys, Oculomotor apraxia, Babinski sign, A...	OMIM:618076
Joubert Syndrome With Renal Defect	Renal insufficiency, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Scoliosis, Oculomot...	ORPHA:220497
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Tip-toe g...	ORPHA:98914
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Tip-toe g...	ORPHA:590
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Kyphoscoliosis, Horseshoe kidney	OMIM:163200
O'Sullivan-Mcleod Syndrome	Tremor, Somatic sensory dysfunction, Fasciculations	ORPHA:99965
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D...	OMIM:203500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Polyuria, Proximal tubulopathy, Myoclonus, Ptosis	OMIM:560000
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Truncal ataxia, Hyperkinetic movements, Difficulty walking, Scoliosis	ORPHA:369847
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Epicanthus, Kyphoscoliosis, Sparse eyebrow, Synophrys, Downslanted palpebral fissures	OMIM:620075
Ataxia-Telangiectasia	Ataxia, Tremor, Gait disturbance, Cognitive impairment, Spasticity	ORPHA:100
Leukodystrophy, Hypomyelinating, 10	Inability to walk, Babinski sign, Prominent eyelashes, Upslanted palpebral fissure, Hyperkinetic ...	OMIM:616420
Ceroid Lipofuscinosis, Neuronal, 3	Loss of ambulation, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus	OMIM:204200
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Spasticity	OMIM:221770
48,Xxxy Syndrome	Decreased testicular size, Epicanthus, Hypoplasia of penis, Inguinal hernia, Abnormal dental enam...	ORPHA:96263
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Spastic tetraplegia	OMIM:618237
Crisponi/Cold-Induced Sweating Syndrome 1	Kyphoscoliosis, Short neck, Elbow flexion contracture, Opisthotonus, Camptodactyly	OMIM:272430
Pontocerebellar Hypoplasia, Type 4	Spasticity, Hypertonia, Myoclonus, Congenital contracture	OMIM:225753
Riboflavin Transporter Deficiency	Ataxia, Tremor, Hypogonadism, Myoclonus, Ptosis	ORPHA:97229
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Hydrocele testis, Myoclonus, Tetraparesis, Spasticity	OMIM:618972
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Short neck, Spinal rigidity, Kyphosis, Scoliosis, Frequent falls	ORPHA:75840
Hereditary Hyperekplexia	Ataxia, Hiatus hernia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Hernia,...	ORPHA:3197
Ogden Syndrome	Global glomerulosclerosis, Epicanthus, Torticollis, Inguinal hernia, Abnormal eyelid morphology, ...	OMIM:300855
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Umbilical hernia, Downslanted palpebra...	ORPHA:2143
Xeroderma Pigmentosum, Complementation Group C	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma, Actinic keratosis,...	OMIM:278720
Spondylometaphyseal Dysplasia, Kozlowski Type	Waddling gait, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion cont...	OMIM:184252
Central Core Disease	Multiple joint contractures, Kyphoscoliosis	ORPHA:597
Neurogenic Arthrogryposis Multiplex Congenita	Hip contracture, Ankle flexion contracture, Flexion contracture, Elbow flexion contracture, Knee ...	ORPHA:1143
Baralle-Macken Syndrome	Inability to walk, Spasticity, Kyphosis	OMIM:619255
Peho-Like Syndrome	Epicanthus, Myoclonus	OMIM:617507
Episodic Ataxia, Type 5	Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia	OMIM:613855
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Incoordination, Dystonia, Frequent falls, Tre...	ORPHA:845
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Babinski sign, Spasticity, Clumsiness, Progressive gait atax...	ORPHA:309263
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralysis, Tubulointerstitial nep...	ORPHA:358
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,...	ORPHA:97349
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Renal agenesis, Ataxia, Hypogonadotropic hypogonadism, Tremor, ...	ORPHA:478
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop...	ORPHA:93284
Myoclonus, Intractable, Neonatal	Athetosis, Chorea, Myoclonus, Ptosis	OMIM:617235
Inclusion Body Myopathy And Brain White Matter Abnormalities	Low back pain, Babinski sign, Fasciculations, Ptosis	OMIM:619733
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Duplicated collecting system, Hip contracture, Ataxia, Kyphoscoliosis, Inability to walk, Knee fl...	ORPHA:488642
Becker Muscular Dystrophy	Abnormal urinary color, Tip-toe gait, Falls, Difficulty walking, Myoglobinuria	ORPHA:98895
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Gait ataxia, Upslanted palpebral ...	ORPHA:457359
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Dementia, Low frustra...	ORPHA:411602
Robinow Syndrome, Autosomal Dominant 2	Sacral dimple, Kyphoscoliosis, Cryptorchidism, Upslanted palpebral fissure, Camptodactyly, Umbili...	OMIM:616331
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Ptosis	OMIM:312170
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Hemivertebrae, Stage 5 chroni...	OMIM:118450
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Marinesco-Sjogren Syndrome	Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity	OMIM:248800
Paternal Uniparental Disomy Of Chromosome 5	Kyphoscoliosis, Renal duplication	ORPHA:96190
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Lacticaciduria, Hypergly...	OMIM:605711
Parkinsonian-Pyramidal Syndrome	Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:171695
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Absent urinary u...	OMIM:252150
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric aciduria, Organic ...	OMIM:246450
Developmental And Epileptic Encephalopathy 46	Tremor, Limb hypertonia	OMIM:617162
Acrorenal-Mandibular Syndrome	Epicanthus, Renal agenesis, Kyphoscoliosis, Congenital diaphragmatic hernia, Abnormality of the u...	OMIM:200980
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Progressive Myoclonic Epilepsy Type 3	Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, Myoclonus, Limb myoclonus	ORPHA:263516
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Progressive neurologic deterioration	ORPHA:276608
Nail-Patella Syndrome	Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Antecubita...	OMIM:161200
Multiple System Atrophy 1, Susceptibility To	Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra...	OMIM:146500
49,Xxxxy Syndrome	Decreased testicular size, Epicanthus, Hypoplasia of penis, Abnormal dental enamel morphology, Sh...	ORPHA:96264
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor	OMIM:619790
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Impaired distal vibration sensation, Distal sensory impairment, Steppage gait, Tip-toe gait, Fasc...	OMIM:614436
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ...	ORPHA:276399
Myoclonic Epilepsy Of Unverricht And Lundborg	Ataxia, Myoclonus	OMIM:254800
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Ataxia, Myoclonus, Ptosis	OMIM:618225
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Telecanthus, Proteinuria, Lumbar hyperlordosis, Short neck, Heparan sulfate excretion...	ORPHA:505248
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Intention tremor, Myoclonus, Ptosis	OMIM:610539
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Hyperlordosis, Abnormality of the vertebral column, Fasciculations, Urinary bladde...	ORPHA:52430
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Tremor, Depression, Mental deterioration, Memory impairment	ORPHA:79095
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Pontocerebellar Hypoplasia, Type 1D	Epicanthus, Multiple joint contractures, Short neck, Flexion contracture, Tongue fasciculations, ...	OMIM:618065
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Fetal Akinesia Deformation Sequence 4	Kyphosis, Short neck	OMIM:618393
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Difficulty walking, Scoliosis, Frequent ...	OMIM:606612
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Myopathy With Extrapyramidal Signs	Epicanthus, Ataxia, Clonus, Short neck, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality ...	OMIM:615673
Machado-Joseph Disease Type 1	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ...	ORPHA:276238
Machado-Joseph Disease Type 2	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ...	ORPHA:276241
Epilepsy, Idiopathic Generalized, Susceptibility To, 15	Myoclonus, Eyelid myoclonus	OMIM:618357
Orthostatic Hypotension 2	Decreased glomerular filtration rate	OMIM:618182
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Abnormal posturing, Failure to thrive	OMIM:614857
De Barsy Syndrome	Epicanthus, Inguinal hernia, Lipodystrophy, Kyphoscoliosis, Cryptorchidism, Athetosis, Progressiv...	ORPHA:2962
Mepan Syndrome	Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonus, Limb dystoni...	ORPHA:508093
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, Intention tremor	OMIM:618356
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Cryptorchidism, Moderate albuminuria, Hypogonadism, Ptosis	OMIM:614231
Salt And Pepper Developmental Regression Syndrome	Choreoathetosis, Myoclonus	OMIM:609056
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Paresthesia, Fasciculations, Lipiduria	OMIM:301500
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt...	ORPHA:261529
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Limb hypertonia	OMIM:617710
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Symblepharon, Trichiasis, Dysuria, Renal tubular epithelial necrosis, ...	ORPHA:95455
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Nephrocalcinosis, Joint contracture, Kyphoscoliosis	OMIM:618005
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive	Fasciculations, Distal sensory impairment	OMIM:137200
Carpenter Syndrome	Cryptorchidism, Umbilical hernia, Kyphoscoliosis	ORPHA:65759
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Kyphosis	OMIM:618138
Nipah Virus Disease	Tremor, Myoclonus	ORPHA:99825
Oromandibular Dystonia	Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ...	ORPHA:93958
D-Glyceric Aciduria	Chorea, Hyperglycinuria, Spasticity, Myoclonus	ORPHA:941
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Dystonia, Ataxia, Hyperlordosis, Tremor, Inability to walk, Chorea...	OMIM:615356
Leopard Syndrome 1	Epicanthus, Hypospadias, Unilateral renal agenesis, Short neck, Kyphoscoliosis, Cryptorchidism, D...	OMIM:151100
Lymphedema-Distichiasis Syndrome	Ptosis, Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Renal duplication, Tubul...	ORPHA:33001
Myopathy, Centronuclear, 2	Waddling gait, Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Tremor, Microscopic hematuria, Abnormal renal physiology	OMIM:274150
Abetalipoproteinemia	Impaired vibratory sensation, Broad-based gait, Ataxia, Kyphoscoliosis, Impaired distal proprioce...	ORPHA:14
Epilepsy, Idiopathic Generalized, Susceptibility To, 9	Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia	OMIM:607682
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations	OMIM:604484
Pelizaeus-Merzbacher Disease	Ataxia, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis, Spasticity	ORPHA:702
Mitochondrial Complex I Deficiency, Nuclear Type 31	Myoclonus, Dysmetria	OMIM:618251
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Dystonia, Ataxia, Urinary incontinence, Sparse eyebrow, Tetraplegia, Upslante...	ORPHA:496641
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney	ORPHA:369
Tatton-Brown-Rahman Syndrome	Kyphoscoliosis, Cryptorchidism, Narrow palpebral fissure, Umbilical hernia, Thick eyebrow	ORPHA:404443
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Ptosis, Epicanthus, Inguinal hernia, Kyphoscoliosis, Bladder diverticulum, Platyspondyly, Progres...	OMIM:225400
Neutral Lipid Storage Disease With Myopathy	Fasciculations, Difficulty walking	OMIM:610717
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Kyphoscoliosis, Atypica...	OMIM:601701
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Tremor, Methylmalo...	OMIM:277400
Ullrich Congenital Muscular Dystrophy 2	Flexion contracture, Kyphoscoliosis	OMIM:616470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Lower limb spasticity, Babinski sign, Ankle clonus, Fasciculations, Tetraparesis, Difficulty walk...	OMIM:613954
11Q22.2Q22.3 Microdeletion Syndrome	Abnormal social behavior	ORPHA:444002
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Developmental And Epileptic Encephalopathy 89	Omphalocele, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Upslanted palpebral fiss...	OMIM:619124
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Babinski sign, Gait disturbance, Myoclonus, Apraxia	OMIM:618193
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Juvenile Sialidosis Type 2	Lower limb spasticity, Inguinal hernia, Ataxia, Abnormality of the kidney, Abnormal form of the v...	ORPHA:93399
Developmental And Epileptic Encephalopathy 4	Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia	OMIM:612164
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Chorea, Babinski sign, Spasticity, Clumsiness, Progressive s...	ORPHA:309271
Developmental And Epileptic Encephalopathy 109	Crouch gait, Myoclonus, Spasticity, Gait ataxia	OMIM:620145
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Involuntary movements, Action tremor, Heparan sulfate excretion in urine, Cho...	OMIM:615273
Tetanus	Elevated urinary norepinephrine level, Tremor, Rigidity, Elevated urinary epinephrine level, Opis...	ORPHA:3299
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Isaacs Syndrome	Fasciculations, Distal sensory impairment	ORPHA:84142
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Membranoproliferative glomerulonephritis, Microscopic hematuria, Scoliosis, Mode...	OMIM:619525
Myotonia With Skeletal Abnormalities And Mental Retardation	Vertebral wedging, Kyphoscoliosis	OMIM:255710
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cryptorchidism, Hypoplasia of penis, Myoclonus	ORPHA:168593
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Epicanthus, Streak ovary, Hypospadias, Kyphoscoliosis, Cryptorchidism, Micropenis, U...	OMIM:618820
Martin-Probst Syndrome	Epicanthus, Renal insufficiency, Telecanthus, Proteinuria, Cryptorchidism, Narrow palpebral fissu...	OMIM:300519
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Gardner Syndrome	Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Keratoconjunctivitis sicca	ORPHA:91138
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Ketonuria, Spasticity, 3-Methylglutaconic aciduria, Difficulty walking, Myoglobinu...	OMIM:251900
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Cogniti...	ORPHA:25
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Broad-based gait, Kyphoscoliosis, Short neck, Sparse eyebrow, Cryptorchidism, Synophrys, Scoliosi...	OMIM:309583
Non-Functioning Paraganglioma	Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly...	ORPHA:94080
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis	ORPHA:2617
Contractural Arachnodactyly, Congenital	Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Elbow flexion contracture...	OMIM:121050
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Telecanthus, Inability to walk, Synophrys, Long eyelashes, Myoclonus, Thick eyebrow	ORPHA:411986
Spondylometaphyseal Dysplasia, Kozlowski Type	Waddling gait, Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypo...	ORPHA:93314
Gabriele-De Vries Syndrome	Waddling gait, Telecanthus, Sparse eyebrow, Epiblepharon, Tremor, Cryptorchidism, Tip-toe gait, D...	OMIM:617557
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Waddling gait, Epicanthus, Inguinal hernia, Kyphoscoliosis, Atlantoaxial instability, Bladder div...	OMIM:614557
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia, Primary amenorrhea	OMIM:191830
Sandhoff Disease	Exaggerated startle response, Ataxia, Urinary incontinence, Impaired temperature sensation, Impot...	OMIM:268800
Distal Deletion 12Q	Telecanthus, Unilateral cryptorchidism, Kyphoscoliosis, Ectopic kidney, Short neck, Impaired pain...	ORPHA:96149
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance	ORPHA:83629
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Spasticity	ORPHA:352490
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Epicanthus, Lumbar hyperlordosis, Abnormal location of the eyebrow, Ataxia, Dystonia, Progressive...	ORPHA:522077
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Myoglobinuria, Difficulty walking, Broad-based gait	ORPHA:119
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Upslanted palpebral fissure, Hypertonia, Myoclonus	OMIM:617290
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Tongue fasciculations,...	OMIM:614922
Episodic Ataxia Type 7	Episodic ataxia, Hyperkinetic movements	ORPHA:209970
Kyphoscoliotic Ehlers-Danlos Syndrome	Epicanthus, Congenital kyphoscoliosis, Inguinal hernia, Kyphoscoliosis, Synophrys, Atlantoaxial i...	ORPHA:536545
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Arima Syndrome	Ptosis, Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuria, Renal corticome...	OMIM:243910
Wilson Disease	Limb dystonia, Hyperphosphaturia, Dystonia, Proteinuria, Poor motor coordination, Tremor, Hypoest...	OMIM:277900
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Cerebral palsy, Hypertonia, Scoliosis	OMIM:615834
Flynn-Aird Syndrome	Kyphosis, Ataxia, Scoliosis, Impaired pain sensation	ORPHA:2047
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil...	OMIM:601104
Serotonin Syndrome	Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D...	ORPHA:43116
Phosphoserine Aminotransferase Deficiency	Hypertonia, Myoclonus	OMIM:610992
12Q14 Microdeletion Syndrome	Ectopic kidney, Tremor, Synophrys, Renal hypoplasia, Horseshoe kidney, Scoliosis, Thick eyebrow	ORPHA:94063
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Neurogenic bladder, Myoclonus, Scoliosis, Dystonia	OMIM:617669
Wiedemann-Rautenstrauch Syndrome	Tremor, Synophrys, Wide penis, Hypoplastic vertebral bodies, Hypertonia, Vesicoureteral reflux, D...	ORPHA:3455
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Sparse eyelashes, Sparse eyebrow, Kyphosis, Tremor, In...	OMIM:617988
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Kyphoscoliosis, Flexion contracture, Blepharophimosis, Short palpeb...	OMIM:608149
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Gait imbalance, Tongue fascicul...	OMIM:211530
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Loss of ambulation, Tongue fasciculations, Fasciculations	OMIM:613435
Acrootoocular Syndrome	Epicanthus, Kyphoscoliosis, Grayish enamel, Blepharophimosis, Downslanted palpebral fissures	ORPHA:2980
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Periodic paralysis	OMIM:613239
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Renal Fanconi syndrome, Proteinuria, Glycosuria	ORPHA:263455
Xeroderma Pigmentosum, Complementation Group F	Tremor, Dementia, Ataxia	OMIM:278760
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Lennox-Gastaut Syndrome	Falls, Myoclonus	ORPHA:2382
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Inguinal hernia, Highly arched eyebrow...	ORPHA:1454
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Thoracic scoliosis, Sacral dimple, Widened atrophic scar, Inguinal hernia, Kyphos...	ORPHA:536532
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cryptorchidism, Multiple bladder diverticula, Blepharophimosis, Ptosis	ORPHA:2728
Geroderma Osteodysplasticum	Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Bic...	OMIM:231070
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor	OMIM:605355
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Opisthotonus, Mild proteinuria	OMIM:619685
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Inguinal hernia, Streak ovary, Hypospadias, Nephroblastoma, Kyphoscolios...	ORPHA:798
Marbach-Schaaf Neurodevelopmental Syndrome	Speech apraxia, Epicanthus, Torticollis, Hemidystonia, Tremor, Enuresis nocturna, Upslanted palpe...	OMIM:619680
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Gait disturbance, Fasciculations	OMIM:608030
Cornelia De Lange Syndrome 1	Inguinal hernia, Hypospadias, Proteinuria, Highly arched eyebrow, Curly eyelashes, Ectopic kidney...	OMIM:122470
Mandibuloacral Dysplasia Progeroid Syndrome	Proteinuria, Sparse eyebrow, Flexion contracture, Generalized lipodystrophy, Focal segmental glom...	OMIM:619127
Lesch-Nyhan Syndrome	Nephrolithiasis, Opisthotonus, Nephrocalcinosis, Choreoathetosis, Hyperuricosuria, Abnormality of...	OMIM:300322
Machado-Joseph Disease Type 3	Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ...	ORPHA:276244
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Spasticity, Dementia, Ataxia, Intention tremor	OMIM:117300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia,...	OMIM:616878
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Torticollis, Congenital kyphoscoliosis, Multiple joint contractures, Ovoid verteb...	ORPHA:536467
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Ataxia, Babinski sign, Depression, Head tremor, Mental deterioration, Memory impa...	ORPHA:314404
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Broad-based gait, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis	OMIM:181405
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Hyperphosphatasia-Intellectual Disability Syndrome	Epicanthus, Ataxia, Highly arched eyebrow, Short neck, Oculomotor apraxia, Upslanted palpebral fi...	ORPHA:247262
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo...	ORPHA:204
Rett Syndrome	Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity	OMIM:312750
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Entropion, Kyphoscoliosis, Bilateral crypto...	OMIM:617403
Osteogenesis Imperfecta, Type Xi	Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebral compression f...	OMIM:610968
Lamb-Shaffer Syndrome	Abnormal social behavior, Ataxia, Upper motor neuron dysfunction	ORPHA:530983
Dystonia-Aphonia Syndrome	Generalized dystonia, Unsteady gait, Abnormal urinary odor, Gait disturbance, Myoclonus, Oromandi...	ORPHA:412217
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Hypospadias, Camptodactyly of finger, Unilateral renal agenesis, Ank...	ORPHA:468631
Heme Oxygenase 1 Deficiency	Hematuria, Chemosis, Nephritis, Proteinuria	OMIM:614034
Myoclonic-Astatic Epilepsy	Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emotion, Attention deficit hyper...	ORPHA:1942
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Scoliosis	OMIM:618234
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Ane Syndrome	Lipoatrophy, Multiple joint contractures, Hypogonadotropic hypogonadism, Kyphoscoliosis	ORPHA:157954
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Kyphoscoliosis, Elevat...	ORPHA:653
Renal Nutcracker Syndrome	Dyspareunia, Proteinuria, Dysmenorrhea, Hematuria, Renal artery stenosis, Infertility, Microscopi...	ORPHA:71273
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Scoliosis, Short neck	ORPHA:178148
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Simple Cryoglobulinemia	Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki...	ORPHA:91139
Early Myoclonic Encephalopathy	Myoclonus	ORPHA:1935
Legionnaires Disease	Renal insufficiency, Proteinuria, Ataxia, Hematuria, Cellulitis	ORPHA:549
Smith-Mccort Dysplasia 1	Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Argininuria, Spastic dipl...	ORPHA:2203
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Dystonia, Hypospadias, Unsteady gait, Flexion contracture, Methylmalonic aciduria, Choreoathetosi...	ORPHA:17
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Akinesia, Spastic tetraplegia, Hypertonia, Mild proteinuria	OMIM:619147
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Neurogenic bladder, Vocal cord paralysis, Myoclonus, Scoliosis, Dystonia, Spasticity	ORPHA:500144
Congenital Myopathy 13	Telecanthus, Kyphoscoliosis, Cryptorchidism, Flexion contracture, Scoliosis, Blepharophimosis, Do...	OMIM:255995
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Dravet Syndrome	Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina...	ORPHA:33069
Benign Samaritan Congenital Myopathy	Epicanthus, Fasciculations	ORPHA:324581
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Hypertonia, Myoclonus, Vesicoureteral reflux, Spasticity	ORPHA:3078
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Telecanthus, Broad-based gait, Inability to walk, Myoclonus, Long palpebral fissure	OMIM:616158
Marshall-Smith Syndrome	Omphalocele, Thoracic scoliosis, Highly arched eyebrow, Kyphoscoliosis, Bilateral cryptorchidism,...	OMIM:602535
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u...	ORPHA:93552
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ...	ORPHA:93360
Agel Amyloidosis	Proteinuria, Ataxia, Bilateral ptosis, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca...	ORPHA:85448
Cardiac-Valvular Ehlers-Danlos Syndrome	Inguinal hernia, Thoracolumbar scoliosis, Kyphoscoliosis, Atrophic scars, Thick eyebrow, Ptosis	ORPHA:230851
Optic Atrophy 11	Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements	OMIM:617302
Myoclonic Epilepsy Of Infancy	Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination	ORPHA:86909
Spondyloenchondrodysplasia	Proteinuria, Kyphosis, Chorea, Chronic kidney disease, Hematuria, Platyspondyly, Spasticity	ORPHA:1855
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Epicanthus, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Ata...	OMIM:300998
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Limb joint contracture, Lagophthalmos, Bilateral ptosis, Chorea, Inability to walk, Achilles tend...	ORPHA:404454
Developmental And Epileptic Encephalopathy 54	Myoclonus	OMIM:617391
Cockayne Syndrome	Urinary incontinence, Progressive gait ataxia, Hypertonia, Congenital contracture, Intention trem...	ORPHA:191
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Mucopolysaccharidosis, Type Vi	Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging o...	OMIM:253200
Full Schwannomatosis	Hypoesthesia, Paresthesia, Fasciculations, Scoliosis, Lipoma	ORPHA:93921
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Back pain, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Vocal cord paraly...	ORPHA:98863
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Microcephaly-Capillary Malformation Syndrome	Vesicoureteral reflux, Myoclonus, Spastic tetraparesis, Ptosis	OMIM:614261
Childhood Absence Epilepsy	Limb myoclonus, Abnormal social behavior, EEG with spike-wave complexes (2.5-3.5 Hz)	ORPHA:64280
Pontocerebellar Hypoplasia, Type 2E	Epicanthus, Flexion contracture, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Scolio...	OMIM:615851
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Inguinal hernia, Kyphoscoliosis, Hiatus hernia, Cervical spi...	OMIM:615582
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Squamous cell carcinoma of the skin, Myelodysplasia	OMIM:620365
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Amyotrophic Lateral Sclerosis 18	Spasticity, Fasciculations	OMIM:614808
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Epicanthus, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short...	ORPHA:457395
Holoprosencephaly	Omphalocele, Epicanthus, Hypoplasia of penis, Proteinuria, Highly arched eyebrow, Short neck, Con...	ORPHA:2162
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Spastic tetraparesis, Short neck, Ankle flexion contracture, Knee flexion...	ORPHA:284417
Malignant Hyperthermia, Susceptibility To, 1	Rigidity, Myoglobinuria	OMIM:145600
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Spastic tetraplegia, Opis...	OMIM:252160
Pseudoleprechaunism Syndrome, Patterson Type	Bladder diverticulum, Abnormal odontoid process morphology, Kyphoscoliosis	ORPHA:2976
Xeroderma Pigmentosum, Complementation Group B	Pigmentary retinopathy, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cuta...	OMIM:610651
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Conjunctivitis, Paresthesia, Myoclonic spasms, Laryngeal dystonia	ORPHA:36913
Rheumatic Fever	Chorea, Nephrotic syndrome, Gait disturbance, Hemiballismus, Fasciculations	ORPHA:3099
Immunodeficiency 23	Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, Myoclonus, Scolios...	OMIM:615816
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Amyotrophic Lateral Sclerosis 8	Loss of ambulation, Abnormal pyramidal sign, Fasciculations, Postural tremor	OMIM:608627
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Somatic sensory dysfunction, Tremor, Dysmetria, Primary amenorrhea, Progressive cerebellar ataxia...	ORPHA:502423
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, G...	OMIM:227810
Combined Oxidative Phosphorylation Deficiency 51	Rigidity, Myoclonus	OMIM:619057
Hemorrhagic Fever-Renal Syndrome	Back pain, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubul...	ORPHA:340
Amyotrophic Lateral Sclerosis 1	Pseudobulbar paralysis, Fasciculations, Spasticity	OMIM:105400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys	OMIM:613845
D-Glyceric Aciduria	Spastic tetraplegia, Spasticity, Opisthotonus, Aminoaciduria, Myoclonus, Micropenis	OMIM:220120
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria	ORPHA:330001
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Crisponi Syndrome	Kyphosis, Hypertonia, Scoliosis	ORPHA:1545
You-Hoover-Fong Syndrome	Spasticity, Ataxia, Kyphoscoliosis	OMIM:616954
Dystonia 26, Myoclonic	Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia	OMIM:616398
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Ataxia, Lacticaciduria, Myoclonus, Dystonia	OMIM:619167
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Blephar...	OMIM:608643
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Hemiparesis, Proteinuria, Apraxia	OMIM:192315
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Loss of ambulation, Exercise-induced myoglobinuria	ORPHA:352479
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Brain-Lung-Thyroid Syndrome	Incoordination, Hypospadias, Ataxia, Involuntary movements, Dystonia, Chorea, Megacystis, Clumsin...	ORPHA:209905
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ...	ORPHA:521411
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Tip-toe gait, Gait disturbanc...	ORPHA:98855
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Urinary incontinence, Tremor, Kyphosis, Synophrys, Congenital ptosis, Gait ataxia, Sl...	ORPHA:476126
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Paralysis	OMIM:612300
Mucopolysaccharidosis, Type Iva	Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc...	OMIM:253000
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease, Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Spasticity	ORPHA:2752
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Myopathy With Lactic Acidosis, Hereditary	Bilateral ptosis, Myoglobinuria, Frequent falls, Difficulty walking	OMIM:255125
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Vocal cord paralysis, Tip-toe...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Vocal cord paralysis, Tip-toe...	ORPHA:98853
Spondylodysplastic Ehlers-Danlos Syndrome	Inguinal hernia, Congenital kyphoscoliosis, Multiple joint contractures, Kyphoscoliosis, Cryptorc...	ORPHA:536471
Chromosome 18Q Deletion Syndrome	Epicanthus, Broad-based gait, Hypospadias, Inguinal hernia, Short neck, Tremor, Cryptorchidism, C...	OMIM:601808
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Hemiplegia/hemiparesis, Hematuria, Tubulointers...	ORPHA:183
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Dementia, Gait disturbance, Decerebrate rigidity, Progressive spa...	ORPHA:512
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Fasciculations	OMIM:619141
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Hemimegalencephaly	Hemiparesis, Myoclonus	ORPHA:99802
Acute Intermittent Porphyria	Dark urine, Back pain, Renal insufficiency, Somatic sensory dysfunction, Dysuria, Urinary inconti...	ORPHA:79276
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria, Downslanted palpebral fi...	ORPHA:86818
Williams-Beuren Syndrome	Flexion contracture, Vocal cord paralysis, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, P...	OMIM:194050
Cutis Laxa, Autosomal Recessive, Type Iic	Reduced subcutaneous adipose tissue, Entropion, Kyphoscoliosis, Bilateral cryptorchidism, Knee fl...	OMIM:617402
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Proteinuria, Ataxia, T...	OMIM:216400
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Impaired vibratory sensation, Somatic sensory dysfunction, Flexion contracture of finger, Urinary...	ORPHA:466768
Fatal Familial Insomnia	Urinary retention, Myoclonus, Ataxia	OMIM:600072
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Spastic paraplegia, Dysmetr...	ORPHA:171629
Brody Disease	Somatic sensory dysfunction, Flexion contracture, Fasciculations	OMIM:601003
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Epicanthus, Thoracic scoliosis, Hypospadias, Cervical kyphosi...	OMIM:114290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Epicanthus, Ureteral hypoplasia, Congenital diaphragmatic ...	OMIM:614080
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,...	ORPHA:139396
Wagro Syndrome	Proteinuria, Nephroblastoma, Downslanted palpebral fissures, Decreased testicular size, Ptosis	OMIM:612469
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Umb...	OMIM:222448
Melnick-Needles Syndrome	Omphalocele, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Gait di...	OMIM:309350
Typical Nemaline Myopathy	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Gait disturbance, Scoliosis	ORPHA:171436
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment	OMIM:604218
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a...	ORPHA:646
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Papa Syndrome	Proteinuria	ORPHA:69126
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Camptodactyly of finger, Flexion contracture, Congenital contracture, ...	ORPHA:115
Cockayne Syndrome Type 2	Lower limb spasticity, Ataxia, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis, Limb hy...	ORPHA:90322
Floating-Harbor Syndrome	Speech apraxia, Broad-based gait, Hypospadias, Renal agenesis, Kyphoscoliosis, Short neck, Crypto...	ORPHA:2044
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Robinow Syndrome	Fused thoracic vertebrae, Multicystic kidney dysplasia, Kyphoscoliosis, Cryptorchidism, Hemiverte...	ORPHA:97360
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Epicanthus, Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Renal hypoplasia/aplasia, Abnorm...	ORPHA:363700
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Epicanthus, Renal insufficiency, Telecanthus, Proteinuria, Ataxia, ...	ORPHA:2750
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Cryptorchidism, Upslanted palpebral fis...	OMIM:300967
Oculocerebrorenal Syndrome Of Lowe	Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Abnormal dental enam...	ORPHA:534
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity	OMIM:618201
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto...	OMIM:183900
Sialuria	Neuropathic spinal arthropathy, Epicanthus, Hyperkinetic movements	ORPHA:3166
Spondylometaphyseal Dysplasia, Schmidt Type	Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis	ORPHA:93316
Cystinosis, Nephropathic	Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic ...	OMIM:219800
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Epicanthus, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Renal hypoplasia, Upslanted ...	OMIM:309580
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Apraxia, Oculomotor apraxia, Spasticity	OMIM:314580
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
4Q21 Microdeletion Syndrome	Tremor, Kyphosis, Scoliosis, Short neck	ORPHA:238750
Osteogenesis Imperfecta, Type Xx	Vertebral compression fracture, Kyphoscoliosis, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Behavioral Variant Of Frontotemporal Dementia	Upper motor neuron dysfunction, Gait disturbance, Fasciculations, Abnormality of extrapyramidal m...	ORPHA:275864
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hemiplegia/hemiparesis, Abnormal pyramidal sign, Paresthesia, Myoclonus, Abnormality of extrapyra...	ORPHA:79279
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Larsen-Like Syndrome	Kyphoscoliosis	OMIM:608545
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Epicanthus, Sparse eyelashes, Kyphoscoliosis, Absent eyelashes, Sparse eyebrow, C...	OMIM:268400
Restrictive Dermopathy 1	Ureteral duplication, Entropion, Sparse eyelashes, Hypospadias, Kyphoscoliosis, Limb joint contra...	OMIM:275210
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Ataxia, Tremor, Myoclonus, Gait imbalance	ORPHA:98794
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Ataxia	ORPHA:324737
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Vaginal hydrocele, Hematuri...	ORPHA:2035
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Malakoplakia	Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,...	ORPHA:556
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal...	ORPHA:94068
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Kufor-Rakeb Syndrome	Eyelid apraxia, Urinary incontinence, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, A...	ORPHA:306674
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Scoliosis	OMIM:619797
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
9P13 Microdeletion Syndrome	Epicanthus, Highly arched eyebrow, Hand tremor, Myoclonus, Scoliosis, Umbilical hernia, Thick eye...	ORPHA:324313
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr...	OMIM:259600
Abeta Amyloidosis, Iowa Type	Gait disturbance, Myoclonus	ORPHA:324708
Scorpion Envenomation	Hemifacial spasm, Ketonuria, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus, Glyc...	ORPHA:466677
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Kyphoscoliosis, Cervical spine instability, Atrophic scars, Platyspondyly, Joint contracture	OMIM:615349
Gaucher Disease, Type Iii	Ataxia, Myoclonus, Spastic paraparesis	OMIM:231000
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Recurrent urinary tract infections, Ataxia, Tremor, Inability to walk, Upp...	OMIM:619229
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Hypospadias, Ataxia, Tremor, Cryptorchidism, 3-Methylglutaconic aciduria, Umbili...	OMIM:614052
Xeroderma Pigmentosum, Complementation Group E	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	OMIM:278740
Majeed Syndrome	Glomerulopathy, Microscopic hematuria, Proteinuria, Flexion contracture	ORPHA:77297
Arthrogryposis, Distal, Type 4	Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis	OMIM:609128
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Hypospadias, Kyphoscoliosis, Knee flexion contracture, Minimal subcutaneous fat,...	OMIM:210730
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Abnormal pyr...	OMIM:614947
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Inability to walk, Kyphosis, Unsteady gait, Scoli...	OMIM:618443
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Thoracolumbar kyphosis, Cervical instability, Platyspondyly, Kyphoscoliosis	OMIM:617425
Joubert Syndrome	Ataxia, Highly arched eyebrow, Tremor, Abnormal form of the vertebral bodies, Gait disturbance, S...	ORPHA:475
Developmental And Epileptic Encephalopathy 31B	Appendicular spasticity, Clonus, Involuntary movements, Almond-shaped palpebral fissure, Opisthot...	OMIM:620352
Arthrogryposis, Distal, Type 5	Kyphosis, Hypertonia, Scoliosis	OMIM:108145
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Inability to walk, Kyphosis, Scoliosis, Oculomotor apraxia, Spasticity	OMIM:301041
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyperkinetic movements, U...	OMIM:617799
Ataxia-Telangiectasia	Conjunctival telangiectasia, Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred spee...	OMIM:208900
Floating-Harbor Syndrome	Inguinal hernia, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Glandular hypospadias, ...	OMIM:136140
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Difficu...	OMIM:618476
Posttransplant Acute Limbic Encephalitis	Ataxia, Myoclonus, Dystonia	ORPHA:163921
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Fasciculations	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Fasciculations	OMIM:616437
Noonan Syndrome 1	Male infertility, Epicanthus, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Hypogonadi...	OMIM:163950
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Pseudohypoparathyroidism Type 2	Laryngeal dystonia, Myoclonic spasms, Paresthesia, Low urinary cyclic AMP response to PTH adminis...	ORPHA:94090
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Acute kidney injury	ORPHA:57
Lathosterolosis	Abnormal thoracic spine morphology, Epicanthus, Hypoplasia of penis, Horseshoe kidney, Myoclonus,...	ORPHA:46059
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria	OMIM:618886
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
3Q27.3 Microdeletion Syndrome	Downslanted palpebral fissures, Kyphoscoliosis	ORPHA:397695
Microcephaly, Amish Type	Flexion contracture, Myoclonus, Limb hypertonia	OMIM:607196
Aymé-Gripp Syndrome	Inguinal hernia, Proteinuria, Congenital diaphragmatic hernia, Bilateral ptosis, Cryptorchidism, ...	ORPHA:1272
Juvenile Absence Epilepsy	Myoclonus	ORPHA:1941
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol...	ORPHA:582
Mercury Poisoning	Tremor, Confusion, Dystonia	ORPHA:330021
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Involuntary movements, Tremor, Hematuria, Tubulointerstitial nep...	ORPHA:90068
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Waddling gait, Lumbar hyperlordosis, Camptodactyly of finger, Highly arched eyebrow, Short neck, ...	OMIM:143095
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Hypertonia, Gait disturbanc...	ORPHA:682
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Cerebral palsy, Myoclonus, Scoliosis	OMIM:617600
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Chorea, Hematuria	ORPHA:536
Ethylene Glycol Poisoning	Renal insufficiency, Ataxia, Slurred speech, Renal tubular epithelial necrosis, Renal tubular dys...	ORPHA:31826
Immunoglobulin A Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hemiplegia/hemiparesis, Hematuria	ORPHA:761
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Renal insufficiency, Proteinuria, Ataxia, Tremor, Kyphosis, ...	OMIM:133540
Myopathy, Myofibrillar, 2	Fasciculations	OMIM:608810
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Speech apraxia, Epicanthus, Ataxia, Kyphoscoliosis, Bilateral cryptorchidism, Cryptorchidism, Ups...	ORPHA:466791
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Multifocal Motor Neuropathy	Fasciculations	ORPHA:641
Tubulointerstitial Nephritis And Uveitis Syndrome	Chorioretinal scar, Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necros...	ORPHA:91500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypercalciuria	ORPHA:2239
Gaucher Disease Type 1	Hematuria, Kyphosis, Vertebral compression fracture, Proteinuria	ORPHA:77259
Gm1 Gangliosidosis	Ataxia, Hyperlordosis, Tremor, Kyphosis, Unsteady gait, Abnormal form of the vertebral bodies, Pl...	ORPHA:354
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Clonus, Spastic tetraplegia, Aminoaciduria, Myoclonus, Scoliosis	OMIM:619055
Pseudoachondroplasia	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,...	OMIM:177170
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Tremor, Emotional lability, Irritability, Ataxia	OMIM:201100
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Alg1-Cdg	Kyphosis, Scoliosis	ORPHA:79327
Neuroleptic Malignant Syndrome	Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Oculogyric crisis, Tremor, C...	ORPHA:94093
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Basilar Impression, Primary	Kyphoscoliosis, Horner syndrome, Short neck	OMIM:109500
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Diffuse Alveolar Hemorrhage	Hematuria, Proteinuria	ORPHA:90060
Pediatric-Onset Graves Disease	Tremor, Hyperkinetic movements, Abnormal eyelid morphology	ORPHA:525731
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:3191
Mucopolysaccharidosis, Type Ivb	Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat...	OMIM:253010
Kinsship Syndrome	Sacral dimple, Spastic tetraparesis, Short neck, Synophrys, Renal hypoplasia, Horseshoe kidney, M...	OMIM:619297
Congenital Sialidosis Type 2	Inguinal hernia, Ataxia, Abnormality of the kidney, Dysmetria, Myoclonus, Umbilical hernia, Spast...	ORPHA:93400
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Nonprogressive ...	ORPHA:314647
Dyskeratosis Congenita, Digenic	Abnormality of skin pigmentation, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the ...	OMIM:620040
Alternating Hemiplegia Of Childhood	Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abno...	ORPHA:2131
Schaaf-Yang Syndrome	Inability to walk, Kyphosis, Scoliosis	OMIM:615547
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration...	OMIM:607459
Angelman Syndrome	Broad-based gait, Ataxia, Tremor, Inability to walk, Myoclonus, Scoliosis, Delayed menarche, Ptosis	ORPHA:72
Xeroderma Pigmentosum, Complementation Group A	Melanoma, Squamous cell carcinoma of the skin, Hypermelanotic macule	OMIM:278700
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Incoordination, Paralysis, Tremor, Depression, Dimin...	ORPHA:297
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie...	OMIM:271510
Basal Cell Nevus Syndrome 1	Vertebral fusion, Kyphoscoliosis, Orbital cyst, Hemivertebrae, Vertebral wedging, Scoliosis	OMIM:109400
Williams Syndrome	Hypoplasia of penis, Tremor, Abnormal form of the vertebral bodies, Abnormal tubulointerstitial m...	ORPHA:904
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Diastrophic Dysplasia	Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies	ORPHA:628
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Epicanthus, Lumbar hyperlordosis, Unilateral renal agenesis, Kyphoscoliosis, Sparse eyebrow, Bila...	ORPHA:500150
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Pyridoxal Phosphate-Responsive Seizures	Unsteady gait, Hypertonia, Myoclonus	ORPHA:79096
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Kyphosis, Cryptorchidism, Bicarb...	OMIM:309000
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr...	ORPHA:8
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Hypertonia, Myoclonus	ORPHA:289266
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod...	ORPHA:2311
Wrinkly Skin Syndrome	Epicanthus, Inguinal hernia, Lipodystrophy, Kyphoscoliosis, Cryptorchidism, Slurred speech, Progr...	ORPHA:2834
Incontinentia Pigmenti	Spasticity, Hemivertebrae, Scarring, Kyphoscoliosis	OMIM:308300
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Multiple joint contractures, Lipoatrophy, Tremor, Hem...	ORPHA:51
Peho Syndrome	Epicanthus, Myoclonus	OMIM:260565
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Kyphoscoliosis, Short neck, Blepharophimosis	ORPHA:254519
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Camptodacty...	OMIM:249420
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Ankle flexion contracture, Flexion contracture, Elbow flexion contracture, Hamstring contractures...	ORPHA:206549
Hyperekplexia 1	Inguinal hernia, Exaggerated startle response, Hypertonia, Myoclonus, Umbilical hernia, Frequent ...	OMIM:149400
Gm1-Gangliosidosis, Type I	Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Beaking of vertebral b...	OMIM:230500
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Adenylosuccinase Deficiency	Inability to walk, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spasticity	OMIM:103050
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Numerous pigmented freckles, Squamous cell carcinoma of the skin, Basal cell carcinoma	ORPHA:220295
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function	OMIM:614299
Alexander Disease	Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyramidal sign, Tet...	ORPHA:58
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Irregular menstruation, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalci...	ORPHA:79259
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Positive Romberg sign,...	ORPHA:70595
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Myoclonus, Opisthotonus	OMIM:619814
Desbuquois Dysplasia 1	Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Dysmenorrhea, Irregular menstruation, Renal tubular acidosis, Oligomenorrhea, Myoglobinuria	ORPHA:79240
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Pontocerebellar Hypoplasia Type 7	Epicanthus, Involuntary movements, Cryptorchidism, Spasticity, Upslanted palpebral fissure, Hyper...	ORPHA:284339
Autosomal Dominant Hypocalcemia	Writer's cramp, Hypercalciuria, Nephrocalcinosis, Paresthesia, Hypermagnesiuria, Cortical myoclonus	ORPHA:428
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Late Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical myoclonus	ORPHA:168491
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon...	OMIM:620189
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Spastic tetraplegia, Limb hypertonia	OMIM:619909
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E...	OMIM:227650
Ullrich Congenital Muscular Dystrophy 1	Kyphosis, Torticollis, Scoliosis, Spinal rigidity	OMIM:254090
Glycogen Storage Disease Vii	Hematuria, Exercise-induced myoglobinuria	OMIM:232800
Hyperekplexia 3	Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia	OMIM:614618
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Fucosidosis	Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa...	ORPHA:349
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Conjunctival icterus, Chronic kidney disease, ...	ORPHA:447
Otopalatodigital Syndrome, Type Ii	Omphalocele, Hypospadias, Elbow contracture, Kyphoscoliosis, Short neck, Cryptorchidism, Platyspo...	OMIM:304120
Pmm2-Cdg	Epicanthus, Multiple joint contractures, Proteinuria, Ataxia, Kyphoscoliosis, Abnormality of coor...	ORPHA:79318
Kniest Dysplasia	Hip contracture, Inguinal hernia, Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyph...	OMIM:156550
Cono-Spondylar Dysplasia	Kyphosis, Poor coordination, Scoliosis, Short neck	ORPHA:420794
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Hyperekplexia 2	Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia	OMIM:614619
Congenital Myopathy 22A, Classic	Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Frequent falls	OMIM:620351
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Basal cell carcin...	ORPHA:79430
Methylmalonic Aciduria, Cbla Type	Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Methylmalonic aciduria, Elevated...	OMIM:251100
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Hellp Syndrome	Back pain, Hemoglobinuria, Acute kidney injury, Proteinuria	ORPHA:244242
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hemiplegia, Prost...	ORPHA:900
Early Infantile Epileptic Encephalopathy	Tremor, Spasticity, Choreoathetosis, Myoclonus, Ureterocele, Dystonia, Episodic ataxia, Umbilical...	ORPHA:1934
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Irregular menstruation, Renal tubular acidosis, Oligomenorrhea, Myoglobinuria	ORPHA:264580
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Myoclonus	OMIM:619060
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, Renal tubular dysfunction, Hypertonia, Glycosuria, Spasticity	OMIM:616539
Combined Oxidative Phosphorylation Deficiency 27	Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia	OMIM:616672
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations	ORPHA:2912
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:612199
Japanese Encephalitis	Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Elbow flexion contracture, Opi...	ORPHA:79139
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Flexion contracture, Paraplegia, Irregular ve...	OMIM:271640
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur...	ORPHA:411629
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy	ORPHA:1018
Osteogenesis Imperfecta, Type Xvii	Vertebral compression fracture, Dentinogenesis imperfecta, Platyspondyly, Kyphoscoliosis	OMIM:616507
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Speech apraxia, Ptosis, Telecanthus, Myoclonus, Downslanted palpebral fissures, Sparse lateral ey...	ORPHA:314655
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Long eyelashes,...	OMIM:617281
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Aciduria, Paralysis, Hypertonia, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Scol...	OMIM:203700
Pgm3-Cdg	Membranoproliferative glomerulonephritis, Ataxia, Narrow palpebral fissure, Myoclonus, Cortical m...	ORPHA:443811
Rett Syndrome, Congenital Variant	Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity	OMIM:613454
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Myoclonus	OMIM:614946
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
African Trypanosomiasis	Renal insufficiency, Abnormal central motor function, Somatic sensory dysfunction, Urinary incont...	ORPHA:3385
Sponastrime Dysplasia	Epicanthus, Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Hyperconvex vertebral body endplat...	ORPHA:93357
Amyotrophy, Monomelic	Fasciculations	OMIM:602440
Gaucher Disease Type 3	Hematuria, Gait disturbance, Proteinuria, Ataxia	ORPHA:77261
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Spastic diplegi...	OMIM:300966
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Rigidity, Myoclonus	OMIM:300673
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Hydroureter, Hypospadias, Kyphoscoliosis, Renal hypoplasia/aplasia, Cryptor...	OMIM:309800
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Dyggve-Melchior-Clausen Disease	Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl...	OMIM:223800
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Short neck	OMIM:608776
Urban-Rogers-Meyer Syndrome	Kyphosis, Short neck	ORPHA:3409
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Epicanthus, Interphalangeal joint contracture of finger, Kyphoscoliosis, Short neck,...	ORPHA:96334
Choreoacanthocytosis	Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta...	ORPHA:2388
Pearson Syndrome	Renal insufficiency, Proteinuria, Ataxia, Lacticaciduria, Renal cyst, Glycosuria, Ptosis	ORPHA:699
Acquired Generalized Lipodystrophy	Panniculitis, Proteinuria, Generalized lipodystrophy	ORPHA:79086
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Postural tremor, Limb joint contracture, Babinski sign, Flexion contracture, Lower limb h...	OMIM:301072
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil...	ORPHA:90793
Familial Mediterranean Fever	Proteinuria, Orchitis, Nephrocalcinosis, Nephrotic syndrome, Nephropathy	ORPHA:342
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Kyphoscoliosis, Hyperlordosis, Ankle flexion contracture, Flexion contracture, E...	ORPHA:2020
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia	OMIM:618321
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia	OMIM:169400
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Ataxia, Spastic hemiparesis, 3-Methylglutaric aciduria, Myoclonus, Spasticity	ORPHA:20
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Epicanthus, Streak ovary, Hypospadias, Abnormality of the kidney, Unilateral cr...	ORPHA:1772
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Male hypogonadism, Micropenis, Proteinuria	OMIM:619471
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Hiatus hernia, Cryptorchidism, Unsteady gait, Scoliosis, Loss of ambulation	OMIM:616682
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia	OMIM:617190
Glycogen Storage Disease Xii	Hemoglobinuria, Epicanthus, Short neck, Ptosis	OMIM:611881
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Partial Androgen Insensitivity Syndrome	Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias...	ORPHA:90797
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis	ORPHA:3121
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Tremor, Kyphosis, Pain insensitivity, Scoliosis	OMIM:617061
Developmental And Epileptic Encephalopathy 100	Synophrys, Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia, Choreoathetos...	OMIM:619777
Orofaciodigital Syndrome Iii	Kyphosis, Myoclonus	OMIM:258850
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Squamous cell carcinoma of the skin, Myelodysplasia, Reticular hyperpi...	OMIM:127550
Fabry Disease	Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrot...	ORPHA:324
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Intellectual Developmental Disorder, Autosomal Recessive 78	Kyphoscoliosis	OMIM:620237
Marfan Syndrome	Reduced subcutaneous adipose tissue, Kyphoscoliosis, Incisional hernia, Flexion contracture, Scol...	OMIM:154700
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Exercise-induced myoglobinuria	OMIM:201475
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:2479
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Trisomy 20P	Incoordination, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentati...	ORPHA:261318
Infantile Krabbe Disease	Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decerebrate rigid...	ORPHA:206436
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Inability to walk, Hypoplasi...	ORPHA:508533
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Listeriosis	Back pain, Somatic sensory dysfunction, Ataxia, Tremor, Pyelonephritis, Hemiparesis, Conjunctivit...	ORPHA:533
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Multiple joint contractures, Urinary incontinence, Clonus, Synophrys, Hype...	ORPHA:447997
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Proteinuria, Polycystic kidney dysplasia, Enamel hypoplasia, Downslanted...	OMIM:311200
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Inability to walk, Unsteady gait, Kyphosis, Scoliosis	OMIM:618493
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Gaucher Disease	Proteinuria, Ataxia, Tremor, Hemiplegia/hemiparesis, Hematuria, Abnormality of extrapyramidal mot...	ORPHA:355
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Conjunctival icterus, Hemoglobinuria	OMIM:194380
Branchioskeletogenital Syndrome	Abnormality of the cervical spine, Telecanthus, Ureteral stenosis, Abnormality of the vertebral s...	ORPHA:1299
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, White eyebrow, Ataxia, Cryptorchidism, Spastic tetraplegia, Distal ...	OMIM:609136
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis	OMIM:615381
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Short neck, Flexion contracture, Renal cyst, Hypertonia, Camptod...	OMIM:601803
Cog8-Cdg	Ataxia, Myoclonus	ORPHA:95428
46,Xy Partial Gonadal Dysgenesis	Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop...	ORPHA:251510
Gabriele-De Vries Syndrome	Waddling gait, Telecanthus, Lacrimal duct stenosis, Sparse eyebrow, Tremor, Cryptorchidism, Dista...	ORPHA:506358
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Cerebral palsy, Dystonia, Inability to walk, Myoclonus, Limb dystonia, Hemipl...	OMIM:616973
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Kyphosis, Dysmetria, Intention tremor	OMIM:619708
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Myoclonus	OMIM:612949
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Uterine prolapse, Involuntary movements, Almond-s...	ORPHA:438213
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentation, Squamous cel...	ORPHA:79396
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Orchitis, Hematuria	ORPHA:48435
15Q24 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:94065
Emanuel Syndrome	Kyphosis, Torticollis, Sacral dimple, Scoliosis	OMIM:609029
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Premature graying of hair, Papillary renal cell carcinoma, Basal cell ...	ORPHA:363618
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Joint contracture, Myoclonus	OMIM:614462
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:253220
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:2789
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Multifocal epileptiform discharges, EEG abnormality, Hypertonia, Abnormal soci...	ORPHA:1675
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Coffin-Lowry Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Scoliosis, Progres...	ORPHA:192
Trisomy 13	Kyphosis, Scoliosis	ORPHA:3378
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Postpoliomyelitis Syndrome	Fasciculations	ORPHA:2942
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Cog1-Cdg	Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Vertebral segmentation defect, Down...	ORPHA:263508
Whipple Disease	Erectile dysfunction, Abnormal pyramidal sign, Myoclonus, Ataxia	ORPHA:3452
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Hyperto...	OMIM:617527
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Imerslund-Gräsbeck Syndrome	Proteinuria	ORPHA:35858
3C Syndrome	Kyphosis, Hemivertebrae, Scoliosis, Short neck	ORPHA:7
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
19P13.12 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:254346
Cowden Syndrome 5	Kyphosis, Scoliosis, Intention tremor	OMIM:615108
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Conjunctivitis	ORPHA:728
Harrod Syndrome	Kyphosis, Scoliosis	ORPHA:2115
Pycnodysostosis	Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Spondylolisthesis	ORPHA:763
Sandhoff Disease, Infantile Form	Exaggerated startle response, Myoclonus, Spasticity	ORPHA:309155
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Mucopolysaccharidosis Type 6	Kyphosis, Ovoid vertebral bodies, Short neck	ORPHA:583
Combined Oxidative Phosphorylation Deficiency 57	Myoclonus, Dystonia	OMIM:620167
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Marden-Walker Syndrome	Kyphosis, Scoliosis, Short neck	OMIM:248700
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Spasticity, Scoliosis	OMIM:616449
Micro Syndrome	Kyphosis, Spasticity, Scoliosis	ORPHA:2510
Vici Syndrome	Abnormal posturing, Failure to thrive	OMIM:242840
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
3-Methylglutaconic Aciduria, Type Viii	Clonus, Tremor, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Hypertonia, Dystonia	OMIM:617248
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Upslanted palpebral fissure, Myoclonus, Blepharophimosis	ORPHA:1352
Ring Chromosome 7 Syndrome	Unilateral ptosis, Epicanthus, Hypospadias, Highly arched eyebrow, Bilateral ptosis, Hydrocele te...	ORPHA:1449
Holt-Oram Syndrome	Kyphosis, Scoliosis	ORPHA:392
Cowden Syndrome 6	Kyphosis, Scoliosis, Intention tremor	OMIM:615109
Developmental And Epileptic Encephalopathy 2	Inability to walk, Myoclonus, Scoliosis	OMIM:300672
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria	OMIM:300908
Fg Syndrome Type 1	Broad-based gait, Abnormal social behavior	ORPHA:93932
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Kyphosis, Progressive spastic quadriplegia, Abnormality o...	ORPHA:521426
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Koolen-De Vries Syndrome	Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis	ORPHA:96169
Hurler-Scheie Syndrome	Kyphosis, Scoliosis	OMIM:607015
Sotos Syndrome	Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Abnormal vertebral morp...	ORPHA:821
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies	OMIM:130720
Farber Disease	Paraparesis, Flexion contracture, Abnormal conjunctiva morphology, Myoclonus, Spasticity	ORPHA:333
2P15P16.1 Microdeletion Syndrome	Lower limb spasticity, Kyphosis, Gait disturbance, Scoliosis	ORPHA:261349
Infection-Related Hemolytic Uremic Syndrome	Anuria, Oliguria, Hemiparesis, Acute kidney injury, Nephrotic range proteinuria, Decreased urine ...	ORPHA:544482
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Gait disturbance, Scoliosis	ORPHA:500055
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:219090
Weaver Syndrome	Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, Spasticity	OMIM:277590
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis	ORPHA:2075
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute kidney injury	ORPHA:423
Triosephosphate Isomerase Deficiency	Tremor, Kyphosis, Spasticity, Unsteady gait	OMIM:615512
Kawasaki Disease	Proteinuria, Conjunctivitis, Sterile pyuria, Ptosis	ORPHA:2331
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Insulin-Resistance Syndrome Type B	Proteinuria, Nephritis, Glycosuria	ORPHA:2298
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Scoliosis	OMIM:619951
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis	OMIM:616482
Bloom Syndrome	Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Sparse eye...	ORPHA:125
Basel-Vanagaite-Smirin-Yosef Syndrome	Inability to walk, Kyphosis, Scoliosis, Difficulty walking, Spasticity	ORPHA:464738
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Cowden Syndrome 1	Kyphosis, Scoliosis, Intention tremor	OMIM:158350
Neurofibroma	Spinal canal stenosis, Kyphoscoliosis	ORPHA:252183
Microphthalmia, Lenz Type	Kyphosis, Scoliosis, Hyperlordosis	ORPHA:568
Crimean-Congo Hemorrhagic Fever	Proteinuria, Orchitis, Hematuria, Conjunctivitis, Fasciculations	ORPHA:99827
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Gait disturbance, Scolio...	OMIM:265000
Hurler Syndrome	Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, C1-C2 sublu...	OMIM:607014
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Hyperlordosis, Kyphosis, Scoliosis, Gait ataxia	OMIM:617011
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Abnormally s...	ORPHA:800
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Epicanthus, Bilateral ptosis, Hemivertebrae, N...	ORPHA:79500
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis	OMIM:610443
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Scoliosis	ORPHA:2215
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Anuria, Acute kidney injury	ORPHA:90038
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Atelis Syndrome 2	Kyphosis, Sacral dimple, Dysmetria	OMIM:620185
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop...	ORPHA:3042
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Tip-toe gait, Scoliosis	OMIM:618050
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Distal Triplication 15Q	Kyphosis, Scoliosis	ORPHA:314588
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head ...	OMIM:619475
Alstrom Syndrome	Kyphosis, Scoliosis	OMIM:203800
Prader-Willi Syndrome	Impaired pain sensation, Kyphosis, Poor gross motor coordination, Poor fine motor coordination, S...	OMIM:176270
16Q24.3 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261250
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Scoliosis	OMIM:617602
Noonan Syndrome 14	Kyphosis, Short neck	OMIM:619745
Mend Syndrome	Abnormal social behavior, Abnormal auditory evoked potentials, Limb hypertonia	ORPHA:401973
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility	ORPHA:99429
Mucopolysaccharidosis, Type Ii	Kyphosis, Short neck	OMIM:309900
Camurati-Engelmann Disease	Waddling gait, Ataxia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Scoliosis	ORPHA:1328
2Q31.1 Microdeletion Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck	ORPHA:251014
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Hemivertebrae, Scoliosis, Short neck	OMIM:618223
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Scoliosis, Impaired temperature sensation	ORPHA:398069
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, ...	ORPHA:363958
Nmda Receptor Encephalitis	Involuntary movements, Oculogyric crisis, Rigidity, Chorea, Testicular teratoma, Opisthotonus, Ch...	ORPHA:217253
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Kyphosis, Scoliosis, Impaired pain sensation	OMIM:619005
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Scoliosis, Hyperlordosis	OMIM:162300
Wolf-Hirschhorn Syndrome	Sacral dimple, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the verteb...	ORPHA:280
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Prader-Willi Syndrome Due To Translocation	Abnormal social behavior, Impaired social interactions	ORPHA:177907
Cohen Syndrome	Kyphosis, Scoliosis	ORPHA:193
Osteogenesis Imperfecta	Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fracture,...	ORPHA:666
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis, Difficulty walking	OMIM:619482
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of the cervical spine, Kyphosis, Gait disturbance, Scoliosis	ORPHA:464311
Lafora Disease	Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity	ORPHA:501
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Sacral dimple, Scoliosis, Short neck	OMIM:616894
Opsoclonus-Myoclonus Syndrome	Rigidity, Limb myoclonus, Ataxia, Myoclonus	ORPHA:1183
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Classic Homocystinuria	Hemiplegia/hemiparesis, Kyphosis, Scoliosis	ORPHA:394
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis	OMIM:616914
Dyrk1A-Related Intellectual Disability Syndrome	Abnormality of the cervical spine, Kyphosis, Gait disturbance, Scoliosis	ORPHA:464306
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Mgat2-Cdg	Kyphosis, Scoliosis	ORPHA:79329
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Kyphosis, Hypertonia, Scoliosis, Short neck	OMIM:619194
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Cdags Syndrome	Kyphosis	OMIM:603116
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Sacral dimple, Ataxia, Kyphosis, Hypertonia, Gait disturbance, Scoliosis	ORPHA:268261
Aspartylglucosaminuria	Kyphosis, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spond...	OMIM:208400
Monosomy 9Q22.3	Kyphosis, Abnormality of the vertebral column, Short neck	ORPHA:77301
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Spasticity, Hypertonia, Ataxia, Myoclonus	OMIM:618426
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1507
Cockayne Syndrome Type 3	Kyphosis, Unsteady gait, Scoliosis, Difficulty walking, Intention tremor	ORPHA:90324
Myoclonic Epilepsy Of Lafora	Gait disturbance, Myoclonus, Apraxia	OMIM:254780
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Hajdu-Cheney Syndrome	Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies	ORPHA:955
Cystic Fibrosis	Male infertility, Hypercalciuria	OMIM:219700
Mend Syndrome	Kyphosis, Sacral dimple, Hypertonia	OMIM:300960
Smith-Lemli-Opitz Syndrome	Short neck, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Scoliosis	ORPHA:818
Cowden Syndrome	Kyphosis, Ataxia, Scoliosis	ORPHA:201
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Poland Syndrome	Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta	ORPHA:2911
Marden-Walker Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2461
Mucolipidosis Type Ii	Inability to walk, Kyphosis	ORPHA:576
Lymphedema-Distichiasis Syndrome	Kyphosis	OMIM:153400
Spondyloepimetaphyseal Dysplasia, X-Linked	Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi...	OMIM:300106
Ramon Syndrome	Kyphosis, Scoliosis	OMIM:266270
Zttk Syndrome	Kyphosis, Spasticity, Hemivertebrae, Scoliosis	OMIM:617140
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
Neurofibromatosis Type 1	Kyphosis, Ataxia, Paresthesia, Scoliosis	ORPHA:636
Stickler Syndrome	Hemiplegia/hemiparesis, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, P...	ORPHA:828
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Myoclonus, Tetraplegia, Dystonia	OMIM:618278
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Neutral Lipid Storage Myopathy	Fasciculations, Difficulty walking	ORPHA:98908
1P36 Deletion Syndrome	Hemiplegia/hemiparesis, Kyphosis, Spinal canal stenosis, Gait disturbance, Scoliosis	ORPHA:1606
Somatomammotropinoma	Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis	ORPHA:314769
Acromegaly	Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis	ORPHA:963
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:198
Lenz-Majewski Hyperostotic Dwarfism	Kyphosis, Scoliosis	ORPHA:2658
Occipital Horn Syndrome	Kyphosis, Platyspondyly	OMIM:304150
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Marfan Syndrome	Kyphosis, Scoliosis, Spondylolisthesis	ORPHA:558
Coffin-Siris Syndrome 1	Sacral dimple, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta	OMIM:135900
Tuberous Sclerosis Complex	Abnormal social behavior	ORPHA:805
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pilomatrixoma, Neoplasm, Spinal cord tumor, Meningioma	ORPHA:353281
Wolf-Hirschhorn Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis	OMIM:194190
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
17Q11 Microdeletion Syndrome	Abnormal central motor function, Kyphosis, Abnormality of the vertebral column, Beaking of verteb...	ORPHA:97685
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:2273
Tetrasomy 9P	Pilomatrixoma	ORPHA:3310
Turner Syndrome Due To Structural X Chromosome Anomalies	Kyphosis, Scoliosis, Short neck	ORPHA:99413
Mosaic Monosomy X	Kyphosis, Scoliosis, Short neck	ORPHA:99228
Monosomy X	Kyphosis, Scoliosis, Short neck	ORPHA:99226
Turner Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:881
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pilomatrixoma, Meningioma	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pilomatrixoma, Meningioma	ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Spasticity, Myoclonus	OMIM:253280
Proteus Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:744
Primrose Syndrome	Kyphosis, Posterior scalloping of vertebral bodies, Ataxia, Irregular vertebral endplates	OMIM:259050
Wrinkly Skin Syndrome	Kyphosis, Scoliosis	OMIM:278250
Viss Syndrome	Kyphosis, Butterfly vertebrae, Scoliosis	OMIM:619472
Branchiooculofacial Syndrome	Hyperlordosis, Kyphosis, Short neck	OMIM:113620
Yunis-Varon Syndrome	Kyphosis, Anterior concavity of thoracic vertebrae	OMIM:216340
Alström Syndrome	Somatic sensory dysfunction, Incoordination, Ataxia, Thoracic scoliosis, Kyphosis, Poor fine moto...	ORPHA:64

Histopathology

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

There is no histopathology data for Grm1

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 Grm1.

No publications found that use IMPC mice or data for Grm1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Grm1^em2(IMPC)H	Exon Deletion	Mice
Grm1^{tm47852(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Grm1^em1H	Point Mutation	Mice

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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